[ { "uniprot_canonical_ac": "P27958-1", "uniprot_id": "POLG_HCV77", "mass": 327146.0, "length": 3011, "protein_name": "Genome polyprotein", "gene_name": "", "organism": "HCV-H77", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Genome polyprotein; Capsid protein C; Hepacivirin; NS1; NS2; NS3 helicase; NS3 protease; NS3P; NS5B; Non-structural protein 2; Viroporin p70; gp32; gp35; gp68; gp70; p21; p23; p27; p56/58; p68; p8", "protein_names_refseq": "", "tax_id": 63746, "disease": "hepatitis C (Disease Ontology:DOID:1883); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": "", "pathway_count": 0, "publication_count": 133, "publication_id_list": "10211957;10390359;10488152;10702287;10718937;10729138;11086025;11145889;11356980;11447125;11457993;11557752;11706032;11744739;11801599;11846566;11907211;12010504;12021330;12065403;12093180;12356718;12465917;12560074;12692242;12692244;12692249;12719519;12913001;12970454;14504405;14602201;14741348;14752815;14981760;14990718;15247249;15247283;15269774;15289502;15362047;15364941;15371595;15710891;15722527;16175596;16177806;16227268;16301520;16397502;16530520;16533059;1658800;16731940;16862121;16894197;16951545;17030859;17192310;17229681;17258731;17881511;18033802;18187336;18992225;19182773;19357161;19486448;19692468;20375010;20729191;20824094;20926572;21147927;21507982;21940894;22171278;22278231;22720086;22767607;22855500;22927442;23542348;23799612;23868571;24006444;24038151;24288331;24698129;24838241;25122793;25351725;25424537;25551442;25683609;26185986;26727512;27075377;27194766;27282740;27320856;27578425;27676132;27997681;28404852;28743875;29039530;29505618;29695434;29782532;30341327;31344133;31597774;31801866;32156572;34260404;37407817;38971664;7679746;7769699;8035505;8189513;8248148;8386278;8764026;8861917;8982089;9037030;9187654;9228008;9238047;9493270;9813209", "class_list": "", "function": "Cysteine protease required for the proteolytic auto-cleavage between the non-structural proteins NS2 and NS3 (PubMed:8248148). The N-terminus of NS3 is required for the function of NS2 protease (active region NS2-3) (By similarity). Promotes the initiation of viral particle assembly by mediating the interaction between structural and non-structural proteins (PubMed:21147927)., [UniProtKB, UniProtKB, PubMed, PubMed]; Displays three enzymatic activities: serine protease with a chymotrypsin-like fold, NTPase and RNA helicase (PubMed:25551442). NS3 serine protease, in association with NS4A, is responsible for the cleavages of NS3-NS4A, NS4A-NS4B, NS4B-NS5A and NS5A-NS5B (PubMed:8035505, PubMed:8189513, PubMed:8386278). The NS3/NS4A complex prevents phosphorylation of host IRF3, thus preventing the establishment of dsRNA induced antiviral state (By similarity). The NS3/NS4A complex induces host amino acid transporter component SLC3A2, thus contributing to HCV propagation (PubMed:30341327). NS3 RNA helicase binds to RNA and unwinds both dsDNA and dsRNA in the 3' to 5' direction, and likely resolves RNA complicated stable secondary structures in the template strand (Probable). Binds a single ATP and catalyzes the unzipping of a single base pair of dsRNA (PubMed:21940894). Inhibits host antiviral proteins TBK1 and IRF3 thereby preventing the establishment of an antiviral state (By similarity). Cleaves host MAVS/CARDIF thereby preventing the establishment of an antiviral state (PubMed:16177806, PubMed:16301520). Cleaves host TICAM1/TRIF, thereby disrupting TLR3 signaling and preventing the establishment of an antiviral state (PubMed:15710891)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Forms a heterodimer with envelope glycoprotein E1, which mediates virus attachment to the host cell, virion internalization through clathrin-dependent endocytosis and fusion with host membrane (PubMed:14990718, PubMed:16894197). Fusion with the host cell is most likely mediated by both E1 and E2, through conformational rearrangements of the heterodimer required for fusion rather than a classical class II fusion mechanism (PubMed:16533059, PubMed:24698129, PubMed:29505618). The interaction between E2 and host apolipoprotein E/APOE allows the proper assembly, maturation and infectivity of the viral particles (PubMed:25122793, PubMed:29695434). This interaction is probably promoted via the up-regulation of cellular autophagy by the virus (PubMed:29695434). E1/E2 heterodimer binds host apolipoproteins such as APOB and APOE thereby forming a lipo-viro-particle (LVP) (PubMed:24838241, PubMed:25122793, PubMed:29695434). APOE associated to the LVP allows the initial virus attachment to cell surface receptors such as the heparan sulfate proteoglycans (HSPGs), syndecan-1 (SDC1), syndecan-1 (SDC2), the low-density lipoprotein receptor (LDLR) and scavenger receptor class B type I (SCARB1) (PubMed:12356718, PubMed:12913001, PubMed:12970454, PubMed:22767607, PubMed:28404852). The cholesterol transfer activity of SCARB1 allows E2 exposure and binding of E2 to SCARB1 and the tetraspanin CD81 (PubMed:12913001, PubMed:22767607). E1/E2 heterodimer binding on CD81 activates the epithelial growth factor receptor (EGFR) signaling pathway (By similarity) (PubMed:12913001, PubMed:12970454, PubMed:19182773, PubMed:20375010, PubMed:22855500, PubMed:24038151). Diffusion of the complex E1/E2-EGFR-SCARB1-CD81 to the cell lateral membrane allows further interaction with Claudin 1 (CLDN1) and occludin (OCLN) to finally trigger HCV entry (By similarity) (PubMed:12913001, PubMed:12970454, PubMed:19182773, PubMed:20375010, PubMed:24038151). Inhibits host EIF2AK2/PKR activation, preventing the establishment of an antiviral state (By similarity). Viral ligand for CD209/DC-SIGN and CLEC4M/DC-SIGNR, which are respectively found on DCs, and on liver sinusoidal endothelial cells and macrophage-like cells of lymph node sinuses (PubMed:15371595). These interactions allow the capture of circulating HCV particles by these cells and subsequent facilitated transmission to permissive cells such as hepatocytes and lymphocyte subpopulations (PubMed:15371595). The interaction between E2 and host amino acid transporter complex formed by SLC3A2 and SLC7A5/LAT1 may facilitate viral entry into host cell (PubMed:30341327)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Forms a heterodimer with envelope glycoprotein E2, which mediates virus attachment to the host cell, virion internalization through clathrin-dependent endocytosis and fusion with host membrane (PubMed:14990718, PubMed:16894197). Fusion with the host cell is most likely mediated by both E1 and E2, through conformational rearrangements of the heterodimer required for fusion rather than a classical class II fusion mechanism (PubMed:16533059, PubMed:24698129, PubMed:29505618). E1/E2 heterodimer binds host apolipoproteins such as APOB and APOE thereby forming a lipo-viro-particle (LVP) (PubMed:24838241, PubMed:25122793, PubMed:29695434). APOE associated to the LVP allows the initial virus attachment to cell surface receptors such as the heparan sulfate proteoglycans (HSPGs), syndecan-1 (SDC1), syndecan-1 (SDC2), the low-density lipoprotein receptor (LDLR) and scavenger receptor class B type I (SCARB1) (PubMed:12356718, PubMed:12913001, PubMed:12970454, PubMed:22767607, PubMed:28404852). The cholesterol transfer activity of SCARB1 allows E2 exposure and binding of E2 to SCARB1 and the tetraspanin CD81 (PubMed:12913001, PubMed:22767607). E1/E2 heterodimer binding on CD81 activates the epithelial growth factor receptor (EGFR) signaling pathway (PubMed:22855500). Diffusion of the complex E1/E2-EGFR-SCARB1-CD81 to the cell lateral membrane allows further interaction with Claudin 1 (CLDN1) and occludin (OCLN) to finally trigger HCV entry (By similarity) (PubMed:12913001, PubMed:12970454, PubMed:19182773, PubMed:20375010, PubMed:24038151)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Induces a specific membrane alteration that serves as a scaffold for the virus replication complex (PubMed:12021330). This membrane alteration gives rise to the so-called ER-derived membranous web that contains the replication complex (PubMed:12021330). NS4B self-interaction contributes to its function in membranous web formation (PubMed:16731940). Promotes host TRIF protein degradation in a CASP8-dependent manner thereby inhibiting host TLR3-mediated interferon signaling (PubMed:29782532). Disrupts the interaction between STING and TBK1 contributing to the inhibition of interferon signaling (PubMed:23542348)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Ion channel protein that acts as a viroporin and plays an essential role in the assembly, envelopment and secretion of viral particles (PubMed:12719519, PubMed:20824094, PubMed:27320856). Participates in virus envelopment by coordinating the encounter between NS5A and NS2-based assembly sites loaded with E1/E2 heterodimer, which subsequently leads to nucleocapsid envelopment (By similarity). Creates a pore in acidic organelles and releases Ca(2+) and H(+) in the cytoplasm of infected cells, leading to a productive viral infection (Probable) (PubMed:20824094). High levels of cytoplasmic Ca(2+) may trigger membrane trafficking and transport of viral ER-associated proteins to viroplasms, sites of viral genome replication (Probable). The release of Ca(2+) may also activate the inflamasome leading to chronic inflammation (Probable) (PubMed:31801866). Targets also host mitochondria and induces mitochondrial depolarization (PubMed:29039530). In addition of its role as a viroporin, acts as a lipid raft adhesion factor (PubMed:27320856)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Packages viral RNA to form a viral nucleocapsid, and promotes virion budding (Probable). Participates in the viral particle production as a result of its interaction with the non-structural protein 5A (By similarity). Binds RNA and may function as a RNA chaperone to induce the RNA structural rearrangements taking place during virus replication (PubMed:18033802). Modulates viral translation initiation by interacting with viral IRES and 40S ribosomal subunit (By similarity). Affects various cell signaling pathways, host immunity and lipid metabolism (Probable). Prevents the establishment of cellular antiviral state by blocking the interferon-alpha/beta (IFN-alpha/beta) and IFN-gamma signaling pathways and by blocking the formation of phosphorylated STAT1 and promoting ubiquitin-mediated proteasome-dependent degradation of STAT1 (By similarity) (PubMed:23799612). Activates STAT3 leading to cellular transformation (By similarity). Regulates the activity of cellular genes, including c-myc and c-fos (By similarity). May repress the promoter of p53, and sequester CREB3 and SP110 isoform 3/Sp110b in the cytoplasm (By similarity). Represses cell cycle negative regulating factor CDKN1A, thereby interrupting an important check point of normal cell cycle regulation (By similarity). Targets transcription factors involved in the regulation of inflammatory responses and in the immune response: suppresses NF-kappa-B activation, and activates AP-1 (By similarity). Binds to dendritic cells (DCs) via C1QR1, resulting in down-regulation of T-lymphocytes proliferation (PubMed:11086025, PubMed:17881511). Alters lipid metabolism by interacting with hepatocellular proteins involved in lipid accumulation and storage (PubMed:14602201). Induces up-regulation of FAS promoter activity, and thereby contributes to the increased triglyceride accumulation in hepatocytes (steatosis) (PubMed:14602201)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Peptide cofactor which forms a non-covalent complex with the N-terminal of NS3 serine protease (PubMed:21507982, PubMed:8189513). The NS3/NS4A complex prevents phosphorylation of host IRF3, thus preventing the establishment of dsRNA induced antiviral state (By similarity). The NS3/NS4A complex induces host amino acid transporter component SLC3A2, thus contributing to HCV propagation (PubMed:30341327)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Phosphorylated protein that is indispensable for viral replication and assembly (PubMed:27578425). Both hypo- and hyperphosphorylated states are required for the viral life cycle (By similarity). The hyperphosphorylated form of NS5A is an inhibitor of viral replication (By similarity). Involved in RNA-binding and especially in binding to the viral genome (Probable). Zinc is essential for RNA-binding (PubMed:20926572). Participates in the viral particle production as a result of its interaction with the viral mature core protein (By similarity). Its interaction with host VAPB may target the viral replication complex to vesicles (By similarity). Down-regulates viral IRES translation initiation (By similarity). Mediates interferon resistance, presumably by interacting with and inhibiting host EIF2AK2/PKR (PubMed:16951545). Prevents BIN1-induced apoptosis (PubMed:16530520). Acts as a transcriptional activator of some host genes important for viral replication when localized in the nucleus (By similarity). Via the interaction with host PACSIN2, modulates lipid droplet formation in order to promote virion assembly (PubMed:31801866). Modulates TNFRSF21/DR6 signaling pathway for viral propagation (PubMed:28743875)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; RNA-dependent RNA polymerase that performs primer-template recognition and RNA synthesis during viral replication (PubMed:20729191). Initiates RNA transcription/replication at a flavin adenine dinucleotide (FAD), resulting in a 5'- FAD cap on viral RNAs. In this way, recognition of viral 5' RNA by host pattern recognition receptors can be bypassed (PubMed:37407817), thereby evading activation of antiviral pathways., [UniProtKB, PubMed, 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": 15, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 11, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 15, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 15, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 12, "reported_mutagensis": 30, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 14, "disease_count": 3, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "O36579;O36608;O36609;O36610", "ec_number_list": "", "go_molecular_function": "GO:0003968 RNA-directed RNA polymerase activity;GO:0003723 RNA binding;GO:0004252 serine-type endopeptidase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0042025 host cell nucleus;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane;GO:0019031 viral envelope;GO:1990904 ribonucleoprotein complex;GO:0019013 viral nucleocapsid", "go_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0044053 translocation of peptides or proteins into host cell cytoplasm;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "P27958-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P26662-1", "uniprot_id": "POLG_HCVJA", "mass": 327021.0, "length": 3010, "protein_name": "Genome polyprotein", "gene_name": "", "organism": "HCV-Japanese", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Genome polyprotein; Capsid protein C; Hepacivirin; NS1; NS2; NS3 helicase; NS3 protease; NS3P; NS5B; Non-structural protein 2; Viroporin p70; gp32; gp35; gp68; gp70; p21; p23; p27; p56/58; p68; p8", "protein_names_refseq": "", "tax_id": 11116, "disease": "hepatitis C (Disease Ontology:DOID:1883); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": "", "pathway_count": 0, "publication_count": 47, "publication_id_list": "10702283;10718937;10793006;11689620;11907226;14559998;14752815;15163730;15368525;15588076;15613354;15760888;15825084;16126720;16227268;1648221;16517592;16844119;16859951;16940534;17267064;17451199;1849488;20398661;20667830;21113170;21270126;2175903;22965230;23242014;23271737;23468497;23672640;23935497;25031343;31585734;7769656;7999043;8389908;8392606;8396658;8985418;9060645;9343247;9525599;9621068;9753499", "class_list": "", "function": "Cysteine protease required for the proteolytic auto-cleavage between the non-structural proteins NS2 and NS3 (By similarity). The N-terminus of NS3 is required for the function of NS2 protease (active region NS2-3) (By similarity). Promotes the initiation of viral particle assembly by mediating the interaction between structural and non-structural proteins (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Displays three enzymatic activities: serine protease with a chymotrypsin-like fold, NTPase and RNA helicase (By similarity). NS3 serine protease, in association with NS4A, is responsible for the cleavages of NS3-NS4A, NS4A-NS4B, NS4B-NS5A and NS5A-NS5B (By similarity). The NS3/NS4A complex prevents phosphorylation of host IRF3, thus preventing the establishment of dsRNA induced antiviral state (By similarity). The NS3/NS4A complex induces host amino acid transporter component SLC3A2, thus contributing to HCV propagation (By similarity). NS3 RNA helicase binds to RNA and unwinds both dsDNA and dsRNA in the 3' to 5' direction, and likely resolves RNA complicated stable secondary structures in the template strand (By similarity). Binds a single ATP and catalyzes the unzipping of a single base pair of dsRNA (By similarity). Inhibits host antiviral proteins TBK1 and IRF3 thereby preventing the establishment of an antiviral state (By similarity). Cleaves host MAVS/CARDIF thereby preventing the establishment of an antiviral state (By similarity). Cleaves host TICAM1/TRIF, thereby disrupting TLR3 signaling and preventing the establishment of an antiviral state (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Forms a heterodimer with envelope glycoprotein E1, which mediates virus attachment to the host cell, virion internalization through clathrin-dependent endocytosis and fusion with host membrane (By similarity). Fusion with the host cell is most likely mediated by both E1 and E2, through conformational rearrangements of the heterodimer required for fusion rather than a classical class II fusion mechanism (By similarity). The interaction between envelope glycoprotein E2 and host apolipoprotein E/APOE allows the proper assembly, maturation and infectivity of the viral particles (By similarity). This interaction is probably promoted via the up-regulation of cellular autophagy by the virus (By similarity). E1/E2 heterodimer binds host apolipoproteins such as APOB and APOE thereby forming a lipo-viro-particle (LVP) (By similarity). APOE associated to the LVP allows the initial virus attachment to cell surface receptors such as the heparan sulfate proteoglycans (HSPGs), syndecan-1 (SDC1), syndecan-1 (SDC2), the low-density lipoprotein receptor (LDLR) and scavenger receptor class B type I (SCARB1) (By similarity). The cholesterol transfer activity of SCARB1 allows E2 exposure and binding of E2 to SCARB1 and the tetraspanin CD81 (By similarity). E1/E2 heterodimer binding on CD81 activates the epithelial growth factor receptor (EGFR) signaling pathway (By similarity). Diffusion of the complex E1-E2-EGFR-SCARB1-CD81 to the cell lateral membrane allows further interaction with Claudin 1 (CLDN1) and occludin (OCLN) to finally trigger HCV entry (By similarity). Inhibits host EIF2AK2/PKR activation, preventing the establishment of an antiviral state (By similarity). Viral ligand for CD209/DC-SIGN and CLEC4M/DC-SIGNR, which are respectively found on dendritic cells (DCs), and on liver sinusoidal endothelial cells and macrophage-like cells of lymph node sinuses (By similarity). These interactions allow the capture of circulating HCV particles by these cells and subsequent facilitated transmission to permissive cells such as hepatocytes and lymphocyte subpopulations (By similarity). The interaction between E2 and host amino acid transporter complex formed by SLC3A2 and SLC7A5/LAT1 may facilitate viral entry into host cell (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Forms a heterodimer with envelope glycoprotein E2, which mediates virus attachment to the host cell, virion internalization through clathrin-dependent endocytosis and fusion with host membrane (By similarity). Fusion with the host cell is most likely mediated by both E1 and E2, through conformational rearrangements of the heterodimer required for fusion rather than a classical class II fusion mechanism (By similarity). E1/E2 heterodimer binds host apolipoproteins such as APOB and APOE thereby forming a lipo-viro-particle (LVP) (By similarity). APOE associated to the LVP allows the initial virus attachment to cell surface receptors such as the heparan sulfate proteoglycans (HSPGs), syndecan-1 (SDC1), syndecan-1 (SDC2), the low-density lipoprotein receptor (LDLR) and scavenger receptor class B type I (SCARB1) (By similarity). The cholesterol transfer activity of SCARB1 allows E2 exposure and binding of E2 to SCARB1 and the tetraspanin CD81 (By similarity). E1/E2 heterodimer binding on CD81 activates the epithelial growth factor receptor (EGFR) signaling pathway (By similarity). Diffusion of the complex E1-E2-EGFR-SCARB1-CD81 to the cell lateral membrane allows further interaction with Claudin 1 (CLDN1) and occludin (OCLN) to finally trigger HCV entry (By similarity)., [UniProtKB, UniProtKB]; Induces a specific membrane alteration that serves as a scaffold for the virus replication complex (By similarity). This membrane alteration gives rise to the so-called ER-derived membranous web that contains the replication complex (By similarity). NS4B self-interaction contributes to its function in membranous web formation (By similarity). Promotes host TRIF protein degradation in a CASP8-dependent manner thereby inhibiting host TLR3-mediated interferon signaling (By similarity). Disrupts the interaction between STING and TBK1 contributing to the inhibition of interferon signaling (By similarity)., [UniProtKB, UniProtKB]; Ion channel protein that acts as a viroporin and plays an essential role in the assembly, envelopment and secretion of viral particles (PubMed:20667830). Regulates the host cell secretory pathway, which induces the intracellular retention of viral glycoproteins and favors assembly of viral particles (By similarity). Creates a pore in acidic organelles and releases Ca(2+) and H(+) in the cytoplasm of infected cells, leading to a productive viral infection (By similarity). High levels of cytoplasmic Ca(2+) may trigger membrane trafficking and transport of viral ER-associated proteins to viroplasms, sites of viral genome replication (Probable). This ionic imbalance induces the assembly of the inflammasome complex, which triggers the maturation of pro-IL-1beta into IL-1beta through the action of caspase-1 (By similarity). Targets also host mitochondria and induces mitochondrial depolarization (By similarity). In addition of its role as a viroporin, acts as a lipid raft adhesion factor (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Packages viral RNA to form a viral nucleocapsid, and promotes virion budding (Probable). Participates in the viral particle production as a result of its interaction with the non-structural protein 5A (By similarity). Binds RNA and may function as a RNA chaperone to induce the RNA structural rearrangements taking place during virus replication (By similarity). Modulates viral translation initiation by interacting with viral IRES and 40S ribosomal subunit (PubMed:15760888). Affects various cell signaling pathways, host immunity and lipid metabolism (Probable). Prevents the establishment of cellular antiviral state by blocking the interferon-alpha/beta (IFN-alpha/beta) and IFN-gamma signaling pathways and by blocking the formation of phosphorylated STAT1 and promoting ubiquitin-mediated proteasome-dependent degradation of STAT1 (PubMed:15825084, PubMed:16940534). Activates STAT3 leading to cellular transformation (By similarity). Regulates the activity of cellular genes, including c-myc and c-fos (By similarity). May repress the promoter of p53, and sequester CREB3 and SP110 isoform 3/Sp110b in the cytoplasm (PubMed:14559998). Represses cell cycle negative regulating factor CDKN1A, thereby interrupting an important check point of normal cell cycle regulation (By similarity). Targets transcription factors involved in the regulation of inflammatory responses and in the immune response: suppresses NF-kappa-B activation, and activates AP-1 (By similarity). Binds to dendritic cells (DCs) via C1QR1, resulting in down-regulation of T-lymphocytes proliferation (By similarity). Alters lipid metabolism by interacting with hepatocellular proteins involved in lipid accumulation and storage (By similarity). Induces up-regulation of FAS promoter activity, and thereby contributes to the increased triglyceride accumulation in hepatocytes (steatosis) (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Peptide cofactor which forms a non-covalent complex with the N-terminal of NS3 serine protease (By similarity). The NS3/NS4A complex prevents phosphorylation of host IRF3, thus preventing the establishment of dsRNA induced antiviral state (By similarity). The NS3/NS4A complex induces host amino acid transporter component SLC3A2, thus contributing to HCV propagation (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Phosphorylated protein that is indispensable for viral replication and assembly (By similarity). Both hypo- and hyperphosphorylated states are required for the viral life cycle (By similarity). The hyperphosphorylated form of NS5A is an inhibitor of viral replication (By similarity). Involved in RNA-binding and especially in binding to the viral genome (PubMed:16126720). Zinc is essential for RNA-binding (By similarity). Participates in the viral particle production as a result of its interaction with the mature viral core protein (By similarity). Its interaction with host VAPB may target the viral replication complex to vesicles (Probable). Down-regulates viral IRES translation initiation (PubMed:31585734). Mediates interferon resistance, presumably by interacting with and inhibiting host EIF2AK2/PKR (By similarity). Prevents BIN1-induced apoptosis (By similarity). Acts as a transcriptional activator of some host genes important for viral replication when localized in the nucleus (Probable) (PubMed:23468497). Via the interaction with host PACSIN2, modulates lipid droplet formation in order to promote virion assembly (By similarity). Modulates TNFRSF21/DR6 signaling pathway for viral propagation (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; RNA-dependent RNA polymerase that performs primer-template recognition and RNA synthesis during viral replication. Initiates RNA transcription/replication at a flavin adenine dinucleotide (FAD), resulting in a 5'- FAD cap on viral RNAs. In this way, recognition of viral 5' RNA by host pattern recognition receptors can be bypassed, thereby evading activation of antiviral pathways., [UniProtKB, UniProtKB]", "predicted_glycosites": 15, "predicted_n_glycosites": 13, "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": 6, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "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": 0, "reported_phosphosites": 11, "reported_mutagensis": 51, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "P89966;Q81755", "ec_number_list": "", "go_molecular_function": "GO:0003968 RNA-directed RNA polymerase activity;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0004252 serine-type endopeptidase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0042025 host cell nucleus;GO:0019031 viral envelope;GO:0032993 protein-DNA complex;GO:1990904 ribonucleoprotein complex;GO:0019013 viral nucleocapsid", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006508 proteolysis;GO:0034220 monoatomic ion transmembrane transport;GO:0019087 symbiont-mediated transformation of host cell;GO:0039502 symbiont-mediated suppression of host type I interferon-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P26662-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DMQ9-1", "uniprot_id": "CH089_HUMAN", "mass": 18160.0, "length": 161, "protein_name": "Putative uncharacterized protein C8orf89", "gene_name": "C8orf89", "organism": "Human", "refseq_name": "putative uncharacterized protein C8orf89 isoform a", "refseq_ac": "NP_001230166", "gene_names_uniprotkb": "C8orf89", "gene_names_refseq": "C8orf89", "protein_names_uniprotkb": "Putative uncharacterized protein C8orf89", "protein_names_refseq": "putative uncharacterized protein C8orf89 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130301)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;31154438;31844290;33592498", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0DMQ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CG36-1", "uniprot_id": "CFC1B_HUMAN", "mass": 24642.0, "length": 223, "protein_name": "Cryptic family protein 1B", "gene_name": "CFC1B", "organism": "Human", "refseq_name": "cryptic family protein 1B precursor", "refseq_ac": "NP_001072998", "gene_names_uniprotkb": "CFC1B", "gene_names_refseq": "CFC1B", "protein_names_uniprotkb": "Cryptic family protein 1B", "protein_names_refseq": "cripto, FRL-1, cryptic family 1B; cryptic family protein 1B precursor; cryptic family protein 1B", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); dextro-looped transposition of the great arteries (Disease Ontology:DOID:0060770); right atrial isomerism (Disease Ontology:DOID:0060856); double outlet right ventricle (Disease Ontology:DOID:6406); tetralogy of Fallot (Disease Ontology:DOID:6419)", "pathway": " (hsa:653275)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": 0, "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": "B2RCY0;B9EJD3;Q53T05;Q9GZR3", "ec_number_list": "", "go_molecular_function": "GO:0038100 nodal binding;GO:0070697 activin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0009986 cell surface", "go_biological_process": "GO:0007507 heart development;GO:0001568 blood vessel development;GO:0009952 anterior/posterior pattern specification;GO:0038092 nodal signaling pathway;GO:0007368 determination of left/right symmetry", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0CG36-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1L170-1", "uniprot_id": "CA226_HUMAN", "mass": 29057.0, "length": 272, "protein_name": "Uncharacterized protein C1orf226", "gene_name": "C1orf226", "organism": "Human", "refseq_name": "uncharacterized protein C1orf226", "refseq_ac": "NP_001078844", "gene_names_uniprotkb": "C1orf226", "gene_names_refseq": "C1orf226", "protein_names_uniprotkb": "Uncharacterized protein C1orf226", "protein_names_refseq": "uncharacterized protein C1orf226", "tax_id": 9606, "disease": "", "pathway": " (hsa:400793)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "18220336;18669648;18691976;19413330;19664994;19664995;20068231;20166139;23186163;24275569", "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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DF31", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A1L170-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NCI8-1", "uniprot_id": "CB078_HUMAN", "mass": 100170.0, "length": 922, "protein_name": "Uncharacterized protein C2orf78", "gene_name": "C2orf78", "organism": "Human", "refseq_name": "uncharacterized protein C2orf78", "refseq_ac": "NP_001073943", "gene_names_uniprotkb": "C2orf78", "gene_names_refseq": "C2orf78; COG5373; hCG1989538", "protein_names_uniprotkb": "Uncharacterized protein C2orf78", "protein_names_refseq": "uncharacterized protein C2orf78", "tax_id": 9606, "disease": "", "pathway": " (hsa:388960)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;31844290;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NCI8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NKQ9-1", "uniprot_id": "CGB1_HUMAN", "mass": 20468.0, "length": 187, "protein_name": "Choriogonadotropin subunit beta variant 1", "gene_name": "CGB1", "organism": "Human", "refseq_name": "choriogonadotropin subunit beta variant 1 isoform 1 precursor", "refseq_ac": "NP_203695", "gene_names_uniprotkb": "CGB1", "gene_names_refseq": "CGB1", "protein_names_uniprotkb": "Choriogonadotropin subunit beta variant 1", "protein_names_refseq": "choriogonadotropin subunit beta variant 1 isoform 1 precursor; chorionic gonadotropin beta subunit 1; chorionic gonadotropin, beta polypeptide 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:114335)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;11861891;16123088;18048458;23090970;23774837;24190977;29485866;29632711;30582718;33912179", "class_list": "", "function": "The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous with the luteinizing hormone beta (LHB) subunit gene. The CGB genes are primarily distinguished by differences in the 5' untranscribed region. This gene was originally thought to be one of the two pseudogenes (CGB1 and CGB2) of CGB subunit, however, detection of CGB1 and CGB2 transcripts in vivo, and their presence on the polysomes, suggested that these transcripts are translated. To date, a protein product corresponding to CGB1 has not been isolated. The deduced sequence of the hypothetical protein of 132 aa does not share any similarity with that of functional CGB subunits (PMID:8954017). However, a 155 aa protein, translated from a different frame, is about the same size, and shares 98% identity with other CGB subunits. [provided by RefSeq, Jul 2008]., [RefSeq]; The presence of CGB1 and CGB2 transcripts in 41% of analyzed ovarian cancer cases, is reported. Publication Status: Online-Only, [RefSeq, PubMed]; These data provide new insight into the roles and mechanisms of b-hCG in regulating Epithelial ovarian cancer (EOC metastasis through ERK/MMP2 signaling pathway and may become a new target for therapeutic intervention., [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": 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": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4FVC8;A8MUK6", "ec_number_list": "", "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005576 extracellular region", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A6NKQ9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13698-1", "uniprot_id": "CAC1S_HUMAN", "mass": 212350.0, "length": 1873, "protein_name": "Voltage-dependent L-type calcium channel subunit alpha-1S", "gene_name": "CACNA1S", "organism": "Human", "refseq_name": "voltage-dependent L-type calcium channel subunit alpha-1S", "refseq_ac": "NP_000060", "gene_names_uniprotkb": "CACNA1S; CACH1; CACN1; CACNL1A3", "gene_names_refseq": "CACNA1S; CACNL1A3; CCHL1A3; CMYO18; CMYP18; Cav1.1; DHPRM; HOKPP1; HOKPP; MHS5; TTPP1; hypoPP", "protein_names_uniprotkb": "Voltage-dependent L-type calcium channel subunit alpha-1S; Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle; Voltage-gated calcium channel subunit alpha Cav1.1", "protein_names_refseq": "calcium channel, voltage-dependent, L type, alpha 1S subunit; dihydropyridine receptor alpha 1 subunit; dihydropyridine-sensitive L-type calcium channel alpha-1 subunit; voltage-dependent L-type calcium channel subunit alpha-1S; voltage-gated calcium channel subunit alpha Cav1.1", "tax_id": 9606, "disease": "Timothy syndrome (Disease Ontology:DOID:0060173); congenital myopathy 18 (Disease Ontology:DOID:0081350); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); hypokalemic periodic paralysis (Disease Ontology:DOID:14452); malignant hyperthermia (Disease Ontology:DOID:8545); thyrotoxic periodic paralysis, susceptibility to, 1 (MONDO:MONDO:0008570); malignant hyperthermia, susceptibility to, 5 (MONDO:MONDO:0011163)", "pathway": " (hsa:779); (R-HSA-419037)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "11237011;12765789;1322891;15001631;16267048;17418573;18059411;18162704;19118277;19473981;20937870;23481700;25469497;28012042;28063628;2809592;2844809;29078335;29557506;29632046;30379171;30524438;31154438;31227654;31844290;32387766;33060286;33392160;33592498;34087483;34932366;35051231;35254053;35494241;36010968;37510268;37679049;38111203;39198449;7629172;7713519;7916735;7987325;8004673;8262246;8838325;9199552;9398268", "class_list": "", "function": "Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth., [RefSeq, PubMed]; CACNA1S Variant Associated With a Myalgic Myopathy Phenotype., [RefSeq, PubMed]; CaV1.1 voltage-sensing domain III exclusively controls skeletal muscle excitation-contraction coupling. Publication Status: Online-Only, [RefSeq, PubMed]; Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature. Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcoplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group., [UniProtKB, PubMed]; This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]., [RefSeq]; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 69, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A4IF51;B1ALM2;Q12896;Q13934", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0046872 metal ion binding;GO:0036094 small molecule binding;GO:0005245 voltage-gated calcium channel activity;GO:0008331 high voltage-gated calcium channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0031674 I band;GO:0016529 sarcoplasmic reticulum;GO:0030315 T-tubule", "go_biological_process": "GO:0045933 positive regulation of muscle contraction;GO:0006936 muscle contraction;GO:0006816 calcium ion transport;GO:0051209 release of sequestered calcium ion into cytosol;GO:0070588 calcium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q13698-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UFW8-1", "uniprot_id": "CGBP1_HUMAN", "mass": 18820.0, "length": 167, "protein_name": "CGG triplet repeat-binding protein 1", "gene_name": "CGGBP1", "organism": "Human", "refseq_name": "CGG triplet repeat-binding protein 1", "refseq_ac": "NP_001008391", "gene_names_uniprotkb": "CGGBP1; CGGBP", "gene_names_refseq": "CGGBP1; CGGBP; p20-CGGBP", "protein_names_uniprotkb": "CGG triplet repeat-binding protein 1; 20 kDa CGG-binding protein; CGG-binding protein 1; p20-CGGBP DNA-binding protein", "protein_names_refseq": "20 kDa CGG-binding protein; CGG triplet repeat-binding protein 1; CGG-binding protein 1; p20-CGG binding protein; p20-CGGBP DNA-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8545)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;14667814;17525332;20068231;23301498;24196442;25418920;25483050;25576301;26154972;26992070;27397612;27600516;27846572;28063628;28832583;28834231;29242379;29393594;29557506;29632046;30429286;31154438;31844290;31848261;31998317;32157095;32488085;32727353;32897882;32983136;33691108;34585631;34932366;35580925;36010968;36241641;36284347;37217939;37938771;9201980", "class_list": "", "function": "Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role in regulating FMR1 promoter., [UniProtKB, PubMed]; CGGBP1-dependent CTCF-binding sites restrict ectopic transcription., [RefSeq, PubMed]; CGGBP1-regulated cytosine methylation at CTCF-binding motifs resists stochasticity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures which cause DNA replication errors, and form regions prone to chromosomal breakage. CGG repeats are also targets for CpG methylation. In addition to its ability to bind CGG repeats and regulate transcription, this gene is believed to play a role in DNA damage repair and telomere protection. In vitro studies indicate this protein does not bind to methylated CpG sequences. [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": 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": "D3DU38;O15183", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0003690 double-stranded DNA binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0010468 regulation of gene expression;GO:0040029 epigenetic regulation of gene expression;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9UFW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWF8-1", "uniprot_id": "CAPSL_HUMAN", "mass": 24229.0, "length": 208, "protein_name": "Calcyphosin-like protein", "gene_name": "CAPSL", "organism": "Human", "refseq_name": "calcyphosin-like protein", "refseq_ac": "NP_001036090", "gene_names_uniprotkb": "CAPSL", "gene_names_refseq": "CAPSL", "protein_names_uniprotkb": "Calcyphosin-like protein", "protein_names_refseq": "calcyphosin-like protein", "tax_id": 9606, "disease": "exudative vitreoretinopathy (Disease Ontology:DOID:0050535)", "pathway": " (hsa:133690)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;18563381;31186450;32502341", "class_list": "", "function": "Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0043226 organelle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8WWF8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2W6-1", "uniprot_id": "CK021_HUMAN", "mass": 14447.0, "length": 132, "protein_name": "Uncharacterized protein C11orf21", "gene_name": "C11orf21", "organism": "Human", "refseq_name": "uncharacterized protein C11orf21 isoform 1", "refseq_ac": "NP_001136418", "gene_names_uniprotkb": "C11orf21", "gene_names_refseq": "C11orf21", "protein_names_uniprotkb": "Uncharacterized protein C11orf21", "protein_names_refseq": "uncharacterized protein C11orf21 isoform 1; uncharacterized protein C11orf21", "tax_id": 9606, "disease": "", "pathway": " (hsa:29125)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11054561;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:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9P2W6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96F05-1", "uniprot_id": "CK024_HUMAN", "mass": 46101.0, "length": 449, "protein_name": "Uncharacterized protein C11orf24", "gene_name": "C11orf24", "organism": "Human", "refseq_name": "uncharacterized protein C11orf24 isoform 2 precursor", "refseq_ac": "NP_001287842", "gene_names_uniprotkb": "C11orf24; FP2568; PRO4315", "gene_names_refseq": "C11orf24; DM4E3", "protein_names_uniprotkb": "Uncharacterized protein C11orf24; Protein DM4E3", "protein_names_refseq": "uncharacterized protein C11orf24 isoform 2 precursor; uncharacterized protein C11orf24", "tax_id": 9606, "disease": "", "pathway": " (hsa:53838)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;11401438;12975309;15498874;23481700;23584533;24312644;24715725;25645385;25813380;28834231;29242379;29557506;29786170;30459171;30484775;30524438;31611695;31844290;32157095;32350084;32357974;32387766;32502341;32938616;33141586;33392160;33968037;34171305;34357683;35051231;35154160;35251023;36010968;37074911;38665916", "class_list": "", "function": "", "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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "Q9H2K4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96F05-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96A22-1", "uniprot_id": "CK052_HUMAN", "mass": 13921.0, "length": 123, "protein_name": "Uncharacterized protein C11orf52", "gene_name": "C11orf52", "organism": "Human", "refseq_name": "uncharacterized protein C11orf52", "refseq_ac": "NP_542390", "gene_names_uniprotkb": "C11orf52", "gene_names_refseq": "C11orf52", "protein_names_uniprotkb": "Uncharacterized protein C11orf52", "protein_names_refseq": "uncharacterized protein C11orf52", "tax_id": 9606, "disease": "", "pathway": " (hsa:91894)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;18083107;24275569;25576301;27862975;29557506;31154438;31848261;33981976;35051231;35580925;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": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0030054 cell junction;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96A22-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92478-1", "uniprot_id": "CLC2B_HUMAN", "mass": 17307.0, "length": 149, "protein_name": "C-type lectin domain family 2 member B", "gene_name": "CLEC2B", "organism": "Human", "refseq_name": "C-type lectin domain family 2 member B", "refseq_ac": "NP_005118", "gene_names_uniprotkb": "CLEC2B; AICL; CLECSF2; IFNRG1", "gene_names_refseq": "AICL; CLEC2B; CLECSF2; HP10085; IFNRG1", "protein_names_uniprotkb": "C-type lectin domain family 2 member B; Activation-induced C-type lectin; C-type lectin superfamily member 2; IFN-alpha-2b-inducing-related protein 1", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced); C-type lectin domain family 2 member B; C-type lectin superfamily member 2; IFN-alpha-2b-inducing-related protein 1; IFN-alpha2b-inducing related protein 1; activation-induced C-type lectin", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); nephritis (Disease Ontology:DOID:10952); leiomyoma (Disease Ontology:DOID:127); Huntington's disease (Disease Ontology:DOID:12858); Parkinson's disease (Disease Ontology:DOID:14330); transient cerebral ischemia (Disease Ontology:DOID:224); asthma (Disease Ontology:DOID:2841); middle cerebral artery infarction (Disease Ontology:DOID:3525); autoimmune disease (Disease Ontology:DOID:417); liver cirrhosis (Disease Ontology:DOID:5082); borna disease (Disease Ontology:DOID:5154); ureteral obstruction (Disease Ontology:DOID:5199); stomach carcinoma (Disease Ontology:DOID:5517); congestive heart failure (Disease Ontology:DOID:6000); arthritis (Disease Ontology:DOID:848); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); type 2 diabetes mellitus (Disease Ontology:DOID:9352); bacterial meningitis (Disease Ontology:DOID:9470)", "pathway": " (hsa:9976); (R-HSA-198933)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10.1038/emboj.2013.79;10072769;10499918;10746781;11237011;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;18230726;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23584533;23695528;23929856;24305946;25576301;25703557;25716998;26284469;26300885;26992070;27960039;28514659;28832583;29242379;29557506;29980609;31217245;31280468;31848261;32157095;32983136;33968037;35902826;7531291;7542404;8178173;8995416;9038101;9285412;9314561;9700512;9730896", "class_list": "glycogene", "function": "Association between c-type lectin-like receptor 2 and microsatellite instability in colorectal cancer: a cross-sectional study. Publication Status: Online-Only, [RefSeq, PubMed]; Membrane-bound protein expressed on myeloid cells which acts as a ligand to stimulate the activating receptor NKp80/KLRF1, expressed on the surface of natural killer (NK) cells. In turn, stimulates NK-cell cytotoxicity and cytokine production leading to the cytolysis of malignant CLEC2B-expressing myeloid cells., [UniProtKB, PubMed, PubMed, PubMed]; Our data demonstrate that AICL expression and surfacing are tightly controlled by several independent cellular posttranslational mechanisms., [RefSeq, PubMed]; Plasma soluble C-type lectin-like receptor-2 is associated with the risk of coronary artery disease., [RefSeq, PubMed]; Review of C-type lectin-like receptor 2 and podoplanin interactions [review] Review article, [RefSeq, PubMed]; This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 180, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 21, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R9U1;Q8IZE9;Q9BS74;Q9UQB4", "ec_number_list": "", "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0042802 identical protein binding;GO:0030246 carbohydrate binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0050852 T cell receptor signaling pathway;GO:0051132 NK T cell activation", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q92478-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75390-1", "uniprot_id": "CISY_HUMAN", "mass": 51712.0, "length": 466, "protein_name": "Citrate synthase, mitochondrial", "gene_name": "CS", "organism": "Human", "refseq_name": "citrate synthase, mitochondrial precursor", "refseq_ac": "NP_004068", "gene_names_uniprotkb": "CS", "gene_names_refseq": "CS", "protein_names_uniprotkb": "Citrate synthase, mitochondrial; 2.3.3.1; Citrate (Si)-synthase", "protein_names_refseq": "citrate (Si)-synthase; citrate synthase, mitochondrial precursor; citrate synthase, mitochondrial", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); left ventricular failure (Disease Ontology:DOID:0051064); cataract 4 multiple types (Disease Ontology:DOID:0110234); cataract 2 multiple types (Disease Ontology:DOID:0110235); cataract 7 (Disease Ontology:DOID:0110260); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); hypothyroidism (Disease Ontology:DOID:1459); bipolar disorder (Disease Ontology:DOID:3312); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hyperthyroidism (Disease Ontology:DOID:7998); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:1431); (R-HSA-1268020); (R-HSA-71403); (R-HSA-9837999); (R-HSA-9854311)", "pathway_count": 5, "publication_count": 181, "publication_id_list": "10.1101/2023.09.13.557529;1052766;10673423;10727444;11237011;11278619;11923310;12198491;12207025;12549038;13181903;14249115;14555658;14623864;14726512;14832224;14946179;15234968;15242332;15247478;15254020;15522782;15644312;15652751;15683237;15870080;15877282;15987702;16087237;16115876;16143825;16185709;16737955;16740313;16849325;17101804;17182618;17297443;17432878;17510655;17579211;17668387;17923681;18174896;18678864;18806796;18914071;19409522;19453276;1946331;19608861;19628817;19767391;19841671;19962426;2005110;20068231;20167786;20435888;20593814;20847235;21750375;21993680;22262461;22416140;22706990;22710082;23041349;23201127;23481700;23564345;23597483;23747254;23811401;23931759;24315374;24520911;24714562;24954416;24954417;25315652;25418920;25564869;25576301;25645385;25810538;25880248;25888644;26375851;26504172;26697887;26728094;26749241;26923599;26992070;27189937;27374498;27496948;27642048;28228285;28377575;28380382;28391595;28396416;28510447;28832583;28834231;28887308;28904123;29242379;29301859;29314611;29557506;29632711;29786170;29932645;30120231;30315122;30761759;30833945;30844107;31141475;31154438;31217245;31327635;31695197;31844290;31848261;32119511;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33058874;33257573;33298915;33392160;33435350;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34289383;34357683;34509645;34704252;34725712;34943861;35051231;35251023;35366151;35870450;36010968;36139014;36241641;36284347;36350374;36420423;36629048;37393492;37938771;38297121;38421106;38665916;40914422;7623837;8200987;8616157;9765290;9765291;9792106;9792662;9809442;9989622", "class_list": "", "function": "Citrate synthase lysine K215 hypoacetylation contributes to microglial citrate accumulation and pro-inflammatory functions after traumatic brain injury., [RefSeq, PubMed]; Key enzyme of the Krebs tricarboxylic acid cycle which catalyzes the synthesis of citrate from acetyl coenzyme A and oxaloacetate., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Rethinking the Citric Acid Cycle: Connecting Pyruvate Carboxylase and Citrate Synthase to the Flow of Energy and Material. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The Novel Role of Mitochondrial Citrate Synthase and Citrate in the Pathophysiology of Alzheimer's Disease. Review article, [RefSeq, PubMed]; The left-lateralisation of citrate synthase activity in the anterior cingulate cortex of male violent suicide victims., [RefSeq, PubMed]; The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [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": 2, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 13, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q71UT9;Q7KZH0;Q96FZ8;Q9BWN8", "ec_number_list": "2.1.1.-;2.3.3.1;7.1.1.2;3.6.4.10;1.4.1.3;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;1.2.4.1;7.1.1.8;1.8.1.4;5.6.1.7;2.3.1.168;2.3.1.-;2.3.1.37;4.98.1.1;1.1.1.38;2.3.1.9;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;1.1.1.37;5.3.3.8;1.3.8.1;1.3.8.5;1.1.1.42;3.1.2.2;1.1.1.41;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.7.11.2;2.7.11.-;3.4.21.92;1.1.1.35;2.7.1.23;6.2.1.-;6.2.1.4;5.6.2.3;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;6.1.1.5;2.3.1.41;3.6.1.-", "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0036440 citrate synthase activity;GO:0046912 acyltransferase activity, acyl groups converted into alkyl on transfer", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006101 citrate metabolic process;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "O75390-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06276-1", "uniprot_id": "CHLE_HUMAN", "mass": 68418.0, "length": 602, "protein_name": "Cholinesterase", "gene_name": "BCHE", "organism": "Human", "refseq_name": "cholinesterase precursor", "refseq_ac": "NP_000046", "gene_names_uniprotkb": "BCHE; CHE1", "gene_names_refseq": "BCHED; BCHE; CHE1; CHE2; E1", "protein_names_uniprotkb": "Cholinesterase; 3.1.1.8; Acylcholine acylhydrolase; Butyrylcholine esterase; Choline esterase II; Pseudocholinesterase", "protein_names_refseq": "acylcholine acylhydrolase; butyrylcholine esterase; choline esterase II; cholinesterase (serum) 2; cholinesterase 1; cholinesterase precursor; pseudocholinesterase", "tax_id": 9606, "disease": "primary progressive multiple sclerosis (Disease Ontology:DOID:0050784); stroke (Disease Ontology:DOID:0051061); trypanosomiasis (Disease Ontology:DOID:10113); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); amnestic disorder (Disease Ontology:DOID:10914); familial hyperlipidemia (Disease Ontology:DOID:1168); Huntington's disease (Disease Ontology:DOID:12858); dementia (Disease Ontology:DOID:1307); epilepsy (Disease Ontology:DOID:1826); leptospirosis (Disease Ontology:DOID:2297); coronary artery disease (Disease Ontology:DOID:3393); coronary restenosis (Disease Ontology:DOID:4247); schizophrenia (Disease Ontology:DOID:5419); dystonia (Disease Ontology:DOID:543); inherited metabolic disorder (Disease Ontology:DOID:655); hyperhomocysteinemia (Disease Ontology:DOID:9279); type 2 diabetes mellitus (Disease Ontology:DOID:9352); bacterial meningitis (Disease Ontology:DOID:9470); cannabis abuse (Disease Ontology:DOID:9505); type 1 diabetes mellitus (Disease Ontology:DOID:9744); heroin dependence (Disease Ontology:DOID:9976); butyrylcholinesterase deficiency (MONDO:MONDO:0015270)", "pathway": " (hsa:590); (R-HSA-112311); (R-HSA-1483191); (R-HSA-422085); (R-HSA-9749641)", "pathway_count": 5, "publication_count": 196, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10100195;10190327;10191259;10220572;10404729;10434065;10604470;10677542;10699053;10893425;11053835;11068039;11089560;11105732;11237011;11420179;11581266;11600536;11698453;11756331;11928765;12050285;12055623;12216837;12221122;12354137;12414809;12553549;12616642;1271425;12869558;12881446;1306123;13479831;1349196;13711731;13741103;1415224;14404182;14465122;14599721;14760718;14973250;15118850;15126574;15142980;15175005;15256494;15563885;15604212;15667209;15715662;15781196;15911624;1611188;16233931;16258079;16335952;16788378;16837570;16858120;16943252;17007874;17158099;17289852;17355286;17482904;1748670;17561512;17595255;17700357;17768338;1783992;18075469;18203274;18300943;18396350;18443287;18457821;18694939;18975951;19139490;19159218;19280057;19327128;19368529;19452557;19542320;19628676;19836360;19915674;2013061;20338778;20946535;21926997;22424782;22444575;2253336;22674043;2322535;23328280;2339692;23679855;23901139;24190977;24715725;24732803;24828044;25054547;25264279;25840124;25880248;26005868;26048993;26154972;26945070;26992070;28411811;28467828;28677105;28821867;28904123;2915989;29391424;29437277;29557506;29741879;30315122;3035536;30410026;30429286;3057511;30711999;31092671;3115973;31217245;3169798;31844290;32157095;32265295;32357974;32387766;32488085;32505227;33141586;33298915;3342084;33592498;33912179;34089345;34171305;34211107;34357683;34405274;34509645;34561969;3477799;35051231;35154160;3542989;35561310;35580925;36284347;3705620;37074911;37938771;38063500;38357546;38424490;38594621;416211;5013373;5773090;5862532;6716425;6777177;6838677;7206363;7634491;7802672;8554068;8680411;8760827;9110359;9144407;9191541;9260930;9302273;931988;9388484;9543549;9593753;9694584;975718", "class_list": "glycogene", "function": "Butyrylcholinesterase activity in patients with postoperative delirium after cardiothoracic surgery or percutaneous valve replacement- an observational interdisciplinary cohort study. Publication Status: Online-Only, [RefSeq, PubMed]; Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Human Butyrylcholinesterase Mutants for (-)-Cocaine Hydrolysis: A Correlation Relationship between Catalytic Efficiency and Total Hydrogen Bonding Energy with an Oxyanion Hole., [RefSeq, PubMed]; Onset of Alzheimer disease in apolipoprotein varepsilon4 carriers is earlier in butyrylcholinesterase K variant carriers. Publication Status: Online-Only, [RefSeq, PubMed]; Progressions of the correlation between lipid metabolism and immune infiltration characteristics in gastric cancer and identification of BCHE as a potential biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [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": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1062, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 40, "disease_count": 23, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A8K7P8", "ec_number_list": "3.1.1.8;3.1.1.-;3.1.1.7", "go_molecular_function": "GO:0033265 choline binding;GO:0016788 hydrolase activity, acting on ester bonds;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005641 nuclear envelope lumen;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0014016 neuroblast differentiation;GO:0019695 choline metabolic process;GO:0043279 response to alkaloid;GO:0007612 learning;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 24.8, "record_id": "P06276-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99675-1", "uniprot_id": "CGRF1_HUMAN", "mass": 38242.0, "length": 332, "protein_name": "Cell growth regulator with RING finger domain protein 1", "gene_name": "CGRRF1", "organism": "Human", "refseq_name": "cell growth regulator with RING finger domain protein 1", "refseq_ac": "NP_006559", "gene_names_uniprotkb": "CGRRF1; CGR19; RNF197", "gene_names_refseq": "CGR19; CGRRF1; RNF197", "protein_names_uniprotkb": "Cell growth regulator with RING finger domain protein 1; Cell growth regulatory gene 19 protein; RING finger protein 197", "protein_names_refseq": "RING finger protein 197; cell growth regulator with RING finger domain protein 1; cell growth regulatory gene 19 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10668)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;12070015;20677014;22361696;23481700;24680596;25880248;27485036;27846572;27920218;28834231;28904123;29557506;31801577;31844290;32157095;32357974;32488085;32938616;32983136;33912179;33968037;33981976;34087483;35051231;36284347;8968090", "class_list": "", "function": "Able to inhibit growth in several cell lines., [UniProtKB, UniProtKB]; CGRRF1 represents a novel, reproducible tissue marker of metformin response in the obese endometrium and our preliminary data suggests that up-regulation of CGRRF1 expression may prove clinically useful in the prevention or treatment of endometrial cancer, [RefSeq, PubMed]; Novel transcription factors identified in human CD34 antigen-positive hematopoietic stem cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; We demonstrate that CGRRF1 suppresses growth of breast cancer and its E3 ligase activity is involved in CGRRF1-mediated growth suppression. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96BX2", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0030308 negative regulation of cell growth;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q99675-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VUE5-1", "uniprot_id": "CA053_HUMAN", "mass": 15483.0, "length": 145, "protein_name": "Uncharacterized protein C1orf53", "gene_name": "C1orf53", "organism": "Human", "refseq_name": "uncharacterized protein C1orf53", "refseq_ac": "NP_001019765", "gene_names_uniprotkb": "C1orf53", "gene_names_refseq": "C1orf53", "protein_names_uniprotkb": "Uncharacterized protein C1orf53", "protein_names_refseq": "uncharacterized protein C1orf53", "tax_id": 9606, "disease": "", "pathway": " (hsa:388722)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;15897902;23186163", "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1L4N2;Q5VUE4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5VUE5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MD2-1", "uniprot_id": "KICS2_HUMAN", "mass": 50397.0, "length": 445, "protein_name": "KICSTOR subunit 2", "gene_name": "KICS2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "KICS2; C12orf66", "gene_names_refseq": "", "protein_names_uniprotkb": "KICSTOR subunit 2; KICSTOR complex protein C12orf66", "protein_names_refseq": "", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 83 (Disease Ontology:DOID:0061114)", "pathway": " (hsa:144577); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11237011;15854902;15878852;16098514;17470430;18497260;18604198;20058876;20381137;22053050;22575674;22980980;23723238;24081491;24095279;25259925;25263562;25457612;25561175;25567906;25819761;26449471;26586190;26972053;27308486;27487210;27600516;27648300;28066558;28199306;28199315;28218747;28228285;28514659;28832583;29053970;29056322;29123071;29236692;29242379;29769354;30061680;30181260;30315122;30429286;30651352;31848261;37938771;39824192;7499430", "class_list": "", "function": "As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JX54;Q8IYA0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0140007 KICSTOR complex;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0042149 cellular response to glucose starvation;GO:0034198 cellular response to amino acid starvation;GO:1904262 negative regulation of TORC1 signaling;GO:0061462 protein localization to lysosome", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q96MD2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55286-1", "uniprot_id": "CADH8_HUMAN", "mass": 88253.0, "length": 799, "protein_name": "Cadherin-8", "gene_name": "CDH8", "organism": "Human", "refseq_name": "cadherin-8 isoform 1 preproprotein", "refseq_ac": "NP_001787", "gene_names_uniprotkb": "CDH8", "gene_names_refseq": "CDH8; Nbla04261", "protein_names_uniprotkb": "Cadherin-8", "protein_names_refseq": "cadherin 8, type 2; cadherin-8 isoform 1 preproprotein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:1006); (R-HSA-418990); (R-HSA-9833576)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10225955;10861224;11237011;12050160;16467305;17967169;19354288;2059658;24190977;25372031;27651839;29557506;29632711;31844290;32387766;33968037;35051231;7806582;7982033;9219219;9845526", "class_list": "", "function": "Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types., [UniProtKB]; Results show that promoter hypermethylation of ADCY8, CDH8, and ZNF582 are correlated with high-grade squamous intraepithelial lesion. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 67, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B3KWC1;Q14DC6;Q9ULB2", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0043679 axon terminus;GO:0043083 synaptic cleft", "go_biological_process": "GO:0007155 cell adhesion;GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P55286-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUK8-1", "uniprot_id": "CBLN2_HUMAN", "mass": 24084.0, "length": 224, "protein_name": "Cerebellin-2", "gene_name": "CBLN2", "organism": "Human", "refseq_name": "cerebellin-2 precursor", "refseq_ac": "NP_872317", "gene_names_uniprotkb": "CBLN2; PRO4338", "gene_names_refseq": "CBLN2", "protein_names_uniprotkb": "Cerebellin-2", "protein_names_refseq": "cerebellin-2 precursor; cerebellin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:147381)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12975309;22117778;23090970;23502781;24190977;29557506;30539924;31844290;34599306;35051231;35494241;35580925", "class_list": "", "function": "Acts as a synaptic organizer in specific subsets of neurons in the brain. Essential for long-term maintenance but not establishment of excitatory synapses. Functions as part of a trans-synaptic complex by binding to postsynaptic GRID1 and presynaptic neurexins. This interaction helps regulate the activity of NMDA and AMPA receptors at hippocampal synapses without affecting synapse formation. NRXN1B-CBLN2-GRID1 complex transduce presynaptic signals into postsynaptic NMDAR response. NRXN3B-CBLN2-GRID1 complex transduce presynaptic signals into postsynaptic AMPAR response., [UniProtKB, UniProtKB]; An important role of CBLN2 in PAH onset despite different etiologies, [RefSeq, PubMed]; Hominini-specific regulation of CBLN2 increases prefrontal spinogenesis., [RefSeq, PubMed]; Single nucleotide polymorphisms in CBLN2 gene is associated with pulmonary arterial hypertension., [RefSeq, PubMed]; Transgenic Cbln2 can exhibit functional redundancy with Cbln1 in the cerebellum, but it does not have the same properties as Cbln1 in thalamic neurons., [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": 1, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53Z56", "ec_number_list": "", "go_molecular_function": "GO:0030545 signaling receptor regulator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0045202 synapse;GO:0043083 synaptic cleft;GO:0098820 trans-synaptic protein complex", "go_biological_process": "GO:0050808 synapse organization;GO:0099558 maintenance of synapse structure;GO:0099557 trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission;GO:0099550 trans-synaptic signaling, modulating synaptic transmission;GO:0098814 spontaneous synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8IUK8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00299-1", "uniprot_id": "CLIC1_HUMAN", "mass": 26923.0, "length": 241, "protein_name": "Chloride intracellular channel protein 1", "gene_name": "CLIC1", "organism": "Human", "refseq_name": "chloride intracellular channel protein 1", "refseq_ac": "NP_001274522", "gene_names_uniprotkb": "CLIC1; G6; NCC27", "gene_names_refseq": "CL1C1; CLCNL1; CLIC1; G6; NCC27", "protein_names_uniprotkb": "Chloride intracellular channel protein 1; 1.8.-.-; 1.8.5.1; Chloride channel ABP; Glutaredoxin-like oxidoreductase CLIC1; Glutathione-dependent dehydroascorbate reductase CLIC1; NCC27; Nuclear chloride ion channel 27; Regulatory nuclear chloride ion channel protein; hRNCC", "protein_names_refseq": "RNCC protein; chloride channel ABP; chloride intracellular channel 1; chloride intracellular channel protein 1; glutaredoxin-like oxidoreductase CLIC1; glutathione-dependent dehydroascorbate reductase CLIC1; hRNCC; nuclear chloride ion channel 27; nuclear chloride ion channel protein; p64CLCP; regulatory nuclear chloride ion channel protein", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); toxic shock syndrome (Disease Ontology:DOID:14115); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); impotence (Disease Ontology:DOID:1875); opiate dependence (Disease Ontology:DOID:2559); pituitary adenoma (Disease Ontology:DOID:3829); hyperglycemia (Disease Ontology:DOID:4195); liver cirrhosis (Disease Ontology:DOID:5082); congestive heart failure (Disease Ontology:DOID:6000); rheumatoid arthritis (Disease Ontology:DOID:7148); bacterial pneumonia (Disease Ontology:DOID:874)", "pathway": " (hsa:1192)", "pathway_count": 1, "publication_count": 130, "publication_id_list": "10.1101/2023.09.13.557529;10191309;10384126;10793131;10834939;10874038;11195932;11551966;11940526;11978800;12163479;12681486;14613939;14656967;16339885;18077418;18850721;19608861;21872626;21993680;22223895;22299025;22424782;23090970;23186163;23301498;23481700;24089665;24190977;24366607;24714562;24715725;25502872;25576301;25581026;25645385;26154972;26375851;26728094;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30410026;30429286;30484775;30524438;31020640;31217245;31611695;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34405274;34509645;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36181109;36215666;36241641;36284347;37104099;37759794;37938771;38253038;38257829;38665916;39154343;40596516;40914422;9139710", "class_list": "", "function": "A CLIC1 network coordinates matrix stiffness and the Warburg effect to promote tumor growth in pancreatic cancer., [RefSeq, PubMed]; CLIC1-mediated autophagy confers resistance to DDP in gastric cancer., [RefSeq, PubMed]; Chloride Intracellular Channel Protein 1 (CLIC1) Is a Critical Host Cellular Factor for Influenza A Virus Replication. Publication Status: Online-Only, [RefSeq, PubMed]; Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1 is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq, Jul 2008]., [RefSeq]; Comprehensive analysis of clinical prognosis and CLIC1 immune invasion in lung adenocarcinoma., [RefSeq, PubMed]; In the soluble state, catalyzes glutaredoxin-like thiol disulfide exchange reactions with reduced glutathione as electron donor. Reduces selenite and dehydroascorbate and may act as an antioxidant during oxidative stress response (PubMed:25581026, PubMed:37759794). Can insert into membranes and form voltage-dependent multi-ion conductive channels. Membrane insertion seems to be redox-regulated and may occur only under oxidizing conditions. Involved in regulation of the cell cycle., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NCC27 (CLIC1) is a 27 kDa intracellular ion channel localized to the nucleus and cytoplasm that exists in both a soluble and integral membrane form, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 14, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q15089;Q502X1", "ec_number_list": "1.8.-.-;1.8.5.1;1.11.1.-;5.6.1.6;1.20.4.2;2.5.1.18", "go_molecular_function": "GO:0045296 cadherin binding;GO:0005254 chloride channel activity;GO:0045174 glutathione dehydrogenase (ascorbate) activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0007165 signal transduction;GO:0070527 platelet aggregation;GO:0006821 chloride transport", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "O00299-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43709-1", "uniprot_id": "BUD23_HUMAN", "mass": 31880.0, "length": 281, "protein_name": "18S rRNA (guanine-N(7))-methyltransferase", "gene_name": "BUD23", "organism": "Human", "refseq_name": "18S rRNA (guanine-N(7))-methyltransferase isoform 1", "refseq_ac": "NP_001189489", "gene_names_uniprotkb": "BUD23; HUSSY-03; MERM1; PP3381; WBSCR22", "gene_names_refseq": "BUD23; HASJ4442; HUSSY-3; MERM1; PP3381; WBMT; WBSCR22", "protein_names_uniprotkb": "18S rRNA (guanine-N(7))-methyltransferase; 2.1.1.-; Bud site selection protein 23 homolog; Metastasis-related methyltransferase 1; Williams-Beuren syndrome chromosomal region 22 protein; rRNA methyltransferase and ribosome maturation factor", "protein_names_refseq": "18S rRNA (guanine-N(7))-methyltransferase isoform 1; 18S rRNA (guanine-N(7))-methyltransferase; Williams-Beuren candidate region putative methyltransferase; Williams-Beuren syndrome chromosomal region 22 protein; Williams-Beuren syndrome chromosome region 22; bud site selection protein 23 homolog; metastasis-related methyltransferase 1; probable 18S rRNA (guanine-N(7))-methyltransferase; rRNA methyltransferase and ribosome maturation factor; ribosome biogenesis methyltransferase WBSCR22", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": " (hsa:114049); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 145, "publication_id_list": "10606270;11081632;11124703;11922599;11935223;11978965;12068309;12073013;12150911;12417735;15199136;15498874;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;18991276;19033376;19106111;19332556;19463982;19564402;19801658;20038530;20047967;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21872626;21993680;22072790;22190735;22195017;22916032;23186163;23391857;23439679;23481700;23482395;2388630;24086612;24424021;24488492;24550520;24714562;24715725;25411247;25418920;25525153;25576301;25645385;25653167;25851604;25892735;25969445;26085946;26154972;26196125;26237581;26375851;26728094;26768311;26811146;26992070;27084949;27600516;27846572;27920218;28218747;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32357974;32380188;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34948388;35051231;35088887;35561310;35580925;36010968;36241641;36284347;38253038;40596516;9211966;9482744;9512526", "class_list": "", "function": "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome, [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]., [RefSeq]; WBSCR22 and TRMT112 synergistically suppress cell proliferation, invasion and tumorigenesis in pancreatic cancer via transcriptional regulation of ISG15., [RefSeq, PubMed]; WBSCR22 confers cell survival and predicts poor prognosis in glioma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "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": "A8K501;C9K060;Q96P12;Q9BQ58;Q9HBP9", "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:0016435 rRNA (guanine) methyltransferase activity;GO:0003723 RNA binding;GO:0046982 protein heterodimerization activity;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0070476 rRNA (guanine-N7)-methylation;GO:2000234 positive regulation of rRNA processing;GO:0006351 DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "O43709-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43745-1", "uniprot_id": "CHP2_HUMAN", "mass": 22452.0, "length": 196, "protein_name": "Calcineurin B homologous protein 2", "gene_name": "CHP2", "organism": "Human", "refseq_name": "calcineurin B homologous protein 2", "refseq_ac": "NP_071380", "gene_names_uniprotkb": "CHP2; HCA520", "gene_names_refseq": "CHP2", "protein_names_uniprotkb": "Calcineurin B homologous protein 2; Hepatocellular carcinoma-associated antigen 520", "protein_names_refseq": "calcineurin B homologous protein 2; hepatocellular carcinoma antigen gene 520; hepatocellular carcinoma-associated antigen 520", "tax_id": 9606, "disease": "", "pathway": " (hsa:63928)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12097419;12226101;16511206;16710297;18815128;21392185;31154438;32686600;33030853", "class_list": "", "function": "Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Binds to and activates SLC9A1/NHE1 in a serum-independent manner, thus increasing pH and protecting cells from serum deprivation-induced death. Also plays a role in the regulation of cell proliferation and tumor growth by increasing the phosphatase activity of PPP3CA in a calcium-dependent manner. Activator of the calcineurin/NFAT signaling pathway. Involved in the cytoplasmic translocation of the transcription factor NFATC3 to the nucleus., [UniProtKB, PubMed, PubMed]; Involvement of CHP2 in the Development of Non-Small Cell Lung Cancer and Patients' Poor Prognosis., [RefSeq, PubMed]; The data support the tumor-promoting potential of aberrant calcineurin B homologous protein 2 expression and position calcineurin B homologous protein 2 as a potential therapeutic target for the treatment of non-small cell lung cancer., [RefSeq, PubMed]; This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 5, "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": "A8K2I8", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0008284 positive regulation of cell population proliferation;GO:0015031 protein transport;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O43745-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60840-1", "uniprot_id": "CAC1F_HUMAN", "mass": 220678.0, "length": 1977, "protein_name": "Voltage-dependent L-type calcium channel subunit alpha-1F", "gene_name": "CACNA1F", "organism": "Human", "refseq_name": "voltage-dependent L-type calcium channel subunit alpha-1F isoform 2", "refseq_ac": "NP_001243718", "gene_names_uniprotkb": "CACNA1F; CACNAF1", "gene_names_refseq": "AIED; CACNA1F; COD3; COD4; CORDX3; CORDX; CSNB2A; CSNB2; CSNBX2; Cav1.4alpha1; Cav1.4; JM8; JMC8; OA2", "protein_names_uniprotkb": "Voltage-dependent L-type calcium channel subunit alpha-1F; Voltage-gated calcium channel subunit alpha Cav1.4", "protein_names_refseq": "calcium channel, voltage-dependent, L type, alpha 1F subunit; voltage-dependent L-type calcium channel subunit alpha-1F isoform 2; voltage-gated calcium channel subunit alpha Cav1.4", "tax_id": 9606, "disease": "congenital stationary night blindness (Disease Ontology:DOID:0050534); Aland Island eye disease (Disease Ontology:DOID:0050630); Timothy syndrome (Disease Ontology:DOID:0060173); congenital stationary night blindness 2A (Disease Ontology:DOID:0110871); X-linked cone-rod dystrophy 3 (Disease Ontology:DOID:0111007); Duchenne muscular dystrophy (Disease Ontology:DOID:11723)", "pathway": " (hsa:778)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10873387;11237011;11281458;12111638;12187427;15897456;16505158;16960802;17525176;19029287;22194652;23481700;25418920;27226626;28228285;29557506;29632046;29769354;30192525;30779550;31530632;31844290;32161166;32938616;33912179;33981976;35051231;36191840;36469668;9344658;9662399;9662400", "class_list": "", "function": "Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling., [RefSeq, PubMed]; Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series., [RefSeq, PubMed]; This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]., [RefSeq]; Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations., [UniProtKB, PubMed]; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "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": "A6NI29;F5CIQ9;O43901;O95226;Q9UHB1", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0046872 metal ion binding;GO:0005245 voltage-gated calcium channel activity;GO:0008331 high voltage-gated calcium channel activity", "go_cellular_component": "GO:0016020 membrane;GO:0043204 perikaryon;GO:0001750 photoreceptor outer segment;GO:0005891 voltage-gated calcium channel complex", "go_biological_process": "GO:0007601 visual perception;GO:0050908 detection of light stimulus involved in visual perception;GO:1901386 negative regulation of voltage-gated calcium channel activity;GO:0098703 calcium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "O60840-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75122-1", "uniprot_id": "CLAP2_HUMAN", "mass": 141064.0, "length": 1294, "protein_name": "CLIP-associating protein 2", "gene_name": "CLASP2", "organism": "Human", "refseq_name": "CLIP-associating protein 2 isoform 2", "refseq_ac": "NP_001193973", "gene_names_uniprotkb": "CLASP2; KIAA0627", "gene_names_refseq": "CLASP2", "protein_names_uniprotkb": "CLIP-associating protein 2; Cytoplasmic linker-associated protein 2; Protein Orbit homolog 2; hOrbit2", "protein_names_refseq": "CLIP-associating protein 2 isoform 2; CLIP-associating protein 2; CLIP-associating protein CLASP2; multiple asters (Mast)-like homolog 2; protein Orbit homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23122); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-428890); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 159, "publication_id_list": "10.1101/2023.09.13.557529;10411507;10600384;10678165;10892742;10958683;11081627;11181178;11237011;11290329;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15207236;15339662;15507212;15631994;15723797;15737063;15864301;15866170;15944396;15955847;16292343;16439214;16541025;16622419;16622420;16682347;16824950;16866869;16890222;16914514;16943183;17030981;17112726;17113138;17129783;17196341;17198702;1737036;17525332;17543864;18001770;18097444;18669648;18716626;18923426;19350017;19367720;19632184;19690332;19696148;19815554;19965387;20030946;20068231;20101212;20591975;20937854;21111234;21148482;21397845;21406692;21576392;21868368;21878504;21987589;22094460;22275430;22299025;22608513;22790947;22885700;23045552;23186163;23222643;23301498;23481700;23801653;24275569;24914801;25418920;25645385;25740311;25789526;25892735;26003921;27600516;27862975;27920218;28228285;28446606;28657654;28832583;28834231;28855257;29242379;29314611;29393594;29557506;29632711;30315122;30429286;31324691;31373491;31409757;31844290;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33587225;33592498;33717175;33936100;33968037;34087483;34171305;34211107;34260926;34357683;34509645;34525355;34932366;35051231;35154160;35580925;36010968;36241641;36284347;36598814;36598991;37217939;37938771;40307207;40914422;9649308;9649503;9892021", "class_list": "", "function": "CLASP2 facilitates dynamic actin filament organization along the microtubule lattice., [RefSeq, PubMed]; CLASP2 recognizes tubulins exposed at the microtubule plus-end in a nucleotide state-sensitive manner., [RefSeq, PubMed]; Cyclical phosphorylation of LRAP35a and CLASP2 by GSK3beta and CK1delta regulates EB1-dependent MT dynamics in cell migration., [RefSeq, PubMed]; Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules (PubMed:26003921). Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2 (PubMed:16824950). This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle (PubMed:16866869, PubMed:16914514). Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Microtubule plus-end tracking protein that promotes the stabilization of dynamic microtubules. Involved in the nucleation of noncentrosomal microtubules originating from the trans-Golgi network (TGN). Required for the polarization of the cytoplasmic microtubule arrays in migrating cells towards the leading edge of the cell. May act at the cell cortex to enhance the frequency of rescue of depolymerizing microtubules by attaching their plus-ends to cortical platforms composed of ERC1 and PHLDB2. This cortical microtubule stabilizing activity is regulated at least in part by phosphatidylinositol 3-kinase signaling. Also performs a similar stabilizing function at the kinetochore which is essential for the bipolar alignment of chromosomes on the mitotic spindle., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Propose that CLASP1 and CLASP2 can mediate interactions between microtubule plus ends and the cell cortex and act as local rescue factors, possibly through forming a complex with EB1 at microtubule tips, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 29, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 19, "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": "B2RTR1;F5H604;Q7L8F6;Q8N6R6;Q9BQT3;Q9BQT4;Q9H7A3;Q9NSZ2", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0051015 actin filament binding;GO:0002162 dystroglycan binding;GO:0051010 microtubule plus-end binding;GO:1990782 protein tyrosine kinase binding", "go_cellular_component": "GO:0005828 kinetochore microtubule;GO:0045180 basal cortex;GO:1903754 cortical microtubule plus-end;GO:0098978 glutamatergic synapse;GO:0030981 cortical microtubule cytoskeleton", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:1903690 negative regulation of wound healing, spreading of epidermal cells;GO:0032956 regulation of actin cytoskeleton organization;GO:0051301 cell division;GO:0090307 mitotic spindle assembly", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "O75122-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75309-1", "uniprot_id": "CAD16_HUMAN", "mass": 89923.0, "length": 829, "protein_name": "Cadherin-16", "gene_name": "CDH16", "organism": "Human", "refseq_name": "cadherin-16 isoform 2 precursor", "refseq_ac": "NP_001191673", "gene_names_uniprotkb": "CDH16; PRO1340", "gene_names_refseq": "CDH16", "protein_names_uniprotkb": "Cadherin-16; Kidney-specific cadherin; Ksp-cadherin", "protein_names_refseq": "KSP-cadherin; cadherin 16, KSP-cadherin; cadherin-16 isoform 2 precursor; kidney-specific cadherin", "tax_id": 9606, "disease": "thyroid cancer (Disease Ontology:DOID:1781)", "pathway": " (hsa:1014)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12975309;22028439;26355662;29242379;29557506;30459171;32387766;35051231;35606285;37899424;9721215", "class_list": "", "function": "Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types., [UniProtKB, UniProtKB, UniProtKB]; In thyroid carcinomas, as determined by quantitative RT-PCR, CDH16 expression decreases in papillary, follicular, and anaplastic thyroid carcinomas, and the decrease is more pronounced than that of CDH1., [RefSeq, PubMed]; Loss of CDH16 expression is a strong independent predictor for lymph node metastasis in Middle Eastern papillary thyroid cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Our study expands the clinical and allelic spectrum of known Retinal dystrophies genes, and reveals AGBL5, CDH16, and DNAJC17 as novel disease candidates., [RefSeq, PubMed]; Reduced CDH16 expression is linked to poor prognosis in clear cell renal cell carcinoma 16., [RefSeq, PubMed]; This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DPA8;H3BPD3;Q6UW93", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0045202 synapse;GO:0070062 extracellular exosome;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0098609 cell-cell adhesion;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "O75309-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75952-1", "uniprot_id": "CABYR_HUMAN", "mass": 52774.0, "length": 493, "protein_name": "Calcium-binding tyrosine phosphorylation-regulated protein", "gene_name": "CABYR", "organism": "Human", "refseq_name": "calcium-binding tyrosine phosphorylation-regulated protein isoform a", "refseq_ac": "NP_036321", "gene_names_uniprotkb": "CABYR; CBP86; FSP2", "gene_names_refseq": "CABYRa; CABYRc/d; CABYRc; CABYRe; CABYR; CBP86; CT88; FSP-2; FSP2", "protein_names_uniprotkb": "Calcium-binding tyrosine phosphorylation-regulated protein; CT88; Calcium-binding protein 86; Cancer/testis antigen 88; FSP-2; Fibrousheathin II; Fibrousheathin-2; Testis-specific calcium-binding protein CBP86", "protein_names_refseq": "calcium binding tyrosine-(Y)-phosphorylation regulated (fibrousheathin 2); calcium-binding protein 86; calcium-binding tyrosine phosphorylation-regulated protein isoform a; calcium-binding tyrosine phosphorylation-regulated protein; cancer/testis antigen 88; fibrousheathin II; fibrousheathin-2; testis tissue sperm-binding protein Li 84P; testis-specific calcium-binding protein CBP86", "tax_id": 9606, "disease": "male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:26256)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;11820818;12509440;15752768;16139264;24715725;28121627;29242379;29247344;30972801;31692072;31844290;31848261;32157095;35051231;38253038", "class_list": "", "function": "Low CABYR expression is associated with colon cancer., [RefSeq, PubMed]; May function as a regulator of both motility- and head-associated functions such as capacitation and the acrosome reaction. Isoform 1 binds calcium in vitro. Isoform 2 and isoform 6 probably bind calcium. Isoform 3 and isoform 5 do not bind calcium in vitro. Isoform 4 probably does not bind calcium., [UniProtKB]; Northern blot showed that CABYR transcripts were expressed more distinctly in the fetal brain than in the adult brain, suggesting that this protein may play a role during brain development., [RefSeq, PubMed]; Sequencing, cloning, expression and characterization, [RefSeq, PubMed]; Splice variants containing CR-B are expressed during spermiogenesis and assemble into the fibrous sheath of the principal piece; however, calcium binding occurs only to those CABYR isoforms containing CABYR-A, [RefSeq, PubMed]; Study of (Co-IP) and reverse co-immunoprecipitation (Co-IP) of CBP86-IV (TSCBP86-IV or CABYR) in human sperm cell lysate identified phosphoglycerate kinase 2 (PGK2) as interacting partner of CABYR. Protein interactions were further confirmed by yeast two-hybrid system., [RefSeq, PubMed]; There is downregulation of both ROPN1 and CABYR in asthenozoospermic samples and importantly, a positive correlation between the expression of the two genes, suggesting that ROPN1 and CABYR co-expression is a prerequisite for normal flagellar function and sperm motility., [RefSeq, PubMed]; To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]., [RefSeq]; Upregulated calcium-binding tyrosine phosphorylation-regulated protein-a/b regulates cell proliferation and apoptosis and predicts poor prognosis 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": 9, "reported_mutagensis": 5, "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": "B2R857;Q8WXW5;Q9HAY3;Q9HAY4;Q9HAY5;Q9HCY9", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0019899 enzyme binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0003351 epithelial cilium movement involved in extracellular fluid movement;GO:0048240 sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "O75952-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95180-1", "uniprot_id": "CAC1H_HUMAN", "mass": 259163.0, "length": 2353, "protein_name": "Voltage-dependent T-type calcium channel subunit alpha-1H", "gene_name": "CACNA1H", "organism": "Human", "refseq_name": "voltage-dependent T-type calcium channel subunit alpha-1H isoform b", "refseq_ac": "NP_001005407", "gene_names_uniprotkb": "CACNA1H", "gene_names_refseq": "CACNA1HB; CACNA1H; Cav3.2; ECA6; EIG6; HALD4", "protein_names_uniprotkb": "Voltage-dependent T-type calcium channel subunit alpha-1H; Low-voltage-activated calcium channel alpha1 3.2 subunit; Voltage-gated calcium channel subunit alpha Cav3.2", "protein_names_refseq": "calcium channel, voltage-dependent, T type, alpha 1H subunit; calcium channel, voltage-dependent, T type, alpha 1Hb subunit; low-voltage-activated calcium channel alpha1 3.2 subunit; low-voltage-activated calcium channel alpha13.2 subunit; voltage dependent t-type calcium channel alpha-1H subunit; voltage-dependent T-type calcium channel subunit alpha-1H isoform b; voltage-dependent T-type calcium channel subunit alpha-1H; voltage-gated calcium channel alpha subunit Cav3.2; voltage-gated calcium channel alpha subunit CavT.2; voltage-gated calcium channel subunit alpha Cav3.2", "tax_id": 9606, "disease": "familial hyperaldosteronism IV (Disease Ontology:DOID:0061250); sciatic neuropathy (Disease Ontology:DOID:11446); childhood absence epilepsy (Disease Ontology:DOID:1825); primary hyperaldosteronism (Disease Ontology:DOID:446); epilepsy, childhood absence, susceptibility to, 6 (MONDO:MONDO:0012763)", "pathway": " (hsa:8912); (R-HSA-419037); (R-HSA-445355); (R-HSA-9856532)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;10991994;11237011;11242081;11457814;11532985;11751928;11889009;12048254;12765789;12891677;14506282;14627618;15048902;15304325;15377279;156362;16267048;17055381;17081983;17483156;18059411;18974361;19131331;1930128;19380584;19940152;22421042;22778174;23479567;23481700;23503728;23695678;23834404;24277868;24872348;2526655;25645385;25907736;26362469;26637798;27149520;2764880;27679490;27729216;27797339;27864847;2809592;28501589;28741090;29393594;29557506;30197081;31844290;32387766;32502341;32938616;32983136;33176830;33968037;34087483;35051231;35254053;35580925;36010968;36073542;36241641;36397158;36786913;3780718;38253038;38554447;38864697;39105964;8262246;8858389;9038151;9398268;9481611;9598563;9600334;9670923;9855623;9930755", "class_list": "", "function": "CACNA1H restrains chemotherapy resistance in ovarian clear cell carcinoma cells by repressing autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Electrophysiological and computational analysis of Cav3.2 channel variants associated with familial trigeminal neuralgia. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variants and down-regulation of CACNA1H in pheochromocytoma. Publication Status: Online-Only, [RefSeq, PubMed]; The mmu_circ_003062, hsa_circ_0075663/miR-490-3p/CACNA1H axis mediates apoptosis in renal tubular cells in association with endoplasmic reticulum stress following ischemic acute kidney injury., [RefSeq, PubMed]; This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]., [RefSeq]; Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:27149520, PubMed:9670923, PubMed:9930755). T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902). In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "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": 123, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 5, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B5ME00;F8WFD1;O95802;Q8WWI6;Q96QI6;Q96RZ9;Q9NYY4;Q9NYY5", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0046872 metal ion binding;GO:0097110 scaffold protein binding;GO:0005244 voltage-gated monoatomic ion channel activity;GO:0005245 voltage-gated calcium channel activity;GO:0008331 high voltage-gated calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005891 voltage-gated calcium channel complex", "go_biological_process": "GO:2000344 positive regulation of acrosome reaction;GO:0006936 muscle contraction;GO:0042391 regulation of membrane potential;GO:0055085 transmembrane transport;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O95180-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15088-1", "uniprot_id": "CBPA3_HUMAN", "mass": 48670.0, "length": 417, "protein_name": "Mast cell carboxypeptidase A", "gene_name": "CPA3", "organism": "Human", "refseq_name": "mast cell carboxypeptidase A preproprotein", "refseq_ac": "NP_001861", "gene_names_uniprotkb": "CPA3", "gene_names_refseq": "CPA3; MC-CPA", "protein_names_uniprotkb": "Mast cell carboxypeptidase A; 3.4.17.1; Carboxypeptidase A3; MC-CPA", "protein_names_refseq": "carboxypeptidase A3 (mast cell); mast cell carboxypeptidase A preproprotein; mast cell carboxypeptidase A; tissue carboxypeptidase A", "tax_id": 9606, "disease": "multiple sclerosis (Disease Ontology:DOID:2377)", "pathway": " (hsa:1359); (R-HSA-2022377)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10536878;10899625;10924499;10969042;11502696;11815627;12045255;12540854;12927775;14747736;15283675;1629626;1668266;16790432;17138938;1729276;17704566;1848554;1851160;19800993;20380117;20889553;22193701;2266130;23446738;24141856;2443571;25418920;2558510;2594780;26154972;2708524;27157394;2846041;29512095;29557506;29741879;29786170;3017438;31154438;31530632;31848261;33392160;33968037;34057753;34185709;35051231;36284347;37074911;383475;4289389;4322712;4330891;4360430;6269175;6270633;6303766;6807977;7980644;9169443;9570564", "class_list": "", "function": "Carboxypeptidase A3 was differentially expressed between Fibromyalgia patients and healthy controls., [RefSeq, PubMed]; Decreased serum level of carboxypeptidase is a hallmark of more advanced coronary artery disease., [RefSeq, PubMed]; Severe COVID-19 is marked by dysregulated serum levels of carboxypeptidase A3 and serotonin., [RefSeq, PubMed]; This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein is proteolytically processed to generate a mature protease that is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Expression of this gene may be elevated in human asthma patients. [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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 7, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96E94", "ec_number_list": "3.4.17.2;3.4.17.1;3.4.17.20", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule;GO:0031012 extracellular matrix;GO:0030133 transport vesicle", "go_biological_process": "GO:0006508 proteolysis;GO:0002003 angiotensin maturation", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P15088-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28329-1", "uniprot_id": "CLAT_HUMAN", "mass": 82536.0, "length": 748, "protein_name": "Choline O-acetyltransferase", "gene_name": "CHAT", "organism": "Human", "refseq_name": "choline O-acetyltransferase isoform 1", "refseq_ac": "NP_001136401", "gene_names_uniprotkb": "CHAT", "gene_names_refseq": "CHAT; CHOACTASE; CMS1A2; CMS1A; CMS6", "protein_names_uniprotkb": "Choline O-acetyltransferase; 2.3.1.6; CHOACTase; ChAT; Choline acetylase", "protein_names_refseq": "acetyl CoA:choline O-acetyltransferase; choline O-acetyltransferase isoform 1; choline acetylase", "tax_id": 9606, "disease": "congenital myasthenic syndrome 6 (Disease Ontology:DOID:0110671); Alzheimer's disease (Disease Ontology:DOID:10652); depressive disorder (Disease Ontology:DOID:1596); asthma (Disease Ontology:DOID:2841); congenital myasthenic syndrome (Disease Ontology:DOID:3635)", "pathway": " (hsa:1103); (R-HSA-1483191); (R-HSA-264642)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10100195;10191259;10440375;10677542;10861222;10893425;11027560;11068039;11172068;11237011;11420179;11698453;12055623;12216837;12221122;12486117;12519779;12756141;1337937;1339386;1388731;14973250;15175005;15381704;15715662;15911624;15935055;17007874;17144655;17158099;17478680;17561512;1784419;17891149;17989281;18694939;19664994;19915674;20338778;21926997;23328280;23901139;24732803;24828044;26005868;26048993;26945070;28821867;29237092;29731959;3057511;30779550;30833945;3183663;34743284;35051231;36727317;37813167;8071310;9593753;9701566", "class_list": "", "function": "Catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Choline-acetyltransferase (ChAT) and acetylcholinesterase (AChE) in the human infant dorsal motor nucleus of the Vagus (DMNV), and alterations according to sudden infant death syndrome (SIDS) category., [RefSeq, PubMed]; Genetic associations in CHAT and COL11A1 with primary angle-closure glaucoma susceptibility: A systematic review and meta-analysis., [RefSeq, PubMed]; Immunohistochemical Expression of Choline Acetyltransferase and Catecholamine-Synthesizing Enzymes in Head-and-Neck and Thoracoabdominal Paragangliomas and Pheochromocytomas., [RefSeq, PubMed]; This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [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": 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": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A2BDF4;A2BDF5;Q16488;Q9BQ23;Q9BQ35;Q9BQE1", "ec_number_list": "2.3.1.6", "go_molecular_function": "GO:0004102 choline O-acetyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse;GO:0043005 neuron projection", "go_biological_process": "GO:0007274 neuromuscular synaptic transmission;GO:0006656 phosphatidylcholine biosynthetic process;GO:0008292 acetylcholine biosynthetic process;GO:0006836 neurotransmitter transport", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P28329-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48729-1", "uniprot_id": "KC1A_HUMAN", "mass": 38915.0, "length": 337, "protein_name": "Casein kinase I isoform alpha", "gene_name": "CSNK1A1", "organism": "Human", "refseq_name": "casein kinase I isoform alpha isoform 1", "refseq_ac": "NP_001020276", "gene_names_uniprotkb": "CSNK1A1", "gene_names_refseq": "CK1a; CK1; CKIa; CSNK1A1; HEL-S-77p; HLCDGP1; PRO2975", "protein_names_uniprotkb": "Casein kinase I isoform alpha; 2.7.11.1; CK1; CKI-alpha", "protein_names_refseq": "CKI-alpha; casein kinase I isoform alpha isoform 1; clock regulator kinase; down-regulated in lung cancer; epididymis secretory sperm binding protein Li 77p", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability Najm type (Disease Ontology:DOID:0060807); Alzheimer's disease (Disease Ontology:DOID:10652); Huntington's disease (Disease Ontology:DOID:12858); thrombocytopenia (Disease Ontology:DOID:1588); pancreatic cancer (Disease Ontology:DOID:1793); inclusion body myositis (Disease Ontology:DOID:3429); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hyperglycemia (Disease Ontology:DOID:4195); cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:1452); (R-HSA-195253); (R-HSA-196299); (R-HSA-4641262); (R-HSA-5339716); (R-HSA-5358747); (R-HSA-5358749); (R-HSA-5358751); (R-HSA-5358752); (R-HSA-5467337); (R-HSA-5467340); (R-HSA-5467348); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5635838); (R-HSA-69601); (R-HSA-9694631)", "pathway_count": 17, "publication_count": 248, "publication_id_list": "10023660;10092233;10196136;10421629;10428961;10481074;10487827;10581160;10684251;10693759;10698523;10700176;10749138;10827953;10862053;10921899;10966113;11237011;11298456;11336703;11375957;11522655;11707456;11738041;11746989;11861647;11955436;12000790;12067995;12101426;12234927;12399544;12439748;12474228;12554650;12676583;12676925;12759351;12820959;12963847;1409656;14603323;14614827;14636583;14681206;14731402;15073180;15084453;15306667;15327769;15498874;15618519;15681612;15691767;15735151;15848177;16082208;16136078;16341016;16341017;16371461;16565220;16611981;16630821;16705181;16753179;16890161;16908539;16964243;17143292;17183061;17204608;17283082;17318175;17344846;17510365;17529994;17569865;17641202;17960137;18077588;18167338;18281465;18305108;18311776;18339531;18362152;18480045;18497258;18606139;18632848;18691976;18757411;18815277;19007248;19056373;19061640;19107203;19196978;19218434;19237556;19365551;19413330;19608861;19619488;19664995;19691289;19734889;19760609;19802005;19948480;20068231;20154143;20227366;20348946;20844016;21183070;21183076;21248786;21252624;21252990;21356043;21659505;21695114;21921029;22017875;22017877;22101459;22277298;22438566;22761442;22981989;22986504;23026747;23074275;23186163;23256519;23481700;23579495;23719536;23877428;23902688;24582806;24714562;24715725;24845016;24925320;25418920;25576301;25645385;26154972;26598975;26758079;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28904123;29199039;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789297;30315122;30429286;30524438;30779550;31154438;31338967;31530632;31844290;31848261;32029454;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32637943;32645325;32723359;32817937;32877642;32938616;32983136;33141586;33248025;33298915;33537174;33592498;33691108;33717175;33936100;33968037;33981976;33997890;34019948;34029587;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;35008409;35051231;35154160;35251023;35318648;35580925;36010968;36241641;36284347;37217939;38228616;38254663;38728403;38940554;7797465;8050587;8259518;8259519;8638126;8757136;9034327;9065402;9230313;9482734;9556553;9601641;9635432;9990852", "class_list": "", "function": "Casein Kinase 1 Phosphomimetic Mutations Negatively Impact Connexin-43 Gap Junctions in Human Pluripotent Stem Cell-Derived Cardiomyocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Casein kinase 1alpha mediates phosphorylation of the Merkel cell polyomavirus large T antigen for beta-TrCP destruction complex interaction and subsequent degradation., [RefSeq, PubMed]; Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates (PubMed:11955436, PubMed:1409656, PubMed:18305108, PubMed:23902688). It can phosphorylate a large number of proteins (PubMed:11955436, PubMed:1409656, PubMed:18305108, PubMed:23902688). Participates in Wnt signaling (PubMed:11955436). Phosphorylates CTNNB1 at 'Ser-45' (PubMed:11955436). May phosphorylate PER1 and PER2 (By similarity). May play a role in segregating chromosomes during mitosis (PubMed:1409656). May play a role in keratin cytoskeleton disassembly and thereby, it may regulate epithelial cell migration (PubMed:23902688). Acts as a positive regulator of mTORC1 and mTORC2 signaling in response to nutrients by mediating phosphorylation of DEPTOR inhibitor (PubMed:22017875, PubMed:22017877). Acts as an inhibitor of NLRP3 inflammasome assembly by mediating phosphorylation of NLRP3 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Selective CK1alpha degraders exert antiproliferative activity against a broad range of human cancer cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate displacement of CK1 C-termini regulates kinase specificity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 2, "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": "D3DQG0;D3DQG1;Q4JJA0;Q5U046;Q5U047;Q6FGA2;Q71TU5;Q96HD2;Q9UDK3", "ec_number_list": "2.7.11.1;2.7.11.21;3.4.19.12;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;2.7.11.15;2.7.11.16;3.4.25.1;3.1.3.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.1.3.16;2.3.2.27;2.3.2.32;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:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0031670 cellular response to nutrient;GO:0019082 viral protein processing;GO:0006468 protein phosphorylation;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 25.1, "record_id": "P48729-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54289-1", "uniprot_id": "CA2D1_HUMAN", "mass": 124568.0, "length": 1103, "protein_name": "Voltage-dependent calcium channel subunit alpha-2/delta-1", "gene_name": "CACNA2D1", "organism": "Human", "refseq_name": "voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 1 preproprotein", "refseq_ac": "NP_000713", "gene_names_uniprotkb": "CACNA2D1; CACNL2A; CCHL2A; MHS3", "gene_names_refseq": "CACNA2D1; CACNA2; CACNL2A; CCHL2A; DEE110; LINC01112; lncRNA-N3", "protein_names_uniprotkb": "Voltage-dependent calcium channel subunit alpha-2/delta-1; Voltage-gated calcium channel subunit alpha-2/delta-1", "protein_names_refseq": "alpha2delta-1; calcium channel, L type, alpha 2 polypeptide; calcium channel, voltage-dependent, alpha 2/delta subunit 1; dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunit; voltage-dependent calcium channel subunit alpha-2/delta-1 isoform 1 preproprotein; voltage-gated calcium channel subunit alpha-2/delta-1", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); developmental and epileptic encephalopathy 110 (Disease Ontology:DOID:0070395); brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:781); (R-HSA-9856532)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10.1101/2023.09.13.557529;11237011;1309651;15304325;16335952;17483156;19159218;22054663;23090970;23479567;23695678;24190977;25645385;27797339;27862975;29391424;29557506;29671580;29741879;30429286;31154438;31844290;32157095;32350084;32387766;32488085;32938616;32983136;33043033;33141586;33537174;33592498;33968037;34087483;34171305;34234349;34509645;35051231;35293990;35494241;35580925;36010968;36215666;36241641;37074911;37196677;37972591;38536483;38665916;8107964;9038151", "class_list": "", "function": "Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy., [RefSeq, PubMed]; CACNA2D1 regulates the progression and influences the microenvironment of colon cancer., [RefSeq, PubMed]; EMC chaperone-CaV structure reveals an ion channel assembly intermediate., [RefSeq, PubMed]; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role in excitation-contraction coupling (By similarity)., [UniProtKB, PubMed]; The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 15, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 11, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 16, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 16, "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": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 54, "disease_count": 3, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "Q17R45;Q9UD80;Q9UD81;Q9UD82", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0005245 voltage-gated calcium channel activity;GO:0005262 calcium channel activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0098992 neuronal dense core vesicle;GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0086048 membrane depolarization during bundle of His cell action potential;GO:1904646 cellular response to amyloid-beta;GO:0006816 calcium ion transport;GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0051924 regulation of calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P54289-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55289-1", "uniprot_id": "CAD12_HUMAN", "mass": 88332.0, "length": 794, "protein_name": "Cadherin-12", "gene_name": "CDH12", "organism": "Human", "refseq_name": "cadherin-12 isoform 1 preproprotein", "refseq_ac": "NP_001304156", "gene_names_uniprotkb": "CDH12", "gene_names_refseq": "CDH12; CDHB", "protein_names_uniprotkb": "Cadherin-12; BR-cadherin; Brain cadherin; N-cadherin 2; Neural type cadherin 2", "protein_names_refseq": "Br-cadherin; N-cadherin 2; brain-cadherin; cadherin, neural type, 2; cadherin-12 isoform 1 preproprotein; neural type cadherin 2; neuronal cadherin 2", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:1010); (R-HSA-418990)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;10225955;12050160;16467305;17924679;17967169;19354288;25372031;26762412;31844290;31911611;33968037;34385456;35051231;35494241;36141853;7731968;7806582;7982033;9219219;9845526", "class_list": "", "function": "An N-Cadherin 2 expressing epithelial cell subpopulation predicts response to surgery, chemotherapy and immunotherapy in bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CDH12 may influence CRC cell progression., [RefSeq, PubMed]; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types., [UniProtKB]; Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family., [RefSeq, PubMed]; The Role of Cadherin 12 (CDH12) in the Peritoneal Fluid among Patients with Endometriosis and Endometriosis-Related Infertility. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RBT1;B7Z2U6;Q86UD2", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016342 catenin complex", "go_biological_process": "GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0034332 adherens junction organization", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P55289-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56539-1", "uniprot_id": "CAV3_HUMAN", "mass": 17259.0, "length": 151, "protein_name": "Caveolin-3", "gene_name": "CAV3", "organism": "Human", "refseq_name": "caveolin-3", "refseq_ac": "NP_001225", "gene_names_uniprotkb": "CAV3", "gene_names_refseq": "CAV3; LGMD1C; LQT9; MPDT; RMD2; VIP-21; VIP21", "protein_names_uniprotkb": "Caveolin-3; M-caveolin", "protein_names_refseq": "M-caveolin; caveolin-3; cavolin 3", "tax_id": 9606, "disease": "rippling muscle disease 2 (Disease Ontology:DOID:0060255); familial hypertrophic cardiomyopathy (Disease Ontology:DOID:0080326); hypertrophic cardiomyopathy 1 (Disease Ontology:DOID:0110307); long QT syndrome 9 (Disease Ontology:DOID:0110650); distal myopathy Tateyama type (Disease Ontology:DOID:0111191); isolated elevated serum creatine phosphokinase levels (Disease Ontology:DOID:0111338); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); myocardial infarction (Disease Ontology:DOID:5844); sudden infant death syndrome (Disease Ontology:DOID:9007); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:859); (R-HSA-445355)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10746614;10988290;10991994;11001938;11242081;11251997;11431690;11457814;11532985;11756609;11805270;11889009;12048254;12082049;12557291;12666119;12939441;14506282;14627618;14663034;14672715;15099591;15377279;15564037;15580566;156362;15668980;16458928;17055381;17060380;17275750;18974361;19262564;1930128;19380584;21362625;22421042;22778174;23834404;24567387;24872348;2526655;26362469;26497963;2764880;27679490;28741090;29557506;32488085;33592498;34932366;35051231;35580925;36279179;36989524;37659676;3780718;37893228;39201459;8858389;9481611;9536092;9537420;9545514;9598563;9600334;9855623", "class_list": "", "function": "Caveolin and NOS in the Development of Muscular Dystrophy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Differential Expression of Caveolin-3, Suppression of Tumorigenicity 2, and Growth Differentiation Factor-15 Genes and Their Association with Acute Myocardial Infarction: A Cross-Sectional Study in a Multi-Specialty Hospital in Tamil Nadu., [RefSeq, PubMed]; Genetic Defect in Submucosal Gland-Associated Caveolin-3: A New Paradigm in Esophageal Adenocarcinoma Risk., [RefSeq, PubMed]; May act as a scaffolding protein within caveolar membranes. Interacts directly with G protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (PubMed:19262564)., [UniProtKB, PubMed, UniProtKB]; The T-type calcium channel Ca V 3.2 regulates bladder afferent responses to mechanical stimuli., [RefSeq, PubMed]; This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K777;Q3T1A4", "ec_number_list": "", "go_molecular_function": "GO:0019870 potassium channel inhibitor activity;GO:0071253 connexin binding;GO:0060090 molecular adaptor activity;GO:0005246 calcium channel regulator activity;GO:0017080 sodium channel regulator activity", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0031579 membrane raft organization;GO:0035995 detection of muscle stretch;GO:0038009 regulation of signal transduction by receptor internalization;GO:0051394 regulation of nerve growth factor receptor activity;GO:0060299 negative regulation of sarcomere organization", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P56539-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01668-1", "uniprot_id": "CAC1D_HUMAN", "mass": 245141.0, "length": 2161, "protein_name": "Voltage-dependent L-type calcium channel subunit alpha-1D", "gene_name": "CACNA1D", "organism": "Human", "refseq_name": "voltage-dependent L-type calcium channel subunit alpha-1D isoform a", "refseq_ac": "NP_000711", "gene_names_uniprotkb": "CACNA1D; CACH3; CACN4; CACNL1A2; CCHL1A2", "gene_names_refseq": "CACH3; CACN4; CACNA1D; CACNL1A2; CCHL1A2; Cav1.3; PASNA; SANDD", "protein_names_uniprotkb": "Voltage-dependent L-type calcium channel subunit alpha-1D; Calcium channel, L type, alpha-1 polypeptide, isoform 2; Voltage-gated calcium channel subunit alpha Cav1.3", "protein_names_refseq": "calcium channel, L type, alpha-1 polypeptide; calcium channel, neuroendocrine/brain-type, alpha 1 subunit; calcium channel, voltage-dependent, L type, alpha 1D subunit; voltage-dependent L-type calcium channel subunit alpha-1D isoform a; voltage-gated calcium channel alpha 1 subunit; voltage-gated calcium channel alpha subunit Cav1.3", "tax_id": 9606, "disease": "Timothy syndrome (Disease Ontology:DOID:0060173); sciatic neuropathy (Disease Ontology:DOID:11446); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); congenital heart disease (Disease Ontology:DOID:1682); schizophrenia (Disease Ontology:DOID:5419); type 2 diabetes mellitus (Disease Ontology:DOID:9352); sinoatrial node dysfunction and deafness (MONDO:MONDO:0013960); aldosterone-producing adenoma with seizures and neurological abnormalities (MONDO:MONDO:0014200)", "pathway": " (hsa:776); (R-HSA-400042); (R-HSA-419037); (R-HSA-422356); (R-HSA-9662360)", "pathway_count": 5, "publication_count": 134, "publication_id_list": "10.1101/2023.09.13.557529;10025409;10194514;10206966;10342826;10424882;10449730;10526167;10773014;10866047;10868950;10948191;11078440;11078469;11163272;11237011;11264248;11577798;11716850;11780755;11815450;11815460;11815462;11815463;11873862;12196472;12403834;12475777;12684222;12764427;12765789;12887316;1309651;1309948;1335101;13459201;14514350;15000528;15305887;15504896;15572341;15585596;15678092;16267048;16332676;16352729;16371464;16373322;16443778;1645720;16513675;16556766;16714477;16868246;16973824;17021801;17095603;17259518;17380317;17660294;17900700;17919183;18059411;18162464;18346985;18482979;1849000;18596924;19074150;19258039;19587354;20086079;21131953;21280120;22495309;22542183;23469060;23481700;23913001;23992284;24715725;25620733;26517901;2809592;28411811;28472301;28489076;29108130;29557506;30573663;31067468;31154438;31844290;32157095;32350084;32938616;35051231;3517644;35318648;37217939;37698939;37846579;38378373;38553610;38783117;3923453;6019353;6424440;6435940;7557998;7589840;7593639;7641683;7929812;8027028;8099279;8262246;8277227;8457197;8662784;8675920;8778232;8987985;8997178;9350615;9398268;9707174;9726229;9739505;9751501;9760042;9894156;9914469;9920805", "class_list": "", "function": "Association between CACNA1D polymorphisms and hypospadias in a southern Chinese population., [RefSeq, PubMed]; CACNA1D Gene Polymorphisms Associate With Increased Blood Pressure and Salt Sensitivity of Blood Pressure in White Individuals., [RefSeq, PubMed]; CaV1.3 channel clusters characterized by live-cell and isolated plasma membrane nanoscopy. Publication Status: Online-Only, [RefSeq, PubMed]; Pathogenicity of de novo CACNA1D Ca[2+] channel variants predicted from sequence co-variation., [RefSeq, PubMed]; The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice. Publication Status: Online-Only, [RefSeq, PubMed]; Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 7, "predicted_n_glycosites": 3, "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": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 8, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B0FYA3;Q13916;Q13931;Q71UT1;Q9UDC3", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0046872 metal ion binding;GO:0051393 alpha-actinin binding;GO:0030506 ankyrin binding;GO:0086007 voltage-gated calcium channel activity involved in cardiac muscle cell action potential", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030018 Z disc;GO:1990454 L-type voltage-gated calcium channel complex;GO:0005891 voltage-gated calcium channel complex;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0006816 calcium ion transport;GO:0086091 regulation of heart rate by cardiac conduction;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q01668-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02641-1", "uniprot_id": "CACB1_HUMAN", "mass": 65714.0, "length": 598, "protein_name": "Voltage-dependent L-type calcium channel subunit beta-1", "gene_name": "CACNB1", "organism": "Human", "refseq_name": "voltage-dependent L-type calcium channel subunit beta-1 isoform 1", "refseq_ac": "NP_000714", "gene_names_uniprotkb": "CACNB1; CACNLB1", "gene_names_refseq": "CAB1; CACNB1; CACNLB1; CCHLB1", "protein_names_uniprotkb": "Voltage-dependent L-type calcium channel subunit beta-1; CAB1; Calcium channel voltage-dependent subunit beta 1", "protein_names_refseq": "calcium channel voltage-dependent subunit beta 1; calcium channel, L type, beta 1 polypeptide; calcium channel, voltage-dependent, beta 1 subunit; dihydropyridine-sensitive L-type, calcium channel beta-1 subunit; voltage-dependent L-type calcium channel subunit beta-1 isoform 1; voltage-dependent L-type calcium channel subunit beta-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:782); (R-HSA-112308); (R-HSA-419037); (R-HSA-5576892); (R-HSA-5576893); (R-HSA-9856532)", "pathway_count": 6, "publication_count": 53, "publication_id_list": "10624822;10646604;11290418;12765789;1309651;1309946;1385409;14500339;15000524;15304325;15615847;16267048;16406008;16959974;17081983;17483156;18059411;18093912;18184654;19406745;21127204;21566136;21817159;22054663;22514276;23479567;23695678;23804213;24591645;25966690;26154972;27797339;2809592;28228285;29212769;29485866;31844290;31848261;32161166;32387766;32938616;33912179;34087483;34171305;35580925;7916667;8107964;8262246;8395940;8825650;8905728;9038151;9398268", "class_list": "", "function": "Data show that mutant variant V156A results in instability of protein subdomains of beta1a subunit leading to a phenotype of Ca(2+) dysregulation that partly resembles that of other malignant hypertension-linked mutations of DHPR alpha1S subunit., [RefSeq, PubMed]; Regulatory subunit of L-type calcium channels (PubMed:1309651, PubMed:15615847, PubMed:8107964). Regulates the activity of L-type calcium channels that contain CACNA1A as pore-forming subunit (By similarity). Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit and increases the presence of the channel complex at the cell membrane (PubMed:15615847). Required for functional expression L-type calcium channels that contain CACNA1D as pore-forming subunit (PubMed:1309651). Regulates the activity of L-type calcium channels that contain CACNA1B as pore-forming subunit (PubMed:8107964)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "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": "A8K114;O15331;Q02639;Q02640;Q8N3X9;Q9C085;Q9UD79", "ec_number_list": "", "go_molecular_function": "GO:0005246 calcium channel regulator activity;GO:0005245 voltage-gated calcium channel activity;GO:0008331 high voltage-gated calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0030315 T-tubule;GO:0005891 voltage-gated calcium channel complex", "go_biological_process": "GO:0045933 positive regulation of muscle contraction;GO:1904646 cellular response to amyloid-beta;GO:0006816 calcium ion transport;GO:0007268 chemical synaptic transmission;GO:1902514 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q02641-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q0VF96-1", "uniprot_id": "CGNL1_HUMAN", "mass": 149079.0, "length": 1302, "protein_name": "Cingulin-like protein 1", "gene_name": "CGNL1", "organism": "Human", "refseq_name": "cingulin-like protein 1", "refseq_ac": "NP_001239264", "gene_names_uniprotkb": "CGNL1; JACOP; KIAA1749", "gene_names_refseq": "CGNL1; JACOP; PCING", "protein_names_uniprotkb": "Cingulin-like protein 1; Junction-associated coiled-coil protein; Paracingulin", "protein_names_refseq": "cingulin-like protein 1; junction-associated coiled-coil protein; paracingulin", "tax_id": 9606, "disease": "aromatase excess syndrome (Disease Ontology:DOID:0090122)", "pathway": " (hsa:84952)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "12736278;15292197;18653465;19664995;20166139;21406692;21454477;22891260;24275569;26992070;27862975;29016873;29557506;29786170;30379171;30429286;31154438;31217245;31844290;31848261;32157095;32488085;32938616;32983136;33592498;33981976;34087483;35051231;35251023;35580925;36215666;37074911", "class_list": "", "function": "Demonstrate in a postnatal retinal vascular development model in mice that Cgnl1 function is crucial for sustaining neovascular growth and stability, [RefSeq, PubMed]; May be involved in anchoring the apical junctional complex, especially tight junctions, to actin-based cytoskeletons., [UniProtKB, PubMed]; Paracingulin regulates the activity of Rac1 and RhoA GTPases by recruiting Tiam1 and GEF-H1 to epithelial junctions, [RefSeq, PubMed]; This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; This paper studied the mouse JACOP protein and found that the JACOP protein has structural and functional similarities to cingulin., [RefSeq, PubMed]; ZO-1 and PLEKHA7 are paracingulin-interacting proteins that are involved in its recruitment to epithelial tight and adherens junctions, respectively, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q05BZ4;Q52LR0;Q695C7;Q7Z2L3;Q96JV2;Q96MN6;Q9C0B4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005923 bicellular tight junction;GO:0030054 cell junction;GO:0032991 protein-containing complex;GO:0016459 myosin complex", "go_biological_process": "GO:0150105 protein localization to cell-cell junction;GO:0007015 actin filament organization;GO:0051058 negative regulation of small GTPase mediated signal transduction;GO:0051497 negative regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q0VF96-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13166-1", "uniprot_id": "CATR1_HUMAN", "mass": 9224.0, "length": 79, "protein_name": "CATR tumorigenic conversion 1 protein", "gene_name": "CATR1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CATR1", "gene_names_refseq": "", "protein_names_uniprotkb": "CATR tumorigenic conversion 1 protein; CATR1.3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "24715725;7604004", "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": "Q13166-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13634-1", "uniprot_id": "CAD18_HUMAN", "mass": 88073.0, "length": 790, "protein_name": "Cadherin-18", "gene_name": "CDH18", "organism": "Human", "refseq_name": "cadherin-18 isoform 2 precursor", "refseq_ac": "NP_001161139", "gene_names_uniprotkb": "CDH18; CDH14", "gene_names_refseq": "CDH18", "protein_names_uniprotkb": "Cadherin-18; Cadherin-14", "protein_names_refseq": "cadherin 18, type 2; cadherin-18 isoform 2 precursor; ey-cadherin", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:1016); (R-HSA-418990)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;10225955;11237011;12050160;16467305;17967169;19354288;24714562;25372031;27726376;29789718;30078018;31848261;34087483;37025097;37813809;7806582;9030594;9219219;9845526", "class_list": "", "function": "A duodenal mucosa transcriptome study identified reduced expression of a novel gene CDH18 in celiac disease., [RefSeq, PubMed]; A role for PDLIM7 and CDH18, regulating MDM2 protein in CDK4/6 inhibitor-treated cells., [RefSeq, PubMed]; CDH18 overexpression significantly inhibited the invasion and migration ability but not proliferation ability in glioma cell lines., [RefSeq, PubMed]; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types., [UniProtKB]; Effect of COP1 in Promoting the Tumorigenesis of Gastric Cancer by Down-Regulation of CDH18 via PI3K/AKT Signal Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K0I2;B4DHG6;Q8N5Z2", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016342 catenin complex", "go_biological_process": "GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0034332 adherens junction organization", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q13634-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15878-1", "uniprot_id": "CAC1E_HUMAN", "mass": 261731.0, "length": 2313, "protein_name": "Voltage-dependent R-type calcium channel subunit alpha-1E", "gene_name": "CACNA1E", "organism": "Human", "refseq_name": "voltage-dependent R-type calcium channel subunit alpha-1E isoform 3", "refseq_ac": "NP_000712", "gene_names_uniprotkb": "CACNA1E; CACH6; CACNL1A6", "gene_names_refseq": "BII; CACH6; CACNA1E; CACNL1A6; Cav2.3; DEE69; EIEE69; gm139", "protein_names_uniprotkb": "Voltage-dependent R-type calcium channel subunit alpha-1E; BII; Brain calcium channel II; Calcium channel, L type, alpha-1 polypeptide, isoform 6; Voltage-gated calcium channel subunit alpha Cav2.3", "protein_names_refseq": "brain calcium channel II; calcium channel, L type, alpha-1 polypeptide; calcium channel, R type, alpha-1 polypeptide; voltage-dependent R-type calcium channel subunit alpha-1E isoform 3; voltage-dependent R-type calcium channel subunit alpha-1E; voltage-dependent calcium channel alpha 1E subunit; voltage-gated calcium channel alpha subunit Cav2.3", "tax_id": 9606, "disease": "hereditary ataxia (Disease Ontology:DOID:0050951); familial hemiplegic migraine 1 (Disease Ontology:DOID:0111181); developmental and epileptic encephalopathy 69 (Disease Ontology:DOID:0112205); epilepsy (Disease Ontology:DOID:1826); migraine (Disease Ontology:DOID:6364)", "pathway": " (hsa:777); (R-HSA-112308); (R-HSA-422356)", "pathway_count": 3, "publication_count": 119, "publication_id_list": "10.1101/2023.09.13.557529;10194514;10206966;10342826;10424882;10526167;10773014;10866047;10868950;11078440;11078469;11237011;11264248;11577798;11716850;11780755;11815450;11815460;11815462;11815463;11873862;12196472;12403834;12475777;12684222;12764427;12887316;1309948;13459201;14514350;15000528;15258581;15305887;15504896;15572341;15585596;15678092;16332676;16443778;16513675;16556766;16714477;16868246;17021801;17259518;17380317;17660294;17900700;17919183;18162464;18346985;18400181;18596924;19587354;20086079;23481700;23992284;24714562;25418920;25505266;26375851;26517901;26728094;27920218;28063628;28228285;28514659;28832583;29108130;29242379;29508533;29557506;29632046;29769354;29786170;30315122;30343943;31067468;31217245;31844290;32350084;32357974;32387766;32502341;33717175;33912179;34561969;34702355;34837834;34932366;35026540;35051231;3517644;35580925;36010968;38081835;38253038;38780451;3923453;6019353;6424440;6435940;7536609;7589840;7593639;7641683;7929812;8027028;8071363;8457197;8675920;8825650;8987985;8997178;9350615;9726229;9739505;9751501;9914469", "class_list": "", "function": "De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Publication Status: Online-Only, [RefSeq, PubMed]; Direct inhibition of CaV2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction., [RefSeq, PubMed]; Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations and clinical significance of calcium voltage-gated channel subunit alpha 1E (CACNA1E) in non-small cell lung cancer. Erratum:[Cell Calcium. 2024 May;119:102866. doi: 10.1016/j.ceca.2024.102866. PMID: 38428281], [RefSeq, PubMed]; Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?, [RefSeq, PubMed]; Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]., [RefSeq]; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing., [UniProtKB, PubMed, PubMed]; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents., [UniProtKB, UniProtKB, UniProtKB]; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells. They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 140, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B1AM12;B1AM13;B1AM14;Q14580;Q14581", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005245 voltage-gated calcium channel activity;GO:0008331 high voltage-gated calcium channel activity;GO:0022843 voltage-gated monoatomic cation channel activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0045202 synapse;GO:0005891 voltage-gated calcium channel complex;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0098703 calcium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q15878-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2KHT3-1", "uniprot_id": "CL16A_HUMAN", "mass": 117715.0, "length": 1053, "protein_name": "Protein CLEC16A", "gene_name": "CLEC16A", "organism": "Human", "refseq_name": "protein CLEC16A isoform 2", "refseq_ac": "NP_001230332", "gene_names_uniprotkb": "CLEC16A; KIAA0350", "gene_names_refseq": "CLEC16A; Gop-1; KIAA0350", "protein_names_uniprotkb": "Protein CLEC16A; C-type lectin domain family 16 member A", "protein_names_refseq": "C-type lectin domain family 16 member A; protein CLEC16A isoform 2; protein CLEC16A", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); Addison's disease (Disease Ontology:DOID:13774); multiple sclerosis (Disease Ontology:DOID:2377); rheumatoid arthritis (Disease Ontology:DOID:7148); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:23274)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "11237011;17632545;18593762;23301498;24949970;25418920;25505266;25576301;25645385;25802875;25892735;26992070;27920218;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29557506;29632711;29769354;30315122;30410026;30524438;30620550;31844290;32157095;32350084;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33537174;33691108;33912179;33936100;33968037;34171305;34185709;34357683;34509645;34561969;34643957;34932366;35051231;35251023;35580925;35604110;36010968;36241641;36538041;36622793;37175930;37938771;39894887", "class_list": "", "function": "An intrinsically disordered protein region encoded by the human disease gene CLEC16A regulates mitophagy., [RefSeq, PubMed]; CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment., [RefSeq, PubMed]; CLEC16A-An Emerging Master Regulator of Autoimmunity and Neurodegeneration. Review article Publication Status: Online-Only, [RefSeq, PubMed]; CTLA4, SH2B3, and CLEC16A diversely affect the progression of early islet autoimmunity in relatives of Type 1 diabetes patients., [RefSeq, PubMed]; Exploring the role of the multiple sclerosis susceptibility gene CLEC16A in T cells., [RefSeq, PubMed]; Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteasomal degradation, RNF41/NRDP1 which regulates proteasomal degradation of PRKN. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health., [UniProtKB, PubMed]; Results indicate that KIAA0350 might be involved in the pathogenesis of type 1 diabetes and demonstrate the utility of the genome-wide association approach in the identification of previously unsuspected genetic determinants of complex traits GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; Two alleles at 16p13 are independently associated with the risk of Addison's disease in the Norwegian population, suggesting this chromosomal region to harbor common autoimmunity gene(s), CLEC16A and CIITA being possible independent candidates. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O15058;Q6ZTB2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0010008 endosome membrane;GO:0031982 vesicle", "go_biological_process": "GO:0007034 vacuolar transport;GO:1901097 negative regulation of autophagosome maturation;GO:1904263 positive regulation of TORC1 signaling;GO:0016197 endosomal transport;GO:0009267 cellular response to starvation", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q2KHT3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5QGZ9-2", "uniprot_id": "CL12A_HUMAN", "mass": 30762.0, "length": 265, "protein_name": "C-type lectin domain family 12 member A", "gene_name": "CLEC12A", "organism": "Human", "refseq_name": "C-type lectin domain family 12 member A isoform 3", "refseq_ac": "NP_001193939", "gene_names_uniprotkb": "CLEC12A; CLL1; DCAL2; KLRL1; MICL", "gene_names_refseq": "CD371; CLEC12A; CLL-1; CLL1; DCAL-2; MICL; hKLRL1", "protein_names_uniprotkb": "C-type lectin domain family 12 member A; C-type lectin-like molecule 1; CLL-1; DCAL-2; Dendritic cell-associated lectin 2; Killer cell C-type lectin-like receptor L1; MICL; Myeloid inhibitory C-type lectin-like receptor; hKLRL1", "protein_names_refseq": "C-type lectin domain family 12 member A isoform 3; C-type lectin protein CLL-1; C-type lectin-like molecule-1; dendritic cell-associated lectin 2; killer cell C-type lectin-like receptor L1; myeloid inhibitory C-type lectin-like receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:160364); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "14739280;15238421;15548716;16239426;16335952;16838277;23650620;30315122;31269448;31291378;32350084;32983136;33043033;33392160;34234773;35251023;35580925;36284347;36542980;36928077;37102643;38367667;38386511;39143217;8692836", "class_list": "glycogene", "function": "Behcet syndrome: The disturbed balance between anti- (CLEC12A, CLC) and proinflammatory (IFI27) gene expressions., [RefSeq, PubMed]; Crystal structure of the complex of CLEC12A and an antibody that interferes with binding of diverse ligands., [RefSeq, PubMed]; Human MICL may be involved in the control of myeloid cell activation during inflammation, [RefSeq, PubMed]; Identification of two early blood biomarkers ACHE and CLEC12A for improved risk stratification of critically ill COVID-19 patients. Publication Status: Online-Only, [RefSeq, PubMed]; MICL is a negative regulator of granulocyte and monocyte function, [RefSeq, PubMed]; Mechanistic insights into the C-type lectin receptor CLEC12A-mediated immune recognition of monosodium urate crystal., [RefSeq, PubMed]; Myeloid inhibitory C-type lectin receptor that acts as a negative regulator of myeloid cell activation (PubMed:14739280, PubMed:15238421, PubMed:16239426, PubMed:34234773, PubMed:38367667, PubMed:38386511, PubMed:39143217). Myeloid cell inhibition is required to limit proinflammatory pathways and protect against excessive inflammation (By similarity). Specifically recognizes and binds various structures, such as neutrophil extracellular traps (NETs) or monosodium urate crystals (PubMed:38367667, PubMed:38386511, PubMed:39143217). Also acts as a pattern-recognition receptor for pathogen-associated molecules, such as plasmodium hemozoin or mycobacterial micolic acid (PubMed:31269448, PubMed:36542980). Ligand-binding induces phosphorylation of its ITIM motif, followed by recruitment of tyrosine-protein phosphatases PTPN6 and PTPN11, which counteract tyrosine-protein kinase SYK, thereby preventing myeloid cell activation (PubMed:14739280, PubMed:16239426, PubMed:34234773). Acts as a pattern-recognition receptor for NETs in neutrophils: specifically recognizes DNA in NETs, leading to inhibit neutrophil activation and limit further NET formation (PubMed:39143217). This regulation is essential for controlling key neutrophil responses and limit NET-mediated inflammatory conditions (By similarity). Also recognizes dead cells by acting as a receptor for monosodium urate crystals, leading to down-regulate neutrophil activation (PubMed:38367667, PubMed:38386511). Binding to monosodium urate crystals also promotes the type I interferon response (By similarity). Acts as an inhibitor of natural killer (NK) cell cytotoxicity (PubMed:15238421). Also acts as an inhibitor of dendritic cell maturation in an IL10-dependent manner (PubMed:16239426)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Recognition and control of neutrophil extracellular trap formation by MICL., [RefSeq, PubMed]; The molecular cloning, tissue distribution, and functional characterization of a novel NK cell receptor, KLRL1, from human and mouse dendritic cells [KLRL1], [RefSeq, PubMed]; This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 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": 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": 4, "reported_glycation": 0, "reported_snv": 366, "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": "B2RA16;Q6P4H1;Q6RH77;Q6RH78;Q8TDQ6", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:0038187 pattern recognition receptor activity;GO:0030545 signaling receptor regulator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0050728 negative regulation of inflammatory response;GO:0050777 negative regulation of immune response;GO:0032481 positive regulation of type I interferon production;GO:1902564 negative regulation of neutrophil activation", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q5QGZ9-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5R3K3-1", "uniprot_id": "CAHM6_HUMAN", "mass": 34458.0, "length": 315, "protein_name": "Calcium homeostasis modulator protein 6", "gene_name": "CALHM6", "organism": "Human", "refseq_name": "calcium homeostasis modulator protein 6 isoform 1", "refseq_ac": "NP_001010919", "gene_names_uniprotkb": "CALHM6; C6orf187; FAM26F", "gene_names_refseq": "C6orf187; CALHM6; FAM26F; INAM; dJ93H18.5", "protein_names_uniprotkb": "Calcium homeostasis modulator protein 6; Protein FAM26F", "protein_names_refseq": "IFN regulatory factor 3-dependent NK-activating molecule; calcium homeostasis modulator protein 6 isoform 1; calcium homeostasis modulator protein 6; family with sequence similarity 26 member F; protein FAM26F", "tax_id": 9606, "disease": "", "pathway": " (hsa:441168)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;25082827;25892735;26992070;27600516;27645024;27784631;28467828;28904123;29242379;29557506;29769354;29786170;31154438;31263063;31848261;32157095;32350084;32374262;32938616;32983136;33639860;33968037;35051231;35251023;35580925;36284347", "class_list": "", "function": "CALHM6 is implicated in regulating the immune response to infection and may have a role in typical triggering of Steroid-Sensitive Nephrotic Syndrome (SSNS) onset by infections, [RefSeq, PubMed]; Effect of oxidative stress and calcium deregulation on FAM26F (CALHM6) expression during hepatitis B virus infection. Publication Status: Online-Only, [RefSeq, PubMed]; FAM26F is a conserved, signal peptide deprived transmembrane protein that is secreted through non-classical pathway.FAM26F has an immunoglobulin-like fold which emphasizes its role in immune responses., [RefSeq, PubMed]; FAM26F: An Enigmatic Protein Having a Complex Role in the Immune System. Review article, [RefSeq, PubMed]; FAM26Fwas found to be consistently and significantly overexpressed in ulcerative colitis patients., [RefSeq, PubMed]; Pore-forming subunit of an ATP-permeable channel (By similarity). In response to pathogen-derived and proinflammatory stimuli, relocates from intracellular compartments to NK-dendritic cell and NK-macrophage immune synapses where it mediates ATP efflux and NK cell activation involved in antimicrobial and antitumor responses (By similarity). May assemble to form gap junction channel-like structures with gating and ion conductance likely regulated by membrane lipids and voltage rather than by extracellular calcium levels (PubMed:32374262)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B9EJB0;Q5R3K4", "ec_number_list": "", "go_molecular_function": "GO:0005261 monoatomic cation channel activity;GO:0022832 voltage-gated channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0001772 immunological synapse;GO:0016020 membrane", "go_biological_process": "GO:1904669 ATP export;GO:0002727 regulation of natural killer cell cytokine production;GO:0034220 monoatomic ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q5R3K3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SVJ3-1", "uniprot_id": "SMIP3_HUMAN", "mass": 17617.0, "length": 147, "protein_name": "Protein SPMIP3", "gene_name": "SPMIP3", "organism": "Human", "refseq_name": "protein SPMIP3 isoform 1", "refseq_ac": "NP_001012988", "gene_names_uniprotkb": "SPMIP3; C1orf100", "gene_names_refseq": "C1orf100; SPMIP3", "protein_names_uniprotkb": "Protein SPMIP3; Sperm-associated microtubule inner protein 3", "protein_names_refseq": "protein SPMIP3 isoform 1; protein SPMIP3; sperm associated microtubule inner protein 3; uncharacterized protein C1orf100", "tax_id": 9606, "disease": "", "pathway": " (hsa:200159)", "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": 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": "Q5SVJ4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5SVJ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T440-1", "uniprot_id": "CAF17_HUMAN", "mass": 38155.0, "length": 356, "protein_name": "Iron-sulfur cluster assembly factor IBA57, mitochondrial", "gene_name": "IBA57", "organism": "Human", "refseq_name": "iron-sulfur cluster assembly factor IBA57, mitochondrial isoform 1 precursor", "refseq_ac": "NP_001010867", "gene_names_uniprotkb": "IBA57; C1orf69", "gene_names_refseq": "C1orf69; IBA57; MMDS3; SPG74", "protein_names_uniprotkb": "Iron-sulfur cluster assembly factor IBA57, mitochondrial; Iron-sulfur cluster assembly factor homolog", "protein_names_refseq": "IBA57 homolog, iron-sulfur cluster assembly; IBA57, iron-sulfur cluster assembly homolog; iron-sulfur cluster assembly factor IBA57, mitochondrial isoform 1 precursor; iron-sulfur cluster assembly factor IBA57, mitochondrial; iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa; putative transferase C1orf69, mitochondrial; putative transferase CAF17, mitochondrial", "tax_id": 9606, "disease": "multiple mitochondrial dysfunctions syndrome 3 (Disease Ontology:DOID:0080135); hereditary spastic paraplegia 74 (Disease Ontology:DOID:0110819)", "pathway": " (hsa:200205)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "19656490;20877624;22323289;23462291;25609768;26992070;28218747;28228285;29437277;30269484;30315122;30410026;30950402;31831856;32157095;32357974;32387766;32938616;34229054;34357683;35051231;35132862;35580925;39408793;40307207", "class_list": "", "function": "Defects in the Maturation of Mitochondrial Iron-Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57. Publication Status: Online-Only, [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]; Involved in the maturation of mitochondrial 2Fe-2S proteins in the late stage of the iron-sulfur cluster assembly pathway., [UniProtKB, PubMed]; Mitochondrial protein involved in the maturation of mitochondrial [4Fe-4S]-proteins in the late stage of the iron-sulfur cluster assembly pathway (PubMed:22323289, PubMed:23462291). Operates in cooperation with ISCA2 in the maturation of [4Fe-4S] proteins (PubMed:30269484)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Required for functional heme biosynthesis in erythroid cells., [RefSeq, PubMed]; Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0051604 protein maturation;GO:0006783 heme biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q5T440-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T742-1", "uniprot_id": "ZFAS1_HUMAN", "mass": 14441.0, "length": 122, "protein_name": "Uncharacterized protein ZNF22-AS1", "gene_name": "ZNF22-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF22-AS1; C10orf25", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein ZNF22-AS1; ZNF22 antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 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": 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": "A1L424;Q96NM5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5T742-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T7R7-1", "uniprot_id": "CA185_HUMAN", "mass": 22411.0, "length": 199, "protein_name": "Uncharacterized protein C1orf185", "gene_name": "C1orf185", "organism": "Human", "refseq_name": "uncharacterized protein C1orf185 isoform 1", "refseq_ac": "NP_001129980", "gene_names_uniprotkb": "C1orf185", "gene_names_refseq": "C1orf185", "protein_names_uniprotkb": "Uncharacterized protein C1orf185", "protein_names_refseq": "uncharacterized protein C1orf185 isoform 1; uncharacterized protein C1orf185", "tax_id": 9606, "disease": "", "pathway": " (hsa:284546)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29393594;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": "A6NHS3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5T7R7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWF1-1", "uniprot_id": "CA054_HUMAN", "mass": 14923.0, "length": 131, "protein_name": "Uncharacterized protein C1orf54", "gene_name": "C1orf54", "organism": "Human", "refseq_name": "uncharacterized protein C1orf54 isoform b precursor", "refseq_ac": "NP_001287969", "gene_names_uniprotkb": "C1orf54", "gene_names_refseq": "C1orf54", "protein_names_uniprotkb": "Uncharacterized protein C1orf54", "protein_names_refseq": "uncharacterized protein C1orf54 isoform b precursor; uncharacterized protein C1orf54", "tax_id": 9606, "disease": "", "pathway": " (hsa:79630)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1038/emboj.2013.79;11237011;23584533;24715725;25418920;25892735;28904123;29769354;30459171;31844290;31848261;32157095;32265295;35051231;35580925;37938771", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q9H5P3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0043491 phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8WWF1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N1D5-1", "uniprot_id": "CF107_HUMAN", "mass": 23033.0, "length": 194, "protein_name": "Cilia- and flagella-associated protein 107", "gene_name": "CFAP107", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 107 isoform 1", "refseq_ac": "NP_689503", "gene_names_uniprotkb": "CFAP107; C1orf158", "gene_names_refseq": "C1orf158; CFAP107", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 107", "protein_names_refseq": "cilia- and flagella-associated protein 107 isoform 1; protein CFAP107; uncharacterized protein C1orf158", "tax_id": 9606, "disease": "", "pathway": " (hsa:93190)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;36191189;38538594;39894887", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, 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": 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": "Q5VUY4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath;GO:0005930 axoneme", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N1D5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VVS0-1", "uniprot_id": "CA140_HUMAN", "mass": 13926.0, "length": 124, "protein_name": "Putative uncharacterized protein C1orf140", "gene_name": "C1orf140", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "C1orf140", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein C1orf140", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "28411811", "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": "Q6ZR57", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5VVS0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PL45-1", "uniprot_id": "BRID5_HUMAN", "mass": 28486.0, "length": 260, "protein_name": "BRICHOS domain-containing protein 5", "gene_name": "BRICD5", "organism": "Human", "refseq_name": "BRICHOS domain-containing protein 5", "refseq_ac": "NP_872369", "gene_names_uniprotkb": "BRICD5; C16orf79", "gene_names_refseq": "BRICD5; C16orf79", "protein_names_uniprotkb": "BRICHOS domain-containing protein 5", "protein_names_refseq": "BRICHOS domain-containing protein 5; BRICHOS domain-containing protein C16orf79", "tax_id": 9606, "disease": "", "pathway": " (hsa:283870)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;29557506;34561969;35051231", "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": 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": "C9J7K2;Q8IXU9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane", "go_biological_process": "GO:0042127 regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6PL45-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZS10-1", "uniprot_id": "CL17A_HUMAN", "mass": 42935.0, "length": 378, "protein_name": "C-type lectin domain family 17, member A", "gene_name": "CLEC17A", "organism": "Human", "refseq_name": "C-type lectin domain family 17, member A isoform 1", "refseq_ac": "NP_001191047", "gene_names_uniprotkb": "CLEC17A", "gene_names_refseq": "CLEC17A", "protein_names_uniprotkb": "C-type lectin domain family 17, member A; Prolectin", "protein_names_refseq": "C-type lectin domain family 17 member A; C-type lectin domain family 17, member A isoform 1; prolectin", "tax_id": 9606, "disease": "", "pathway": " (hsa:388512)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;14702039;15057824;15489334;19419970;23453885;23481700;24190977;24714562;24715725;25418920;25502872;26908442;27846572;27920218;28218747;28228285;28467828;28832583;28855257;28904123;29242379;29314611;29317506;29557506;29632711;30192525;30315122;30410026;30573663;31217245;31844290;32296183;32350084;32357974;33091337;33141586;33691108;33912179;33936100;34357683;35154160;36581221", "class_list": "glycogene", "function": "Cell surface receptor which may be involved in carbohydrate-mediated communication between cells in the germinal center. Binds glycans with terminal alpha-linked mannose or fucose residues., [UniProtKB, PubMed]; High CLEC17A expression is associated with breast cancer., [RefSeq, PubMed]; This novel receptor has the potential to function in carbohydrate-mediated communication between cells in the germinal center, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 440, "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": "A8MX68;B2RTX0;B7ZMM4", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0005537 D-mannose binding;GO:0042806 fucose binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0009986 cell surface;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q6ZS10-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZU45-1", "uniprot_id": "CL20A_HUMAN", "mass": 44255.0, "length": 400, "protein_name": "Putative C-type lectin domain family 20 member A", "gene_name": "CLEC20A", "organism": "Human", "refseq_name": "putative C-type lectin domain family 20 member A precursor", "refseq_ac": "NP_001382260", "gene_names_uniprotkb": "CLEC20A", "gene_names_refseq": "CLEC20A; LINC00083; NCRNA00083", "protein_names_uniprotkb": "Putative C-type lectin domain family 20 member A", "protein_names_refseq": "C-type lectin domain family 20 member A; long intergenic non-protein coding RNA 83; putative C-type lectin domain family 20 member A precursor; putative C-type lectin domain family 20 member A", "tax_id": 9606, "disease": "", "pathway": " (hsa:400797)", "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": "A0A1B0GWE9", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZU45-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7LBR1-1", "uniprot_id": "CHM1B_HUMAN", "mass": 22109.0, "length": 199, "protein_name": "Charged multivesicular body protein 1b", "gene_name": "CHMP1B", "organism": "Human", "refseq_name": "charged multivesicular body protein 1b", "refseq_ac": "NP_065145", "gene_names_uniprotkb": "CHMP1B; C18orf2", "gene_names_refseq": "C10orf2; C18-ORF2; C18orf2; CHMP1.5; CHMP1B; Vps46-2; Vps46B; hVps46-2", "protein_names_uniprotkb": "Charged multivesicular body protein 1b; CHMP1.5; CHMP1b; Chromatin-modifying protein 1b; Vacuolar protein sorting-associated protein 46-2; Vps46-2; hVps46-2", "protein_names_refseq": "VPS46 homolog B; charged multivesicular body protein 1b; chromatin modifying protein 1B; chromatin-modifying protein 1b; vacuolar protein sorting 46-2; vacuolar protein sorting-associated protein 46-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57132)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11474171;11559747;14505570;14519844;15537668;16174732;16730941;17928862;18385515;18997780;19129479;19129480;20112406;21543490;25502872;25576301;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30429286;30833945;31154438;31844290;32157095;32161166;32265295;32350084;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33968037;33981976;34087483;34171305;34509645;35318648;35561310;35580925;35858336;36215666;36284347", "class_list": "", "function": "CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]., [RefSeq]; Friction-driven membrane scission by the human ESCRT-III proteins CHMP1B and IST1., [RefSeq, PubMed]; Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B and SPAST to the midbody of dividing cells. Involved in HIV-1 p6- and p9-dependent virus release., [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": 9, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96E89;Q9HD41", "ec_number_list": "", "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0090541 MIT domain binding", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0000421 autophagosome membrane;GO:0005643 nuclear pore;GO:0005829 cytosol", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0010824 regulation of centrosome duplication;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q7LBR1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7RTN6-1", "uniprot_id": "STRAA_HUMAN", "mass": 48369.0, "length": 431, "protein_name": "STE20-related kinase adapter protein alpha", "gene_name": "STRADA", "organism": "Human", "refseq_name": "STE20-related kinase adapter protein alpha isoform 2", "refseq_ac": "NP_001003786", "gene_names_uniprotkb": "STRADA; LYK5; STRAD", "gene_names_refseq": "LYK5; NY-BR-96; PMSE; STLK5; STRAD alpha; STRADA; STRAD; Stlk", "protein_names_uniprotkb": "STE20-related kinase adapter protein alpha; STE20-related adapter protein; STRAD alpha; Serologically defined breast cancer antigen NY-BR-96", "protein_names_refseq": "STE20-like pseudokinase; STE20-related kinase adapter protein alpha isoform 2; STE20-related kinase adapter protein alpha; STE20-related kinase adaptor alpha; protein kinase LYK5; serologically defined breast cancer antigen NY-BR-96", "tax_id": 9606, "disease": "polyhydramnios, megalencephaly, and symptomatic epilepsy (Disease Ontology:DOID:0070511); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:92335); (R-HSA-380972)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;11018120;11237011;12747765;12805220;14511394;14517248;14614828;14730349;14985505;15579580;16943194;17344846;17522105;18439900;19892943;23186163;23481700;24029068;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26811146;27600516;27869121;27893789;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30379171;31154438;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33440120;33691108;33717175;33912179;33968037;34171305;34509645;34561969;35051231;36010968;36241641;36284347;39894887;8549768;8779952", "class_list": "", "function": "Identification and characterization of an LKB1-specific adaptor protein and substrate, STRAD. Results imply that STRAD plays a key role in regulating the tumor suppressor activities of LKB1., [RefSeq, PubMed]; Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation., [UniProtKB, PubMed, PubMed, PubMed, 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 contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a 'pseudokinase'. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]., [RefSeq]; Type II Binders Targeting the ''GLR-Out'' Conformation of the Pseudokinase STRADalpha., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 7, "reported_glycation": 0, "reported_snv": 16, "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": "B4DDE3;B4DW17;J3KTC9;Q5JPI2;Q7Z4K9;Q8NC31;Q8NCF1;Q9H272", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0030295 protein kinase activator activity;GO:0019900 kinase binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:1902554 serine/threonine protein kinase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0032147 activation of protein kinase activity;GO:0006611 protein export from nucleus;GO:0070314 G1 to G0 transition", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q7RTN6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86XJ0-1", "uniprot_id": "CAHM3_HUMAN", "mass": 38496.0, "length": 344, "protein_name": "Calcium homeostasis modulator protein 3", "gene_name": "CALHM3", "organism": "Human", "refseq_name": "calcium homeostasis modulator protein 3", "refseq_ac": "NP_001123214", "gene_names_uniprotkb": "CALHM3; FAM26A", "gene_names_refseq": "CALHM3; FAM26A; bA225H22.7", "protein_names_uniprotkb": "Calcium homeostasis modulator protein 3; Protein A", "protein_names_refseq": "calcium homeostasis modulator protein 3; family with sequence similarity 26, member A; protein A", "tax_id": 9606, "disease": "", "pathway": " (hsa:119395); (R-HSA-9717207); (R-HSA-9730628)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "10761935;11917125;12015988;1325650;14634208;15353592;15385606;15738140;16385451;17167479;17506496;18585350;19104071;19696921;19997627;20022913;20033988;20164573;21422378;21795555;23632330;24157691;24214976;24360415;24633359;25853419;26377607;28256214;29466837;29659026;29744740;30013099;30563861;32938616;35051231;7720699;8288584;9065781", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pore-forming subunit of gustatory voltage-gated ion channels required for sensory perception of sweet, bitter and umami tastes. With CALHM1 forms a fast-activating voltage-gated ATP-release channel in type II taste bud cells, ATP acting as a neurotransmitter to activate afferent neural gustatory pathways. Acts both as a voltage-gated and calcium-activated ion channel: mediates neuronal excitability in response to membrane depolarization and low extracellular Ca(2+) concentration. Has poor ion selectivity and forms a wide pore (around 14 Angstroms) that mediates permeation of small ions including Ca(2+), Na(+), K(+) and Cl(-), as well as larger ions such as ATP(4-)., [UniProtKB, UniProtKB]; This study failed to show an association between theeight SNPs of the CALHM3 genes and alzheimer disease. GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5W090;Q8IXR2", "ec_number_list": "1.8.-.-;1.8.5.1;1.11.1.-;5.6.1.6;2.7.11.1", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005244 voltage-gated monoatomic ion channel activity;GO:0005261 monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0051291 protein heterooligomerization;GO:0050909 sensory perception of taste;GO:0015867 ATP transport;GO:1904669 ATP export", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q86XJ0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IUN9-1", "uniprot_id": "CLC10_HUMAN", "mass": 35446.0, "length": 316, "protein_name": "C-type lectin domain family 10 member A", "gene_name": "CLEC10A", "organism": "Human", "refseq_name": "C-type lectin domain family 10 member A isoform 2", "refseq_ac": "NP_006335", "gene_names_uniprotkb": "CLEC10A; CLECSF13; CLECSF14; HML", "gene_names_refseq": "CD301; CLEC10A; CLECSF13; CLECSF14; DC-ASGPR; HML2; HML; MGL", "protein_names_uniprotkb": "C-type lectin domain family 10 member A; C-type lectin superfamily member 14; DC-ASGPR; DC-asialoglycoprotein receptor; MGL; Macrophage galactose-type lectin; Macrophage lectin 2", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13 (macrophage-derived); C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived); C-type lectin domain family 10 member A isoform 2; C-type lectin domain family 10 member A; DC-asialoglycoprotein receptor; macrophage galactose-type lectin; macrophage lectin 2 (calcium dependent)", "tax_id": 9606, "disease": "", "pathway": " (hsa:10462); (R-HSA-5621480)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11110698;11237011;11606584;14656219;14702039;15489334;15802303;16998493;17050534;17616966;17804752;18490740;18776906;18818202;19776380;19834553;20237496;21880719;22041900;22213806;22531918;23053572;23507963;23602766;27543614;29557506;29769354;30484775;31154438;31219660;31911241;32157095;32296183;32752259;32915505;32983136;33724805;34105348;35051231;35093731;35580925;36284347;8598452;8972730;9042338", "class_list": "glycogene", "function": "C-type lectin receptor involved in recognition of N-acetylgalactosamine (GalNAc)-terminated glycans by myeloid antigen presenting cells (APCs) (PubMed:15802303, PubMed:16998493, PubMed:17616966, PubMed:22213806, PubMed:33724805, PubMed:8598452). Binds in a Ca(2+)-dependent manner to alpha- and beta-linked GalNAc residues on glycoprotein and glycolipid antigens, including alphaGalNAc- and Galbeta1->3GalNAc-O-Ser/Thr also known as Tn and T antigens, LacdiNAc epitope GalNAcbeta1->4GlcNAc and its derivative GalNAcbeta1->4-(Fucalpha1->3)GlcNAc, O-linked core 5 and 6 glycans, and GM2 and GD2 gangliosides (PubMed:15802303, PubMed:23507963). Acts as a signaling receptor at the interface of APC-T cell interactions. On immature dendritic cells, recognizes Tn antigen-carrying PTPRC/CD45 receptor on effector T cells and downregulates PTRPN/CD45 phosphatase activity with an impact on T cell activation threshold, cytokine production and proliferation. Modulates dendritic cell maturation toward a tolerogenic phenotype leading to generation of regulatory CD4-positive T cell subset with immune suppressive functions (PubMed:15802303, PubMed:16998493, PubMed:22213806). Acts as an endocytic pattern recognition receptor involved in antitumor immunity. During tumorigenesis, recognizes Tn antigens and its sialylated forms Neu5Ac-Tn and Neu5Gc-Tn expressed on tumor cell mucins. On immature dendritic cells, can internalize Tn-terminated immunogens and target them to endolysosomal compartment for MHC class I and II antigen presentation to CD8-positive and CD4-positive T cells, respectively (PubMed:15802303, PubMed:17616966, PubMed:17804752)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; High expression of CLEC10A in head and neck squamous cell carcinoma indicates favorable prognosis and high-level immune infiltration status., [RefSeq, PubMed]; MGL engagement improved DC performance as antigen-presenting cells, promoting the upregulation of maturation markers, a decrease in phagocytosis, an enhancement of motility, and most importantly an increase in antigen-specific CD8(+) T-cell activation., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell surface antigen. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 220, "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": "A8K8J8;Q14538;Q6PIW3", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0005537 D-mannose binding;GO:0042806 fucose binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0009897 external side of plasma membrane;GO:0031901 early endosome membrane;GO:0016020 membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0006955 immune response;GO:0045087 innate immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8IUN9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IXH8-4", "uniprot_id": "CAD26_HUMAN", "mass": 92416.0, "length": 832, "protein_name": "Cadherin-like protein 26", "gene_name": "CDH26", "organism": "Human", "refseq_name": "cadherin-like protein 26 isoform c", "refseq_ac": "NP_001335133", "gene_names_uniprotkb": "CDH26", "gene_names_refseq": "CDH26; VR20", "protein_names_uniprotkb": "Cadherin-like protein 26; Cadherin-like protein VR20", "protein_names_refseq": "cadherin-like 26; cadherin-like protein 26 isoform c; cadherin-like protein 26; cadherin-like protein VR20", "tax_id": 9606, "disease": "", "pathway": " (hsa:60437)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "19824886;28051089;32502341;33161446;36069256", "class_list": "", "function": "Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Ligand for integrins alpha-E/beta-7, ITGAE:ITGAB7, alpha-4/beta-7, ITGA4:ITGAB7 and alpha-4/beta-1, ITGA4:ITGAB1 through which modulates CD4(+) T cells activation (PubMed:28051089)., [UniProtKB, PubMed]; Epithelial cell-adhesion protein cadherin 26 is dysregulated in congenital diaphragmatic hernia and congenital pulmonary airway malformation., [RefSeq, PubMed]; Knockdown of Cadherin 26 Prevents the Inflammatory Responses of Allergic Rhinitis., [RefSeq, PubMed]; Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the cadherin protein family. Cadherins are a family of calcium-dependent adhesion molecules that mediate cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization, migration and differentiation. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This protein is expressed in gastrointestinal epithelial cells and may be upregulated during allergic inflammation. This protein interacts with alpha integrins and may also be involved in leukocyte migration and adhesion. [provided by RefSeq, Jan 2017]., [RefSeq]; This study shows that cadherin 26 is an alpha integrin-binding epithelial receptor regulated during allergic inflammation, [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "A2A2M5;B3KNX3;Q6P5Y6;Q8TCH3;Q9BQN4;Q9NRU1", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding;GO:0045294 alpha-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016342 catenin complex", "go_biological_process": "GO:0035710 CD4-positive, alpha-beta T cell activation;GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8IXH8-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZV2-1", "uniprot_id": "CKLF8_HUMAN", "mass": 19572.0, "length": 173, "protein_name": "CKLF-like MARVEL transmembrane domain-containing protein 8", "gene_name": "CMTM8", "organism": "Human", "refseq_name": "CKLF-like MARVEL transmembrane domain-containing protein 8 isoform 2", "refseq_ac": "NP_001307237", "gene_names_uniprotkb": "CMTM8; CKLFSF8", "gene_names_refseq": "CKLFSF8-V2; CKLFSF8; CMTM8", "protein_names_uniprotkb": "CKLF-like MARVEL transmembrane domain-containing protein 8; Chemokine-like factor superfamily member 8", "protein_names_refseq": "CKLF-like MARVEL transmembrane domain-containing protein 8 isoform 2; CKLF-like MARVEL transmembrane domain-containing protein 8; chemokine-like factor superfamily member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:152189)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12782130;16263120;16806010;17149703;17681841;33395025;33978454;34978519;35254053;35429970", "class_list": "", "function": "Bioinformatics based on CKLF2 cDNA and protein sequences in combination with experimental validation identified CKLFSF1-8 gene clusters, between the SCY and the TM4SF gene families. The 8 family members were cloned and characterized., [RefSeq, PubMed]; Cell proliferation and expression of EGFR of tumor cells can be inhibited by transfection of CKLFSF8., [RefSeq, PubMed]; Downregulated CMTM8 Correlates with Poor Prognosis in Gastric Cancer Patients., [RefSeq, PubMed]; Identification and validation of EMT-immune-related prognostic biomarkers CDKN2A, CMTM8 and ILK in colon cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Influence of CMTM8 polymorphisms on lung cancer susceptibility in the Chinese Han population., [RefSeq, PubMed]; MicroRNA-582-5p promotes triple-negative breast cancer invasion and metastasis by antagonizing CMTM8., [RefSeq, PubMed]; The cloning and sequencing of an alternative splice form of CMTM8, obtained from a human blood cDNA library, that utilizes apoptotic pathways distinct from CMTM8, is reported., [RefSeq, PubMed]; These data implicate CMTM8 as a negative regulator of epidermal growth factor (EGF)-induced signaling., [RefSeq, PubMed]; These results identify CKLFSF8 as a novel regulator of EGF-induced signaling and indicate that the association of EGFR with four transmembrane proteins is critical for EGFR desensitization., [RefSeq, PubMed]; This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor, and plays a role in regulating the migration of tumor cells. The encoded protein is thought to function as a a negative regulator of epidermal growth factor-induced signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A5D6I7;Q8IW01", "ec_number_list": "", "go_molecular_function": "GO:0019911 structural constituent of myelin sheath;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0042552 myelination", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8IZV2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N1N0-1", "uniprot_id": "CLC4F_HUMAN", "mass": 65519.0, "length": 589, "protein_name": "C-type lectin domain family 4 member F", "gene_name": "CLEC4F", "organism": "Human", "refseq_name": "C-type lectin domain family 4 member F isoform 3", "refseq_ac": "NP_001308237", "gene_names_uniprotkb": "CLEC4F; CLECSF13", "gene_names_refseq": "CLEC4F; CLECSF13; KCLR; KCR", "protein_names_uniprotkb": "C-type lectin domain family 4 member F; C-type lectin 13; C-type lectin superfamily member 13", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13; C-type lectin domain family 4 member F isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:165530)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "14702039;15489334;15815621;16713569;1846367;24715725;24927181;29557506;29786170;32983136;34087483;35051231;35580925", "class_list": "glycogene", "function": "Receptor with an affinity for galactose and fucose. Could be involved in endocytosis (By similarity)., [UniProtKB]", "predicted_glycosites": 8, "predicted_n_glycosites": 8, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 851, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A4QPA5", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8N1N0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N2M8-1", "uniprot_id": "CLASR_HUMAN", "mass": 77162.0, "length": 674, "protein_name": "CLK4-associating serine/arginine rich protein", "gene_name": "CLASRP", "organism": "Human", "refseq_name": "CLK4-associating serine/arginine rich protein isoform 2", "refseq_ac": "NP_001265368", "gene_names_uniprotkb": "CLASRP; PRO4988; SFRS16; SWAP2", "gene_names_refseq": "CLASP; CLASRP; SFRS16; SWAP2", "protein_names_uniprotkb": "CLK4-associating serine/arginine rich protein; Splicing factor, arginine/serine-rich 16; Suppressor of white-apricot homolog 2", "protein_names_refseq": "CLK4-associating serine/arginine rich protein isoform 2; Clk4 associating SR-related protein; splicing factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog, Drosophila); suppressor of white apricot homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:11129)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;12975309;15302935;16959974;17081983;17322306;18212344;18452278;18669648;18767875;19415658;19651622;19664995;19690332;20068231;20166139;21406692;23186163;23481700;24275569;26375851;27920218;28411811;28832583;29242379;29632711;30059200;30379171;30429286;30832715", "class_list": "", "function": "Data identified a significantly differentially methylated cg26985354 near gene CLASRP to be associated with cleft lip and cleft palate. Publication Status: Online-Only, [RefSeq, PubMed]; Probably functions as an alternative splicing regulator. May regulate the mRNA splicing of genes such as CLK1. May act by regulating members of the CLK kinase family (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "A0A0A0MQS2;B4DDT8;F8WAG9;O96026;Q6UW71;Q96DX2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8N2M8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N6U2-1", "uniprot_id": "CL033_HUMAN", "mass": 18370.0, "length": 182, "protein_name": "Putative uncharacterized protein encoded by LINC00612", "gene_name": "LINC00612", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC00612; C12orf33", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00612", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "23481700", "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": "B3KW01", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N6U2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N7H1-1", "uniprot_id": "CL061_HUMAN", "mass": 13435.0, "length": 131, "protein_name": "Putative uncharacterized protein encoded by LINC01465", "gene_name": "LINC01465", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC01465; C12orf61", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01465", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RMN9;Q3ZCV4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N7H1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NC38-1", "uniprot_id": "CA213_HUMAN", "mass": 14381.0, "length": 126, "protein_name": "Putative uncharacterized protein ZNF436-AS1", "gene_name": "ZNF436-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF436-AS1; C1orf213", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ZNF436-AS1; ZNF436 antisense RNA 1; ZNF436 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 10, "publication_id_list": "25576301;25645385;26154972;26992070;28834231;29557506;30429286;31848261;32157095;32561536", "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": "Q2VPR7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NC38-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEQ5-1", "uniprot_id": "CA162_HUMAN", "mass": 16886.0, "length": 155, "protein_name": "Transmembrane protein C1orf162", "gene_name": "C1orf162", "organism": "Human", "refseq_name": "transmembrane protein C1orf162 isoform 2", "refseq_ac": "NP_001287763", "gene_names_uniprotkb": "C1orf162", "gene_names_refseq": "C1orf162", "protein_names_uniprotkb": "Transmembrane protein C1orf162", "protein_names_refseq": "transmembrane protein C1orf162 isoform 2; transmembrane protein C1orf162", "tax_id": 9606, "disease": "", "pathway": " (hsa:128346)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "10.1101/2023.09.13.557529;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "Q5QNZ1", "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": "Q8NEQ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WTT0-1", "uniprot_id": "CLC4C_HUMAN", "mass": 25038.0, "length": 213, "protein_name": "C-type lectin domain family 4 member C", "gene_name": "CLEC4C", "organism": "Human", "refseq_name": "C-type lectin domain family 4 member C isoform 1", "refseq_ac": "NP_569708", "gene_names_uniprotkb": "CLEC4C; BDCA2; CLECSF11; CLECSF7; DLEC; HECL; PRO34150", "gene_names_refseq": "BDCA-2; BDCA2; CD303; CLEC4C; CLECSF11; CLECSF7; DLEC; HECL; PRO34150", "protein_names_uniprotkb": "C-type lectin domain family 4 member C; BDCA-2; Blood dendritic cell antigen 2; C-type lectin superfamily member 7; Dendritic lectin", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 11; C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7; C-type lectin domain family 4 member C isoform 1; C-type lectin superfamily member 7; blood dendritic cell antigen 2 protein; dendritic cell lectin b; dendritic lectin", "tax_id": 9606, "disease": "", "pathway": " (hsa:170482); (R-HSA-5621480); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 34, "publication_id_list": "11031109;11086035;11110698;11237011;11536172;11606584;11748283;12975309;14656219;15489334;17050534;18490740;18776906;18818202;21880719;22041900;23053572;23481700;23507963;23602766;23650620;24425442;25995448;28467828;29796630;30846987;31845972;32296183;33193389;34298400;8598452;8692836;8972730;9042338", "class_list": "glycogene", "function": "24F4A (BIIB059) is an antibody targeting BDCA2. Publication Status: Online-Only, [RefSeq, PubMed]; Lectin-type cell surface receptor which may play a role in antigen capturing by dendritic cells (PubMed:11748283, PubMed:21880719, PubMed:25995448). Specifically recognizes non-sialylated galactose-terminated biantennary glycans containing the trisaccharide epitope Gal(beta1-3/4)GlcNAc(beta1-2)Man (PubMed:21880719, PubMed:25995448). Binds to serum IgG (PubMed:25995448). Efficiently targets ligand into antigen-processing and peptide-loading compartments for presentation to T-cells (PubMed:11748283). May mediate potent inhibition of induction of IFN-alpha/beta expression in plasmacytoid dendritic cells (PubMed:11748283, PubMed:21880719). May act as a signaling receptor that activates protein-tyrosine kinases and mobilizes intracellular calcium (PubMed:11748283)., [UniProtKB, PubMed, PubMed, PubMed]; Re-evaluation of human BDCA-2+ DC during acute sterile skin inflammation., [RefSeq, PubMed]; The differentiation of new human CD303(+) Plasmacytoid dendritic cell subpopulations expressing CD205 and/or CD103 regulated by Non-Small-Cell lung cancer cells., [RefSeq, PubMed]; This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Zika Virus Inhibits IFN-alpha Response by Human Plasmacytoid Dendritic Cells and Induces NS1-Dependent Triggering of CD303 (BDCA-2) Signaling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 286, "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": "D3DUU3;Q3T1C3;Q6UXS8;Q8WXX8", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0030246 carbohydrate binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070821 tertiary granule membrane;GO:0009897 external side of plasma membrane;GO:0030667 secretory granule membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0002250 adaptive immune response;GO:0061760 antifungal innate immune response", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8WTT0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUX9-1", "uniprot_id": "CHMP7_HUMAN", "mass": 50911.0, "length": 453, "protein_name": "Charged multivesicular body protein 7", "gene_name": "CHMP7", "organism": "Human", "refseq_name": "charged multivesicular body protein 7 isoform 1", "refseq_ac": "NP_689485", "gene_names_uniprotkb": "CHMP7", "gene_names_refseq": "CHMP7", "protein_names_uniprotkb": "Charged multivesicular body protein 7; Chromatin-modifying protein 7", "protein_names_refseq": "CHMP family, member 7; charged multivesicular body protein 7 isoform 1; chromatin-modifying protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:91782); (R-HSA-162588); (R-HSA-1632852); (R-HSA-5620971); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710); (R-HSA-9668328); (R-HSA-9679504); (R-HSA-9694676)", "pathway_count": 10, "publication_count": 152, "publication_id_list": "11096062;11237011;11563910;11825910;14624836;15075231;15187094;15218037;15331731;15473846;16371348;16856878;16897187;16963840;16964243;16973552;17618624;17711858;18321988;18439900;18669648;19211835;19322194;19527882;19590496;19615748;19640981;19651622;19690332;19855179;19859801;19898463;20059746;20068231;20166139;20713597;20921139;21177865;21205641;21238931;21258367;21383122;21406692;21460621;21757351;21799305;21819378;2204156;22170151;22682742;22762019;23186163;23202584;23266279;23305486;23481700;23685627;23727157;23884233;24715725;24747438;24954904;25135833;25484072;25568151;25576301;25880248;25961502;26040712;26040713;26154972;26375003;26375851;26508369;26992070;27281216;27383986;27418190;27600516;27846572;27862975;2799391;28045099;28228285;28242692;28392147;28459430;28832583;28834231;28904123;29177860;29242379;29331515;29393594;29493099;29539421;29557506;29632711;29786170;29789417;29891674;29898893;29990470;30143555;30429286;30484775;30513301;30976076;31113851;31231549;31844290;32109412;32157095;32188940;32265295;32350084;32357974;32367036;32387766;32488085;32502341;32820063;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34286694;34321318;34357683;34509645;34932366;35051231;35251023;35580925;35962186;36010968;36241641;36284347;37074911;37639327;40914422;7628435", "class_list": "", "function": "CDK1 controls CHMP7-dependent nuclear envelope reformation. Publication Status: Online-Only, [RefSeq, PubMed]; ESCRT-III-like protein required to recruit the ESCRT-III complex to the nuclear envelope (NE) during late anaphase (PubMed:26040712). Together with SPAST, the ESCRT-III complex promotes NE sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712, PubMed:28242692). Recruited to the reforming NE during anaphase by LEMD2 (PubMed:28242692). Plays a role in the endosomal sorting pathway (PubMed:16856878)., [UniProtKB, PubMed, PubMed, PubMed]; Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS., [RefSeq, PubMed]; Oligomeric CHMP7 mediates three-way ER junctions and ER-mitochondria interactions., [RefSeq, PubMed]; Results suggest that CHMP7, a novel CHMP4-associated ESCRT-III-related protein, functions in the endosomal sorting pathway., [RefSeq, PubMed]; SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis., [RefSeq, PubMed]; UBPY MIT domain and another ubiquitin isopeptidase, AMSH, reveals common interactions with CHMP1A and CHMP1B but a distinct selectivity of AMSH for CHMP3/VPS24, a core subunit of the ESCRT-III complex, and UBPY for CHMP7. Erratum:[J Biol Chem. 2009 Mar 20;284(12):8207], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 9, "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": "B2RDT3;B4DKJ6;D3DSS1;Q8NDM1;Q9BT50", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0000421 autophagosome membrane;GO:0005635 nuclear envelope;GO:0005643 nuclear pore", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex;GO:0061763 multivesicular body-lysosome fusion", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q8WUX9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZ69-1", "uniprot_id": "CK040_HUMAN", "mass": 24620.0, "length": 217, "protein_name": "Putative uncharacterized protein C11orf40", "gene_name": "C11orf40", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "C11orf40; NOV1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein C11orf40; Ro/SSA1-related 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": "Q8WZ69-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96BS2-1", "uniprot_id": "CHP3_HUMAN", "mass": 24750.0, "length": 214, "protein_name": "Calcineurin B homologous protein 3", "gene_name": "TESC", "organism": "Human", "refseq_name": "calcineurin B homologous protein 3 isoform 2", "refseq_ac": "NP_001161797", "gene_names_uniprotkb": "TESC; CHP3", "gene_names_refseq": "CHP3; TESC; TSC", "protein_names_uniprotkb": "Calcineurin B homologous protein 3; TSC; Tescalcin", "protein_names_refseq": "calcineurin B homologous protein 3 isoform 2; calcineurin B homologous protein 3; calcineurin-like EF hand protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:54997)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;11696366;12809501;14661968;17717601;18321853;20060826;23481700;24714562;25255805;25502872;25807930;25892735;26375851;26728094;26811146;26992070;27920218;28467828;28832583;28834231;28904123;29242379;29314611;29317506;29393594;29557506;29632046;30287853;30833945;31844290;31848261;32350084;32502341;32609436;32897882;32983136;33392160;33691108;33717175;34021124;34171305;34357683;35051231;35251023;36284347;38000203", "class_list": "", "function": "Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Promotes the maturation, transport, cell surface stability and exchange activity of SLC9A1/NHE1 at the plasma membrane. Promotes the induction of hematopoietic stem cell differentiation toward megakaryocytic lineage. Essential for the coupling of ERK cascade activation with the expression of ETS family genes in megakaryocytic differentiation. Also involved in granulocytic differentiation in a ERK-dependent manner. Inhibits the phosphatase activity of calcineurin., [UniProtKB, PubMed, PubMed, PubMed]; Long non-coding RNA TUG1/microRNA-187-3p/TESC axis modulates progression of pituitary adenoma via regulating the NF-kappaB signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; TESC acts as a prognostic factor and promotes epithelial-mesenchymal transition progression in esophageal squamous carcinoma., [RefSeq, PubMed]; Tescalcin is an unfavorable prognosis factor that regulats cell proliferation and survival in hepatocellular carcinoma 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "F5H1Y5;Q9NWT9", "ec_number_list": "", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0004860 protein kinase inhibitor activity;GO:0019212 phosphatase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0030219 megakaryocyte differentiation;GO:0030854 positive regulation of granulocyte differentiation;GO:0033628 regulation of cell adhesion mediated by integrin;GO:0008285 negative regulation of cell population proliferation;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q96BS2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96K31-1", "uniprot_id": "CH076_HUMAN", "mass": 43273.0, "length": 380, "protein_name": "Uncharacterized protein C8orf76", "gene_name": "C8orf76", "organism": "Human", "refseq_name": "uncharacterized protein C8orf76", "refseq_ac": "NP_116236", "gene_names_uniprotkb": "C8orf76", "gene_names_refseq": "C8orf76", "protein_names_uniprotkb": "Uncharacterized protein C8orf76", "protein_names_refseq": "uncharacterized protein C8orf76", "tax_id": 9606, "disease": "", "pathway": " (hsa:84933)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "23481700;24714562;25469497;25880248;26992070;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;30315122;30410026;30484775;30733230;30833945;31092671;31530632;31844290;31848261;32265295;32502341;33141586;35482249", "class_list": "", "function": "C8orf76 amplication or overexpression plays a pivotal oncogenic role in gastric carcinogenesis and is an independent prognostic factor for gastric cancer patients., [RefSeq, PubMed]; High Expression of C8orf76 Is an Independent Predictive Factor of Poor Prognosis in Patients 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q53HC1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96K31-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96N11-1", "uniprot_id": "INT15_HUMAN", "mass": 50047.0, "length": 449, "protein_name": "Integrator complex subunit 15", "gene_name": "INTS15", "organism": "Human", "refseq_name": "integrator complex subunit 15 isoform 2", "refseq_ac": "NP_001289968", "gene_names_uniprotkb": "INTS15; C7orf26", "gene_names_refseq": "C7orf26; INTS15", "protein_names_uniprotkb": "Integrator complex subunit 15", "protein_names_refseq": "integrator complex subunit 15 isoform 2; uncharacterized protein C7orf26", "tax_id": 9606, "disease": "", "pathway": " (hsa:79034)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;24715725;26811146;28904123;29557506;30833945;31154438;31217245;31844290;32157095;32161166;32265295;32502341;32938616;33141586;33691108;33973408;35051231;35561310;35580925;36284347;36851842;36920904;38570683;38823386;39032490", "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:36920904, PubMed:38570683, PubMed:38823386). 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: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:38570683). INTS15 is part of the integrator tail module that acts as a platform for the recruitment of transcription factors at promoters (PubMed:38823386). Within the integrator complex, INTS15 is required to bridge different integrator modules (PubMed:36920904)., [UniProtKB, PubMed, PubMed, PubMed]; Integrator complex subunit 15 controls mRNA splicing and is critical for eye development., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BQ43", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome;GO:0032039 integrator complex;GO:0160232 INTAC complex", "go_biological_process": "GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0016180 snRNA processing;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96N11-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99674-4", "uniprot_id": "CGRE1_HUMAN", "mass": 33456.0, "length": 318, "protein_name": "Cell growth regulator with EF hand domain protein 1", "gene_name": "CGREF1", "organism": "Human", "refseq_name": "cell growth regulator with EF hand domain protein 1 isoform a precursor", "refseq_ac": "NP_001159711", "gene_names_uniprotkb": "CGREF1; CGR11", "gene_names_refseq": "CGR11; CGREF1", "protein_names_uniprotkb": "Cell growth regulator with EF hand domain protein 1; Cell growth regulatory gene 11 protein; Hydrophobestin", "protein_names_refseq": "cell growth regulator with EF hand domain protein 1 isoform a precursor; cell growth regulator with EF hand domain protein 1; cell growth regulatory gene 11 protein; hydrophobestin", "tax_id": 9606, "disease": "", "pathway": " (hsa:10669)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1038/emboj.2013.79;19913121;20628086;23584533;26022276;29237092;30459171;31492838;32350084;33592498;40307207;8968090", "class_list": "", "function": "Mediates cell-cell adhesion in a calcium-dependent manner (By similarity). Able to inhibit growth in several cell lines., [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]; Results clearly indicated that CGREF1 is a novel secretory protein, and plays an important role in regulation of AP-1 transcriptional activity and 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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A6NHV7;B4DXY8;B5MCB7;B5MCC9;B5MCP5;E7EU99;Q8N4B7", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007155 cell adhesion;GO:0008285 negative regulation of cell population proliferation;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q99674-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BY43-1", "uniprot_id": "CHM4A_HUMAN", "mass": 25098.0, "length": 222, "protein_name": "Charged multivesicular body protein 4a", "gene_name": "CHMP4A", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CHMP4A; C14orf123; CDA04; HSPC134; SHAX2", "gene_names_refseq": "", "protein_names_uniprotkb": "Charged multivesicular body protein 4a; CHMP4a; Chromatin-modifying protein 4a; SNF7 homolog associated with Alix-2; SNF7-1; Vacuolar protein sorting-associated protein 32-1; Vps32-1; hSnf-1; hVps32-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:29082); (R-HSA-162588); (R-HSA-1632852); (R-HSA-5620971); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710); (R-HSA-9668328); (R-HSA-9679504); (R-HSA-9694676)", "pathway_count": 10, "publication_count": 143, "publication_id_list": "11096062;11237011;11563910;11825910;12860994;14505569;14505570;14519844;14583093;14624836;14678797;15075231;15187094;15218037;15331731;15473846;15632132;16371348;16897187;16963840;16973552;17547705;17618624;17853893;18209100;18321988;18439900;18511562;19211835;19322194;19527882;19590496;19640981;19855179;19859801;19898463;20059746;20713597;20921139;21177865;21205641;21238931;21258367;21383122;21460621;21757351;21799305;21819378;2204156;22170151;22660413;22682742;22762019;23202584;23266279;23305486;23481700;23685627;23727157;23884233;24275569;24366607;24714562;24747438;24954904;25135833;25484072;25568151;25576301;25961502;26040712;26040713;26154972;26375003;26508369;26728094;26992070;27281216;27383986;27418190;27600516;27862975;27920218;2799391;28045099;28063628;28218747;28228285;28242692;28392147;28459430;28832583;28834231;28904123;29177860;29242379;29393594;29437277;29508533;29539421;29557506;29632046;29632711;29786170;29891674;29898893;29990470;30143555;30315122;30513301;30779550;30833945;30976076;31092671;31113851;31231549;31530632;31844290;31998317;32109412;32157095;32161166;32188940;32265295;32350084;32367036;32387766;32502341;32820063;32938616;32983136;33298915;33592498;33691108;33717175;33968037;34078123;34087483;34171305;35051231;35154160;35580925;7628435", "class_list": "", "function": "Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed, membrane-assembled circular arrays of CHMP4A filaments can promote or stabilize negative curvature and outward budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14D22;Q32Q79;Q86SZ8;Q96QJ9;Q9P026", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0051117 ATPase binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0000421 autophagosome membrane;GO:0005634 nucleus;GO:0005635 nuclear envelope", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0006620 post-translational protein targeting to endoplasmic reticulum membrane;GO:0010324 membrane invagination;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "Q9BY43-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H3J6-1", "uniprot_id": "MTRFR_HUMAN", "mass": 18828.0, "length": 166, "protein_name": "Mitochondrial translation release factor in rescue", "gene_name": "C12orf65; MTRFR", "organism": "Human", "refseq_name": "mitochondrial translation release factor in rescue", "refseq_ac": "NP_001137377", "gene_names_uniprotkb": "C12orf65; MTRFR; C12orf65; My030", "gene_names_refseq": "C12orf65; COXPD7; MTRFR; SPG55; mtRF-R", "protein_names_uniprotkb": "Mitochondrial translation release factor in rescue", "protein_names_refseq": "mitochondrial translation release factor in rescue; probable peptide chain release factor C12orf65, mitochondrial", "tax_id": 9606, "disease": "hereditary spastic paraplegia 55 (Disease Ontology:DOID:0110807); combined oxidative phosphorylation deficiency 7 (Disease Ontology:DOID:0111487)", "pathway": " (hsa:91574); (R-HSA-9937383)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "11237011;20186120;20598281;22424782;22821833;23188110;23481700;24080142;24198383;24715725;25995486;26380172;27029019;28218747;28228285;28832583;28892042;28904123;29242379;29393594;29493099;29557506;29632046;29632711;31396629;31844290;31998317;32157095;32161166;32265295;32387766;32478789;32502341;32808965;32897882;32938616;33141586;33243891;33691108;33878294;33936100;33968037;34405274;34509645;35051231;35260756;36010968;36241641;37217939", "class_list": "", "function": "C12orf65 might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation., [RefSeq, PubMed]; Knockdown of C12orf65 resulted in increased reactive oxidative species production and apoptosis, leading to inhibition of cell proliferation., [RefSeq, PubMed]; Part of a mitoribosome-associated quality control pathway that prevents aberrant translation by responding to interruptions during elongation (PubMed:33243891). As heterodimer with MTRES1, ejects the unfinished nascent chain and peptidyl transfer RNA (tRNA), respectively, from stalled ribosomes. Recruitment of mitoribosome biogenesis factors to these quality control intermediates suggests additional roles for MTRES1 and MTRF during mitoribosome rescue (PubMed:33243891)., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8WUC6", "ec_number_list": "", "go_molecular_function": "GO:0004045 peptidyl-tRNA hydrolase activity;GO:0000049 tRNA binding;GO:0003747 translation release factor activity;GO:0043023 ribosomal large subunit binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0070126 mitochondrial translational termination", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9H3J6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H425-1", "uniprot_id": "CA198_HUMAN", "mass": 36346.0, "length": 327, "protein_name": "Uncharacterized protein C1orf198", "gene_name": "C1orf198", "organism": "Human", "refseq_name": "uncharacterized protein C1orf198 isoform 2", "refseq_ac": "NP_001129966", "gene_names_uniprotkb": "C1orf198", "gene_names_refseq": "C1orf198", "protein_names_uniprotkb": "Uncharacterized protein C1orf198", "protein_names_refseq": "uncharacterized protein C1orf198 isoform 2; uncharacterized protein C1orf198", "tax_id": 9606, "disease": "", "pathway": " (hsa:84886)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;12665801;18077418;18220336;19664994;19690332;22361696;23186163;24275569;25418920;25576301;25892735;26992070;27600516;27862975;28218747;28657654;28832583;28904123;29314611;29331515;29557506;29786170;30379171;30429286;30484775;31154438;31492838;31844290;32157095;32387766;32502341;32897882;32938616;33392160;33537174;33592498;33936100;33968037;34087483;34171305;34357683;35051231;35154160;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K8R8;B3KTW1;G5EA08", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9H425-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H7E9-1", "uniprot_id": "CH033_HUMAN", "mass": 24993.0, "length": 229, "protein_name": "UPF0488 protein C8orf33", "gene_name": "C8orf33", "organism": "Human", "refseq_name": "UPF0488 protein C8orf33", "refseq_ac": "NP_075568", "gene_names_uniprotkb": "C8orf33", "gene_names_refseq": "C8orf33", "protein_names_uniprotkb": "UPF0488 protein C8orf33", "protein_names_refseq": "UPF0488 protein C8orf33", "tax_id": 9606, "disease": "", "pathway": " (hsa:65265)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;20068231;24129315;25576301;26811146;27600516;27846572;27862975;27920218;28228285;28510447;28832583;28904123;29242379;29351928;29393594;29508533;30429286;30484775;30524438;31844290;31998317;32157095;32265295;32350084;32387766;32488085;32897882;32938616;32983136;33592498;33968037;33981976;34171305;35051231;35580925;36241641;40596516", "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": 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": "A6NGC0;Q96BT8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9H7E9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H8G2-1", "uniprot_id": "CAAP1_HUMAN", "mass": 38368.0, "length": 361, "protein_name": "Caspase activity and apoptosis inhibitor 1", "gene_name": "CAAP1", "organism": "Human", "refseq_name": "caspase activity and apoptosis inhibitor 1 isoform 2", "refseq_ac": "NP_001161047", "gene_names_uniprotkb": "CAAP1; C9orf82; CAAP", "gene_names_refseq": "C9orf82; CAAP1; CAAP", "protein_names_uniprotkb": "Caspase activity and apoptosis inhibitor 1; CAAP; Conserved anti-apoptotic protein", "protein_names_refseq": "caspase activity and apoptosis inhibitor 1 isoform 2; conserved anti-apoptotic protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79886)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;15302935;16964243;17081983;17525332;18318008;18452278;18669648;18691976;18767875;19240061;19413330;19651622;19664994;19664995;19690332;20068231;21406692;21980415;23186163;23481700;24275569;24715725;25505266;25576301;28228285;28904123;29557506;29605689;30524438;31530632;31844290;31998317;32315812;32938616;33298915;33336752;33592498;33968037;35051231;36870674;37217939", "class_list": "", "function": "Anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback amplification loop., [UniProtKB, PubMed]; LncRNA LncOGD-1006 alleviates OGD-induced ischemic brain injury regulating apoptosis through miR-184-5p/CAAP1 axis., [RefSeq, PubMed]; MKL1/miR-5100/CAAP1 loop regulates autophagy and apoptosis in gastric cancer cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Proteomic analysis reveals CAAP1 negatively correlates with platinum resistance in ovarian cancer., [RefSeq, PubMed]; The data suggest that C9orf82 functions as an anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback amplification loop. It is designated as Conserved Anti-Apoptotic Protein (CAAP)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DWT4;D3DRK4;Q5VY32;Q6IPE6;Q96C59", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9H8G2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBT6-1", "uniprot_id": "CAD20_HUMAN", "mass": 88993.0, "length": 801, "protein_name": "Cadherin-20", "gene_name": "CDH20", "organism": "Human", "refseq_name": "cadherin-20 preproprotein", "refseq_ac": "NP_114097", "gene_names_uniprotkb": "CDH20; CDH7L3", "gene_names_refseq": "CDH20; CDH7L3; Cdh7", "protein_names_uniprotkb": "Cadherin-20", "protein_names_refseq": "cadherin 20, type 2; cadherin-20 preproprotein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:28316)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10995570;16959974;19664994;19690890;28904123;29557506;31154438;32387766;33392160;35051231;35251023", "class_list": "", "function": "Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "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": "Q495S3", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005912 adherens junction;GO:0016342 catenin complex", "go_biological_process": "GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0034332 adherens junction organization", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9HBT6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX76-1", "uniprot_id": "CKLF6_HUMAN", "mass": 20419.0, "length": 183, "protein_name": "CKLF-like MARVEL transmembrane domain-containing protein 6", "gene_name": "CMTM6", "organism": "Human", "refseq_name": "CKLF-like MARVEL transmembrane domain-containing protein 6", "refseq_ac": "NP_060271", "gene_names_uniprotkb": "CMTM6; CKLFSF6", "gene_names_refseq": "CKLFSF6; CMTM6; PRO2219", "protein_names_uniprotkb": "CKLF-like MARVEL transmembrane domain-containing protein 6; Chemokine-like factor superfamily member 6", "protein_names_refseq": "CKLF-like MARVEL transmembrane domain-containing protein 6; chemokine-like factor super family 6; chemokine-like factor superfamily 6; chemokine-like factor superfamily member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:54918); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "12782130;19748539;20068231;22223895;23186163;23650620;28218747;28489076;28813410;28813417;29242379;31154438;31530632;31844290;32488085;33043033;33968037;33981976;38113979;38165704;38221563;38665916;38686653;39218981;8692836", "class_list": "", "function": "Autophagy-related CMTM6 promotes glioblastoma progression by activating Wnt/beta-catenin pathway and acts as an onco-immunological biomarker., [RefSeq, PubMed]; Bioinformatics analysis of CMTM family in pan-cancer and preliminary exploration of CMTM6 in bladder cancer., [RefSeq, PubMed]; Bioinformatics based on CKLF2 cDNA and protein sequences in combination with experimental validation identified CKLFSF1-8 gene clusters, between the SCY and the TM4SF gene families. The 8 family members were cloned and characterized., [RefSeq, PubMed]; CMTM 6 promotes the development of thyroid cancer by inhibiting NIS activity through activating the MAPK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; CMTM6 depletion, via the reduction of PD-L1, significantly alleviates the suppression of tumour-specific T cell activity in vitro and in vivo; findings provide insights into the biology of PD-L1 regulation, identify a previously unrecognized master regulator of this critical immune checkpoint and highlight a potential therapeutic target to overcome immune evasion by tumour cells, [RefSeq, PubMed]; CMTM6 is present at the cell surface, associates with the PD-L1 protein, reduces its ubiquitination and increases PD-L1 protein half-life; CMTM6 enhances the ability of PD-L1-expressing tumour cells to inhibit T cells; collectively, our data reveal that PD-L1 relies on CMTM6/4 to efficiently carry out its inhibitory function, and suggest potential new avenues to block this pathway, [RefSeq, PubMed]; CMTM6 mediates the Warburg effect and promotes the liver metastasis of colorectal cancer., [RefSeq, PubMed]; Master regulator of recycling and plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity. Associates with both constitutive and IFNG-induced PD-L1/CD274 at recycling endosomes, where it protects PD-L1/CD274 from being targeted for lysosomal degradation, likely by preventing its STUB1-mediated ubiquitination. May stabilize PD-L1/CD274 expression on antigen presenting cells and potentiates inhibitory signaling by PDCD1/CD279, its receptor on T-cells, ultimately triggering T-cell anergy., [UniProtKB, PubMed, PubMed]; This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]., [RefSeq]; Transmembrane Protein CMTM6 Alleviates Ocular Inflammatory Response and Improves Corneal Epithelial Barrier Function in Experimental Dry Eye., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q6IAC4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0035579 specific granule membrane;GO:0031901 early endosome membrane;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0015031 protein transport;GO:0031647 regulation of protein stability;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9NX76-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NY25-1", "uniprot_id": "CLC5A_HUMAN", "mass": 21521.0, "length": 188, "protein_name": "C-type lectin domain family 5 member A", "gene_name": "CLEC5A", "organism": "Human", "refseq_name": "C-type lectin domain family 5 member A isoform 1", "refseq_ac": "NP_037384", "gene_names_uniprotkb": "CLEC5A; CLECSF5; MDL1", "gene_names_refseq": "CLEC5A; CLECSF5; MDL-1; MDL1", "protein_names_uniprotkb": "C-type lectin domain family 5 member A; C-type lectin superfamily member 5; MDL-1; Myeloid DAP12-associating lectin 1", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5; C-type lectin domain family 5 member A isoform 1; C-type lectin domain family 5 member A; C-type lectin superfamily member 5; myeloid DAP12-associating lectin-1", "tax_id": 9606, "disease": "polycystic ovary syndrome (Disease Ontology:DOID:11612)", "pathway": " (hsa:23601); (R-HSA-2172127); (R-HSA-6798695); (R-HSA-9920588)", "pathway_count": 4, "publication_count": 54, "publication_id_list": "10049942;10449773;10604985;10940905;11237011;11602640;12668644;12776204;14707061;15265913;15557162;15884055;15940674;16623599;16920917;16933987;17012248;17110943;17202323;17483134;17641029;18496526;18624290;18629938;19754307;19858347;20057064;20093094;20212065;20865034;20890284;21566123;23650620;24173023;26992070;27832191;28764923;29557506;30429286;30550790;31867016;32152943;32432721;32778820;35252461;35580925;35820906;36571274;36856214;39097839;8692836;9490415;9625766;9655483", "class_list": "glycogene", "function": "(Microbial infection) Critical macrophage receptor for dengue virus serotypes 1-4 (PubMed:18496526, PubMed:21566123). The binding of dengue virus to CLEC5A triggers signaling through the phosphorylation of TYROBP (PubMed:18496526). This interaction does not result in viral entry, but stimulates pro-inflammatory cytokine release (PubMed:18496526)., [UniProtKB, PubMed, PubMed]; Activation of the Innate Immune Checkpoint CLEC5A on Myeloid Cells in the Absence of Danger Signals Modulates Macrophages' Function but Does Not Trigger the Adaptive T Cell Immune Response. Publication Status: Online-Only, [RefSeq, PubMed]; Blockade of CLEC5A-mediated signalling attenuates the production of proinflammatory cytokines by macrophages infected with Dengue virus (either alone or complexed with an enhancing antibody), [RefSeq, PubMed]; CLEC5A and TLR2 are critical in SARS-CoV-2-induced NET formation and lung inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; CLEC5A expression can be triggered by spike glycoprotein and may be a potential target for COVID-19 therapy., [RefSeq, PubMed]; Functions as a positive regulator of osteoclastogenesis (By similarity). Cell surface receptor that signals via TYROBP (PubMed:10449773). Regulates inflammatory responses (By similarity)., [UniProtKB, PubMed, UniProtKB]; The crystal volume per unit weight (VM) was calculated to be 2.34 A3 Da-1, with nine molecules per asymmetric unit and a solvent content of 47.38%. CLEC5A plays an important role in the pathophysiology of dengue-virus-induced disease., [RefSeq, PubMed]; The influence of CLEC5A on early macrophage-mediated inflammation in COPD progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein interacts with dnax-activation protein 12 and may play a role in cell activation. Alternative splice variants have been described but their full-length sequence has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; [Overexpression of CLEC5A inhibits cell proliferation and metastasis and reverses epithelial-mesenchymal transition in hepatocellular carcinoma]., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 250, "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": "Q52M11;Q9UKQ0", "ec_number_list": "", "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0045087 innate immune response;GO:0006968 cellular defense response;GO:0001819 positive regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9NY25-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NY47-1", "uniprot_id": "CA2D2_HUMAN", "mass": 129817.0, "length": 1150, "protein_name": "Voltage-dependent calcium channel subunit alpha-2/delta-2", "gene_name": "CACNA2D2", "organism": "Human", "refseq_name": "voltage-dependent calcium channel subunit alpha-2/delta-2 isoform a precursor", "refseq_ac": "NP_001005505", "gene_names_uniprotkb": "CACNA2D2; KIAA0558", "gene_names_refseq": "CACNA2D2; CACNA2D; CASVDD", "protein_names_uniprotkb": "Voltage-dependent calcium channel subunit alpha-2/delta-2; Voltage-gated calcium channel subunit alpha-2/delta-2", "protein_names_refseq": "alpha 2 delta calcium channel subunit; alpha2delta-2; calcium channel, voltage-dependent, alpha 2/delta subunit 2; gene 26; voltage-dependent calcium channel subunit alpha-2/delta-2 isoform a precursor; voltage-gated calcium channel subunit alpha-2/delta-2", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); cerebellar atrophy with seizures and variable developmental delay (Disease Ontology:DOID:0070741); heart conduction disease (Disease Ontology:DOID:10273); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:9254); (R-HSA-112308); (R-HSA-400042); (R-HSA-422356); (R-HSA-5576892); (R-HSA-5576893); (R-HSA-9662360)", "pathway_count": 7, "publication_count": 151, "publication_id_list": "10.1101/2023.09.13.557529;10025409;10194514;10206966;10342826;10424882;10449730;10526167;10646604;10762351;10766861;10773014;10866047;10868950;10948191;11078440;11078469;11163272;11237011;11264248;11290418;11577798;11687876;11716850;11780755;11815450;11815460;11815462;11815463;11873862;12196472;12403834;12475777;12555074;12684222;12764427;12887316;1309946;1309948;13459201;14500339;14514350;15000524;15000528;15111129;15305887;15504896;15572341;15585596;15678092;16332676;16352729;16371464;16373322;16443778;1645720;16513675;16556766;16714477;16868246;17021801;17095603;17259518;17380317;17660294;17900700;17919183;18093912;18162464;18184654;18346985;1849000;18596924;19258039;19349973;19406745;19587354;20086079;21127204;21566136;21817159;22054663;22514276;23339110;23402298;23719902;23804213;23992284;24358150;24591645;25619833;25645385;25966690;26517901;28218747;28832583;29108130;29242379;29437277;29557506;29632711;29769354;29997391;30410802;30429286;30779550;31067468;31154438;31848261;32157095;32350084;32387766;32983136;33592498;33798445;33981976;34171305;34185709;35051231;3517644;35251023;35580925;37074911;3923453;6019353;6424440;6435940;7589840;7593639;7641683;7929812;8027028;8099279;8107964;8277227;8457197;8662784;8675920;8778232;8825650;8987985;8997178;9350615;9707174;9726229;9739505;9751501;9760042;9880589;9914469;9920805", "class_list": "", "function": "Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]., [RefSeq]; Show that the action of alpha2delta2 on tumor development occurs not only through a stimulation of proliferation, [RefSeq, PubMed]; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G) (PubMed:15111129, PubMed:23339110). Overexpression induces apoptosis., [UniProtKB, PubMed, PubMed, PubMed]; The investigation of single nucleotide polymorphisms in three genes that have a functional impact on the opioid response: OPRM1, ABCB1 and the calcium channel complex subunit CACNA2D2, is reported. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 6, "disease_count": 4, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A7MD15;Q9NY48;Q9UEW0;Q9Y268", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0005245 voltage-gated calcium channel activity;GO:0005262 calcium channel activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0005891 voltage-gated calcium channel complex;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0098696 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q9NY47-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P0X4-1", "uniprot_id": "CAC1I_HUMAN", "mass": 245103.0, "length": 2223, "protein_name": "Voltage-dependent T-type calcium channel subunit alpha-1I", "gene_name": "CACNA1I", "organism": "Human", "refseq_name": "voltage-dependent T-type calcium channel subunit alpha-1I isoform b", "refseq_ac": "NP_001003406", "gene_names_uniprotkb": "CACNA1I; KIAA1120", "gene_names_refseq": "CACNA1I; Cav3.3; NEDSIS; ca(v)3.3", "protein_names_uniprotkb": "Voltage-dependent T-type calcium channel subunit alpha-1I; Ca(v)3.3; Voltage-gated calcium channel subunit alpha Cav3.3", "protein_names_refseq": "calcium channel, voltage-dependent, T type, alpha 1I subunit; calcium channel, voltage-dependent, alpha 1I subunit; voltage-dependent T-type calcium channel subunit alpha-1I isoform b; voltage-dependent T-type calcium channel subunit alpha-1I; voltage-gated calcium channel subunit alpha Cav3.3", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446); schizophrenia (Disease Ontology:DOID:5419); neurodevelopmental disorder with speech impairment and with or without seizures (MONDO:MONDO:0859313)", "pathway": " (hsa:8911); (R-HSA-419037); (R-HSA-445355)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10454147;10749850;10991994;11242081;11457814;11532985;11889009;11927664;12048254;12080115;12765789;14506282;14627618;15254077;15377279;156362;16267048;16740636;17055381;18059411;18974361;1930128;19380584;22421042;22778174;23481700;23834404;24872348;2526655;26362469;2764880;27679490;2809592;28741090;28832583;28904123;29242379;29557506;29786170;29789417;31222486;32387766;32488085;32502341;32938616;33704440;33912179;33968037;34919654;35051231;35254053;35580925;36786913;3780718;38763272;39894887;8262246;8858389;9398268;9481611;9598563;9600334;9855623", "class_list": "", "function": "Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort., [RefSeq, PubMed]; CatSper1 and CatSper2 can associate with and modulate the function of the Ca(v)3.3 channel, which might be important in the regulation of sperm function., [RefSeq, PubMed]; G protein beta subunits regulate Cav3.3 T-type channel activity and current kinetics via interaction with the Cav3.3 C-terminus., [RefSeq, PubMed]; Intracellular regions after repeats I and IV play a role in gating interdependently, suggesting a direct interaction, and splice variation of Cav3.3 channels provides a mechanism for fine-tuning latency and duration of low-threshold spikes., [RefSeq, PubMed]; Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability., [RefSeq, PubMed]; This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]., [RefSeq]; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents., [UniProtKB, PubMed, PubMed, PubMed]; Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes., [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 57, "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": "B0QY12;B0QY13;B0QY14;O95504;Q5JZ88;Q7Z6S9;Q8NFX6;Q9NZC8;Q9UH15;Q9UH30;Q9ULU9;Q9UNE6", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005245 voltage-gated calcium channel activity;GO:0008331 high voltage-gated calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005891 voltage-gated calcium channel complex", "go_biological_process": "GO:0007165 signal transduction;GO:0098703 calcium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9P0X4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P289-1", "uniprot_id": "STK26_HUMAN", "mass": 46529.0, "length": 416, "protein_name": "Serine/threonine-protein kinase 26", "gene_name": "STK26", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 26 isoform 3", "refseq_ac": "NP_001035917", "gene_names_uniprotkb": "STK26; MASK; MST4", "gene_names_refseq": "MASK; MST4; STK26", "protein_names_uniprotkb": "Serine/threonine-protein kinase 26; 2.7.11.1; MST-4; MST3 and SOK1-related kinase; Mammalian STE20-like protein kinase 4; STE20-like kinase MST4; Serine/threonine-protein kinase MASK", "protein_names_refseq": "Mst3 and SOK1-related kinase; STE20-like kinase 4; STE20-like kinase MST4; mammalian Ste20-like protein kinase 4; mammalian sterile 20-like 4; serine/threonine protein kinase 26; serine/threonine protein kinase MST4; serine/threonine-protein kinase 26 isoform 3; serine/threonine-protein kinase MASK", "tax_id": 9606, "disease": "cerebral cavernous malformation (Disease Ontology:DOID:0060669); nervous system disease (Disease Ontology:DOID:863)", "pathway": " (hsa:51765); (R-HSA-111465)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10200466;10453075;10490026;11106668;11278797;11306563;11313965;11463840;11641781;11741893;12107159;12668660;15037601;16123041;16983089;17297457;17344846;17360971;18669648;18691976;18767875;18782753;19369195;19370760;19651622;19690332;20068231;20332113;20730082;21406692;23186163;23301498;23481700;23646949;24366607;24556848;25418920;25576301;26154972;26405038;26992070;27807006;27846572;27920218;28218747;28228285;28510447;28832583;28904123;29232556;29242379;29437277;29493099;29508533;29632046;29632711;29786170;29789417;30315122;30410026;30484775;30524438;31530632;31844290;32157095;32357974;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33717175;33912179;33968037;34357683;34932366;35051231;35318648;36010968;36552828;37094736;37490000;37833401;38579991;40914422;8976194;9252332;9325343;9431985;9973322", "class_list": "", "function": "Cloning of a germinal center iii kinase that induces apoptosis, [RefSeq, PubMed]; MST4 kinase regulates immune thrombocytopenia by phosphorylating STAT1-mediated M1 polarization of macrophages. Erratum:[Cell Mol Immunol. 2023 Dec;20(12):1533. doi: 10.1038/s41423-023-01094-x. PMID: 37907780], [RefSeq, PubMed]; MST4: A Potential Oncogene and Therapeutic Target in Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Mst4, a novel cardiac STRIPAK complex-associated kinase, regulates cardiomyocyte growth and survival and is upregulated in human cardiomyopathy., [RefSeq, PubMed]; STE20-type kinases MST3 and MST4 promote the progression of hepatocellular carcinoma: Evidence from human cell culture and expression profiling of liver biopsies., [RefSeq, PubMed]; Serine/threonine-protein kinase that acts as a mediator of cell growth (PubMed:11641781, PubMed:17360971). Modulates apoptosis (PubMed:11641781, PubMed:17360971). In association with STK24 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation (PubMed:27807006). Phosphorylates ATG4B at 'Ser-383', thereby increasing autophagic flux (PubMed:29232556). Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (PubMed:18782753)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The mammalian Sterile 20-like kinase 4 (MST4) signaling in tumor progression: Implications for therapy. Review article, [RefSeq, PubMed]; The product of this gene is a member of the GCK group III family of kinases, which are a subset of the Ste20-like kinases. The encoded protein contains an amino-terminal kinase domain, and a carboxy-terminal regulatory domain that mediates homodimerization. The protein kinase localizes to the Golgi apparatus and is specifically activated by binding to the Golgi matrix protein GM130. It is also cleaved by caspase-3 in vitro, and may function in the apoptotic pathway. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, 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": 11, "reported_mutagensis": 1, "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": "B2RAU2;Q3ZB77;Q8NC04;Q9BXC3;Q9BXC4", "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;3.4.22.56;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005798 Golgi-associated vesicle;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0006915 apoptotic process;GO:0030336 negative regulation of cell migration;GO:0046777 protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9P289-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBR2-1", "uniprot_id": "CATZ_HUMAN", "mass": 33868.0, "length": 303, "protein_name": "Cathepsin Z", "gene_name": "CTSZ", "organism": "Human", "refseq_name": "cathepsin Z preproprotein", "refseq_ac": "NP_001327", "gene_names_uniprotkb": "CTSZ", "gene_names_refseq": "CTSX; CTSZ", "protein_names_uniprotkb": "Cathepsin Z; 3.4.18.1; Cathepsin P; Cathepsin X", "protein_names_refseq": "carboxypeptidase LB; cathepsin B2; cathepsin IV; cathepsin P; cathepsin X; cathepsin Y; cathepsin Z preproprotein; cathepsin Z1; cysteine-type carboxypeptidase; lysosomal carboxypeptidase B; preprocathepsin P", "tax_id": 9606, "disease": "", "pathway": " (hsa:1522); (R-HSA-2022377); (R-HSA-204005); (R-HSA-432720); (R-HSA-5694530); (R-HSA-6798695)", "pathway_count": 6, "publication_count": 237, "publication_id_list": "37639587;10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10394364;10436028;10445031;10504234;10536878;10559958;10559959;10652252;10653162;10653163;10656802;10679020;10745011;10747087;10760573;10788476;10825291;10899625;10903204;10924499;10969042;10982397;11035026;11139587;11237011;11285137;11306556;11333915;11502696;11604418;11694590;11815627;11927603;11994746;12045255;12070132;12235121;12237308;12540854;12927775;14747736;15037235;15283675;16129679;16155256;16303754;16495487;16624868;1668266;16790432;16867982;16912714;17005010;17010120;17038314;17116749;17138938;17192411;17287728;17316621;17499046;17562788;17607000;17684057;17704566;18025080;18283111;18287528;1848554;1851160;18843296;19159218;19164740;19265014;19269366;19559397;19566487;19638414;19651769;19656848;19800993;20230749;20380117;20427317;20477988;20533886;20545907;20679433;20708039;20805473;20889553;20966969;21478858;21525241;21532587;21620353;21689688;21878990;22013193;22157747;22193701;2266130;22675024;22869377;23090970;23378591;23446738;23479643;23650620;23698585;23852824;23864707;24119662;24141856;24190977;2443571;24714562;24917561;25202031;25406594;25418920;25492864;25502872;25505266;25576301;2558510;25586378;25619252;25619253;25892735;26375851;26728094;26992070;2708524;27397612;27600516;27726376;27846572;27862975;27920218;28063628;28218747;28228285;2846041;28467828;28649982;28832583;28904123;29242379;29314611;29317506;29393594;29437277;29508533;29557506;29632046;29632711;29741879;29769354;29786170;3017438;30315122;30410026;30484775;30573663;30626607;31154438;31217245;31844290;32157095;32161166;32265295;32350084;32357974;32488085;32938616;32983136;33043033;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34078123;34089345;34357683;34433824;35051231;35154160;35163706;35251023;35580925;36215666;36241641;36284347;37020415;37074911;37210216;38184627;383475;38665916;39190024;4289389;4322712;4330891;4360430;6269175;6270633;6303766;6807977;7980644;8221884;8374173;8524399;8620540;8663406;8670264;8692836;9094723;9150144;9169443;9177194;9307973;9395526;9472029;9570564;9642240;9647643;9733768;9738465", "class_list": "", "function": "Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; Defective cathepsin Z affects EGFR expression and causes autosomal dominant palmoplantar keratoderma., [RefSeq, PubMed]; Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity (PubMed:10504234). Capable of producing kinin potentiating peptides (By similarity)., [UniProtKB, PubMed, UniProtKB]; Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity. Capable of producing kinin potentiating peptides., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Granulomatous rosacea in Chinese patients: Clinical-histopathological analysis and pathogenesis exploration., [RefSeq, PubMed]; PDCD4 interacting with PIK3CB and CTSZ promotes the apoptosis of multiple myeloma cells., [RefSeq, PubMed]; The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008]., [RefSeq]; Upregulation of Cathepsin X in Glioblastoma: Interplay with gamma-Enolase and the Effects of Selective Cathepsin X Inhibitors. 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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RC40;O75331;Q9UQV5;Q9UQV6", "ec_number_list": "3.1.22.1;1.8.3.2;3.4.19.12;3.6.4.13;2.7.1.35;2.3.1.-;3.1.3.-;1.1.1.42;2.4.2.1;3.4.21.46;3.4.21.-;1.16.3.1;1.11.1.6;4.1.2.13;3.5.3.1;2.4.1.1;5.3.1.9;5.1.3.-;3.4.23.5;3.4.22.52;3.4.22.1;3.6.4.10;3.2.1.31;3.4.21.37;2.3.1.16;2.3.1.9;2.3.1.155;2.5.1.18;1.13.11.-;1.13.11.34;3.3.2.6;3.4.11.4;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;2.7.10.2;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;1.4.3.22;1.4.3.-;2.7.4.6;2.7.13.3;3.4.24.34;3.4.22.27;2.7.11.24;3.1.3.48;3.5.4.5;5.4.2.2;2.4.1.186;2.7.11.26;3.1.21.-;3.6.5.5;3.6.1.-;3.6.5.2;2.7.1.1;2.7.1.-;2.3.3.8;3.4.14.1;3.6.4.6;3.2.1.17;5.2.1.8;3.1.1.47;3.1.1.-;3.5.4.6;1.11.1.24;3.2.1.14;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;1.8.4.-;5.3.4.1;3.6.1.6;3.4.19.9;5.4.2.7;3.4.25.1;3.2.1.18;3.5.1.3;2.3.2.27;3.4.18.1;3.2.1.166;4.1.2.4", "go_molecular_function": "GO:0016807 cysteine-type carboxypeptidase activity;GO:0004180 carboxypeptidase activity;GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0002003 angiotensin maturation;GO:0010757 negative regulation of plasminogen activation;GO:0051603 proteolysis involved in protein catabolic process;GO:0060441 epithelial tube branching involved in lung morphogenesis", "synthesized_glycan_count": 0, "hit_score": 26.1, "record_id": "Q9UBR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBX1-1", "uniprot_id": "CATF_HUMAN", "mass": 53366.0, "length": 484, "protein_name": "Cathepsin F", "gene_name": "CTSF", "organism": "Human", "refseq_name": "cathepsin F precursor", "refseq_ac": "NP_003784", "gene_names_uniprotkb": "CTSF", "gene_names_refseq": "CATSF; CLN13; CTSF", "protein_names_uniprotkb": "Cathepsin F; 3.4.22.41; CATSF", "protein_names_refseq": "cathepsin F precursor", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); neuronal ceroid lipofuscinosis 13 (Disease Ontology:DOID:0110727)", "pathway": " (hsa:8722); (R-HSA-2132295)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10064083;10072072;10198209;10318784;10362521;10480952;10540230;10593899;10631941;10631952;10639150;10661872;10748235;10809954;11237011;11529500;11684289;11790530;11813165;11853874;12078484;12198549;12225749;12742663;12748383;14731593;15749704;15911768;16181339;16242130;16618111;16824007;17142755;17283181;17287340;18046453;18292509;19159218;19413330;1956401;19564404;21116285;2121367;21441454;2190094;22299025;23090970;23297359;2391366;24190977;25576301;25645385;27600516;28474574;29493099;29557506;29632711;29741879;30429286;30561534;31154438;31844290;31848261;32157095;32350084;32938616;33236952;33592498;33968037;34171305;35051231;35251023;35447134;35580925;36010968;37074911;7481823;7592972;7650016;7667286;8046351;8134367;8145819;8148318;8313912;8397411;8415765;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9822672", "class_list": "", "function": "Cathepsin F genetic mutation is associated with familial papillary thyroid cancer., [RefSeq, PubMed]; Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq, Jul 2008]., [RefSeq]; Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor disturbance) Kufs disease was supported by molecular diagnoses. Type A is usually caused by recessive pathogenic variants in CLN6 or dominant variants in DNAJC5. Type B Kufs is usually associated with recessive CTSF pathogenic variants., [RefSeq, PubMed]; Long noncoding RNA LINC00982 upregulates CTSF expression to inhibit gastric cancer progression via the transcription factor HEY1., [RefSeq, PubMed]; The CTSF gene may function as a tumor suppressor in gastric cancer, [RefSeq, PubMed]; Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 21, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R964;O95240;Q9NSU4;Q9UKQ5", "ec_number_list": "3.4.22.43;3.4.23.5;3.4.22.15;3.4.22.1;3.4.16.5;3.4.16.-;3.4.23.34;3.4.22.27;3.4.22.42;3.4.22.38;3.4.14.1;3.4.22.41", "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0012505 endomembrane system", "go_biological_process": "GO:0006508 proteolysis;GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II;GO:0051603 proteolysis involved in protein catabolic process;GO:0002376 immune system process", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q9UBX1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHP7-1", "uniprot_id": "CLC2D_HUMAN", "mass": 21849.0, "length": 191, "protein_name": "C-type lectin domain family 2 member D", "gene_name": "CLEC2D", "organism": "Human", "refseq_name": "C-type lectin domain family 2 member D isoform 2", "refseq_ac": "NP_001004419", "gene_names_uniprotkb": "CLEC2D; CLAX; LLT1; OCIL", "gene_names_refseq": "CLAX; CLEC2D; LLT1; OCIL", "protein_names_uniprotkb": "C-type lectin domain family 2 member D; LLT-1; Lectin-like NK cell receptor; Lectin-like transcript 1; Osteoclast inhibitory lectin", "protein_names_refseq": "C-type lectin domain family 2 member D isoform 2; C-type lectin related f; C-type lectin superfamily 2, member D; LLT-1; lectin-like NK cell receptor; lectin-like transcript 1; osteoclast inhibitory lectin", "tax_id": 9606, "disease": "", "pathway": " (hsa:29121); (R-HSA-198933)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10499918;10541800;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14753741;14970179;15034010;15104121;15123656;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;20843815;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24190977;24305946;24714562;25502872;25505266;25703557;25716998;25760607;25826155;25892735;26284469;26300885;26992070;27846572;28228285;28832583;28834231;29242379;29493099;29508533;31844290;32350084;32502341;32897882;33288556;33717175;33936100;34433824;35185935;37287972;38502058;38673902;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "glycogene", "function": "Immune checkpoint CD161/LLT1-associated immunological landscape and diagnostic value in oral squamous cell carcinoma., [RefSeq, PubMed]; LLT1 induces Interferon Type II production by natural killer cells., [RefSeq, PubMed]; LLT1-CD161 Interaction in Cancer: Promises and Challenges. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Lectin-like Transcript-1 (LLT1) Expression in Oral Squamous Cell Carcinomas: Prognostic Significance and Relationship with the Tumor Immune Microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for KLRB1 that protects target cells against natural killer cell-mediated lysis (PubMed:16339513, PubMed:20843815). Inhibits osteoclast formation (PubMed:14753741, PubMed:15123656). Inhibits bone resorption (PubMed:14753741). Modulates the release of interferon-gamma (PubMed:15104121). Binds high molecular weight sulfated glycosaminoglycans (PubMed:15123656)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of LLT1 and PCNA as Natural Killer Cell Immune Evasion Strategies of HCT 116 Cells., [RefSeq, PubMed]; SARS-CoV-2 infection impairs NK cell functions via activation of the LLT1-CD161 axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 213, "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": "D6CI39;D6CI40;D6CI41;Q6YID5;Q8WUP7;Q9HD37;Q9HD38", "ec_number_list": "", "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0050852 T cell receptor signaling pathway;GO:0051132 NK T cell activation", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q9UHP7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UI42-1", "uniprot_id": "CBPA4_HUMAN", "mass": 47351.0, "length": 421, "protein_name": "Carboxypeptidase A4", "gene_name": "CPA4", "organism": "Human", "refseq_name": "carboxypeptidase A4 isoform 2 precursor", "refseq_ac": "NP_001156918", "gene_names_uniprotkb": "CPA4; CPA3; PRO1339", "gene_names_refseq": "CPA3; CPA4", "protein_names_uniprotkb": "Carboxypeptidase A4; 3.4.17.-; Carboxypeptidase A3", "protein_names_refseq": "carboxypeptidase A3; carboxypeptidase A4 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:51200)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10.1101/2023.09.13.557529;10383164;11237011;12552318;12975309;15738388;16091843;17506531;20385563;22294694;23090970;23746805;24190977;28904123;29242379;29557506;29741879;30315122;30573663;31154438;31530632;31844290;31848261;32347291;32350084;32938616;33592498;33746592;33912179;34357683;35051231;35154160;35494241;36215666;37074911;38219533;38400818;38665916;38666696", "class_list": "", "function": "CPA4 gene is imprinted, with preferential expression from the maternal allele in many fetal tissues, but not in fetal brain., [RefSeq, PubMed]; Carboxypeptidase A4 negatively correlates with p53 expression and regulates the stemness of breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Carboxypeptidase A4 promotes cardiomyocyte hypertrophy through activating PI3K-AKT-mTOR signaling., [RefSeq, PubMed]; CircCPA4 induces ASCT2 expression to promote tumor property of non-small cell lung cancer cells in a miR-145-5p-dependent manner., [RefSeq, PubMed]; CircCPA4 induces malignant behaviors of prostate cancer via miR-491-5p/SHOC2 feedback loop. Publication Status: Online-Only, [RefSeq, PubMed]; Macrophage-Induced Carboxypeptidase A4 Promotes the Progression of Anaplastic Thyroid Cancer., [RefSeq, PubMed]; Metalloprotease that cleaves hydrophobic C-terminal residues with a preference for -Phe, -Leu, -Ile, -Met, -Tyr and -Val (PubMed:20385563). May function in peptide hormone and/or neuropeptide catabolism (PubMed:20385563)., [UniProtKB, PubMed]; The three-dimensional structure of procarboxypeptidase-A4 (hPCPA4) has been solved and shows the features of related metallocarboxypeptidase zymogens, with a preformed alpha/beta/-hydrolase active-enzyme moiety (hCPA4) and an inhibiting pro-domain (PD)., [RefSeq, PubMed]; This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. [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": 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": 5, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z576;Q86UY9", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis;GO:0042447 hormone catabolic process;GO:0043171 peptide catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9UI42-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UMR7-1", "uniprot_id": "CLC4A_HUMAN", "mass": 27512.0, "length": 237, "protein_name": "C-type lectin domain family 4 member A", "gene_name": "CLEC4A", "organism": "Human", "refseq_name": "C-type lectin domain family 4 member A isoform 1", "refseq_ac": "NP_057268", "gene_names_uniprotkb": "CLEC4A; CLECSF6; DCIR; HDCGC13P; LLIR", "gene_names_refseq": "CD367; CLEC4A; CLECSF6; DCIR; DDB27; HDCGC13P; LLIR; hDCIR", "protein_names_uniprotkb": "C-type lectin domain family 4 member A; C-type lectin DDB27; C-type lectin superfamily member 6; Dendritic cell immunoreceptor; Lectin-like immunoreceptor", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 6; C-type lectin DDB27; C-type lectin domain family 4 member A isoform 1; C-type lectin superfamily member 6; dendritic cell immunoreceptor; lectin-like immunoreceptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:50856); (R-HSA-5621480)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10438934;10508765;11110698;11178971;11237011;11606584;11994513;12945048;14656219;15489334;16541075;17050534;18258799;18490740;18776906;18818202;20530286;21536857;21880719;22041900;23053572;23507963;23602766;24239607;26429306;27015765;29146595;30001391;30683699;32350084;32415968;32983136;34817551;36323738;37266426;38532110;8598452;8972730;9042338", "class_list": "glycogene", "function": "(Microbial infection) Involved in the interaction between HIV-1 virus and dendritic cells. Enhances HIV-1 binding/entry and virus infection. Requires ITIM motif-associated signal transduction pathway involving phosphatases PTPN6 and PTPN11, SYK, Src kinases and MAP kinases., [UniProtKB, PubMed]; C-type lectin receptor that binds carbohydrates mannose and fucose but also weakly interacts with N-acetylglucosamine (GlcNAc) in a Ca(2+)-dependent manner (PubMed:27015765). Involved in regulating immune reactivity (PubMed:10438934, PubMed:18258799). Once triggered by antigen, it is internalized by clathrin-dependent endocytosis and delivers its antigenic cargo into the antigen presentation pathway resulting in cross-priming of CD8(+) T cells. This cross-presentation and cross-priming are enhanced by TLR7 and TLR8 agonists with increased expansion of the CD8(+) T cells, high production of IFNG and TNF with reduced levels of IL4, IL5 and IL13 (PubMed:18258799, PubMed:20530286). In plasmacytoid dendritic cells, inhibits TLR9-mediated IFNA and TNF production (PubMed:18258799). May be involved via its ITIM motif (immunoreceptor tyrosine-based inhibitory motifs) in the inhibition of B-cell-receptor-mediated calcium mobilization and protein tyrosine phosphorylation (PubMed:10438934)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; DCIR and its ligand asialo-biantennary N-glycan regulate DC function and osteoclastogenesis., [RefSeq, PubMed]; DCIR suppresses osteoclastic proliferation and resorption by downregulating M-CSF and RANKL signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Differential expression of immune-regulatory proteins C5AR1, CLEC4A and NLRP3 on peripheral blood mononuclear cells in early-stage non-small cell lung cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Pivotal role of the carbohydrate recognition domain in self-interaction of CLEC4A to elicit the ITIM-mediated inhibitory function in murine conventional dendritic cells in vitro., [RefSeq, PubMed]; The C-type lectin DCIR contributes to the immune response and pathogenesis of colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [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": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 272, "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": "Q17R69;Q8WXW9;Q9H2Z9;Q9NS33;Q9UI34", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005509 calcium ion binding;GO:0030246 carbohydrate binding;GO:0005537 D-mannose binding;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0036037 CD8-positive, alpha-beta T cell activation;GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I;GO:0007155 cell adhesion;GO:0007166 cell surface receptor signaling pathway;GO:0032720 negative regulation of tumor necrosis factor production", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9UMR7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y376-1", "uniprot_id": "CAB39_HUMAN", "mass": 39869.0, "length": 341, "protein_name": "Calcium-binding protein 39", "gene_name": "CAB39", "organism": "Human", "refseq_name": "calcium-binding protein 39", "refseq_ac": "NP_001124321", "gene_names_uniprotkb": "CAB39; CGI-66; MO25", "gene_names_refseq": "CAB39; CGI-66; MO25", "protein_names_uniprotkb": "Calcium-binding protein 39; MO25alpha; Protein Mo25", "protein_names_refseq": "MO25alpha; calcium-binding protein 39", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); transient cerebral ischemia (Disease Ontology:DOID:224); hepatocellular carcinoma (Disease Ontology:DOID:684); hyperthyroidism (Disease Ontology:DOID:7998)", "pathway": " (hsa:51719); (R-HSA-380972); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 87, "publication_id_list": "11018120;12805220;14511394;14517248;14614828;14730349;14985505;15579580;16943194;18439900;18991276;19892943;20068231;23650620;24366607;24397554;25418920;25576301;25892735;26154972;26811146;26992070;27543614;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30410026;30429286;30484775;30833945;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32897882;32938616;32983136;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34185709;34357683;34509645;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36241641;36284347;37726090;37938771;38649419;8549768;8692836;8779952", "class_list": "", "function": "CAB39 promotes cisplatin resistance in bladder cancer via the LKB1-AMPK-LC3 pathway., [RefSeq, PubMed]; Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1., [UniProtKB, PubMed]; MiR-451a was selectively sorted into exosomes and promoted the progression of esophageal squamous cell carcinoma through CAB39., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8L7", "ec_number_list": "", "go_molecular_function": "GO:0030295 protein kinase activator activity;GO:0019900 kinase binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0120283 protein serine/threonine kinase binding", "go_cellular_component": "GO:1902554 serine/threonine protein kinase complex;GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0071476 cellular hypotonic response;GO:1901380 negative regulation of potassium ion transmembrane transport;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0014823 response to activity", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9Y376-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3E7-1", "uniprot_id": "CHMP3_HUMAN", "mass": 25073.0, "length": 222, "protein_name": "Charged multivesicular body protein 3", "gene_name": "CHMP3", "organism": "Human", "refseq_name": "charged multivesicular body protein 3 isoform 2", "refseq_ac": "NP_001005753", "gene_names_uniprotkb": "CHMP3; CGI-149; CGI149; NEDF; VPS24", "gene_names_refseq": "CGI-149; CHMP3; NEDF; VPS24", "protein_names_uniprotkb": "Charged multivesicular body protein 3; Chromatin-modifying protein 3; Neuroendocrine differentiation factor; Vacuolar protein sorting-associated protein 24; hVps24", "protein_names_refseq": "25.1 protein; CHMP family, member 3; charged multivesicular body protein 3 isoform 2; chromatin-modifying protein 3; neuroendocrine differentiation factor; vacuolar protein sorting 24 homolog; vacuolar protein sorting-associated protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:100526767); (hsa:51652); (R-HSA-162588); (R-HSA-1632852); (R-HSA-5620971); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710); (R-HSA-9668328); (R-HSA-9679504); (R-HSA-9694676)", "pathway_count": 11, "publication_count": 147, "publication_id_list": "11096062;11549700;11563910;11825910;12878588;14505570;14519844;14624836;15075231;15187094;15218037;15331731;15473846;15632132;15707591;16371348;16533400;16554368;16730941;16740483;16897187;16963840;16973552;17081983;17146056;17261583;17331679;17547705;17618624;17711858;18076377;18321988;18395747;18439900;18452278;18669648;18687924;19211835;19322194;19525971;19527882;19590496;19640981;19651622;19690332;19855179;19859801;19898463;20059746;20068231;20713597;20921139;21177865;21205641;21238931;21258367;21383122;21406692;21460621;21543490;21757351;21799305;21819378;21827950;2204156;22170151;22682742;22762019;23186163;23202584;23266279;23305486;23481700;23685627;23727157;23884233;24715725;24747438;24954904;25135833;25484072;25568151;25576301;25961502;26040712;26040713;26375003;26508369;26992070;27281216;27383986;27418190;27600516;27862975;2799391;28045099;28242692;28392147;28459430;28832583;28834231;28904123;29177860;29242379;29493099;29539421;29557506;29786170;29891674;29898893;29990470;30143555;30315122;30429286;30513301;30833945;30976076;31113851;31154438;31231549;31844290;31848261;32109412;32157095;32188940;32357974;32367036;32387766;32488085;32820063;32897882;32938616;32983136;33298915;33537174;33592498;33968037;34087483;34171305;34509645;34932366;35051231;35580925;36010968;36284347;38038147;7628435", "class_list": "", "function": "CHMP3 promotes the progression of hepatocellular carcinoma by inhibiting caspase-1-dependent pyroptosis., [RefSeq, PubMed]; Data demonstrate that the VPS24 gene gives rise to two functionally distinct proteins, one of which is involved in the ESCRT pathway and another novel protein that serves an anti-apoptotic role., [RefSeq, PubMed]; ESCRT subunit is important for degradation of the epidermal growth factor receptor (EGFR) and for transport of the receptor from endosomes to lysosomes., [RefSeq, PubMed]; In rodents, this protein selectively binds phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4-bisphosphate and may participate in endosomal trafficking., [RefSeq, PubMed]; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Selectively binds to phosphatidylinositol 3,5-bisphosphate PtdIns(3,5)P2 and PtdIns(3,4)P2 in preference to other phosphoinositides tested. Involved in late stages of cytokinesis. Plays a role in endosomal sorting/trafficking of EGF receptor. Isoform 2 prevents stress-mediated cell death and accumulation of reactive oxygen species when expressed in yeast cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Study found the ESCRT-III proteins CHMP2A & CHMP3 could assemble in vitro into helical tubular structures that expose their membrane interaction sites on the outside of the tubule; VPS4 could bind on the inside of the tubule & disassemble the tubes, [RefSeq, PubMed]; This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]., [RefSeq]; UBPY MIT domain and another ubiquitin isopeptidase, AMSH, reveals common interactions with CHMP1A and CHMP1B but a distinct selectivity of AMSH for CHMP3/VPS24, a core subunit of the ESCRT-III complex, and UBPY for CHMP7. Erratum:[J Biol Chem. 2009 Mar 20;284(12):8207], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 16, "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": "A8K3W0;B4DG34;B8ZZM0;B8ZZX5;Q3ZTS9;Q53S71;Q53SU5;Q9NZ51", "ec_number_list": "", "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0031210 phosphatidylcholine binding;GO:1990381 ubiquitin-specific protease binding;GO:0140678 molecular function inhibitor activity;GO:0180020 membrane bending activity", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0000421 autophagosome membrane;GO:0005643 nuclear pore;GO:0005769 early endosome", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0010824 regulation of centrosome duplication;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q9Y3E7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4C5-1", "uniprot_id": "CHST2_HUMAN", "mass": 57857.0, "length": 530, "protein_name": "Carbohydrate sulfotransferase 2", "gene_name": "CHST2", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 2", "refseq_ac": "NP_004258", "gene_names_uniprotkb": "CHST2; GN6ST", "gene_names_refseq": "C6ST; CHST2; GST-2; GST2; Gn6ST-1; HEL-S-75; glcNAc6ST-1", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 2; 2.8.2.-; GST-2; Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 2; GlcNAc6ST-1; Gn6ST-1; N-acetylglucosamine 6-O-sulfotransferase 1", "protein_names_refseq": "N-acetylglucosamine 6-O-sulfotransferase 1; carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2; carbohydrate (chondroitin 6/keratan) sulfotransferase 2; carbohydrate sulfotransferase 2; epididymis secretory protein Li 75; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9435); (R-HSA-2022854)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10.1101/2023.09.13.557529;10049591;10206952;10491328;10504389;11030741;11042166;11042394;11283017;11310842;11588157;11726653;11821425;11901181;12218059;12501187;12855678;15220337;15486459;15560372;15620693;15632306;17021253;1714903;19571171;22260995;23481700;24799377;25548167;28228285;28320965;29242379;29314611;30093410;30315122;31092671;31844290;32350084;32357974;33298915;33936100;33968037;34171305;34357683;35051231;35251023;35939855;38034954;8333853;8611500;8920913;9405439;9417100;9597550;9722682", "class_list": "glycogene", "function": "A method for O-GlcNAc detection using in vitro sulfation with two N-acetylglucosamine (GlcNAc)-specific sulfotransferases, carbohydrate sulfotransferase 2 and carbohydrate sulfotransferase 4., [RefSeq, PubMed]; GlcNAc6ST1 is up-regulated in the brains of Alzheimer's disease patients., [RefSeq, PubMed]; MRNA transcript analyses on the genes involved in synthesizing GlcNAc-6-O-sulfated glycans in human colon cancer tissues indicated that GlcNAc6ST-2 (CHST4) is preferentially expressed in cancer cells ... GlcNAc6ST-3 (CHST5) was only expressed in nonmalignant epithelial cells, whereas GlcNAc6ST-1 (CHST2) was expressed equally in both cancerous and nonmalignant epithelial cells., [RefSeq, PubMed]; Report the sites at which N-Acetylglucosamine-6-sulfotransferase-1 is modified with N-linked glycans and the effects that each glycan has on enzyme activity, specificity, and localization.[N-Acetylglucosamine-6-sulfotransferase-1], [RefSeq, PubMed]; Site-selective sulfation of N-glycans by human GlcNAc-6-O-sulfotransferase 1 (CHST2) and chemoenzymatic synthesis of sulfated antibody glycoforms., [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues within keratan-like structures on N- and O-linked glycans and within O-linked mucin-type glycans (PubMed:11042394, PubMed:11726653, PubMed:35939855, PubMed:38034954, PubMed:9722682). Selectively transfers the sulfate group onto the terminal GlcNAc of alpha1,3-Man or alpha1,6-Man antenna of complex-type N-glycans depending on glycan composition. Only sulfates terminal GlcNAc of alpha1,3-Man antenna of G0 complex-type N-glycans. Can sulfate keratan-type N-acetyllactosamine (LacNAc) repeats generating epitopes for self versus non-self immune recognition by C-type lectins (PubMed:35939855, PubMed:38034954). Transfers the sulfate group primarily on core 2 GlcNAcbeta1-6(Galbeta1-3)GalNAcalpha-Ser/Thr and with lower efficiency on extended core 1 GlcNAcbeta1-3Galbeta1-3GalNAcalpha-Ser/Thr based O-linked glycans on peripheral node addressins (PNAds) expressed on the lumenal side of high endothelial venules (HEVs). Shares substrate specificity with CHST4 and both contribute to generate sialyl 6-sulfo Lewis X determinant (also known as MECA-79 epitope) for SELL recognition, a prerequisite for continuous lymphocyte homing into peripheral lymph nodes and antigen immune surveillance (By similarity) (PubMed:9722682). Has no activity toward alpha-linked GlcNAc moiety exposed at the non-reducing ends or to internally located GlcNAc residues (PubMed:11042394)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 743, "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": "D3DNG5;Q2M370;Q9GZN5;Q9UED5;Q9Y6F2", "ec_number_list": "2.8.2.17;2.8.2.21;2.8.2.-", "go_molecular_function": "GO:0001517 N-acetylglucosamine 6-O-sulfotransferase activity;GO:0008146 sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:1903238 positive regulation of leukocyte tethering or rolling;GO:0006954 inflammatory response;GO:0005975 carbohydrate metabolic process;GO:0006790 sulfur compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9Y4C5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B6V3-1", "uniprot_id": "A0A075B6V3_HUMAN", "mass": 2278.0, "length": 21, "protein_name": "T cell receptor alpha joining 48", "gene_name": "TRAJ48", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRAJ48", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 48", "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": "A0A075B6V3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GV03-1", "uniprot_id": "GG6L7_HUMAN", "mass": 75583.0, "length": 622, "protein_name": "Golgin subfamily A member 6-like protein 7", "gene_name": "GOLGA6L7", "organism": "Human", "refseq_name": "golgin subfamily A member 6-like protein 7", "refseq_ac": "NP_001352300", "gene_names_uniprotkb": "GOLGA6L7", "gene_names_refseq": "GOLGA6L7P; GOLGA6L7", "protein_names_uniprotkb": "Golgin subfamily A member 6-like protein 7", "protein_names_refseq": "golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene); golgin A6 family-like 7, pseudogene; golgin A6 family-like 9 pseudogene; golgin subfamily A member 6-like protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:728310)", "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:0005801 cis-Golgi network", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1B0GV03-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GW64-1", "uniprot_id": "SIM33_HUMAN", "mass": 14123.0, "length": 132, "protein_name": "Small integral membrane protein 33", "gene_name": "SMIM33", "organism": "Human", "refseq_name": "small integral membrane protein 33", "refseq_ac": "NP_001352126", "gene_names_uniprotkb": "SMIM33", "gene_names_refseq": "SMIM33", "protein_names_uniprotkb": "Small integral membrane protein 33", "protein_names_refseq": "small integral membrane protein 33", "tax_id": 9606, "disease": "", "pathway": " (hsa:111064649)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "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": 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": "", "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": "A0A1B0GW64-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B6W4-1", "uniprot_id": "A0A075B6W4_HUMAN", "mass": 2231.0, "length": 21, "protein_name": "T cell receptor alpha joining 46", "gene_name": "TRAJ46", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRAJ46", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 46", "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": "A0A075B6W4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IXT5-1", "uniprot_id": "RB12B_HUMAN", "mass": 118103.0, "length": 1001, "protein_name": "RNA-binding protein 12B", "gene_name": "RBM12B", "organism": "Human", "refseq_name": "RNA-binding protein 12B", "refseq_ac": "NP_976324", "gene_names_uniprotkb": "RBM12B", "gene_names_refseq": "MGC:33837; RBM12B", "protein_names_uniprotkb": "RNA-binding protein 12B; RNA-binding motif protein 12B", "protein_names_refseq": "RNA-binding protein 12B", "tax_id": 9606, "disease": "", "pathway": " (hsa:389677)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17081983;18077418;18452278;18669648;18767875;19608861;19651622;19691289;20068231;21406692;23186163;23301498;23481700;24275569;25218447;25755297;25772364;25880248;26154972;26992070;27846572;27862975;28228285;28510447;28904123;29557506;30379171;30429286;31092671;31154438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34405274;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347;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": 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": 21, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MYB5", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q8IXT5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15162-1", "uniprot_id": "PLS1_HUMAN", "mass": 35049.0, "length": 318, "protein_name": "Phospholipid scramblase 1", "gene_name": "PLSCR1", "organism": "Human", "refseq_name": "phospholipid scramblase 1 isoform 1", "refseq_ac": "NP_066928", "gene_names_uniprotkb": "PLSCR1", "gene_names_refseq": "MMTRA1B; PLSCR1", "protein_names_uniprotkb": "Phospholipid scramblase 1; 3.1.-.-; Ca(2+)-dependent phospholipid scramblase 1; Erythrocyte phospholipid scramblase; Mg(2+)-dependent nuclease; MmTRA1b; PL scramblase 1", "protein_names_refseq": "PL scramblase 1; ca(2+)-dependent phospholipid scramblase 1; erythrocyte phospholipid scramblase; mg(2+)-dependent nuclease; phospholipid scramblase 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5359)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "10770950;10930526;11237011;11390389;12564925;12871937;15308695;15611084;16091359;17567603;18629440;21806988;22052202;22789739;23501106;23590222;23659204;24343571;24648509;25365352;25502872;25576301;25880248;26745724;26758079;27206388;29242379;29352288;29485866;29557506;29748552;30192525;31434743;31611695;31844290;32110987;32292520;32350084;32357974;32387766;32488085;32938616;33141586;33592498;33912179;33968037;34087483;34171305;34357683;34433824;34509645;35051231;35138119;35154160;35439477;35580925;35595813;36010968;36260146;37438530;38636689;38866522;40914422;8663431;9218461;9485382;9572851;9712717", "class_list": "", "function": "(Microbial infection) Acts as an attachment receptor for HCV., [UniProtKB, PubMed]; Biophysical characterization of the DNA binding motif of human phospholipid scramblase 1., [RefSeq, PubMed]; Catalyzes calcium-induced ATP-independent rapid bidirectional and non-specific movement of phospholipids (lipid scrambling or lipid flip-flop) between the inner and outer leaflet of the plasma membrane resulting in collapse of the phospholipid asymmetry which leads to phosphatidylserine externalization on the cell surface (PubMed:10770950, PubMed:18629440, PubMed:23590222, PubMed:23659204, PubMed:24343571, PubMed:24648509, PubMed:29748552, PubMed:32110987, PubMed:8663431, PubMed:9218461, PubMed:9485382, PubMed:9572851). Mediates calcium-dependent phosphatidylserine externalization and apoptosis in neurons via its association with TRPC5 (By similarity). Also exhibits magnesium-dependent nuclease activity against double-stranded DNA and RNA but not single-stranded DNA and can enhance DNA decatenation mediated by TOP2A (PubMed:17567603, PubMed:27206388). Negatively regulates FcR-mediated phagocytosis in differentiated macrophages (PubMed:26745724). May contribute to cytokine-regulated cell proliferation and differentiation (By similarity). May play a role in the antiviral response of interferon (IFN) by amplifying and enhancing the IFN response through increased expression of select subset of potent antiviral genes (PubMed:15308695). Inhibits the functions of viral transactivators, including human T-cell leukemia virus (HTLV)-1 protein Tax, human immunodeficiency virus (HIV)-1 Tat, human hepatitis B virus (HBV) HBx, Epstein-Barr virus (EBV) BZLF1 and human cytomegalovirus IE1 and IE2 proteins through direct interactions (PubMed:22789739, PubMed:23501106, PubMed:25365352, PubMed:31434743, PubMed:35138119). Also mediates the inhibition of influenza virus infection by preventing nuclear import of the viral nucleoprotein/NP (PubMed:29352288, PubMed:35595813). Plays a crucial role as a defense factor against SARS-CoV-2 independently of its scramblase activity by directly targeting nascent viral vesicles to prevent virus-membrane fusion and the release of viral RNA into the host-cell cytosol (PubMed:37438530)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interaction of human phospholipid scramblase 1 with cholesterol via CRAC motif is essential for functional regulation and subcellular localization., [RefSeq, PubMed]; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PLSCR1 is a cell-autonomous defence factor against SARS-CoV-2 infection., [RefSeq, PubMed]; Phospholipid Scramblase 1 Localizes Proximal to Sphingomyelin Synthase Isoforms but Is Not Involved in Sphingomyelin Synthesis., [RefSeq, PubMed]; Phospholipid scramblase 1 acts through the IL-6/JAK/STAT3 pathway to promote the malignant progression of glioma., [RefSeq, PubMed]; This gene encodes a phospholipid scramblase family member. The encoded protein is involved in disruption of the asymmetrical distribution of phospholipids between the inner and outer leaflets of the plasma membrane, resulting in externalization of phosphatidylserine. This cell membrane disruption plays an important role in the blood coagulation cascade as well as macrophage clearing of apoptotic cells. The encoded protein has additionally been implicated in gene regulation and interferon-induced antiviral responses. [provided by RefSeq, May 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": 8, "reported_mutagensis": 15, "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": "B2R8H8;B4DTE8", "ec_number_list": "3.1.-.-;1.6.5.5", "go_molecular_function": "GO:0032791 lead ion binding;GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:1905820 positive regulation of chromosome separation;GO:2000373 positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity;GO:0060368 regulation of Fc receptor mediated stimulatory signaling pathway;GO:0010288 response to lead ion;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "O15162-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15118-1", "uniprot_id": "NPC1_HUMAN", "mass": 142167.0, "length": 1278, "protein_name": "NPC intracellular cholesterol transporter 1", "gene_name": "NPC1", "organism": "Human", "refseq_name": "NPC intracellular cholesterol transporter 1 precursor", "refseq_ac": "NP_000262", "gene_names_uniprotkb": "NPC1", "gene_names_refseq": "NPC1; NPC; POGZ; SLC65A1", "protein_names_uniprotkb": "NPC intracellular cholesterol transporter 1; Niemann-Pick C1 protein", "protein_names_refseq": "NPC intracellular cholesterol transporter 1 precursor; Niemann-Pick C1 protein", "tax_id": 9606, "disease": "Niemann-Pick disease type C1 (Disease Ontology:DOID:0070113); Niemann-Pick disease (Disease Ontology:DOID:14504)", "pathway": " (hsa:4864); (R-HSA-8964038)", "pathway_count": 2, "publication_count": 143, "publication_id_list": "10.1101/2023.09.13.557529;10224102;10425213;10438503;10480349;10521290;10521297;10821832;11182931;11237011;11333381;11349231;11479732;11545687;11584272;11754101;12221107;12401890;12408188;12464675;12554680;12955717;15166224;15265030;15774455;16098014;16126423;16179341;16802107;17018531;1718995;17452316;17897319;18644789;18772377;18782767;18832164;19141679;19159218;19196236;19563754;19583955;19592704;20068231;20674853;20947831;21412152;21866103;221835;22764087;23453666;24190977;24366607;24715725;24868095;25502872;25699256;25855742;25880248;25915661;26474739;26771495;26846330;26992070;27090790;2722848;27238017;27378690;27397612;27551080;27846572;28336668;28467828;28510447;28784760;28904123;29557506;29741879;30315122;30484775;30573663;30779550;30833945;31154438;31222486;31530632;31537798;31844290;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32855215;32897882;32938616;32983136;33214551;33298915;33592498;33717175;33866776;33912179;33968037;33981976;34019948;34087483;34171305;34357683;34433824;34725712;34799735;34932366;35051231;35138101;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37074911;37340703;37507375;37938771;37989569;38042211;38665916;39231976;8049197;8112342;8146180;8407899;9211849;9634529;9705237;9756920;9927649", "class_list": "", "function": "(Microbial infection) Acts as an endosomal entry receptor for ebolavirus., [UniProtKB, PubMed, PubMed, PubMed]; EXTL3 and NPC1 are mammalian host factors for Autographa californica multiple nucleopolyhedrovirus infection. Publication Status: Online-Only, [RefSeq, PubMed]; Familial Alzheimer's disease associated with heterozygous NPC1 mutation. Publication Status: Online-Only, [RefSeq, PubMed]; Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment (PubMed:10821832, PubMed:12554680, PubMed:18772377, PubMed:27238017, PubMed:9211849, PubMed:9927649). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:18772377, PubMed:19563754, PubMed:27238017, PubMed:27378690, PubMed:28784760, PubMed:9211849, PubMed:9927649). Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket (PubMed:19563754). Mediates cholesterol transfer from lysosomes to endoplasmic reticulum by tethering endosomal/lysosomal compartments and endoplasmic reticulum membrane contact sites where it interacts with sterol transport protein GRAMD1B (PubMed:31537798). Binds oxysterol with higher affinity than cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals (Probable). Inhibits cholesterol-mediated mTORC1 activation throught its interaction with SLC38A9 (PubMed:28336668)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NPC1 promotes autophagy with tumor promotion and acts as a prognostic model for hepatocellular carcinoma., [RefSeq, PubMed]; NPC1-dependent alterations in KV2.1-CaV1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 23, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 12, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 23, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 23, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 40, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 34, "disease_count": 2, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "B4DET3;Q9P130", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0015485 cholesterol binding;GO:0001618 virus receptor activity;GO:0038023 signaling receptor activity;GO:0120020 cholesterol transfer activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0031579 membrane raft organization;GO:1904036 negative regulation of epithelial cell apoptotic process;GO:0008203 cholesterol metabolic process;GO:0009101 glycoprotein biosynthetic process;GO:0030299 intestinal cholesterol absorption", "synthesized_glycan_count": 0, "hit_score": 20.2, "record_id": "O15118-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P22307-1", "uniprot_id": "SCP2_HUMAN", "mass": 58994.0, "length": 547, "protein_name": "Sterol carrier protein 2", "gene_name": "SCP2", "organism": "Human", "refseq_name": "sterol carrier protein 2 isoform 2", "refseq_ac": "NP_001007099", "gene_names_uniprotkb": "SCP2", "gene_names_refseq": "NLTP; NSL-TP; SCOX; SCP-2; SCP-CHI; SCP-X; SCP2; SCPX; nsLTP", "protein_names_uniprotkb": "Sterol carrier protein 2; 2.3.1.155; 2.3.1.16; 2.3.1.176; Acetyl-CoA C-myristoyltransferase; NSL-TP; Non-specific lipid-transfer protein; Propanoyl-CoA C-acyltransferase; SCP-2/3-oxoacyl-CoA thiolase; SCP-2/thiolase; SCP-2; SCP-X; SCP-chi; SCPX; Sterol carrier protein X", "protein_names_refseq": "SCP-2/3-oxoacyl-CoA thiolase; SCP-2/thiolase; acetyl-CoA C-myristoyltransferase; epididymis secretory sperm binding protein; non-specific lipid-transfer protein; propanoyl-CoA C-acyltransferase; sterol carrier protein 2 isoform 2; sterol carrier protein X; straight-chain acyl-CoA oxidase", "tax_id": 9606, "disease": "Zellweger syndrome (Disease Ontology:DOID:905); obesity (Disease Ontology:DOID:9970); sterol carrier protein 2 deficiency (MONDO:MONDO:0013391)", "pathway": " (hsa:6342); (R-HSA-2046106); (R-HSA-9033241); (R-HSA-9033500)", "pathway_count": 4, "publication_count": 173, "publication_id_list": "10022913;10562279;10601301;10673331;10706581;10899997;11101887;11237011;11500517;11546814;11734571;11781871;11931631;11988075;12323085;12323090;12456682;12559034;12562861;12578380;12713571;12716664;12717447;12885776;12897190;1346092;14563822;14636670;1483685;15545321;15858711;16685654;16766224;16854980;16959974;17007944;1703300;17157249;1718316;17726030;18083107;1834642;18359941;18538142;18712838;19056654;19197237;19208625;19413330;19584060;19608861;19615748;19632994;20178365;21554508;21976670;21980954;22002062;22057399;22371489;22645359;22747494;23963456;24235149;24616531;24715725;24865970;25016021;25538232;25576301;25645385;25810538;25854684;26024233;26086376;26138649;26154972;26220973;26344566;26375851;26992070;27452731;27543614;27597759;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28521612;28611990;28649982;28765278;28787099;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30429286;30484775;30573663;30779550;31154438;31217245;31407919;31844290;31848261;31998317;32157095;32161166;32350084;32387766;32488085;32897882;32938616;32983136;33043033;33123756;33592498;33717175;33936100;33968037;33981976;34171305;34185709;34541823;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38665916;7061494;7642518;7698762;7719337;7790377;8096621;8243660;8300590;8656081;8824437;8832760;8858165;8991089;9089413;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "LINC00261 elevation inhibits angiogenesis and cell cycle progression of pancreatic cancer cells by upregulating SCP2 via targeting FOXP3., [RefSeq, PubMed]; Mediates the transfer of all common phospholipids, cholesterol and gangliosides from the endoplasmic reticulum to the plasma membrane. May play a role in regulating steroidogenesis (PubMed:17157249, PubMed:7642518, PubMed:8300590). Stimulates the microsomal conversion of 7-dehydrocholesterol to cholesterol (By similarity). Also binds fatty acids and fatty acyl Coenzyme A (CoA) such as phytanoyl-CoA. Involved in the regulation phospholipid synthesis in endoplasmic reticulum enhancing the incorporation of exogenous fatty acid into glycerides. Seems to stimulate the rate-limiting step in phosphatidic acid formation mediated by GPAT3. Isoforms SCP2 and SCPx cooperate in peroxisomal oxidation of certain naturally occurring tetramethyl-branched fatty acyl-CoAs (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Methylation dependent microRNA 1285-5p and sterol carrier proteins 2 in type 2 diabetes mellitus, [RefSeq, PubMed]; Plays a crucial role in the peroxisomal oxidation of branched-chain fatty acids (PubMed:10706581). Catalyzes the last step of the peroxisomal beta-oxidation of branched chain fatty acids and the side chain of the bile acid intermediates di- and trihydroxycoprostanic acids (DHCA and THCA) (PubMed:10706581). Also active with medium and long straight chain 3-oxoacyl-CoAs. Stimulates the microsomal conversion of 7-dehydrocholesterol to cholesterol and transfers phosphatidylcholine and 7-dehydrocholesterol between membrances, in vitro (By similarity). Isoforms SCP2 and SCPx cooperate in peroxisomal oxidation of certain naturally occurring tetramethyl-branched fatty acyl-CoAs (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; SCP2 in the cellular defense against oxidative damage and found that a fluorescent fatty acid analog bound to SCP2 is protected against H2O2/Cu2+-induced oxidative damage, [RefSeq, PubMed]; This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[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": 6, "reported_mutagensis": 3, "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": "A6NM69;B4DGJ9;B4DHP6;C9JC79;D3DQ37;E1B6W5;F2Z3J1;Q15432;Q16622;Q5VVZ1;Q6NXF4;Q99430", "ec_number_list": "3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;2.3.2.27;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;3.1.2.-;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:0033814 propanoyl-CoA C-acyltransferase activity;GO:0050632 propionyl-CoA C2-trimethyltridecanoyltransferase activity;GO:0070538 oleic acid binding;GO:0005102 signaling receptor binding;GO:0015485 cholesterol binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0032385 positive regulation of intracellular cholesterol transport;GO:0032959 inositol trisphosphate biosynthetic process;GO:0045940 positive regulation of steroid metabolic process;GO:1901373 lipid hydroperoxide transport;GO:0006635 fatty acid beta-oxidation", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "P22307-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96FA3-1", "uniprot_id": "PELI1_HUMAN", "mass": 46286.0, "length": 418, "protein_name": "E3 ubiquitin-protein ligase pellino homolog 1", "gene_name": "PELI1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase pellino homolog 1", "refseq_ac": "NP_065702", "gene_names_uniprotkb": "PELI1; PRISM", "gene_names_refseq": "PELI1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase pellino homolog 1; 2.3.2.27; Pellino-1; Pellino-related intracellular-signaling molecule; RING-type E3 ubiquitin transferase pellino homolog 1", "protein_names_refseq": "E3 ubiquitin-protein ligase pellino homolog 1; RING-type E3 ubiquitin transferase pellino homolog 1; pellino-1; pellino-related intracellular-signaling molecule; protein pellino homolog 1", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:57162); (R-HSA-5675482); (R-HSA-9020702); (R-HSA-937039); (R-HSA-975144)", "pathway_count": 5, "publication_count": 116, "publication_id_list": "10075690;10514433;10702308;10854325;10882101;10918611;11094434;11132151;11306823;11960013;12496252;12538665;12791687;12804775;12860405;14625308;15917247;16282325;16547522;16884718;16951688;17135271;17141195;17507369;17644308;17675297;17890055;17997719;18070982;18180283;1828071;1833184;18347055;18438411;18570872;18724939;19022706;19264966;19903815;21120624;21204785;2139180;2147937;21737330;22645359;23783831;25418920;25852146;25996294;26154972;26375851;26758079;26775703;26866270;26900751;26933192;26992070;27466718;27920218;28218747;28228285;28649982;28661484;28832583;28834231;28904123;29242379;29437277;2946959;29557506;29632711;29883609;29883610;29930286;30429286;30770249;30952868;31031142;31138766;31154438;31358971;31844290;32357974;32387766;32983136;33215753;33392160;33691108;33912179;33936100;33968037;33981976;34706239;34932366;34999730;35051231;35154160;35580925;36010968;36284347;36520055;37657587;38528516;38580196;38685520;7628694;8327496;8332913;8599092;8837778;9346484;9371760;9430229;9859996;9990852;9990853", "class_list": "", "function": "Aberrant expression of PELI1 caused by Jagged1 accelerates the malignant phenotype of pancreatic cancer., [RefSeq, PubMed]; Cardiomyocyte-specific Peli1 contributes to the pressure overload-induced cardiac fibrosis through miR-494-3p-dependent exosomal communication. Erratum:[FASEB J. 2023 Apr;37(4):e22860. doi: 10.1096/fsb2.22860. PMID: 36917079], [RefSeq, PubMed]; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:12496252, PubMed:17675297, PubMed:29883609, PubMed:30952868). Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6 (PubMed:12496252, PubMed:17675297). Acts as a positive regulator of inflammatory response in microglia through activation of NF-kappa-B and MAP kinase (By similarity). Mediates 'Lys-63'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation (PubMed:12496252, PubMed:17675297). Conjugates 'Lys-63'-linked ubiquitin chains to the adapter protein ASC/PYCARD, which in turn is crucial for NLRP3 inflammasome activation (PubMed:34706239). Mediates 'Lys-48'-linked polyubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation; preferentially recognizes and mediates the degradation of the 'Thr-182' phosphorylated form of RIPK3 (PubMed:29883609). Negatively regulates necroptosis by reducing RIPK3 expression (PubMed:29883609). Mediates 'Lys-63'-linked ubiquitination of RIPK1 (PubMed:29883609). Following phosphorylation by ATM, catalyzes 'Lys-63'-linked ubiquitination of NBN, promoting DNA repair via homologous recombination (PubMed:30952868). Negatively regulates activation of the metabolic mTORC1 signaling pathway by mediating 'Lys-63'-linked ubiquitination of mTORC1-inhibitory protein TSC1 and thereby promoting TSC1/TSC2 complex stability (PubMed:33215753)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; PELI1 overexpression contributes to pancreatic cancer progression through upregulating ubiquitination-mediated INPP5J degradation., [RefSeq, PubMed]; PELI1: key players in the oncogenic characteristics of pancreatic Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Pellino1 orchestrates gut-kidney axis to perpetuate septic acute kidney injury through activation of STING pathway and NLRP3 inflammasome., [RefSeq, PubMed]; Role in interleukin-1-mediated signalling through interaction with interleukin-1 receptor-associated kinase 4-IRAK-tumor necrosis factor receptor-associated factor 6 complex, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 17, "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": "Q96SM0;Q9GZY5;Q9HCX0", "ec_number_list": "2.7.11.1;2.3.2.23;2.3.2.27", "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity;GO:0034450 ubiquitin-ubiquitin ligase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0035861 site of double-strand break", "go_biological_process": "GO:0006281 DNA repair;GO:0032496 response to lipopolysaccharide;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q96FA3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P22695-1", "uniprot_id": "QCR2_HUMAN", "mass": 48443.0, "length": 453, "protein_name": "Cytochrome b-c1 complex subunit 2, mitochondrial", "gene_name": "UQCRC2", "organism": "Human", "refseq_name": "cytochrome b-c1 complex subunit 2, mitochondrial precursor", "refseq_ac": "NP_003357", "gene_names_uniprotkb": "UQCRC2", "gene_names_refseq": "MC3DN5; QCR2; UQCR2; UQCRC2", "protein_names_uniprotkb": "Cytochrome b-c1 complex subunit 2, mitochondrial; Complex III subunit 2; Core protein II; Ubiquinol-cytochrome-c reductase complex core protein 2", "protein_names_refseq": "complex III subunit 2; cytochrome b-c1 complex subunit 2, mitochondrial precursor; cytochrome b-c1 complex subunit 2, mitochondrial; cytochrome bc-1 complex core protein II; ubiquinol-cytochrome c reductase core protein II; ubiquinol-cytochrome-c reductase complex core protein 2", "tax_id": 9606, "disease": "chromosome 16p12.1 deletion syndrome (Disease Ontology:DOID:0060399); mitochondrial complex III deficiency nuclear type 5 (Disease Ontology:DOID:0080114)", "pathway": " (hsa:7385); (R-HSA-611105); (R-HSA-9837999); (R-HSA-9865881)", "pathway_count": 4, "publication_count": 152, "publication_id_list": "10.1101/2023.09.13.557529;10327278;11237011;11695836;11923310;12198491;12231006;12837546;1327877;14623864;14741580;15250827;15522782;15870080;16115876;16230336;16959974;17033964;17101804;17297443;17579211;186667;19841671;20068231;21278747;22262461;22645359;22710082;23150584;23168492;23201127;23270816;23271734;23281071;23564345;23747254;23931759;239860;24315374;24366607;24385928;24520911;24714562;24715725;25008109;25418920;2547763;25564869;25576301;25605331;25810538;25880248;26154972;26375851;26504172;26923599;26929215;26992070;27452731;27496948;27600516;27642048;27846572;27862975;27920218;28063628;28218747;28228285;28377575;28380382;28396416;28514659;28673544;28832583;28834231;28844695;28904123;29242379;29243944;29301859;29351928;29393594;29437277;29493099;29557506;29632046;29632711;29786170;29789417;29932645;30120231;30315122;30429286;30484775;30779550;30833945;31154438;31217245;31327635;31530632;31536960;31695197;31844290;31937595;31998317;32157095;32161166;32265295;32357974;32488085;32502341;32929120;32938616;32983136;33043033;33141586;33257573;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34171305;34211107;34357683;34561969;34704252;34725712;34943861;34969438;35051231;35083852;35580925;35870450;36010968;36241641;36284347;36509339;36629048;37074911;37938771;38665916;39990658;40596516;40914422;4288886;7623837;9878551", "class_list": "", "function": "Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c (By similarity). The 2 core subunits UQCRC1/QCR1 and UQCRC2/QCR2 are homologous to the 2 mitochondrial-processing peptidase (MPP) subunits beta-MPP and alpha-MPP respectively, and they seem to have preserved their MPP processing properties (By similarity). May be involved in the in situ processing of UQCRFS1 into the mature Rieske protein and its mitochondrial targeting sequence (MTS)/subunit 9 when incorporated into complex III (Probable)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]., [RefSeq]; UQCRC2-related mitochondrial complex III deficiency, about 7 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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KSN4;Q9BQ05", "ec_number_list": "", "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045275 respiratory chain complex III;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0006119 oxidative phosphorylation;GO:0009060 aerobic respiration;GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "P22695-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q05655-1", "uniprot_id": "KPCD_HUMAN", "mass": 77505.0, "length": 676, "protein_name": "Protein kinase C delta type", "gene_name": "PRKCD", "organism": "Human", "refseq_name": "protein kinase C delta type isoform c", "refseq_ac": "NP_001303256", "gene_names_uniprotkb": "PRKCD; PKCD", "gene_names_refseq": "ALPS3; CVID9; MAY1; PKCD; PRKCD; nPKC-delta", "protein_names_uniprotkb": "Protein kinase C delta type; 2.7.10.2; 2.7.11.13; SDK1; Sphingosine-dependent protein kinase-1; Tyrosine-protein kinase PRKCD; nPKC-delta", "protein_names_refseq": "protein kinase C delta VIII; protein kinase C delta type isoform c; protein kinase C delta type; tyrosine-protein kinase PRKCD", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); muscular disease (Disease Ontology:DOID:0080000); autoimmune lymphoproliferative syndrome type 3 (Disease Ontology:DOID:0110119); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); hyperinsulinism (Disease Ontology:DOID:2018); brain ischemia (Disease Ontology:DOID:2316); restrictive cardiomyopathy (Disease Ontology:DOID:397); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5580); (R-HSA-111465); (R-HSA-111933); (R-HSA-114508); (R-HSA-1250196); (R-HSA-1489509); (R-HSA-2029485); (R-HSA-418597); (R-HSA-450520); (R-HSA-5218921); (R-HSA-5607764); (R-HSA-5668599); (R-HSA-6798695); (R-HSA-877300); (R-HSA-9755511)", "pathway_count": 15, "publication_count": 398, "publication_id_list": "10067896;10072071;10187770;10200466;10224668;10329716;10400704;10421574;10453075;10455184;10490026;10579907;10713049;10779524;10802064;10882101;10945993;10954748;10986460;11018049;11042191;11053425;11057907;11080611;11090627;11090634;11106668;11145705;11237011;11262391;11278797;11313909;11313965;11325957;11381116;11387210;11413485;11425868;11432829;11460167;11463840;11600407;11606584;11739733;11741893;11748588;11749377;11772397;11781095;11805119;11834731;11877440;11927579;11972023;12024011;12040185;12052829;12056906;12107159;12120503;12198130;12391145;12438563;12446674;12473183;12628935;12649167;12660731;12668660;12700136;12716910;12776187;12840507;12869549;12915721;1347957;1396683;14514672;14517290;14530365;14532121;14585973;14586410;14688281;14722222;14764894;14981256;1508672;15105418;15125833;15143187;15161916;15257295;15294978;15302935;15322115;15327770;15388922;15530433;15536084;15591124;15731106;15774464;15809313;15824103;15845454;15851033;15879121;15951850;15983046;16123041;16237089;16286508;16329988;16341139;16359182;16467876;16484227;16489124;16497229;16497976;16505477;16507994;1660188;16636067;16678913;16762923;16778989;16861033;16923326;16940418;16962933;16983089;17016520;17047224;17125875;17126298;17135271;17158449;17178712;17297457;17303575;17322306;17389395;17392515;17512459;17517897;17569658;17570831;17579121;17583407;17590538;17603046;17956904;17965192;17979524;18083107;18088087;18092819;18238777;18273910;18285462;18347018;18362138;18387943;18434324;18434541;18452278;18577758;18591661;18669648;18691976;18721752;19015273;19033211;19130553;19359218;19366211;19369195;19372727;1939224;19413330;19587372;19651622;19664995;19690332;19801500;19934406;20002545;20038579;20049711;20058876;20068231;20086103;20130243;20166139;20190138;20193029;20300203;20304997;20363976;20378532;20452972;20495340;20538596;20807769;20813901;20956805;21103796;21220506;21239714;21376233;21391649;21406692;21525931;21734707;2175712;21810427;21865164;21966355;22069318;22265677;22789539;22808130;22872865;22918451;23061660;23186163;23274085;23289851;23319571;23481700;23650620;23783831;23846654;23875749;23980663;24011591;24074955;24275569;24298019;24366607;24417533;24556848;24569990;24714562;25040165;25418920;25472878;25576301;25645385;25793262;25877926;25892735;25921531;26117325;26154972;26375851;26583321;26728094;26811146;26942676;26992070;27158772;27543614;27558335;27600516;27846572;27920218;28063628;28228285;28237688;28380357;28428613;28502923;28832583;28834231;28904123;29233872;29242379;29314611;29317506;29393594;29450944;29493099;29508533;29526543;29557506;29632046;29632711;29769354;29786170;29789417;29860841;30429286;30610225;31217245;31546975;31585731;31844290;32157095;32284348;32293500;32350084;32387766;32488085;32502341;32640524;32672401;32897882;32938616;32983136;33009401;33239784;33298915;33592498;33691108;33717175;33791708;33859744;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36241641;36284347;37894811;38128308;38134280;38347536;38938161;7499357;7510216;7514165;7517665;7530745;7559455;7575560;7595566;7612269;7615558;7617032;7657660;7673114;7690989;7796299;7929214;7937899;7988719;8036006;8089108;8101647;8156998;8176225;8228618;8357834;8483949;8530158;8530511;8550631;8617750;8631301;8657103;8665853;8692836;8910504;8972730;8976194;9111318;9143706;9218480;9232641;9252332;9305920;9325343;9427282;9431985;9601053;9748166;9753452;9804763;9889098;9930701;9973322;9973503", "class_list": "", "function": "Activated PRKCD-mediated neutrophil extracellular traps pathway may be the prothrombotic mechanism of neutrophils in polycythemia vera patients based on clinical retrospective analysis and bioinformatics study., [RefSeq, PubMed]; Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but acting as an anti-apoptotic protein during cytokine receptor-initiated cell death, is involved in tumor suppression as well as survival of several cancers, is required for oxygen radical production by NADPH oxidase and acts as positive or negative regulator in platelet functional responses (PubMed:21406692, PubMed:21810427). Negatively regulates B cell proliferation and also has an important function in self-antigen induced B cell tolerance induction (By similarity). Upon DNA damage, activates the promoter of the death-promoting transcription factor BCLAF1/Btf to trigger BCLAF1-mediated p53/TP53 gene transcription and apoptosis (PubMed:21406692, PubMed:21810427). In response to oxidative stress, interact with and activate CHUK/IKKA in the nucleus, causing the phosphorylation of p53/TP53 (PubMed:21406692, PubMed:21810427). In the case of ER stress or DNA damage-induced apoptosis, can form a complex with the tyrosine-protein kinase ABL1 which trigger apoptosis independently of p53/TP53 (PubMed:21406692, PubMed:21810427). In cytosol can trigger apoptosis by activating MAPK11 or MAPK14, inhibiting AKT1 and decreasing the level of X-linked inhibitor of apoptosis protein (XIAP), whereas in nucleus induces apoptosis via the activation of MAPK8 or MAPK9. Upon ionizing radiation treatment, is required for the activation of the apoptosis regulators BAX and BAK, which trigger the mitochondrial cell death pathway. Can phosphorylate MCL1 and target it for degradation which is sufficient to trigger for BAX activation and apoptosis. Is required for the control of cell cycle progression both at G1/S and G2/M phases. Mediates phorbol 12-myristate 13-acetate (PMA)-induced inhibition of cell cycle progression at G1/S phase by up-regulating the CDK inhibitor CDKN1A/p21 and inhibiting the cyclin CCNA2 promoter activity. In response to UV irradiation can phosphorylate CDK1, which is important for the G2/M DNA damage checkpoint activation (By similarity). Can protect glioma cells from the apoptosis induced by TNFSF10/TRAIL, probably by inducing increased phosphorylation and subsequent activation of AKT1 (PubMed:15774464). Is highly expressed in a number of cancer cells and promotes cell survival and resistance against chemotherapeutic drugs by inducing cyclin D1 (CCND1) and hyperphosphorylation of RB1, and via several pro-survival pathways, including NF-kappa-B, AKT1 and MAPK1/3 (ERK1/2). Involved in antifungal immunity by mediating phosphorylation and activation of CARD9 downstream of C-type lectin receptors activation, promoting interaction between CARD9 and BCL10, followed by activation of NF-kappa-B and MAP kinase p38 pathways (By similarity). Can also act as tumor suppressor upon mitogenic stimulation with PMA or TPA. In N-formyl-methionyl-leucyl-phenylalanine (fMLP)-treated cells, is required for NCF1 (p47-phox) phosphorylation and activation of NADPH oxidase activity, and regulates TNF-elicited superoxide anion production in neutrophils, by direct phosphorylation and activation of NCF1 or indirectly through MAPK1/3 (ERK1/2) signaling pathways (PubMed:19801500). May also play a role in the regulation of NADPH oxidase activity in eosinophil after stimulation with IL5, leukotriene B4 or PMA (PubMed:11748588). In collagen-induced platelet aggregation, acts a negative regulator of filopodia formation and actin polymerization by interacting with and negatively regulating VASP phosphorylation (PubMed:16940418). Downstream of PAR1, PAR4 and CD36/GP4 receptors, regulates differentially platelet dense granule secretion; acts as a positive regulator in PAR-mediated granule secretion, whereas it negatively regulates CD36/GP4-mediated granule release (PubMed:19587372). Phosphorylates MUC1 in the C-terminal and regulates the interaction between MUC1 and beta-catenin (PubMed:11877440). The catalytic subunit phosphorylates 14-3-3 proteins (YWHAB, YWHAZ and YWHAH) in a sphingosine-dependent fashion (By similarity). Phosphorylates ELAVL1 in response to angiotensin-2 treatment (PubMed:18285462). Phosphorylates mitochondrial phospholipid scramblase 3 (PLSCR3), resulting in increased cardiolipin expression on the mitochondrial outer membrane which facilitates apoptosis (PubMed:12649167). Phosphorylates SMPD1 which induces SMPD1 secretion (PubMed:17303575). Acts as a negative regulator of smoothened signaling by mediating phosphorylation of GLI1, preventing its localization to the nucleus (PubMed:19015273)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PKCdelta serves as a potential biomarker and therapeutic target for microglia-mediated neuroinflammation in Alzheimer's disease., [RefSeq, PubMed]; Protein kinase C delta regulates mononuclear phagocytes and hinders response to immunotherapy in cancer., [RefSeq, PubMed]; Superbinder based phosphoproteomic landscape revealed PRKCD_pY313 mediates the activation of Src and p38 MAPK to promote TNBC progression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]., [RefSeq]; Thrombin-Induced COX-2 Expression and PGE2 Synthesis in Human Tracheal Smooth Muscle Cells: Role of PKCdelta/Pyk2-Dependent AP-1 Pathway Modulation. 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": 69, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0KZ81;B2R834;Q15144;Q86XJ6", "ec_number_list": "2.7.11.1;2.7.11.21;4.6.1.19;3.2.1.24;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.10.1;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;1.6.2.2;2.7.2.3;3.2.1.51;3.5.3.1;1.11.2.2;3.2.1.-;3.2.1.22;2.7.11.23;3.4.21.4;3.2.1.52;3.2.1.31;3.4.21.37;3.4.21.20;4.6.1.18;3.4.16.5;3.4.16.-;2.4.1.1;3.1.27.-;2.7.1.40;3.1.6.8;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;3.1.6.14;3.1.6.12;3.2.1.23;2.7.11.11;1.1.1.205;3.5.1.26;2.3.1.48;3.4.21.76;2.7.11.15;2.7.11.16;1.11.1.27;3.1.1.4;2.3.1.23;2.3.1.-;3.1.6.4;2.7.1.32;2.7.1.82;2.7.10.4;2.7.1.153;2.7.1.137;3.4.22.56;2.7.11.26;2.7.1.154;3.6.1.-;2.3.3.8;3.4.14.1;2.7.11.31;3.6.4.6;3.2.1.17;2.3.2.27;2.7.11.12;5.2.1.8;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;6.3.4.21;1.8.4.-;5.3.4.1;2.7.11.38;2.7.11.34;3.4.19.9;3.6.-.-;1.6.5.5;3.1.3.16;5.3.99.3;2.7.1.91;3.5.4.4;3.4.14.2;2.7.1.150;3.5.3.15", "go_molecular_function": "GO:0004699 diacylglycerol-dependent, calcium-independent serine/threonine kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0046627 negative regulation of insulin receptor signaling pathway;GO:1904385 cellular response to angiotensin;GO:1900163 positive regulation of phospholipid scramblase activity;GO:2000753 positive regulation of glucosylceramide catabolic process", "synthesized_glycan_count": 0, "hit_score": 39.9, "record_id": "Q05655-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16881-1", "uniprot_id": "TRXR1_HUMAN", "mass": 70906.0, "length": 649, "protein_name": "Thioredoxin reductase 1, cytoplasmic", "gene_name": "TXNRD1", "organism": "Human", "refseq_name": "thioredoxin reductase 1, cytoplasmic isoform 5", "refseq_ac": "NP_001087240", "gene_names_uniprotkb": "TXNRD1; GRIM12; KDRF", "gene_names_refseq": "GRIM-12; TR1; TRXR1; TR; TXNR1; TXNRD1; TXNR", "protein_names_uniprotkb": "Thioredoxin reductase 1, cytoplasmic; 1.11.1.2; 1.8.1.9; GRIM-12; Gene associated with retinoic and IFN-induced mortality 12 protein; Gene associated with retinoic and interferon-induced mortality 12 protein; KM-102-derived reductase-like factor; Peroxidase TXNRD1; TR; Thioredoxin reductase TR1", "protein_names_refseq": "KM-102-derived reductase-like factor; gene associated with retinoic and IFN-induced mortality 12 protein; gene associated with retinoic and interferon-induced mortality 12 protein; oxidoreductase; peroxidase TXNRD1; selenoprotein TXNRD1; testis tissue sperm-binding protein Li 46a; thioredoxin reductase 1, cytoplasmic isoform 5; thioredoxin reductase 1, cytoplasmic; thioredoxin reductase GRIM-12; thioredoxin reductase TR1", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis (Disease Ontology:DOID:332); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:7296); (R-HSA-1989781); (R-HSA-2408550); (R-HSA-3299685); (R-HSA-499943); (R-HSA-5263617); (R-HSA-5336415); (R-HSA-5628897); (R-HSA-9818027)", "pathway_count": 9, "publication_count": 341, "publication_id_list": "10029572;10215863;10329961;10453732;10455115;10514471;10521424;10618642;10656833;10679223;10706635;10716435;10733945;10745013;10777541;10799505;10821856;10833429;10849437;10884394;10899599;10919671;10980602;10982;11018045;11029283;11034341;11139407;11237011;11267664;11277919;11278511;11309284;11340051;11486029;11507097;11517226;11518528;11545734;11782468;11796141;11886899;11912132;11912930;11959846;12118000;12161445;12177166;12203114;12234984;12235164;12438239;12446202;12453409;12505311;12506115;12582161;12668662;12714747;12829378;12869586;12906785;12972261;13211603;1321713;13298683;13538944;14651849;14729598;14980707;15044467;15046979;15064408;15067378;15105503;15130092;15199063;15223;15280035;15317809;15379556;15448164;15520857;15589136;15590625;15592455;15596429;15630091;15635043;15728556;15927447;16140933;16179339;16314513;16373698;16380219;16401067;16413492;164179;16615992;16636147;1668270;16728594;16750198;16756507;16760263;16815975;16820675;16839880;16880213;16972786;17234762;17275676;17298220;17320107;17486094;17512005;17519234;17540029;1763037;17707404;177353;17824959;17942419;18042542;18083107;18198340;18344994;18358825;18469;1851158;18540824;18635542;18692468;18703498;18719978;18848529;18936159;18997010;19028565;19088433;19113821;19176520;19219623;19220460;19273602;19439913;19487573;19542232;19608619;19710929;19766732;19822145;19934321;1999334;20068231;20070187;20080666;20110263;20182617;20351271;20367259;20378837;20460467;20690882;2071038;21080915;211388;211390;21215271;21385867;21393238;21750704;21775727;21958598;21967640;22069710;221484;22223895;22363791;22493009;22667998;22847445;22869735;22910329;22995213;23027624;23152058;23164639;23416111;23454490;23455484;23775793;24041992;24066844;24196956;24366874;24383451;24715725;24718924;25002527;25047527;2537056;25418920;2542324;25576301;25579166;25645385;26464515;2656695;26652033;2668278;26811146;26853435;26992070;27100828;27452731;27600516;27653015;27756681;27846572;27862975;28218747;28228285;2862151;28832583;28834231;28985506;29242379;29317506;29393594;29437277;29493099;29557506;29632046;29693710;29959055;30315122;30410026;30484775;30524438;30833945;31530632;31597407;31844290;31848261;32157095;32161166;32284348;32350084;32357974;32387766;32488085;32502341;32601262;32897882;32938616;32983136;33043019;33043033;33214551;33298915;33462411;33592498;33633747;33774477;33968037;33981976;34019948;34171305;34229054;34357683;3457020;34725712;35051231;35154160;35251023;3532102;35561310;35580925;36010968;3619451;36215666;36241641;3693360;38565059;38636790;38665916;40615;4326212;5022429;5389100;5484814;5545092;5666113;60;6182143;6248551;6286671;6961438;7000782;7021796;7172448;7430147;7462325;7487923;7589432;7685352;7685356;7851394;7892212;7959763;7979252;7989588;807573;8119488;8194524;8367482;8379940;8428933;8448179;8452552;8577704;8647822;8650234;8663313;8663465;8999974;9012850;9240432;9295278;9369223;9488696;9639555;9668121;9677297;9726962;9748239;9774665;9923614;9926927", "class_list": "", "function": "Enhances the transcriptional activity of estrogen receptors ESR1 and ESR2., [UniProtKB, PubMed]; Enhances the transcriptional activity of the estrogen receptor ESR2 only (PubMed:15199063). Mediates cell death induced by a combination of interferon-beta and retinoic acid (PubMed:9774665)., [UniProtKB, PubMed, PubMed]; Induces actin and tubulin polymerization, leading to formation of cell membrane protrusions., [UniProtKB, PubMed, PubMed]; Reduces disulfide protein thioredoxin (Trx) to its dithiol-containing form (PubMed:8577704). Homodimeric flavoprotein involved in the regulation of cellular redox reactions, growth and differentiation. A selenocysteine residue at the C-terminal active site is essential for catalysis (Probable). Also has reductase activity on hydrogen peroxide (H2O2) (PubMed:10849437)., [UniProtKB, PubMed, PubMed, PubMed]; Reduces disulfide protein thioredoxin (Trx) to its dithiol-containing form. Homodimeric flavoprotein involved in the regulation of cellular redox reactions, growth and differentiation. A selenocysteine residue at the C-terminal active site is essential for catalysis. Also has reductase activity on hydrogen peroxide (H2O2)., [UniProtKB, UniProtKB, UniProtKB]; Synergistic targeting of TrxR1 and ATM/AKT pathway in human colon cancer cells., [RefSeq, PubMed]; TXNRD1_v1 and TXNRD1_v2 have distinct roles in differentiation, possibly by altering the expression of the genes associated with differentiation, and further emphasize the importance in distinguishing each unique action of different TrxR1 splice forms Publication Status: Online-Only, [RefSeq, PubMed]; The Grx domain of TXNRD1_v3 localizes first in the emerging cell membrane protrusion and is then followed into the protrusions by actin and subsequently by tubulin, [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 an ubiquitously expressed, cytosolic form of TrxR, which 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. Alternative splicing, primarily at the 5' end, results in transcript variants encoding same or different isoforms, including a glutaredoxin-containing isoform that is predominantly expressed in testis. [provided by RefSeq, May 2017]., [RefSeq]; Therapeutic targeting of thioredoxin reductase 1 causes ferroptosis while potentiating anti-PD-1 efficacy in head and neck 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": 6, "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": "B7Z1F4;B7Z3Y8;B7Z904;E9PMY9;F5H780;Q6FI31;Q6VB40;Q6VB41;Q6VB42;Q6VBP2;Q6VBP3;Q6VBP4;Q6VBP5;Q6VBP9;Q6VBQ0;Q6YNQ1;Q76P53;Q7LA96;Q8WVC8;Q99475;Q9UES8;Q9UH79", "ec_number_list": "3.6.4.10;1.8.1.9;2.3.1.48;2.3.1.-;1.11.1.2;3.6.4.-;2.1.1.319;2.1.1.-;3.1.13.1;5.6.2.6;3.6.4.13", "go_molecular_function": "GO:0004791 thioredoxin-disulfide reductase (NADPH) activity;GO:0042802 identical protein binding;GO:0071949 FAD binding;GO:0050137 NADPH peroxidase activity;GO:0050660 flavin adenine dinucleotide binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:0045454 cell redox homeostasis;GO:0006979 response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 34.4, "record_id": "Q16881-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2W2-1", "uniprot_id": "WBP11_HUMAN", "mass": 69998.0, "length": 641, "protein_name": "WW domain-binding protein 11", "gene_name": "WBP11", "organism": "Human", "refseq_name": "WW domain-binding protein 11", "refseq_ac": "NP_057396", "gene_names_uniprotkb": "WBP11; NPWBP; SIPP1; SNP70", "gene_names_refseq": "BUG13; NPWBP; PPP1R165; SIPP1; VCTERL; VCTRL; WBP-11; WBP11", "protein_names_uniprotkb": "WW domain-binding protein 11; Npw38-binding protein; NpwBP; SH3 domain-binding protein SNP70; Splicing factor that interacts with PQBP-1 and PP1; WBP-11", "protein_names_refseq": "Npw38-binding protein NpwBP; SH3 domain-binding protein SNP70; WW domain-binding protein 11; protein phosphatase 1, regulatory subunit 165; splicing factor that interacts with PQBP-1 and PP1; splicing factor, PQBP1 and PP1 interacting", "tax_id": 9606, "disease": "vertebral, cardiac, tracheoesophageal, renal, and limb defects (MONDO:MONDO:0030987)", "pathway": " (hsa:51729); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 163, "publication_id_list": "10593949;10882114;11014198;11101529;11233976;11237011;11375989;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14640981;14713954;14762106;15084397;16314458;16809785;17081983;17095540;17322306;17332742;17606899;18212344;18322460;18452278;18491316;18593880;18669648;18707149;18767875;19103666;19165350;19415658;19536130;19592703;19608861;19651622;19690332;20068231;20410308;20423332;20980672;21406692;21536652;2176635;21911577;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24129315;24196718;24275569;24304693;24448447;24715725;24737827;24914973;25555158;25576301;2558966;26092250;26385511;26420826;26768311;26969736;26992070;27108190;27377154;27459055;27683217;27846572;28062851;28076346;28218747;28228285;28502770;28510447;28781166;28832583;29242379;29301961;29360106;29361316;29557506;29632711;2963332;29902443;30315277;30410026;30429286;30444036;30599162;30620550;30705154;30728453;30765414;30975767;31092671;31154438;31217245;31409651;31530632;31844290;31848261;32157095;32161166;32179686;32329775;32387766;32488085;32494006;32502341;32938616;32983136;33141586;33177556;33214551;33243851;33276377;33298915;33446560;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34301950;34822310;34932366;35051231;35215846;35254053;35385551;35580925;36010968;36284347;37217939;3757028;40307207;40596516;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Activates pre-mRNA splicing. May inhibit PP1 phosphatase activity., [UniProtKB, PubMed, PubMed, PubMed]; Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice., [RefSeq, PubMed]; This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 20, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q96AY8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0019888 protein phosphatase regulator activity;GO:0050699 WW domain binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0006364 rRNA processing;GO:0006396 RNA processing", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q9Y2W2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48995-1", "uniprot_id": "TRPC1_HUMAN", "mass": 91212.0, "length": 793, "protein_name": "Short transient receptor potential channel 1", "gene_name": "TRPC1", "organism": "Human", "refseq_name": "short transient receptor potential channel 1 isoform 1", "refseq_ac": "NP_001238774", "gene_names_uniprotkb": "TRPC1; TRP1", "gene_names_refseq": "HTRP-1; TRP1; TRPC1", "protein_names_uniprotkb": "Short transient receptor potential channel 1; TRP-1; Transient receptor protein 1; TrpC1", "protein_names_refseq": "capacitative calcium channel protein Trp1; short transient receptor potential channel 1 isoform 1; short transient receptor potential channel 1; transient receptor potential canonical 1; transient receptor protein 1", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); autism spectrum disorder (Disease Ontology:DOID:0060041); stomach cancer (Disease Ontology:DOID:10534); neurodegenerative disease (Disease Ontology:DOID:1289); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:7220); (R-HSA-3295583); (R-HSA-418890); (R-HSA-5578775); (R-HSA-983695)", "pathway_count": 5, "publication_count": 175, "publication_id_list": "10051622;10220561;10432293;10498607;10556826;10648173;10706702;10766822;10770799;1081164;10880360;10913253;10983984;11042164;11050376;11062458;11071869;11139478;11226139;11226282;11237011;11243859;11301059;11449366;11606584;11901194;11904675;11909947;12015988;12032305;12119109;12181444;12453414;12456653;12573241;12832055;12953268;1372019;1374290;1375264;1376928;1422598;14634208;15016832;15161916;15174025;15187135;15260953;1550550;15509800;15598648;15754088;15757897;1599430;16754674;16849466;16883570;16906149;1693919;1702903;1705565;17224452;17357072;17452328;17486119;17850865;18006696;18025150;18052078;18187424;18326500;18420269;18596693;18818202;18843204;18995841;19193631;19206206;19249086;19278978;19372136;19751721;19850920;19945390;20025796;2011584;20192804;20388710;20716668;21108950;21408196;21469132;21822214;22180443;22210847;2226863;22427649;22707725;22972900;2303036;2304550;23362265;23481700;23549614;23610579;2430951;24715725;2477373;25389312;2559024;25645385;25765567;25855297;25994790;26154972;26992070;2838329;28645727;29393594;2953725;29557506;30418433;30429286;31844290;32157095;32265295;32387766;32897882;32938616;33141586;33968037;33981976;34171305;34509645;3500860;35051231;35905654;36010968;36241641;36797544;37062436;38277724;39116710;39478185;4589993;6328127;6335036;7524079;7528218;7538118;7568191;7589464;7592958;7687428;7687539;7688784;7691807;7702581;7927516;7929371;803528;8163536;8306975;8663995;8798450;8918259;8947047;9215637;9235916;9326643;9341187;9346285;9382888;9697839;9705962", "class_list": "", "function": "Forms a receptor-activated non-selective calcium permeant cation channel (PubMed:11139478, PubMed:15016832, PubMed:39478185). Forms a heteromeric ion channel with TRPC4 or TRPC5 that has reduced calcium permeability compared to the homomeric TRPC4 or TRPC5 channel (PubMed:39478185). Also permeable to monovalent ions including sodium, lithium and cesium ions (PubMed:39478185)., [UniProtKB, PubMed, PubMed, PubMed]; Forms a receptor-activated non-selective calcium permeant cation channel. Also activated by intracellular calcium store depletion., [UniProtKB, PubMed]; Function of TRPC1 in modulating hepatocellular carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; Reduction of TRPC1/TRPC3 mediated Ca[2+]-signaling protects oxidative stress-induced COPD., [RefSeq, PubMed]; TRPC1 channels regulate the activation of pancreatic stellate cells through ERK1/2 and SMAD2 pathways and perpetuate their pressure-mediated activation., [RefSeq, PubMed]; TRPC1: The housekeeper of the hippocampus. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; Upregulation of TRPC1 protects against high glucose-induced HUVECs dysfunction by inhibiting oxidative 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14CE4", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0070679 inositol 1,4,5 trisphosphate binding;GO:0005102 signaling receptor 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:0043235 receptor complex", "go_biological_process": "GO:0051592 response to calcium ion;GO:0006816 calcium ion transport;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0051281 positive regulation of release of sequestered calcium ion into cytosol;GO:1903779 regulation of cardiac conduction", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "P48995-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41134-1", "uniprot_id": "ID1_HUMAN", "mass": 16133.0, "length": 155, "protein_name": "DNA-binding protein inhibitor ID-1", "gene_name": "ID1", "organism": "Human", "refseq_name": "DNA-binding protein inhibitor ID-1 isoform a", "refseq_ac": "NP_002156", "gene_names_uniprotkb": "ID1; BHLHB24; ID", "gene_names_refseq": "ID1; ID; bHLHb24", "protein_names_uniprotkb": "DNA-binding protein inhibitor ID-1; Class B basic helix-loop-helix protein 24; Inhibitor of DNA binding 1; Inhibitor of differentiation 1; bHLHb24", "protein_names_refseq": "DNA-binding protein inhibitor ID-1 isoform a; class B basic helix-loop-helix protein 24; dJ857M17.1.2 (inhibitor of DNA binding 1, dominant negative helix-loop-helix protein); inhibitor of DNA binding 1, HLH protein; inhibitor of differentiation 1", "tax_id": 9606, "disease": "cholestasis (Disease Ontology:DOID:13580); primary pulmonary hypertension (Disease Ontology:DOID:14557); glaucoma (Disease Ontology:DOID:1686); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:3397); (R-HSA-2559585); (R-HSA-9031628); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 215, "publication_id_list": "10203854;10358095;10381005;10567402;10611221;10611312;10655586;10656257;10673502;10734128;10826704;10872467;10882540;10984481;11018254;11027551;11234019;11280768;11331872;11343657;11567222;11755530;11782450;11840323;11883935;11891324;11912130;11930005;11956230;12399542;12511643;1377233;14522948;14597720;14729966;14969744;14975237;15102911;15118077;15161978;15226305;15449318;15507434;15542842;15572696;15620361;1570299;15733869;15836632;15880109;16014379;16034366;16136673;16187211;16211008;16221685;16260776;16287845;16339507;16407550;16484497;16574654;16732277;16822840;1698554;17088210;17088211;17088212;17412691;1748288;17623675;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;18644867;19061646;19116276;19193899;19194657;19524539;19608861;19926875;2017159;2040600;20460180;20506119;2052361;20534573;2072895;20861012;21057636;2109185;21326363;21486943;21621608;21965087;22053691;22065583;22302795;2237820;22647378;23159739;23190890;23207919;24060757;25248477;25569790;25576301;25595898;25748042;26018600;2676516;27041596;27128622;27220739;27862975;28076410;28275114;28286024;28394346;29242379;29295999;29557506;29559111;30429286;30779550;30804224;30833945;31154438;3127059;31848261;32157095;32387766;32636443;32897882;32938616;33592498;33744299;33912179;33968037;33981976;34087483;34140478;34171305;34509645;35051231;35318648;35580925;35941362;36010968;36215666;36241641;36284347;3672127;37032592;37319434;37759448;37770430;37996458;5338216;7551568;7588608;7592934;7595538;7608156;7624335;7637581;7777577;7823924;7857651;7871435;7876254;7923378;7958932;8086456;8090221;8090222;8248782;8294468;8336698;8413279;8483478;8552081;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9070860;9084409;9199364;9343422;9353119;9390517;9418898;9440696;9560246;9622090;9676189;9722618;9760192;9770464;9774344;9808461;9822744;9858769;9973413", "class_list": "", "function": "Abnormal regulation of miR-29b-ID1 signaling is involved in the process of decitabine resistance in leukemia cells., [RefSeq, PubMed]; ID1 expressing macrophages support cancer cell stemness and limit CD8[+] T cell infiltration in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; ID1 marks the tumorigenesis of pancreatic ductal adenocarcinoma in mouse and human. Publication Status: Online-Only, [RefSeq, PubMed]; Orai3 Calcium Channel Contributes to Oral/Oropharyngeal Cancer Stemness through the Elevation of ID1 Expression. Publication Status: Online-Only, [RefSeq, PubMed]; The non-cell-autonomous function of ID1 promotes AML progression via ANGPTL7 from the microenvironment., [RefSeq, PubMed]; The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Inhibits skeletal muscle and cardiac myocyte differentiation. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K537;E1P5L4;O00651;O00652;Q16371;Q16377;Q5TE66;Q5TE67;Q969Z7;Q9H0Z5;Q9H109", "ec_number_list": "", "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0003714 transcription corepressor activity;GO:0140416 transcription regulator inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001525 angiogenesis;GO:0006351 DNA-templated transcription;GO:0010628 positive regulation of gene expression;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "P41134-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12809-1", "uniprot_id": "KCNH2_HUMAN", "mass": 126655.0, "length": 1159, "protein_name": "Voltage-gated inwardly rectifying potassium channel KCNH2", "gene_name": "KCNH2", "organism": "Human", "refseq_name": "voltage-gated inwardly rectifying potassium channel KCNH2 isoform a", "refseq_ac": "NP_000229", "gene_names_uniprotkb": "KCNH2; ERG1; ERG; HERG", "gene_names_refseq": "ERG-1; ERG1; H-ERG; HERG1; HERG; KCNH2; Kv11.1; LQT2; SQT1", "protein_names_uniprotkb": "Voltage-gated inwardly rectifying potassium channel KCNH2; ERG-1; Eag homolog; Eag-related protein 1; Ether-a-go-go-related gene potassium channel 1; Ether-a-go-go-related protein 1; H-ERG; Potassium voltage-gated channel subfamily H member 2; Voltage-gated potassium channel subunit Kv11.1; hERG-1; hERG1", "protein_names_refseq": "eag homolog; eag-related protein 1; ether-a-go-go-related gene potassium channel 1; ether-a-go-go-related potassium channel protein; ether-a-go-go-related protein 1; human ether-a-go-go-related; long QT syndrome type 2; potassium channel, voltage gated eag related subfamily H, member 2; potassium voltage-gated channel, subfamily H (eag-related), member 2; voltage-gated inwardly rectifying potassium channel KCNH2 isoform a; voltage-gated inwardly rectifying potassium channel KCNH2; voltage-gated potassium channel subunit Kv11.1", "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)", "pathway": " (hsa:3757); (R-HSA-1296072); (R-HSA-5576890)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10086971;10187793;10219239;10220144;10488078;10517660;10735633;10744792;10753933;10790218;10837251;10862094;10973849;11170080;11237011;11374908;11953308;11997281;12062363;12063277;12354768;12431979;12442276;12621127;14676148;15051636;15266014;15828882;15840476;16361248;16414944;16922724;16939434;16949586;18559421;19412172;19651622;19690332;19716085;20393197;20693282;21231794;22314138;22359612;22653970;23186163;25281747;25505266;25645385;26363003;27147833;27916661;28832583;28834231;29242379;29557506;29786170;31530632;31844290;32350084;32387766;35051231;35251023;38317233;38960041;7586312;7889573;8159766;8635257;8877771;8914737;9024139;9230439;9351446;9351462;9452080;9544837;9600240;9693036;9765245;9845367;9925876;9927399", "class_list": "", "function": "An LQT2-related mutation in the voltage-sensing domain is involved in switching the gating polarity of hERG. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that post-transcriptional regulation of hERG1 pre-mRNA may represent a novel mechanism to modulate the expression and function of hERG1 channels., [RefSeq, PubMed]; Has no inward rectifier potassium channel activity by itself, but modulates channel characteristics by forming heterotetramers with other isoforms which are retained intracellularly and undergo ubiquitin-dependent degradation., [UniProtKB, PubMed, PubMed]; Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel (PubMed:10219239, PubMed:10753933, PubMed:10790218, PubMed:10837251, PubMed:11997281, PubMed:12063277, PubMed:18559421, PubMed:22314138, PubMed:22359612, PubMed:26363003, PubMed:27916661, PubMed:9230439, PubMed:9351446, PubMed:9765245). Channel properties are modulated by cAMP and subunit assembly (PubMed:10837251). 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 (PubMed:10219239, PubMed:10753933, PubMed:10790218, PubMed:10837251, PubMed:11997281, PubMed:12063277, PubMed:18559421, PubMed:22314138, PubMed:22359612, PubMed:26363003, PubMed:27916661, PubMed:9230439, PubMed:9351446, PubMed:9765245). Forms a stable complex with KCNE1 or KCNE2, and that this heteromultimerization regulates inward rectifier potassium channel activity (PubMed:10219239, PubMed:9230439)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Rescue of expression and function of long QT syndrome-causing mutant hERG channels by enhancing channel stability in the plasma membrane., [RefSeq, PubMed]; This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional potassium channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "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": 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": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 15, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A5H1P7;C4PFH9;D3DX04;O75418;O75680;Q708S9;Q9BT72;Q9BUT7;Q9H3P0", "ec_number_list": "1.8.-.-", "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:1902937 inward rectifier potassium channel complex;GO:0005886 plasma membrane;GO:0009986 cell surface;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:1901380 negative regulation of potassium ion transmembrane transport;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", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q12809-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41235-1", "uniprot_id": "HNF4A_HUMAN", "mass": 52785.0, "length": 474, "protein_name": "Hepatocyte nuclear factor 4-alpha", "gene_name": "HNF4A", "organism": "Human", "refseq_name": "hepatocyte nuclear factor 4-alpha isoform 2", "refseq_ac": "NP_000448", "gene_names_uniprotkb": "HNF4A; HNF4; NR2A1; TCF14", "gene_names_refseq": "FRTS4; HNF4A; HNF4a7; HNF4a8; HNF4a9; HNF4alpha; HNF4; MODY1; MODY; NR2A1; NR2A21; TCF-14; TCF14; TCF", "protein_names_uniprotkb": "Hepatocyte nuclear factor 4-alpha; HNF-4-alpha; Nuclear receptor subfamily 2 group A member 1; TCF-14; Transcription factor 14; Transcription factor HNF-4", "protein_names_refseq": "HNF4alpha10/11/12; hepatic nuclear factor 4 alpha; hepatocyte nuclear factor 4-alpha isoform 2; nuclear receptor subfamily 2 group A member 1; transcription factor 14; transcription factor HNF-4", "tax_id": 9606, "disease": "maturity-onset diabetes of the young (Disease Ontology:DOID:0050524); Fanconi renotubular syndrome 4 (Disease Ontology:DOID:0080760); maturity-onset diabetes of the young type 1 (Disease Ontology:DOID:0111099); Fanconi syndrome (Disease Ontology:DOID:1062); familial combined hyperlipidemia (Disease Ontology:DOID:13809); alcohol use disorder (Disease Ontology:DOID:1574); glaucoma (Disease Ontology:DOID:1686); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:3172); (R-HSA-383280); (R-HSA-9831926)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10235266;10389854;10542397;11237011;11865025;12740371;14982928;15175151;15896744;16351573;16751179;17407387;19353766;21708125;22308320;22802087;24275569;24285859;25576301;25880248;28128295;29557506;29899848;30468856;30530698;30597922;31844290;32161166;32387766;34185709;35051231;35132862;35494241;35580925;38901435;38965210;39098847;39302247;39531497;39894887;7568236;7926813;8622695;8945471;8964514;9234678;9243109;9267996;9313765;9449683;9653119", "class_list": "", "function": "CircVPS8 promotes the malignant phenotype and inhibits ferroptosis of glioma stem cells by acting as a scaffold for MKRN1, SOX15 and HNF4A., [RefSeq, PubMed]; Results describe HNF4alpha variants designated HNF4alpha10-12 expressed from distal promoter P2, and provide evidence for a more complex expression pattern of HNF4alpha than previously appreciated., [RefSeq, PubMed]; Role of Hepatocyte Nuclear Factor 4 Alpha in Liver Cancer. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]., [RefSeq]; Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698)., [UniProtKB, PubMed, PubMed, UniProtKB]; Transposable elements-mediated recruitment of KDM1A epigenetically silences HNF4A expression to promote hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 17, "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": "A5JW41;B2RPP8;O00659;O00723;Q14540;Q5QPB8;Q6B4V5;Q6B4V6;Q6B4V7;Q92653;Q92654;Q92655;Q99864;Q9NQH0", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0005102 signaling receptor binding;GO:0005504 fatty acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0060398 regulation of growth hormone 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;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P41235-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12918-1", "uniprot_id": "KLRB1_HUMAN", "mass": 25415.0, "length": 225, "protein_name": "Killer cell lectin-like receptor subfamily B member 1", "gene_name": "KLRB1", "organism": "Human", "refseq_name": "killer cell lectin-like receptor subfamily B member 1", "refseq_ac": "NP_002249", "gene_names_uniprotkb": "KLRB1; CLEC5B; NKRP1A", "gene_names_refseq": "CD161; CLEC5B; KLRB1; NKR-P1A; NKR-P1; NKRP1A; NKR; hNKR-P1A", "protein_names_uniprotkb": "Killer cell lectin-like receptor subfamily B member 1; C-type lectin domain family 5 member B; HNKR-P1a; NKR-P1A; Natural killer cell surface protein P1A", "protein_names_refseq": "C-type lectin domain family 5 member B; killer cell lectin-like receptor subfamily B member 1; killer cell lectin-like receptor subfamily B, member 1; natural killer cell surface protein P1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:3820); (R-HSA-198933)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12100027;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15489334;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339512;16339513;16380601;16455998;16551255;16737824;16754721;16893496;16904340;16925668;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;20843815;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;28832583;29242379;32159362;32416673;33368526;33592174;34305920;35051231;36028489;38502058;38608099;38636371;38782996;38914941;7531291;7542404;8077657;8178173;8647203;8995416;9218532;9285412;9314561;9341779;9394825;9603467;9700512;9730896", "class_list": "glycogene", "function": "A comprehensive analysis of the KLRB1 expression and its clinical implication in testicular germ cell tumors: A review. Review article, [RefSeq, PubMed]; Deciphering the role of KLRB1: a novel prognostic indicator in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Down-regulation of KLRB1 is associated with increased cell growth, metastasis, poor prognosis, as well as a dysfunctional immune microenvironment in LUAD. Publication Status: Online-Only, [RefSeq, PubMed]; Immune checkpoint CD161/LLT1-associated immunological landscape and diagnostic value in oral squamous cell carcinoma., [RefSeq, PubMed]; KLRB1 defines an activated phenotype of CD4+ T cells and shows significant upregulation in patients with primary Sjogren's syndrome., [RefSeq, PubMed]; Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]., [RefSeq]; Plays an inhibitory role on natural killer (NK) cells cytotoxicity. Activation results in specific acid sphingomyelinase/SMPD1 stimulation with subsequent marked elevation of intracellular ceramide. Activation also leads to AKT1/PKB and RPS6KA1/RSK1 kinases stimulation as well as markedly enhanced T-cell proliferation induced by anti-CD3. Acts as a lectin that binds to the terminal carbohydrate Gal-alpha(1,3)Gal epitope as well as to the N-acetyllactosamine epitope. Also binds to CLEC2D/LLT1 as a ligand and inhibits NK cell-mediated cytotoxicity as well as interferon-gamma secretion in target cells., [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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 271, "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": "Q24K24", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0042269 regulation of natural killer cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q12918-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14733-1", "uniprot_id": "MP2K7_HUMAN", "mass": 47485.0, "length": 419, "protein_name": "Dual specificity mitogen-activated protein kinase kinase 7", "gene_name": "MAP2K7", "organism": "Human", "refseq_name": "dual specificity mitogen-activated protein kinase kinase 7 isoform 1", "refseq_ac": "NP_001284484", "gene_names_uniprotkb": "MAP2K7; JNKK2; MEK7; MKK7; PRKMK7; SKK4", "gene_names_refseq": "JNKK2; MAP2K7; MAPKK7; MEK 7; MEK; MKK7; PRKMK7; SAPKK-4; SAPKK4", "protein_names_uniprotkb": "Dual specificity mitogen-activated protein kinase kinase 7; 2.7.12.2; JNK kinase 2; JNK-activating kinase 2; JNKK 2; MAP kinase kinase 7; MAPK/ERK kinase 7; MAPKK 7; MEK 7; SAPK kinase 4; SAPKK-4; SAPKK4; Stress-activated protein kinase kinase 4; c-Jun N-terminal kinase kinase 2", "protein_names_refseq": "JNK-activating kinase 2; MAP kinase kinase 7; MAPK/ERK kinase 7; SAPK kinase 4; c-Jun N-terminal kinase kinase 2; dual specificity mitogen-activated protein kinase kinase 7 isoform 1; dual specificity mitogen-activated protein kinase kinase 7; stress-activated protein kinase kinase 4", "tax_id": 9606, "disease": "heart disease (Disease Ontology:DOID:114); colon adenocarcinoma (Disease Ontology:DOID:234); lung carcinoma (Disease Ontology:DOID:3905); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); schizophrenia (Disease Ontology:DOID:5419); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:5609); (R-HSA-2559580); (R-HSA-2871796); (R-HSA-450321); (R-HSA-5210891)", "pathway_count": 5, "publication_count": 196, "publication_id_list": "10026222;10347217;10347227;10395673;10490659;10523831;10713157;10722742;10772813;10871633;11007481;11104681;11278486;11306453;11340169;11564866;11804587;12134156;12189133;12193592;12421820;12435631;12670394;12808055;13130464;1438214;14507994;14532106;15287722;15337774;15358159;15548136;15563468;15596135;15837794;15866172;16186825;16337592;16436515;16442502;1644824;16826196;17110930;17210787;17234158;17254968;17255097;17332741;17344414;17344846;17395714;17496909;17540168;17765224;17825402;17875933;18286207;18365017;18793328;19124833;19451217;19451218;19462008;19528227;19574218;19592646;19909365;20068231;20801953;2114169;21278800;21333379;21986495;22020331;22325352;22336108;22424782;22683641;22903704;23186163;23481700;23566306;24714562;24715725;25576301;25892735;25974265;26154972;26992070;27034005;27600516;27846572;28111074;28228285;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34561969;35051231;35561310;35580925;36215666;36241641;37154160;37686402;38115586;38141200;38261743;6328915;7535770;7588633;7816143;7854123;7855889;7859739;7997270;8001816;8051159;8078588;8259215;8319905;8493579;8533096;8622669;8622688;8626550;8663278;8673706;8702662;8741839;8774846;8846784;8974401;8986718;8995445;9030721;9099726;9162092;9195981;9199344;9207092;9312068;9372971;9529249;9535930;9563949;9564042;9628874;9639556;9703991;9768359;9824166;9989831", "class_list": "", "function": "Combined PDE4+MEK inhibition shows antiproliferative effects in NRASQ61 mutated melanoma preclinical models., [RefSeq, PubMed]; Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. With MAP2K4/MKK4, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylation site in the Thr-Pro-Tyr motif. MAP2K4/MKK4 shows preference for phosphorylation of the Tyr residue and MAP2K7/MKK7 for the Thr residue. The monophosphorylation of JNKs on the Thr residue is sufficient to increase JNK activity indicating that MAP2K7/MKK7 is important to trigger JNK activity, while the additional phosphorylation of the Tyr residue by MAP2K4/MKK4 ensures optimal JNK activation. Has a specific role in JNK signal transduction pathway activated by pro-inflammatory cytokines. The MKK/JNK signaling pathway is also involved in mitochondrial death signaling pathway, including the release cytochrome c, leading to apoptosis. Part of a non-canonical MAPK signaling pathway, composed of the upstream MAP3K12 kinase and downstream MAP kinases MAPK1/ERK2 and MAPK3/ERK1, that enhances the AP-1-mediated transcription of APP in response to APOE (PubMed:28111074)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; FOXM1, MEK, and CDK4/6: New Targets for Malignant Peripheral Nerve Sheath Tumor Therapy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; IL-17 promotes IL-18 production via the MEK/ERK/miR-4492 axis in osteoarthritis synovial fibroblasts., [RefSeq, PubMed]; Inhibition of MEK Signaling Attenuates Cancer Stem Cell Activity in Anaplastic Thyroid Cancer., [RefSeq, PubMed]; Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9S5;D6W659;O14648;O14816;O60452;O60453;Q1PG43;Q8IY10", "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;2.7.10.1;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.-;2.7.1.32;2.7.1.82;2.7.10.4;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;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0008545 JUN kinase kinase activity;GO:0000287 magnesium ion binding;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006970 response to osmotic stress;GO:0007165 signal transduction;GO:0034612 response to tumor necrosis factor;GO:0046330 positive regulation of JNK cascade;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "O14733-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P25116-1", "uniprot_id": "PAR1_HUMAN", "mass": 47441.0, "length": 425, "protein_name": "Proteinase-activated receptor 1", "gene_name": "F2R", "organism": "Human", "refseq_name": "proteinase-activated receptor 1 isoform 2", "refseq_ac": "NP_001298242", "gene_names_uniprotkb": "F2R; CF2R; PAR1; TR", "gene_names_refseq": "CF2R; F2R; HTR; PAR-1; PAR1; TR", "protein_names_uniprotkb": "Proteinase-activated receptor 1; Coagulation factor II receptor; PAR-1; Thrombin receptor", "protein_names_refseq": "protease-activated receptor 1; proteinase-activated receptor 1 isoform 2; proteinase-activated receptor 1", "tax_id": 9606, "disease": "pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); arteriovenous malformation (Disease Ontology:DOID:11294); neurodegenerative disease (Disease Ontology:DOID:1289); alcohol use disorder (Disease Ontology:DOID:1574); brain ischemia (Disease Ontology:DOID:2316); basal cell carcinoma (Disease Ontology:DOID:2513); brain edema (Disease Ontology:DOID:4724)", "pathway": " (hsa:2149); (R-HSA-375276); (R-HSA-416476); (R-HSA-456926); (R-HSA-9769739)", "pathway_count": 5, "publication_count": 211, "publication_id_list": "10.1101/2023.09.13.557529;10026158;10079109;10100623;10191087;10381885;10391209;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11035113;11237011;11238108;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;11833835;12052963;12120503;12427552;12540846;12719537;1280419;12907439;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;16102047;16161994;16182515;1618828;16268778;16339447;1655761;16580177;16619025;1672265;16754659;16923326;1710450;1710578;1719979;1722333;17506785;17598008;17635713;18127230;18434541;1847994;18515384;18577758;18936096;18988770;1902833;1905813;19297154;1930190;19715408;20427285;20670195;21550978;21932952;22144186;22618708;22659187;2271516;22786881;23186163;23446738;23481700;23683607;23690594;2384594;24190977;24554904;24715725;24906252;2538457;25645385;25713144;25855704;2649896;27496565;28228285;2841328;28467828;28904123;29242379;29419409;29557506;30568593;3086311;30918026;31262782;31439947;31844290;3202875;32350084;32639031;32938616;33592498;3366244;33968037;34171305;34831181;35051231;35154160;35251023;3525564;35738824;35881628;36215666;36284347;36951953;3744129;37726033;38115179;38174561;3856870;3863104;38665916;38984988;39190381;39894887;6274691;6281660;6323392;6373251;6589611;7057924;7499257;7524088;7590751;7592910;7592911;7624359;7744748;7797512;7905839;7937899;7994033;8035319;8062389;8063797;8136362;8144529;8185599;8201839;8248172;8290554;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8639781;8664309;8666380;8702752;873923;8823230;8955127;8982657;9087410;9171878;9218519;9305846;9459334;9469622;9521323;9530155;9593744;9607765;9618465;9685625;9722565;9770463;9792798;9832121;9851594;9924018", "class_list": "", "function": "Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]., [RefSeq]; High affinity receptor that binds the activated thrombin, leading to calcium release from intracellular stores (PubMed:1672265, PubMed:8136362). The thrombin-activated receptor signaling pathway is mediated through PTX-insensitive G proteins, activation of phospholipase C resulting in the production of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) which binds to InsP3 receptors causing calcium release from the stores (By similarity). In astrocytes, the calcium released into the cytosol allows the Ca(2+)-dependent release of L-glutamate into the synaptic cleft through BEST1, that targets the neuronal postsynaptic GRIN2A/NMDAR receptor resulting in the synaptic plasticity regulation (By similarity). May play a role in platelets activation and in vascular development (PubMed:10079109). Mediates up-regulation of pro-inflammatory cytokines, such as MCP-1/CCL2 and IL6, triggered by coagulation factor Xa (F10) in cardiac fibroblasts and umbilical vein endothelial cells (PubMed:30568593, PubMed:34831181)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; KLK10 promotes the progression of KRAS mutant colorectal cancer via PAR1-PDK1-AKT signaling pathway., [RefSeq, PubMed]; PAR1 Activation, via LMBR1/BMP Axis, Promotes the Osteogenesis of Periodontal Ligament Stem Cells (PDLSCs) and Alleviates the Inhibitory Effect of Sodium Butyrate on PDLSCs Osteogenesis., [RefSeq, PubMed]; PAR1-mediated Non-periodical Synchronized Calcium Oscillations in Human Mesangial Cells., [RefSeq, PubMed]; Thrombomodulin Switches Signaling and Protease-Activated Receptor 1 Cleavage Specificity of Thrombin., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 5, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 8, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q53XV0;Q96RF7;Q9BUN4", "ec_number_list": "", "go_molecular_function": "GO:0015057 thrombin-activated receptor activity;GO:0031681 G-protein beta-subunit binding;GO:0004930 G protein-coupled receptor activity;GO:0005102 signaling receptor binding;GO:0001965 G-protein alpha-subunit binding", "go_cellular_component": "GO:0031094 platelet dense tubular network;GO:0005576 extracellular region;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007529 establishment of synaptic specificity at neuromuscular junction;GO:0032651 regulation of interleukin-1 beta production;GO:1900134 negative regulation of renin secretion into blood stream;GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "P25116-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C0K7-1", "uniprot_id": "STRAB_HUMAN", "mass": 47026.0, "length": 418, "protein_name": "STE20-related kinase adapter protein beta", "gene_name": "STRADB", "organism": "Human", "refseq_name": "STE20-related kinase adapter protein beta isoform 2", "refseq_ac": "NP_001193793", "gene_names_uniprotkb": "STRADB; ALS2CR2; ILPIP; PRO1038", "gene_names_refseq": "ALS2CR2; CALS-21; ILPIPA; ILPIP; PAPK; PRO1038; STLK6; STRADB", "protein_names_uniprotkb": "STE20-related kinase adapter protein beta; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein; CALS-21; ILP-interacting protein; Pseudokinase ALS2CR2; STRAD beta", "protein_names_refseq": "ILP-interacting protein ILPIPA; STE20-related kinase adapter protein beta isoform 2; STE20-related kinase adaptor beta; STRAD beta; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 2 protein; pseudokinase ALS2CR2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55437); (R-HSA-380972)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11018120;11161814;11237011;12048196;12805220;14511394;14517248;14614828;14985505;15579580;16943194;17344846;18439900;25418920;25576301;29437277;31154438;31844290;32157095;32350084;32357974;34171305;34561969;35051231;35254053;8549768;8779952", "class_list": "", "function": "A novel XIAP-interacting protein that acts as a co-factor enhancing XIAP-mediated activation of JNK1 and the caspase-independent protection of XIAP against apoptosis, [RefSeq, PubMed]; Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. 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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5BKY7;Q9P1L0", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:1902554 serine/threonine protein kinase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0032147 activation of protein kinase activity;GO:0006611 protein export from nucleus", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9C0K7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15349-1", "uniprot_id": "KS6A2_HUMAN", "mass": 83239.0, "length": 733, "protein_name": "Ribosomal protein S6 kinase alpha-2", "gene_name": "RPS6KA2", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase alpha-2 isoform d", "refseq_ac": "NP_001305866", "gene_names_uniprotkb": "RPS6KA2; MAPKAPK1C; RSK3", "gene_names_refseq": "HU-2; MAPKAPK1C; RPS6KA2; RSK3; RSK; S6K-alpha2; S6K-alpha; p90-RSK3; p90RSK2; pp90RSK3", "protein_names_uniprotkb": "Ribosomal protein S6 kinase alpha-2; 2.7.11.1; 90 kDa ribosomal protein S6 kinase 2; MAP kinase-activated protein kinase 1c; MAPK-activated protein kinase 1c; MAPKAP kinase 1c; MAPKAPK-1c; RSK-3; Ribosomal S6 kinase 3; S6K-alpha-2; p90-RSK 2; p90RSK2; pp90RSK3", "protein_names_refseq": "MAP kinase-activated protein kinase 1c; MAPK-activated protein kinase 1c; mitogen-activated protein kinase-activated protein kinase 1C; ribosomal S6 kinase 3; ribosomal protein S6 kinase alpha-2 isoform d; ribosomal protein S6 kinase alpha-2; ribosomal protein S6 kinase, 90kDa, polypeptide 2", "tax_id": 9606, "disease": "Coffin-Lowry syndrome (Disease Ontology:DOID:3783)", "pathway": " (hsa:6196); (R-HSA-198753); (R-HSA-199920); (R-HSA-2559582); (R-HSA-437239); (R-HSA-442742); (R-HSA-444257); (R-HSA-881907)", "pathway_count": 8, "publication_count": 96, "publication_id_list": "10432220;10480933;10548110;10608864;10747093;10804209;10818153;11114305;11160957;11237011;11340163;11585927;11698596;12082080;12414794;12832467;12842905;12942088;14679213;15345747;15774718;16330023;16456541;16626623;16878154;17192257;17344846;18267069;18411265;18478542;18555777;18555778;18691976;18813292;19278660;19369195;19805069;20068231;20351173;20452968;2183031;21979375;22178396;22634325;23481700;23846687;2405250;2448316;24706756;25418920;26929215;27600516;28063628;28228285;28514659;28832583;28904123;29242379;29393594;29557506;29786170;31844290;31848261;31998317;32157095;32357974;32387766;32938616;33298915;33968037;34509645;35051231;35580925;36241641;36883564;37067748;38008756;40914422;7493978;7551568;7623830;8141249;8234276;8349705;8384717;8413215;8413306;8617720;8688489;8884985;8939459;9651214;9687510;9721721;9770464;9915826", "class_list": "", "function": "MTOR inhibition overcomes RSK3-mediated resistance to BET inhibitors in small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; RSK3 switches cell fate: from stress-induced senescence to malignant progression. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenic and stress-induced activation of transcription factors, regulates translation, and mediates cellular proliferation, survival, and differentiation. May function as tumor suppressor in epithelial ovarian cancer cells., [UniProtKB, PubMed, PubMed]; TBX21 attenuates colorectal cancer progression via an ARHGAP29/RSK/GSK3beta dependent manner., [RefSeq, PubMed]; This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "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": "B3KTK9;Q15419;Q59GJ3;Q5TI68;Q96J38;Q9UJN5", "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:0004711 ribosomal protein S6 kinase activity;GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004712 protein serine/threonine/tyrosine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0035556 intracellular signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q15349-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAT8-1", "uniprot_id": "PELI2_HUMAN", "mass": 46435.0, "length": 420, "protein_name": "E3 ubiquitin-protein ligase pellino homolog 2", "gene_name": "PELI2", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase pellino homolog 2", "refseq_ac": "NP_067078", "gene_names_uniprotkb": "PELI2", "gene_names_refseq": "PELI2", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase pellino homolog 2; 2.3.2.27; Pellino-2; RING-type E3 ubiquitin transferase pellino homolog 2", "protein_names_refseq": "E3 ubiquitin-protein ligase pellino homolog 2; RING-type E3 ubiquitin transferase pellino homolog 2; pellino-2; protein pellino homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57161); (R-HSA-9020702); (R-HSA-937039); (R-HSA-975144)", "pathway_count": 4, "publication_count": 73, "publication_id_list": "10075690;10514433;10702308;10854325;10882101;10918611;11094434;11237011;11306823;11960013;12496252;12538665;12791687;12804775;12860405;14625308;15917247;16547522;16884718;17135271;17141195;17507369;17675297;17890055;17997719;18070982;18180283;1828071;1833184;18347055;18438411;18724939;19022706;19081057;19264966;19903815;2139180;2147937;22669975;26154972;26992070;27090790;27466718;2946959;29493099;29557506;32157095;32897882;33592498;33912179;33968037;34387857;34674267;34932366;35051231;35561310;35580925;36010968;36776133;37938771;38058209;38917796;7628694;8327496;8332913;8599092;8837778;9346484;9371760;9430229;9859996;9990852;9990853", "class_list": "", "function": "A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia., [RefSeq, PubMed]; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6. Mediates IL1B-induced IRAK1 'Lys-63'-linked polyubiquitination and possibly 'Lys-48'-linked ubiquitination. May be important for LPS- and IL1B-induced MAP3K7-dependent, but not MAP3K3-dependent, NF-kappa-B activation. Can activate the MAP (mitogen activated protein) kinase pathway leading to activation of ELK1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Interacts with TRAF6 (tumor necrosis factor receptor associated factor 6) and TAK1 (transforming growth factor-beta activated kinase 1); can activate the mitogen activated protein kinase pathway, [RefSeq, PubMed]; K(+) regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages., [RefSeq, PubMed]; PELI2 is a negative regulator of STING signaling that is dynamically repressed during viral infection., [RefSeq, PubMed]; PELI2 regulates early B-cell progenitor differentiation and related leukemia via the IL-7R expression. Publication Status: Online-Only, [RefSeq, PubMed]; Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization., [RefSeq, PubMed]; Pellino2 interacts with kinase-active as well as kinase-inactive IRAK1 and IRAK4, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RDY5", "ec_number_list": "2.7.11.1;2.3.2.23;2.3.2.27", "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity;GO:0034450 ubiquitin-ubiquitin ligase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0043410 positive regulation of MAPK cascade;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0000209 protein polyubiquitination;GO:0008592 regulation of Toll signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9HAT8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43633-1", "uniprot_id": "CHM2A_HUMAN", "mass": 25104.0, "length": 222, "protein_name": "Charged multivesicular body protein 2a", "gene_name": "CHMP2A", "organism": "Human", "refseq_name": "charged multivesicular body protein 2a", "refseq_ac": "NP_055268", "gene_names_uniprotkb": "CHMP2A; BC2; CHMP2", "gene_names_refseq": "BC-2; BC2; CHMP2A; CHMP2; VPS2A; VPS2", "protein_names_uniprotkb": "Charged multivesicular body protein 2a; CHMP2a; Chromatin-modifying protein 2a; Putative breast adenocarcinoma marker BC-2; Vacuolar protein sorting-associated protein 2-1; Vps2-1; hVps2-1", "protein_names_refseq": "VPS2 homolog A; charged multivesicular body protein 2a; chromatin modifying protein 2A; putative breast adenocarcinoma marker (32kD); putative breast adenocarcinoma marker BC-2; vacuolar protein sorting-associated protein 2-1; vps2-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27243); (R-HSA-162588); (R-HSA-1632852); (R-HSA-432720); (R-HSA-5620971); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710); (R-HSA-9668328); (R-HSA-9679504); (R-HSA-9694676)", "pathway_count": 11, "publication_count": 178, "publication_id_list": "10394364;10436028;11096062;11139587;11237011;11333915;11559748;11563910;11604418;11694590;11825910;11994746;12665801;14505570;14519844;14624836;15075231;15187094;15218037;15331731;15473846;16155256;16371348;16533400;16565220;16730941;16867982;16897187;16963840;16973552;17116749;17547705;17618624;17853893;18321988;18385515;18439900;18687924;19211835;19322194;19527882;19559397;19590496;19640981;19651769;19855179;19859801;19898463;20059746;20068231;20230749;20708039;20713597;20921139;21177865;21205641;21238931;21258367;21310966;21383122;21460621;21543490;21620353;21757351;21799305;21819378;2204156;22170151;22645359;22682742;22762019;23186163;23202584;23266279;23305486;23685627;23727157;23884233;24275569;24714562;24747438;24954904;25135833;25418920;25469497;25484072;25502872;25568151;25576301;25645385;25961502;26040712;26040713;26154972;26375003;26508369;26728094;26811146;26992070;27281216;27383986;27418190;27600516;27846572;27862975;27920218;2799391;28045099;28063628;28228285;28242692;28392147;28459430;28832583;28834231;28904123;29177860;29242379;29393594;29493099;29508533;29539421;29557506;29632046;29786170;29891674;29898893;29990470;30143555;30315122;30379171;30429286;30513301;30976076;31020640;31113851;31154438;31231549;31844290;32109412;32157095;32188940;32265295;32350084;32357974;32367036;32387766;32488085;32820063;32897882;32938616;32983136;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34405274;34789720;35051231;35154160;35251023;35318648;35494241;35580925;36010968;36284347;7628435;8374173;8524399;8670264;9733768", "class_list": "", "function": "(Microbial infection) The ESCRT machinery functions in topologically equivalent membrane fission events, such as the budding of enveloped viruses (HIV-1 and other lentiviruses). Involved in HIV-1 p6- and p9-dependent virus release., [UniProtKB, PubMed, PubMed]; CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]., [RefSeq]; PTEN alleviates maladaptive repair of renal tubular epithelial cells by restoring CHMP2A-mediated phagosome closure. Publication Status: Online-Only, [RefSeq, PubMed]; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:21310966). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Recruited to the reforming nuclear envelope (NE) during anaphase by LEMD2 (PubMed:28242692). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4., [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": 7, "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": "B2R4W6;Q3ZTT0", "ec_number_list": "", "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0031210 phosphatidylcholine binding;GO:0180020 membrane bending activity", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0000421 autophagosome membrane;GO:0005635 nuclear envelope;GO:0005643 nuclear pore", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0010324 membrane invagination;GO:0010824 regulation of centrosome duplication;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "O43633-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P40818-1", "uniprot_id": "UBP8_HUMAN", "mass": 127523.0, "length": 1118, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 8", "gene_name": "USP8", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 8 isoform a", "refseq_ac": "NP_001122082", "gene_names_uniprotkb": "USP8; KIAA0055; UBPY", "gene_names_refseq": "HumORF8; PITA4; SPG59; UBPY; USP8", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 8; 3.4.19.12; Deubiquitinating enzyme 8; Ubiquitin isopeptidase Y; Ubiquitin thioesterase 8; Ubiquitin-specific-processing protease 8; hUBPy", "protein_names_refseq": "deubiquitinating enzyme 8; ubiquitin carboxyl-terminal hydrolase 8 isoform a; ubiquitin carboxyl-terminal hydrolase 8; ubiquitin isopeptidase Y; ubiquitin thiolesterase 8; ubiquitin-specific-processing protease 8", "tax_id": 9606, "disease": "ACTH-secreting pituitary adenoma (Disease Ontology:DOID:7004)", "pathway": " (hsa:9101); (R-HSA-1358803); (R-HSA-4641263); (R-HSA-5689880); (R-HSA-6807004)", "pathway_count": 5, "publication_count": 189, "publication_id_list": "10444327;10982817;11237011;11566882;11741535;11894096;11923872;12244174;12411582;12475979;12551915;12686592;12917689;12917691;14661020;15053880;15123609;15828871;15916963;16109882;16113677;16214042;16227611;16357527;16520378;16771824;16901786;16964243;16964248;17035239;17178829;17210635;17290220;17322306;17400545;17443180;17711858;17804805;17873522;17924679;17980597;17981138;18172164;18329369;18452278;18467330;18632802;18636086;18669648;18767875;18819921;19015242;19109251;19129480;19135894;19188362;19363159;19398555;19413330;19415658;19424180;19427866;19651622;19664994;19838211;19874889;19910467;20068231;20096447;20166139;20228808;20230923;20368735;20495530;20501646;20876529;21239494;21362556;21406692;21448666;21571647;21596315;21659512;21693646;21727895;21849505;21909076;21962518;22029577;22085928;22128162;22216260;22253573;22575959;22645359;23159851;23186163;23208509;23395819;23481700;23486064;23824326;23825189;23847203;24056413;24260525;24482476;24493797;24828152;24896179;25197364;25305019;25418920;25502872;25576301;25578727;25645385;25675982;25880248;25892735;26929215;26992070;27302062;27600516;27846572;27862975;27920218;28218747;28228285;28467828;28505279;28649982;28832583;28834231;28904123;29242379;29314611;29317506;29331515;29393594;29437277;29472535;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30410026;30429286;30779550;30833945;31217245;31844290;31848261;32157095;32350084;32357974;32502341;32938616;32983136;33298915;33392160;33592498;33633747;33717175;33912179;33968037;33981976;34078123;34087483;34171305;34185709;34357683;34932366;35051231;35154160;35318648;35580925;36010968;36215666;36241641;37217939;37938771;38691659;39214302;7578059;9628861", "class_list": "", "function": "A long-term prognosis study of human USP8-mutated ACTH-secreting pituitary neuroendocrine tumours., [RefSeq, PubMed]; Autoinhibition of ubiquitin-specific protease 8: Insights into domain interactions and mechanisms of regulation., [RefSeq, PubMed]; Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1. Regulates endosomal ubiquitin dynamics, cargo sorting, membrane traffic at early endosomes, and maintenance of ESCRT-0 stability. The level of protein ubiquitination on endosomes is essential for maintaining the morphology of the organelle. Deubiquitinates EPS15 and controls tyrosine kinase stability. Removes conjugated ubiquitin from EGFR thus regulating EGFR degradation and downstream MAPK signaling. Involved in acrosome biogenesis through interaction with the spermatid ESCRT-0 complex and microtubules. Deubiquitinates BIRC6/bruce and KIF23/MKLP1. Deubiquitinates BACE1 which inhibits BACE1 lysosomal degradation and modulates BACE-mediated APP cleavage and amyloid-beta formation (PubMed:27302062)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Studies indicate that USP8/Ubpy and AMSH interact with ESCRT components to modulate the ubiquitination status of receptors and relevant sorting proteins. Review article, [RefSeq, PubMed]; This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; UBPY regulates the level of protein ubiquitination on endosomes, which is required for maintaining the morphology of the organelle, [RefSeq, PubMed]; USP8 is a positive regulator in Hh signaling by down-regulating Smo ubiquitination and thereby mediating Smo intracellular trafficking., [RefSeq, PubMed]; USP8 promotes trafficking and degradation of CXCR4 at the sorting endosome., [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": 18, "reported_mutagensis": 1, "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": "B4DKA8;Q2TB31;Q7Z3U2;Q86VA0;Q8IWI7", "ec_number_list": "2.7.10.1;2.7.11.1;3.4.19.12;2.3.2.27", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0045296 cadherin binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:0061578 K63-linked deubiquitinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0070536 protein K63-linked deubiquitination;GO:1905908 positive regulation of amyloid fibril formation;GO:1990090 cellular response to nerve growth factor stimulus", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "P40818-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UQN3-1", "uniprot_id": "CHM2B_HUMAN", "mass": 23907.0, "length": 213, "protein_name": "Charged multivesicular body protein 2b", "gene_name": "CHMP2B", "organism": "Human", "refseq_name": "charged multivesicular body protein 2b isoform 2", "refseq_ac": "NP_001231573", "gene_names_uniprotkb": "CHMP2B; CGI-84", "gene_names_refseq": "ALS17; CHMP2.5; CHMP2B; DMT1; FTDALS7; VPS2-2; VPS2B", "protein_names_uniprotkb": "Charged multivesicular body protein 2b; CHMP2.5; CHMP2b; Chromatin-modifying protein 2b; Vacuolar protein sorting-associated protein 2-2; Vps2-2; hVps2-2", "protein_names_refseq": "VPS2 homolog B; charged multivesicular body protein 2b isoform 2; chromatin modifying protein 2B; vacuolar protein-sorting-associated protein 2-2", "tax_id": 9606, "disease": "frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (Disease Ontology:DOID:0111227); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); frontotemporal dementia (Disease Ontology:DOID:9255)", "pathway": " (hsa:25978); (R-HSA-162588); (R-HSA-1632852); (R-HSA-5620971); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710); (R-HSA-9668328); (R-HSA-9679504); (R-HSA-9694676)", "pathway_count": 10, "publication_count": 149, "publication_id_list": "11096062;11230166;11237011;11563910;11825910;14519844;14624836;15075231;15187094;15218037;15331731;15473846;16041373;16371348;16565220;16807408;16897187;16963840;16964243;16973552;17618624;17928862;18212344;18321988;18439900;18452278;18669648;18767875;19007248;19211835;19322194;19413330;19415658;19527882;19590496;19640981;19651622;19664994;19691289;19855179;19859801;19898463;20058876;20059746;20068231;20166139;20352044;20713597;20921139;21177865;21205641;21238931;21258367;21383122;21406692;21460621;21757351;21799305;21819378;2204156;22170151;22682742;22762019;23186163;23202584;23266279;23305486;23685627;23727157;23884233;24714562;24715725;24747438;24954904;25135833;25484072;25502872;25568151;25576301;25645385;25961502;26040712;26040713;26154972;26375003;26508369;26992070;27281216;27383986;27418190;27846572;2799391;28045099;28242692;28392147;28459430;28514659;28832583;28834231;28904123;29177860;29242379;29393594;29508533;29539421;29557506;29632046;29786170;29891674;29898893;29990470;30143555;30429286;30513301;30976076;31113851;31154438;31217245;31231549;31844290;31848261;32109412;32157095;32161166;32188940;32350084;32357974;32367036;32387766;32574038;32820063;32938616;32983136;33298915;33633747;33691108;33936100;33968037;34087483;34357683;34561969;34997757;35051231;35251023;35513511;35580925;36414997;38740816;7628435", "class_list": "", "function": "Methylation of ESCRT-III components regulates the timing of cytokinetic abscission. Publication Status: Online-Only, [RefSeq, PubMed]; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4., [UniProtKB]; Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival., [RefSeq, PubMed]; The enhanced association between mutant CHMP2B and spastin is a novel pathological link between frontotemporal dementia and hereditary spastic paraplegias. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DJG8;Q53HC7;Q9Y4U6", "ec_number_list": "", "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0000421 autophagosome membrane;GO:0005643 nuclear pore;GO:0005737 cytoplasm", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0010824 regulation of centrosome duplication;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9UQN3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96P56-1", "uniprot_id": "CTSR2_HUMAN", "mass": 62041.0, "length": 530, "protein_name": "Cation channel sperm-associated protein 2", "gene_name": "CATSPER2", "organism": "Human", "refseq_name": "cation channel sperm-associated protein 2 isoform 1", "refseq_ac": "NP_001269238", "gene_names_uniprotkb": "CATSPER2", "gene_names_refseq": "CATSPER2", "protein_names_uniprotkb": "Cation channel sperm-associated protein 2; CatSper2", "protein_names_refseq": "cation channel sperm-associated protein 2 isoform 1; cation channel sperm-associated protein 2; sperm ion channel", "tax_id": 9606, "disease": "deafness-infertility syndrome (MONDO:MONDO:0012621)", "pathway": " (hsa:117155); (R-HSA-1300642)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;11595941;11675491;12825070;16740636;17098888;17227845;17347248;17460039;20144758;20648059;21412338;21412339;23530196;26989199;30629171;31844290;32387766;32938616;33141586;33968037;34405274;34509645;35022556;35051231;36215666;37996878;9452476", "class_list": "", "function": "Dispersed DNA variants underlie hearing loss in South Florida's minority population. Publication Status: Online-Only, [RefSeq, PubMed]; Disruption of CATSPER2 current is a significant factor causing idiopathic male infertility; the specific copy number variation disrupts one gene copy in the region 43894500-43950000 in chromosome 15, [RefSeq, PubMed]; Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel, that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte., [UniProtKB, PubMed, PubMed]; This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by GeneID:110006325. Related pseudogenes are found next to this locus on chromosome 15 and on chromosome 5. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NHT9;Q96P54;Q96P55", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005227 calcium-activated cation channel activity;GO:0005245 voltage-gated calcium channel activity", "go_cellular_component": "GO:0036128 CatSper complex;GO:0005886 plasma membrane;GO:0097228 sperm principal piece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0009566 fertilization;GO:0006816 calcium ion transport;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q96P56-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NT3-1", "uniprot_id": "GUCD1_HUMAN", "mass": 27207.0, "length": 240, "protein_name": "Protein GUCD1", "gene_name": "GUCD1", "organism": "Human", "refseq_name": "protein GUCD1 isoform a", "refseq_ac": "NP_001271180", "gene_names_uniprotkb": "GUCD1; C22orf13; LLN4", "gene_names_refseq": "C22orf13; GUCD1; LLN4", "protein_names_uniprotkb": "Protein GUCD1; Guanylyl cyclase domain-containing protein 1; Protein LLN4", "protein_names_refseq": "CG13760 gene product [Drosophila melanogaster] homolog; guanylyl cyclase domain-containing protein 1; protein GUCD1 isoform a; protein GUCD1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83606)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;18477386;23481700;24743017;27846572;27920218;28832583;28904123;29242379;29632711;30410026;30799589;31530632;32357974;32502341;32897882;34093574;35580925", "class_list": "", "function": "MiR-370 suppressed Hepatocellular carcinoma cell metastasis and epithelial-mesenchymal transition via regulating GUCD1. Erratum:[Yonsei Med J. 2019 Apr;60(4):402. doi: 10.3349/ymj.2019.60.4.402. PMID: 30900430], [RefSeq, PubMed]; The expression and function of a ubiquitous protein, GUCD1, were characterized, it might have a role in regulating normal and abnormal cell growth in the liver., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B5MCB8;B5MCL7;Q96Q79;Q9BU32", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0051591 response to cAMP;GO:0097421 liver regeneration", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96NT3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01111-1", "uniprot_id": "RASN_HUMAN", "mass": 21229.0, "length": 189, "protein_name": "GTPase NRas", "gene_name": "NRAS", "organism": "Human", "refseq_name": "GTPase NRas", "refseq_ac": "NP_002515", "gene_names_uniprotkb": "NRAS; HRAS1", "gene_names_refseq": "ALPS4; CMNS; N-ras; NCMS; NRAS1; NRAS; NS6; RALD1", "protein_names_uniprotkb": "GTPase NRas; 3.6.5.2; Transforming protein N-Ras", "protein_names_refseq": "GTPase NRas; N-ras protein part 4; neuroblastoma RAS viral (v-ras) oncogene homolog; proto-oncogene GTPase; transforming protein N-Ras; v-ras neuroblastoma RAS viral oncogene homolog", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); cardiomyopathy (Disease Ontology:DOID:0050700); myelodysplastic syndrome (Disease Ontology:DOID:0050908); Noonan syndrome 3 (Disease Ontology:DOID:0060581); Noonan syndrome 6 (Disease Ontology:DOID:0060584); RASopathy (Disease Ontology:DOID:0080690); autoimmune lymphoproliferative syndrome type 4 (Disease Ontology:DOID:0110117); epidermal nevus (Disease Ontology:DOID:0111162); large congenital melanocytic nevus (Disease Ontology:DOID:0111359); linear nevus sebaceous syndrome (Disease Ontology:DOID:0111530); intestinal cancer (Disease Ontology:DOID:10155); prostate cancer (Disease Ontology:DOID:10283); heart disease (Disease Ontology:DOID:114); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); leukemia (Disease Ontology:DOID:1240); cancer (Disease Ontology:DOID:162); melanoma (Disease Ontology:DOID:1909); kidney cancer (Disease Ontology:DOID:263); transitional cell carcinoma (Disease Ontology:DOID:2671); carcinoma (Disease Ontology:DOID:305); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); follicular thyroid carcinoma (Disease Ontology:DOID:3962); papillary thyroid carcinoma (Disease Ontology:DOID:3969); cervical cancer (Disease Ontology:DOID:4362); hepatocellular carcinoma (Disease Ontology:DOID:684); liver carcinoma (Disease Ontology:DOID:686); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); cholangitis (Disease Ontology:DOID:9446); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); neurocutaneous melanocytosis (MONDO:MONDO:0009578)", "pathway": " (hsa:4893); (R-HSA-112412); (R-HSA-1169092); (R-HSA-1236382); (R-HSA-1250196); (R-HSA-1250347); (R-HSA-1433557); (R-HSA-167044); (R-HSA-171007); (R-HSA-179812); (R-HSA-180336); (R-HSA-186763); (R-HSA-1963640); (R-HSA-210993); (R-HSA-2179392); (R-HSA-2424491); (R-HSA-2428933); (R-HSA-2871796); (R-HSA-375165); (R-HSA-442982); (R-HSA-5218921); (R-HSA-5621575); (R-HSA-5637810); (R-HSA-5654688); (R-HSA-5654693); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654704); (R-HSA-5654706); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5655253); (R-HSA-5655291); (R-HSA-5655302); (R-HSA-5655332); (R-HSA-5658442); (R-HSA-5673000); (R-HSA-5673001); (R-HSA-5674135); (R-HSA-5675221); (R-HSA-6798695); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802953); (R-HSA-6802955); (R-HSA-74751); (R-HSA-8849471); (R-HSA-8851805); (R-HSA-9026519); (R-HSA-9027284); (R-HSA-9028731); (R-HSA-9034864); (R-HSA-9607240); (R-HSA-9634285); (R-HSA-9634635); (R-HSA-9648002); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9664565); (R-HSA-9665348); (R-HSA-9665686); (R-HSA-9670439); (R-HSA-9673767); (R-HSA-9673770); (R-HSA-9703465); (R-HSA-9703648); (R-HSA-9753510); (R-HSA-9753512)", "pathway_count": 69, "publication_count": 933, "publication_id_list": 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"class_list": "", "function": "EIF4F controls ERK MAPK signaling in melanomas with BRAF and NRAS mutations., [RefSeq, PubMed]; Loss of Heterozygosity and Mutations in the RAS-ERK Pathway Genes in Tumor Cells of Various Loci in Multiple Myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; Signal transducer in the Ras-MAPK signaling pathway that regulates cell proliferation and survival (PubMed:30712867). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:30712867). Recognized by LZTR1 that mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (PubMed:40934300)., [UniProtKB, PubMed, PubMed]; The prominent pervasive oncogenic role and tissue specific permissiveness of RAS gene mutations. Publication Status: Online-Only, [RefSeq, PubMed]; This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 33, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14971;Q15104;Q15282", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.4.24.81;2.3.2.27;2.7.11.1;3.2.1.20;2.7.10.2;2.1.1.100;3.6.1.5;3.1.2.22;3.1.2.-;2.7.10.1;3.4.21.73;1.6.3.-;3.6.4.10;3.1.3.48;2.7.11.24;3.6.1.-;2.7.12.2;2.7.10.4;2.7.1.153;2.7.1.137;2.5.1.58;2.5.1.59;3.1.3.16;3.6.4.-;3.6.5.4;3.4.24.-;7.6.2.1;2.7.11.13;1.1.1.-;3.1.4.4;2.7.11.17;2.7.11.25;2.7.1.107;2.7.1.94;2.7.1.138;2.7.7.-;2.7.7.19;2.3.1.78;1.14.11.65;3.1.31.1;3.6.-.-;3.6.1.15;2.7.1.91;2.3.1.-;3.6.1.6;3.6.1.42;3.4.26.1;2.3.1.225", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0044877 protein-containing complex binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0000165 MAPK cascade;GO:0007265 Ras protein signal transduction;GO:0001938 positive regulation of endothelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 93.7, "record_id": "P01111-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95153-1", "uniprot_id": "RIMB1_HUMAN", "mass": 200051.0, "length": 1857, "protein_name": "Peripheral-type benzodiazepine receptor-associated protein 1", "gene_name": "TSPOAP1", "organism": "Human", "refseq_name": "peripheral-type benzodiazepine receptor-associated protein 1 isoform c", "refseq_ac": "NP_001248764", "gene_names_uniprotkb": "TSPOAP1; BZRAP1; KIAA0612; RBP1; RIMBP1", "gene_names_refseq": "BZRAP1; DYT22; PBR-IP; PRAX-1; PRAX1; RIM-BP1; RIMBP1; TSPOAP1", "protein_names_uniprotkb": "Peripheral-type benzodiazepine receptor-associated protein 1; PBR-IP; PRAX-1; Peripheral benzodiazepine receptor-interacting protein; RIM-BP1; RIMS-binding protein 1; TSPO-associated protein 1", "protein_names_refseq": "RIMS-binding protein 1; benzodiazapine receptor peripheral-associated protein 1; benzodiazepine receptor (peripheral) associated protein 1; peripheral benzodiazepine receptor-interacting protein; peripheral-type benzodiazepine receptor-associated protein 1 isoform c; peripheral-type benzodiazepine receptor-associated protein 1", "tax_id": 9606, "disease": "dystonia 22, juvenile-onset (Disease Ontology:DOID:0060966); dystonia 22, adult-onset (Disease Ontology:DOID:0060967)", "pathway": " (hsa:9256); (R-HSA-181429); (R-HSA-181430); (R-HSA-196108); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642)", "pathway_count": 7, "publication_count": 61, "publication_id_list": "10440375;10620514;11001057;11015561;11027560;11068039;11237011;11242046;11756489;12519779;1339386;15935055;16116111;16616430;17301226;17478680;17766642;17855024;17891149;17989281;18215623;18617632;19557195;23363473;23375655;24578174;25542846;25576301;25818881;26992070;2892215;2981667;3001071;3024157;30429286;30968963;31844290;3214421;32357974;32502341;32938616;33113427;33298915;33392160;33539324;34254858;34561969;35051231;35494241;36241641;7823026;8071310;8095030;8211186;8307574;8645003;9260930;9578606;9701566;9753324;9915832", "class_list": "", "function": "Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia., [RefSeq, PubMed]; Choroid Plexus Enlargement in Inflammatory Multiple Sclerosis: 3.0-T MRI and Translocator Protein PET Evaluation., [RefSeq, PubMed]; Long noncoding RNA TSPOAP1 antisense RNA 1 negatively modulates type I IFN signaling to facilitate influenza A virus replication., [RefSeq, PubMed]; NF-kappaB/miR-18a-3p and miR-4286/BZRAP1 axis may mediate carcinogenesis in Helicobacter pylori-Associated gastric cancer., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RIMBP1 is identified in humans., [RefSeq, PubMed]; Required for synaptic transmission regulation (PubMed:33539324). It probably controls the recruitment of voltage-gated calcium channels to the presynaptic membrane, and modulates neurotransmitter release., [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": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "O75111;Q8N5W3", "ec_number_list": "", "go_molecular_function": "GO:0030156 benzodiazepine receptor binding;GO:0099626 voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0044305 calyx of Held;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0046928 regulation of neurotransmitter secretion", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O95153-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UEW8-1", "uniprot_id": "STK39_HUMAN", "mass": 59474.0, "length": 545, "protein_name": "STE20/SPS1-related proline-alanine-rich protein kinase", "gene_name": "STK39", "organism": "Human", "refseq_name": "STE20/SPS1-related proline-alanine-rich protein kinase isoform 1", "refseq_ac": "NP_037365", "gene_names_uniprotkb": "STK39; PASK; SPAK", "gene_names_refseq": "DCHT; SPAK; STK39", "protein_names_uniprotkb": "STE20/SPS1-related proline-alanine-rich protein kinase; 2.7.11.1; DCHT; Serine/threonine-protein kinase 39; Ste-20-related kinase", "protein_names_refseq": "STE20/SPS1-related proline-alanine-rich protein kinase isoform 1; STE20/SPS1-related proline-alanine-rich protein kinase; STE20/SPS1-related proline/alanine-rich kinase; Ste20-like protein kinase; serine threonine kinase 39 (STE20/SPS1 homolog, yeast); serine/threonine-protein kinase 39; small intestine SPAK-like kinase; ste-20-related kinase", "tax_id": 9606, "disease": "Gitelman syndrome (Disease Ontology:DOID:0050450); pseudohypoaldosteronism (Disease Ontology:DOID:4479)", "pathway": " (hsa:27347)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "10980603;11237011;12740379;14988727;16083423;16263722;16382158;16669787;16832045;16950202;17081983;17190791;17322306;17487921;18088087;18270262;18452278;18510355;19413330;19415658;19608861;19633012;19651622;19665974;19690332;20068231;20385770;20463172;21321328;21406692;23186163;23301498;23481700;24715725;24722188;25576301;26992070;28832583;28834231;29242379;29393594;29493099;29557506;30429286;31020640;31844290;32157095;32387766;32502341;32897882;32938616;32983136;33123756;33537174;33968037;33981976;34019948;34087483;34171305;34185709;34289367;34678896;34726826;35051231;35580925;36241641;36284347;36538242;40307207;40914422", "class_list": "", "function": "CircSTK39 suppresses the proliferation and invasion of bladder cancer by regulating the miR-135a-5p/NR3C2-mediated epithelial-mesenchymal transition signaling pathway., [RefSeq, PubMed]; Effector serine/threonine-protein kinase component of the WNK-SPAK/OSR1 kinase cascade, which is involved in various processes, such as ion transport, response to hypertonic stress and blood pressure (PubMed:16669787, PubMed:18270262, PubMed:21321328, PubMed:34289367). Specifically recognizes and binds proteins with a RFXV motif (PubMed:16669787, PubMed:21321328). Acts downstream of WNK kinases (WNK1, WNK2, WNK3 or WNK4): following activation by WNK kinases, catalyzes phosphorylation of ion cotransporters, such as SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A3/NCC, SLC12A5/KCC2 or SLC12A6/KCC3, regulating their activity (PubMed:21321328). Mediates regulatory volume increase in response to hyperosmotic stress by catalyzing phosphorylation of ion cotransporters SLC12A1/NKCC2, SLC12A2/NKCC1 and SLC12A6/KCC3 downstream of WNK1 and WNK3 kinases (PubMed:12740379, PubMed:16669787, PubMed:21321328). Phosphorylation of Na-K-Cl cotransporters SLC12A2/NKCC1 and SLC12A2/NKCC1 promote their activation and ion influx; simultaneously, phosphorylation of K-Cl cotransporters SLC12A5/KCC2 and SLC12A6/KCC3 inhibit their activity, blocking ion efflux (PubMed:16669787, PubMed:19665974, PubMed:21321328). Acts as a regulator of NaCl reabsorption in the distal nephron by mediating phosphorylation and activation of the thiazide-sensitive Na-Cl cotransporter SLC12A3/NCC in distal convoluted tubule cells of kidney downstream of WNK4 (PubMed:18270262). Mediates the inhibition of SLC4A4, SLC26A6 as well as CFTR activities (By similarity). Phosphorylates RELT (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Roles in phosphorylation and activation of the Na-K-Cl cotransporter (NKCC1), [RefSeq, PubMed]; Structures of the Human SPAK and OSR1 Conserved C-Terminal (CCT) Domains., [RefSeq, PubMed]; This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]., [RefSeq]; Variant rs6749447 (T > G) in the serine threonine kinase gene is associated with cardiovascular complications, the Tampere adult population cardiovascular risk study., [RefSeq, PubMed]; WNK1 and SPAK/OSR1 mediate the hypotonic stress signaling pathway to cation-chloride-coupled cotransporters, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O14774;Q53S90;Q53SL7;Q53SS1;Q9UER4;X5D9C8", "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:0019870 potassium channel inhibitor activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0071476 cellular hypotonic response;GO:1901380 negative regulation of potassium ion transmembrane transport;GO:1990869 cellular response to chemokine;GO:0034763 negative regulation of transmembrane transport;GO:0030644 intracellular chloride ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9UEW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75953-3", "uniprot_id": "DNJB5_HUMAN", "mass": 39133.0, "length": 348, "protein_name": "DnaJ homolog subfamily B member 5", "gene_name": "DNAJB5", "organism": "Human", "refseq_name": "dnaJ homolog subfamily B member 5 isoform 1", "refseq_ac": "NP_001128477", "gene_names_uniprotkb": "DNAJB5; HSC40", "gene_names_refseq": "DNAJB5; Hsc40", "protein_names_uniprotkb": "DnaJ homolog subfamily B member 5; Heat shock protein Hsp40-2; Heat shock protein Hsp40-3; Heat shock protein cognate 40; Hsc40", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily B, member 5; dnaJ homolog subfamily B member 5 isoform 1; dnaJ homolog subfamily B member 5; heat shock cognate 40; heat shock protein Hsp40-2; heat shock protein Hsp40-3; heat shock protein cognate 40", "tax_id": 9606, "disease": "congenital myopathy 21 (Disease Ontology:DOID:0081353); autosomal dominant limb-girdle muscular dystrophy type 1 (Disease Ontology:DOID:0110305)", "pathway": " (hsa:25822)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "10570961;23481700;24714562;24715725;25418920;25645385;25892735;26375851;26728094;27846572;28832583;29242379;29493099;29508533;29557506;29786170;30410026;30429286;30524438;30833945;31154438;31844290;31848261;32157095;32161166;32488085;32502341;32897882;32938616;32983136;33141586;33191150;33592498;33717175;33968037;33981976;34932366;35051231;35580925;36284347;37938771", "class_list": "", "function": "Critical role of zebrafish dnajb5 in myocardial proliferation and regeneration., [RefSeq, PubMed]; This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins. The encoded protein contains an N-terminal DNAJ domain and a C-terminal substrate binding domain but lacks the cysteine-rich domain found in other DNAJ family members. In mice, a multi-protein complex containing this protein, thioredoxin 1, and histone deacetylase 4, serves as a master negative regulator of cardiac hypertrophy. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B3KN14;B4DSA6;J3KQM9;J3KR08;Q5T656;Q8TDR7;Q96EM4", "ec_number_list": "", "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006457 protein folding;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "O75953-3", "record_type": "protein" }, { "uniprot_canonical_ac": "P62491-1", "uniprot_id": "RB11A_HUMAN", "mass": 24394.0, "length": 216, "protein_name": "Ras-related protein Rab-11A", "gene_name": "RAB11A", "organism": "Human", "refseq_name": "ras-related protein Rab-11A isoform 2", "refseq_ac": "NP_001193765", "gene_names_uniprotkb": "RAB11A; RAB11", "gene_names_refseq": "RAB11A; YL8", "protein_names_uniprotkb": "Ras-related protein Rab-11A; 3.6.5.2; Rab-11; YL8", "protein_names_refseq": "RAB 11A, member oncogene family; rab-11; ras-related protein Rab-11A isoform 2; ras-related protein Rab-11A", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); intestinal cancer (Disease Ontology:DOID:10155)", "pathway": " (hsa:8766); (R-HSA-1445148); (R-HSA-432040); (R-HSA-5620912); (R-HSA-5620916); (R-HSA-8854214); (R-HSA-8873719)", "pathway_count": 7, "publication_count": 306, "publication_id_list": "10077598;10202141;10649434;11034202;11076974;11141079;11237011;11389151;11447212;11495908;11675392;11786538;11968001;11994279;12194985;12221131;12470645;12801959;1373524;14514735;14592814;14701836;1510932;15158452;15173169;15181150;15280022;15304524;1534149;15601896;15689490;15703994;15728366;15837192;15919790;15971998;16034420;16038802;16055087;16120822;16136078;16148947;16155582;16357211;16395330;16401880;16407073;16407156;16431365;1648736;16537653;16782012;16880201;16905101;17007872;17030804;1704119;17082457;17114793;17156409;17178220;17229837;17369524;17411337;17462998;17574030;17628206;17646400;17658474;17719545;17901050;17956946;17995453;18037885;18199687;18202181;18319245;18329369;18466115;18511455;18532927;18678926;18685082;18694559;18801063;19004860;19013499;19017632;19081074;19144687;19153612;19170255;19252894;19297529;19383790;19454479;19542231;19574955;19603039;19901323;19940019;20026645;20028792;20068231;20083215;20095038;20116244;20190753;20230748;20308558;20363736;20399632;20404108;20558667;20631154;20701589;20837646;20890297;20937701;21255211;21273506;21282656;21383079;21422230;21454505;21454690;21458671;21548880;21550243;21565611;21620453;21725307;21775626;21792235;21907143;21976701;22179047;22188018;22219378;22389062;22420621;22433857;22613832;22653444;22694141;22762500;22795129;22854040;22898188;22983554;23019362;23141531;23141541;23253480;23348840;23351793;23400999;23530209;23535298;23562278;23567335;23747070;23769972;23789104;23945166;24023390;24053599;24089205;24231678;24296415;24469809;24715725;24982133;25047611;25313408;25341920;25418920;25502872;2550440;25548167;25576301;25645385;25673879;25892735;26032412;26154972;26258637;26506309;26969162;26992070;27397612;27600516;27846572;27862975;27920218;28017832;28384198;28514659;28696251;28832583;28904123;29242379;29331515;29393594;29508533;29514088;29514919;29557506;29632046;29786170;2991279;30217979;30410026;30429286;30444036;3049610;30524438;30626607;30779550;31020640;3104109;31204173;31217245;31222486;31308374;31844290;31848261;31937595;32157095;32344433;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32974215;32983136;33043033;33123756;33141586;33298915;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36052645;36215666;36241641;36284347;36604604;37938771;38072191;38665916;38841112;38887984;39181022;4065330;7503232;7510718;7526388;7535000;7538665;7678419;7957092;7991565;8063828;8094051;8140421;8164745;8349690;8375503;8513495;8621513;8631982;8662963;8664345;8683474;8836150;8855281;9227644;9369468;9374639;9374640;9662449;9756892;9819391;9829975", "class_list": "", "function": "Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder., [RefSeq, PubMed]; Coxiella burnetii-containing vacuoles interact with host recycling endosomal proteins Rab11a and Rab35 for vacuolar expansion and bacterial growth. Publication Status: Online-Only, [RefSeq, PubMed]; Rab11 suppresses head and neck carcinoma by regulating EGFR and EpCAM exosome secretion., [RefSeq, PubMed]; Stress-induced Rab11a-exosomes induce amphiregulin-mediated cetuximab resistance in colorectal cancer. Erratum:[J Extracell Vesicles. 2025 May;14(5):e70081. doi: 10.1002/jev2.70081. PMID: 40314086], [RefSeq, PubMed]; The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]., [RefSeq]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB25 regulates epithelial cell differentiation, proliferation and survival, thereby playing key roles in tumorigenesis. Promotes invasive migration of cells in which it functions to localize and maintain integrin alpha-V/beta-1 at the tips of extending pseudopodia. Involved in the regulation of epithelial morphogenesis through the control of CLDN4 expression and localization at tight junctions. May selectively regulate the apical recycling pathway. Together with MYO5B regulates transcytosis., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 14, "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": "B2R4B6;B4DT13;P24410;Q5TZN9;Q9JLX1", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;2.7.11.21;3.6.1.5;2.7.11.1;2.7.11.22;2.7.11.23;3.6.4.10;2.7.11.11;3.6.1.-;2.7.11.26;2.5.1.60;3.6.4.-;3.6.5.4;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:0008017 microtubule binding;GO:0019905 syntaxin binding;GO:0031489 myosin V binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098837 postsynaptic recycling endosome;GO:0000139 Golgi membrane;GO:0000922 spindle pole;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:1903438 positive regulation of mitotic cytokinetic process;GO:1990182 exosomal secretion;GO:0051223 regulation of protein transport;GO:0098887 neurotransmitter receptor transport, endosome to postsynaptic membrane", "synthesized_glycan_count": 0, "hit_score": 30.9, "record_id": "P62491-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49750-4", "uniprot_id": "YLPM1_HUMAN", "mass": 241645.0, "length": 2146, "protein_name": "YLP motif-containing protein 1", "gene_name": "YLPM1", "organism": "Human", "refseq_name": "YLP motif-containing protein 1 isoform 1", "refseq_ac": "NP_062535", "gene_names_uniprotkb": "YLPM1; C14orf170; ZAP3", "gene_names_refseq": "C14orf170; PPP1R169; YLPM1; ZAP113; ZAP3", "protein_names_uniprotkb": "YLP motif-containing protein 1; Nuclear protein ZAP3; ZAP113", "protein_names_refseq": "YLP motif-containing protein 1 isoform 1; YLP motif-containing protein 1; nuclear protein ZAP3; protein phosphatase 1, regulatory subunit 169", "tax_id": 9606, "disease": "", "pathway": " (hsa:56252)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "17081983;17890166;18220336;18452278;18669648;19664995;19690332;20058876;20068231;20305658;21406692;23186163;23481700;24129315;25114211;25218447;25755297;25772364;26375851;26768311;27397612;27600516;27655845;27862975;27920218;28063628;28514659;28832583;28834231;29242379;29351928;29493099;29508533;29557506;29632711;29786170;29789417;30059200;30192525;30315122;30379171;31217245;31492838;31844290;32119511;32157095;32357974;32387766;32488085;32502341;32938616;32938750;32983136;33141586;33214551;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34211107;34509645;34561969;34725712;34846842;35051231;35132862;35138101;35254053;35289036;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38665916;39302247;39531497;39534244;40136647;40307207;40596516;7596406", "class_list": "", "function": "Plays a role in the reduction of telomerase activity during differentiation of embryonic stem cells by binding to the core promoter of TERT and controlling its down-regulation., [UniProtKB]; ZAP3 is a putative nucleoside kinase that targets protein phosphatase-1 through its highly conserved carboxy-terminal RVRW sequence., [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": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 63, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "P49752;Q96I64;Q9P1V7", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck", "go_biological_process": "GO:0032204 regulation of telomere maintenance;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P49750-4", "record_type": "protein" }, { "uniprot_canonical_ac": "O95747-1", "uniprot_id": "OXSR1_HUMAN", "mass": 58022.0, "length": 527, "protein_name": "Serine/threonine-protein kinase OSR1", "gene_name": "OXSR1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase OSR1", "refseq_ac": "NP_005100", "gene_names_uniprotkb": "OXSR1; KIAA1101; OSR1", "gene_names_refseq": "OSR1; OXSR1", "protein_names_uniprotkb": "Serine/threonine-protein kinase OSR1; 2.7.11.1; Oxidative stress-responsive 1 protein", "protein_names_refseq": "oxidative stress responsive 1; oxidative stress-responsive 1 protein; serine/threonine-protein kinase OSR1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9943)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;10083736;11237011;12386165;14707132;15302935;15345747;16083423;16389068;16669787;16832045;17081983;17190791;17344846;17525332;17721439;18270262;18318008;18452278;18669648;19413330;19415658;19651622;19664994;19665974;19690332;20058876;20068230;20068231;20166139;21321328;21406692;22052202;22223895;22361696;22989884;23186163;23386621;24191005;24275569;25362046;27400149;27600516;27846572;27862975;28063628;28688764;28904123;29242379;29557506;29581290;29632046;30315122;30429286;30484775;30620550;31844290;32157095;32161166;32350084;32357974;32488085;32938616;32983136;33214551;33592498;33717175;33912179;33968037;34019948;34171305;34289367;34357683;34433824;34561969;34932366;34983467;35051231;35580925;36010968;36215666;36241641;36284347;38665916;40596516;40914422", "class_list": "", "function": "Association of genetic variants of oxidative stress responsive kinase 1 (OXSR1) with asthma exacerbations in non-smoking asthmatics. Publication Status: Online-Only, [RefSeq, PubMed]; Effector serine/threonine-protein kinase component of the WNK-SPAK/OSR1 kinase cascade, which is involved in various processes, such as ion transport, response to hypertonic stress and blood pressure (PubMed:16669787, PubMed:18270262, PubMed:21321328, PubMed:34289367). Specifically recognizes and binds proteins with a RFXV motif (PubMed:16669787, PubMed:17721439, PubMed:21321328). Acts downstream of WNK kinases (WNK1, WNK2, WNK3 or WNK4): following activation by WNK kinases, catalyzes phosphorylation of ion cotransporters, such as SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A3/NCC, SLC12A5/KCC2 or SLC12A6/KCC3, regulating their activity (PubMed:17721439). Mediates regulatory volume increase in response to hyperosmotic stress by catalyzing phosphorylation of ion cotransporters SLC12A1/NKCC2, SLC12A2/NKCC1 and SLC12A6/KCC3 downstream of WNK1 and WNK3 kinases (PubMed:16669787, PubMed:21321328). Phosphorylation of Na-K-Cl cotransporters SLC12A2/NKCC1 and SLC12A2/NKCC1 promote their activation and ion influx; simultaneously, phosphorylation of K-Cl cotransporters SLC12A5/KCC2 and SLC12A6/KCC3 inhibit their activity, blocking ion efflux (PubMed:16669787, PubMed:19665974, PubMed:21321328). Acts as a regulator of NaCl reabsorption in the distal nephron by mediating phosphorylation and activation of the thiazide-sensitive Na-Cl cotransporter SLC12A3/NCC in distal convoluted tubule cells of kidney downstream of WNK4 (PubMed:18270262). Also acts as a regulator of angiogenesis in endothelial cells downstream of WNK1 (PubMed:23386621, PubMed:25362046). Acts as an activator of inward rectifier potassium channels KCNJ2/Kir2.1 and KCNJ4/Kir2.3 downstream of WNK1: recognizes and binds the RXFXV/I variant motif on KCNJ2/Kir2.1 and KCNJ4/Kir2.3 and regulates their localization to the cell membrane without mediating their phosphorylation (PubMed:29581290). Phosphorylates RELL1, RELL2 and RELT (PubMed:16389068, PubMed:28688764). Phosphorylates PAK1 (PubMed:14707132). Phosphorylates PLSCR1 in the presence of RELT (PubMed:22052202)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interacts with cation chloride cotransporters, [RefSeq, PubMed]; Isolation and characterization of OSR1 (oxidative stress-responsive 1), one of two human Fray homologs. OSR1 is a 58-kDa protein of 527 amino acids that is widely expressed in mammalian tissues and cell lines, [RefSeq, PubMed]; The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [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": 12, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 10, "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": "Q3LR53;Q7Z501;Q9UPQ1", "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:0019870 potassium channel inhibitor activity;GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0071476 cellular hypotonic response;GO:1901380 negative regulation of potassium ion transmembrane transport;GO:1990869 cellular response to chemokine;GO:0007231 osmosensory signaling pathway;GO:0006468 protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "O95747-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6A4-1", "uniprot_id": "CFA20_HUMAN", "mass": 22774.0, "length": 193, "protein_name": "Cilia- and flagella-associated protein 20", "gene_name": "CFAP20", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 20", "refseq_ac": "NP_037374", "gene_names_uniprotkb": "CFAP20; BUG22; C16orf80; GTL3", "gene_names_refseq": "BUG22; C16orf80; CFAP20; EVORF; GTL3; RP107; fSAP23", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 20; Basal body up-regulated protein 22; Transcription factor IIB", "protein_names_refseq": "UPF0468 protein C16orf80; basal body up-regulated protein 22; cilia- and flagella-associated protein 20; flagellar associated protein 20 homolog; functional spliceosome-associated protein 23; gene trap locus 3; transcription factor IIB", "tax_id": 9606, "disease": "", "pathway": " (hsa:29105)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;20118210;22645359;24414207;24714562;24715725;25505266;25576301;25645385;25880248;26154972;26728094;26992070;27397612;27600516;27846572;28218747;28832583;28834231;28904123;29242379;29437277;29557506;29786170;29789417;30315122;30410026;30429286;30779550;31154438;31530632;31844290;31848261;32157095;32161166;32357974;33717175;33936100;34019948;34561969;35051231;35580925;36191189;36284347;37217939", "class_list": "", "function": "Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility (PubMed:24414207). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Involved in the regulation of the size and morphology of cilia (PubMed:24414207). Required for axonemal microtubules polyglutamylation (PubMed:24414207)., [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": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005929 cilium;GO:0031514 motile cilium;GO:0070062 extracellular exosome;GO:0036126 sperm flagellum", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly;GO:2000253 positive regulation of feeding behavior;GO:2000147 positive regulation of cell motility;GO:0018095 protein polyglutamylation", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9Y6A4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60328-1", "uniprot_id": "KR123_HUMAN", "mass": 9947.0, "length": 96, "protein_name": "Keratin-associated protein 12-3", "gene_name": "KRTAP12-3", "organism": "Human", "refseq_name": "keratin-associated protein 12-3", "refseq_ac": "NP_941970", "gene_names_uniprotkb": "KRTAP12-3; KAP12.3; KRTAP12.3", "gene_names_refseq": "KRTAP12-3; KRTAP12.3", "protein_names_uniprotkb": "Keratin-associated protein 12-3; High sulfur keratin-associated protein 12.3; Keratin-associated protein 12.3", "protein_names_refseq": "high sulfur keratin-associated protein 12.3; keratin-associated protein 12-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:386683); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "14962103;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]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P60328-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NS64-1", "uniprot_id": "RPRM_HUMAN", "mass": 11774.0, "length": 109, "protein_name": "Protein reprimo", "gene_name": "RPRM", "organism": "Human", "refseq_name": "protein reprimo", "refseq_ac": "NP_062819", "gene_names_uniprotkb": "RPRM", "gene_names_refseq": "REPRIMO; RPRM", "protein_names_uniprotkb": "Protein reprimo", "protein_names_refseq": "candidate mediator of the p53 dependent G2 arrest; protein reprimo; reprimo, TP53 dependant G2 arrest mediator candidate; reprimo, TP53 dependent G2 arrest mediator candidate", "tax_id": 9606, "disease": "", "pathway": " (hsa:56475)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10.1038/emboj.2013.79;10930422;16303743;16752411;18197409;18829507;23584533;28809778;29401170;29941787;31844290;34357683;35549646", "class_list": "", "function": "Aberrant hypermethylation of Reprimo is high in primary gastric cancer as well as in pair plasma samples. In plasma from asymptomatic controls, Reprimo is infrequently methylated. Reprimo is a potential biomarker for early detection of gastric cancer., [RefSeq, PubMed]; An association between the Reprimo 824G>C heterozygote and diverticular disease may exist on the basis of deviation from Hardy-Weinberg equilibrium. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Data suggest that ERalpha expression in breast cancer may affect the DNA methylation of CpG-island in the RPRM gene. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulated Reprimo by LINC00467 participates in the growth and metastasis of gastric cancer., [RefSeq, PubMed]; May be involved in the regulation of p53-dependent G2 arrest of the cell cycle. Seems to induce cell cycle arrest by inhibiting CDK1 activity and nuclear translocation of the CDC2 cyclin B1 complex (By similarity)., [UniProtKB]; Rawing on embryonic and adult expression patterns, we address the potential relevance of RPRM and RPRML in cancer. Active investigation or analytical research in the coming years should contribute to novel translational applications of this poorly understood gene family as potential biomarkers and development of novel cancer therapies. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Reprimo methylation was found more frequently in malignant intraductal papillary mucinous neoplasm (IPMN), suggesting reprimo methylation is involved in malignant transformation of IPMNs., [RefSeq, PubMed]; Results suggest that aberrant methylation of Reprimo is a common event in pancreatic carcinogenesis and is associated with genetic instability., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R4V1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0007346 regulation of mitotic cell cycle;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9NS64-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q07108-1", "uniprot_id": "CD69_HUMAN", "mass": 22559.0, "length": 199, "protein_name": "Early activation antigen CD69", "gene_name": "CD69", "organism": "Human", "refseq_name": "early activation antigen CD69", "refseq_ac": "NP_001772", "gene_names_uniprotkb": "CD69; CLEC2C", "gene_names_refseq": "AIM; BL-AC/P26; CD69; CLEC2C; EA1; GP32/28; MLR-3", "protein_names_uniprotkb": "Early activation antigen CD69; AIM; Activation inducer molecule; BL-AC/P26; C-type lectin domain family 2 member C; EA1; Early T-cell activation antigen p60; GP32/28; Leukocyte surface antigen Leu-23; MLR-3", "protein_names_refseq": "C-type lectin domain family 2, member C; CD69 antigen (p60, early T-cell activation antigen); activation inducer molecule (AIM/CD69); early T-cell activation antigen p60; early activation antigen CD69; early lymphocyte activation antigen; leukocyte surface antigen Leu-23", "tax_id": 9606, "disease": "", "pathway": " (hsa:969)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11036086;11101293;18959746;24752896;26296369;29242379;29314611;29351928;29632711;29671580;30626607;32350084;34357683;34433824;34841721;35930205;36854451;37039481;37156819;37715025;8026529;8100776;8340758;8496594", "class_list": "glycogene", "function": "CD69 serves as a potential diagnostic and prognostic biomarker for hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Cancer cell-derived CD69 induced under lipid and oxygen starvation promotes ovarian cancer progression through fibronectin., [RefSeq, PubMed]; The heterogeneity of tumour immune microenvironment revealing the CRABP2/CD69 signature discriminates distinct clinical outcomes in breast cancer., [RefSeq, PubMed]; This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]., [RefSeq]; Transmembrane protein expressed mainly on T-cells resident in mucosa that plays an essential role in immune cell homeostasis. Rapidly expressed on the surface of platelets, T-lymphocytes and NK cells upon activation by various stimuli, such as antigen recognition or cytokine signaling, stimulates different signaling pathways in different cell types (PubMed:24752896, PubMed:26296369, PubMed:35930205). Negatively regulates Th17 cell differentiation through its carbohydrate dependent interaction with galectin-1/LGALS1 present on immature dendritic cells (PubMed:24752896). Association of CD69 cytoplasmic tail with the JAK3/STAT5 signaling pathway regulates the transcription of RORgamma/RORC and, consequently, differentiation toward the Th17 lineage (By similarity). Also acts via the S100A8/S100A9 complex present on peripheral blood mononuclear cells to promote the conversion of naive CD4 T-cells into regulatory T-cells (PubMed:26296369). Acts as an oxidized low-density lipoprotein (oxLDL) receptor in CD4 T-lymphocytes and negatively regulates the inflammatory response by inducing the expression of PDCD1 through the activation of NFAT (PubMed:35930205). Participates in adipose tissue-derived mesenchymal stem cells (ASCs)-mediated protection against P.aeruginosa infection. Mechanistically, specifically recognizes P.aeruginosa to promote ERK1 activation, followed by granulocyte-macrophage colony-stimulating factor (GM-CSF) and other inflammatory cytokines secretion (PubMed:34841721). In eosinophils, induces IL-10 production through the ERK1/2 pathway (By similarity). Negatively regulates the chemotactic responses of effector lymphocytes and dendritic cells (DCs) to sphingosine 1 phosphate/S1P by acting as a S1PR1 receptor agonist and facilitating the internalization and degradation of the receptor (PubMed:37039481)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 249, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding;GO:0030246 carbohydrate binding;GO:0140313 molecular sequestering activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0050728 negative regulation of inflammatory response;GO:0071466 cellular response to xenobiotic stimulus;GO:2000405 negative regulation of T cell migration;GO:2000329 negative regulation of T-helper 17 cell lineage commitment", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q07108-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60831-1", "uniprot_id": "PRAF2_HUMAN", "mass": 19258.0, "length": 178, "protein_name": "PRA1 family protein 2", "gene_name": "PRAF2", "organism": "Human", "refseq_name": "PRA1 family protein 2", "refseq_ac": "NP_009144", "gene_names_uniprotkb": "PRAF2; JM4", "gene_names_refseq": "JM4; PRAF2; Yip6a", "protein_names_uniprotkb": "PRA1 family protein 2", "protein_names_refseq": "Jena-Muenchen 4; PRA1 family protein 2", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:11230)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;15757671;16472945;16481131;17975142;18395978;26154972;29242379;31200670;31844290;32387766;32938616;32983136;33592498;37217939;38139265;38665916", "class_list": "", "function": "CCR5-interacting PRAF2 protein is expressed in several human tissues with a possible function in ER/Golgi transport and vesicular traffic., [RefSeq, PubMed]; Control of CCR5 Cell-Surface Targeting by the PRAF2 Gatekeeper. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in ER/Golgi transport and vesicular traffic. Plays a proapoptotic role in cerulenin-induced neuroblastoma apoptosis., [UniProtKB, PubMed, PubMed]; PRAF2 (JM4) is CCR5-interacting protein, which is suggested to function in trafficking and membrane localisation of the receptor., [RefSeq, PubMed]; PRAF2 could be used as a potential prognostic biomarker and represent a potential therapeutic target for ESCC. Publication Status: Online-Only, [RefSeq, PubMed]; PRAF2 has a role in progression of neuroblastoma, [RefSeq, PubMed]; The expression of PRAF2 in specific regions of the brain including SVs suggest an important physiological function for this novel protein, possibly by participating in multiple aspects of SV maturation, transport, and signal transmission., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RD20", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0016020 membrane;GO:0098794 postsynapse;GO:0010008 endosome membrane", "go_biological_process": "GO:0015031 protein transport;GO:0015813 L-glutamate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "O60831-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00194-1", "uniprot_id": "RB27B_HUMAN", "mass": 24608.0, "length": 218, "protein_name": "Ras-related protein Rab-27B", "gene_name": "RAB27B", "organism": "Human", "refseq_name": "ras-related protein Rab-27B", "refseq_ac": "NP_004154", "gene_names_uniprotkb": "RAB27B", "gene_names_refseq": "C25KG; RAB27B", "protein_names_uniprotkb": "Ras-related protein Rab-27B; 3.6.5.2; C25KG", "protein_names_refseq": "ras-related protein Rab-27B", "tax_id": 9606, "disease": "platelet storage pool deficiency (Disease Ontology:DOID:2223)", "pathway": " (hsa:5874); (R-HSA-114608); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 4, "publication_count": 226, "publication_id_list": "10818110;10990452;11038176;11141079;11178108;11179213;11237011;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;1435334;14630798;15096524;15138286;1516130;15247254;15297306;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18532927;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19603039;19620288;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21775604;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23640497;23645161;23678941;23684622;23713133;23839779;24023390;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;2507536;25341920;25343031;25472813;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;28411811;29242379;29437277;29557506;30771381;32357974;33968037;34185709;37077938;37317963;37641372;38036630;6457647;7688123;7911226;7957092;7991565;8144603;8164745;8349690;8375503;8408203;8467233;8513495;8522602;8631982;8662963;8836150;8863739;9020086;9020161;9030515;9066979;9136770;9323142;9590177;9733780", "class_list": "", "function": "Chromosomal mapping and gene structure of the RAB27B gene., [RefSeq, PubMed]; RAB27B Drives a Cancer Stem Cell Phenotype in NSCLC Cells Through Enhanced Extracellular Vesicle Secretion. Publication Status: Online-Only, [RefSeq, PubMed]; RAB27B controls palmitoylation-dependent NRAS trafficking and signaling in myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; RAB27B-regulated exosomes mediate LSC maintenance via resistance to senescence and crosstalk with the microenvironment., [RefSeq, PubMed]; Rab27b promotes endometriosis by enhancing invasiveness of ESCs and promoting angiogenesis., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:21775604, PubMed:30771381). RAB27B regulates homeostasis of late endocytic pathway, including endosomal positioning, maturation and secretion (PubMed:30771381). Plays a role in NTRK2/TRKB axonal anterograde transport by facilitating the association of NTRK2/TRKB with KLC1 (PubMed:21775604). May be involved in targeting uroplakins to urothelial apical membranes (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "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": "B2RAB0;Q9BZB6", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;2.5.1.60;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019904 protein domain specific binding;GO:0046872 metal ion binding;GO:0019003 GDP binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0030141 secretory granule;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0071985 multivesicular body sorting pathway;GO:0099641 anterograde axonal protein transport;GO:0006887 exocytosis;GO:0045921 positive regulation of exocytosis;GO:0048488 synaptic vesicle endocytosis", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "O00194-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75643-1", "uniprot_id": "U520_HUMAN", "mass": 244508.0, "length": 2136, "protein_name": "U5 small nuclear ribonucleoprotein 200 kDa helicase", "gene_name": "SNRNP200", "organism": "Human", "refseq_name": "U5 small nuclear ribonucleoprotein 200 kDa helicase", "refseq_ac": "NP_054733", "gene_names_uniprotkb": "SNRNP200; ASCC3L1; BRR2; HELIC2; KIAA0788", "gene_names_refseq": "ASCC3L1; BRR2; HELIC2; RP33; SNRNP200; U5-200KD", "protein_names_uniprotkb": "U5 small nuclear ribonucleoprotein 200 kDa helicase; 3.6.4.13; Activating signal cointegrator 1 complex subunit 3-like 1; BRR2 homolog; U5 snRNP-specific 200 kDa protein; U5-200KD", "protein_names_refseq": "BRR2 homolog; U5 small nuclear ribonucleoprotein 200 kDa helicase; U5 snRNP-specific 200 kDa protein; activating signal cointegrator 1 complex subunit 3-like 1; bad response to refrigeration 2 homolog; small nuclear ribonucleoprotein 200kDa (U5); small nuclear ribonucleoprotein, U5 200kDa subunit", "tax_id": 9606, "disease": "retinitis pigmentosa 33 (Disease Ontology:DOID:0110366); retinitis pigmentosa (Disease Ontology:DOID:10584)", "pathway": " (hsa:23020); (R-HSA-72163); (R-HSA-72165); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 264, "publication_id_list": "10207048;10882114;11014198;11101529;11233976;11237011;11333026;11607023;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;15118850;15302935;16314458;16723661;16809785;16959974;17074750;17081983;17095540;17145369;17322306;17332742;17606899;17940139;18318008;18322460;18452278;18593880;18669648;18691976;18707149;18767875;18991276;19007248;19052544;19103666;19165350;19367720;19413330;19415658;19536130;19608861;19651622;19664994;19690332;19691289;19710410;19878916;20058876;20068231;20112406;20166139;20423332;20980672;21136679;21406692;21536652;21618346;2176635;21911577;22110043;22121020;22365833;22645359;22869377;22959432;22961380;23029027;23045696;23186163;23222130;23236153;23301498;23345524;23481700;23887765;24196718;24275569;24304693;24319334;24366607;24448447;24714562;24715725;24737827;24914973;2524422;25418920;25555158;25576301;2558966;25645385;25802875;25810538;25880248;25892735;26092250;26154972;26375851;26385511;26420826;26728094;26758079;26811146;26853435;26912367;26969736;26992070;27108190;27377154;27397612;27459055;27510544;27683217;27846572;27862975;27920218;28062851;28076346;28228285;28502770;28514659;28781166;28832583;28904123;29242379;29301961;29317506;29351928;29360106;29361316;29393594;29437277;29493099;29557506;29632046;2963332;29786170;29902443;30315122;30315277;30379171;30410026;30429286;30484775;30524438;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31092671;31154438;31217245;31222486;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32522876;32897882;32938616;32983136;33043033;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33465208;33509932;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34093574;34171305;34185709;34211107;34229054;34301950;34357683;34405274;34509645;34561969;34725712;34822310;34932366;35051231;35083852;35188580;35215846;35241646;35251023;35289036;35318648;35385551;35561310;35580925;35705054;36010968;36215666;36241641;36284347;36581221;37217939;3757028;37938771;38517341;38605034;38665916;39302247;39531497;40307207;40596516;40914422;8566756;8608946;8670905;8835860;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome (PubMed:35241646). Plays a role in pre-mRNA splicing as a core component of precatalytic, catalytic and postcatalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:29301961, PubMed:29360106, PubMed:29361316, PubMed:30315277, PubMed:30705154, PubMed:30728453). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5 -splice-site selection causing tissue-specific defects. Publication Status: Online-Only, [RefSeq, PubMed]; Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]., [RefSeq]; Tracing Allostery in the Spliceosome Ski2-like RNA Helicase Brr2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 16, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "O94884;Q6NZY0;Q6PX59;Q8NBE6;Q96IF2;Q9H7S0", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;2.3.2.27;5.2.1.8;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.3.1;3.9.1.1;4.2.99.18;5.6.1.6;5.6.2.3;3.1.13.-;2.7.7.48;2.7.7.6;3.6.4.12;3.4.21.53;5.6.2.5;2.7.7.19;3.1.-.-;3.6.5.-;7.6.2.1;2.7.11.1;7.2.2.-;3.4.19.12;5.6.2.-;2.3.2.-;3.6.1.15;3.1.4.-;3.6.-.-;2.7.1.78;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;3.1.27.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0004386 helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0005681 spliceosomal complex;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0001649 osteoblast differentiation;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "O75643-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BVA1-1", "uniprot_id": "TBB2B_HUMAN", "mass": 49953.0, "length": 445, "protein_name": "Tubulin beta-2B chain", "gene_name": "TUBB2B", "organism": "Human", "refseq_name": "tubulin beta-2B chain", "refseq_ac": "NP_821080", "gene_names_uniprotkb": "TUBB2B", "gene_names_refseq": "CDCBM7; PMGYSA; TUBB2B; bA506K6.1", "protein_names_uniprotkb": "Tubulin beta-2B chain", "protein_names_refseq": "class II beta-tubulin isotype; class IIb beta-tubulin; epididymis secretory sperm binding protein; tubulin beta-2B chain; tubulin, beta 2B; tubulin, beta polypeptide paralog", "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); tubulinopathy (Disease Ontology:DOID:0112227); facial paralysis (Disease Ontology:DOID:13934)", "pathway": " (hsa:347733); (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": 32, "publication_count": 773, "publication_id_list": 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"class_list": "", "function": "A novel family illustrating the mild phenotypic spectrum of TUBB2B variants., [RefSeq, PubMed]; Periprostatic adipose tissue promotes prostate cancer resistance to docetaxel by paracrine IGF-1 upregulation of TUBB2B beta-tubulin isoform., [RefSeq, PubMed]; TUBB2B facilitates progression of hepatocellular carcinoma by regulating cholesterol metabolism through targeting HNF4A/CYP27A1. Publication Status: Online-Only, [RefSeq, PubMed]; The class II beta-tubulin isotype seems to be a promising predictive marker of docetaxel activity in the treatment of breast neoplasms., [RefSeq, PubMed]; The data suggest that the ratio of beta-tubulin classes II and V mRNA could be useful as a biomarker for NSCLC tumor differentiation and/or NSCLC aggressiveness., [RefSeq, PubMed]; The present study identified a novel significant association between the increased expression levels of MAPK10, TUBB2B and RASL11B, and neuroblastoma cells., [RefSeq, PubMed]; The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]., [RefSeq]; Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers (PubMed:23001566, PubMed:26732629, PubMed:28013290). 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. Plays a critical role in proper axon guidance in both central and peripheral axon tracts (PubMed:23001566). Implicated in neuronal migration (PubMed:19465910)., [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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "A8K068", "ec_number_list": "", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0001764 neuron migration;GO:0021987 cerebral cortex development;GO:0050804 modulation of chemical synaptic transmission;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 77.6, "record_id": "Q9BVA1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B6U9-1", "uniprot_id": "A0A075B6U9_HUMAN", "mass": 2318.0, "length": 22, "protein_name": "T cell receptor alpha joining 2 (non-functional)", "gene_name": "TRAJ2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRAJ2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 2 (non-functional)", "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": "A0A075B6U9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MT86-1", "uniprot_id": "A0A0A0MT86_HUMAN", "mass": 1462.0, "length": 13, "protein_name": "Immunoglobulin lambda joining 5 (non-functional)", "gene_name": "IGLJ5", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLJ5", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda joining 5 (non-functional)", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11237011;18477386", "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": "A0A0A0MT86-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A6YYC5-1", "uniprot_id": "TVA14_HUMAN", "mass": 12931.0, "length": 116, "protein_name": "T cell receptor alpha variable 14/delta variable 4", "gene_name": "TRAV14DV4", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRAV14DV4", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 14/delta variable 4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0042101 T cell receptor complex;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0A6YYC5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GWB2-1", "uniprot_id": "PRT1B_HUMAN", "mass": 26769.0, "length": 263, "protein_name": "Proline rich transmembrane protein 1B", "gene_name": "PRRT1B", "organism": "Human", "refseq_name": "proline rich transmembrane protein 1B isoform 2", "refseq_ac": "NP_001382572", "gene_names_uniprotkb": "PRRT1B; 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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": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": 0.6, "record_id": "A0A0A0MT78-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30511-1", "uniprot_id": "HLAF_HUMAN", "mass": 39062.0, "length": 346, "protein_name": "HLA class I histocompatibility antigen, alpha chain F", "gene_name": "HLA-F", "organism": "Human", "refseq_name": "HLA class I histocompatibility antigen, alpha chain F isoform 3 precursor", "refseq_ac": "NP_001091948", "gene_names_uniprotkb": "HLA-F; HLA-5.4; HLAF", "gene_names_refseq": "CDA12; HLA-5.4; HLA-CDA12; HLA-F; HLAF", "protein_names_uniprotkb": "HLA class I histocompatibility antigen, alpha chain F; CDA12; HLA F antigen; Leukocyte antigen F; MHC class I antigen F", "protein_names_refseq": "HLA F antigen; HLA class I histocompatibility antigen, alpha chain F isoform 3 precursor; HLA class I histocompatibility antigen, alpha chain F; MHC class I antigen F; leukocyte antigen F; non-classical MHC class I antigen; nonclassical MHC class I antigen", "tax_id": 9606, "disease": "graft-versus-host disease (Disease Ontology:DOID:0081267); myositis (Disease Ontology:DOID:633)", "pathway": " (hsa:3134); (R-HSA-1236974); (R-HSA-1236977); (R-HSA-198933); (R-HSA-877300); (R-HSA-909733); (R-HSA-9705671); (R-HSA-983170)", "pathway_count": 8, "publication_count": 355, "publication_id_list": "10.1101/2023.09.13.557529;10064069;10067896;10395669;10468607;10499918;10542297;10600378;10605026;10727083;10746781;10777614;10825291;10982397;10982844;10986460;11092454;11160214;11163199;11169396;11237011;11247303;11265639;11337497;11377645;11404376;11489943;11513152;11514579;11556966;11585831;11807247;11857637;11858820;11861603;11955593;11955595;11955599;11972023;12019269;12029096;12040185;12213321;12436109;12436110;12438563;12446674;12483297;12588680;12645939;12692549;12759408;12766484;12842042;12915721;1396683;14586410;14681859;14705989;14718384;14719373;14722222;14769151;14970179;15034010;15047845;1508672;15136729;15143187;15155468;15187158;15208624;15286279;15304001;15312780;15322115;15388922;15449939;15530433;15534202;15541655;15580655;15607800;15778442;15778510;15781451;15800062;15851719;15864273;15927284;16009940;16014749;16091383;16129954;16171819;16237089;16339513;16380601;16465444;16467876;16473882;16551255;16570139;16709803;16737824;16754721;1688605;16893496;16904340;16928187;16987978;17045824;17056546;17057721;1707659;17088086;17125875;17237375;17251292;1730654;17316621;17337780;17351669;17656363;17969444;18031695;18035202;18037897;18055229;18209062;18234675;18268517;18362138;18446792;18575461;18591661;18593354;18692471;18802471;19119025;19149696;19193869;19217269;19261456;19342655;19359216;19361863;19426129;19498108;19575639;19592130;19851281;19918052;20049711;20130243;20304997;20363976;2038058;20483783;20605430;20643137;20730098;20865824;21050182;21241660;21800138;21841309;21877119;2211721;22153078;22396535;22941947;23061660;23121362;23613522;23695528;23851683;23929856;24018270;24190977;24305946;24417533;2450918;24714562;25083866;25371710;25502872;25645385;25703557;25716998;26154972;26284469;26300885;26928464;26992070;27455421;27846572;27862975;28636952;28904123;29351928;29493099;29557506;29632711;30429286;30485383;30620550;31092671;31217245;31844290;31850239;32032529;32113509;32157095;32350084;32353859;32357974;32428392;32488085;32502341;32511913;32574262;32589897;32661006;32726803;32728199;32758689;32862111;32938616;32953130;32979938;32983136;33024073;33043033;33060197;33097660;33110251;33117408;33141586;33189161;33193462;33239784;33349665;33360543;33372174;33372854;33396578;33396605;33440148;33479219;33495715;33514628;33537174;33567255;33592498;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33989516;33990585;34021074;34054808;34084167;34087483;34110168;34166398;34239064;34290717;34341353;34357683;34375313;34400613;34433824;34439781;34452305;34471099;34502139;34597346;34932366;35051231;35102342;35154160;35318648;35580925;35643212;35925520;36010968;36284347;36581221;37051252;37074911;37166140;37686397;37854606;37938771;38009058;40914422;6162102;6548414;688397;7510216;7514165;7526154;7530745;7531291;7537377;7540766;7542404;7615558;7617032;7642652;7657660;7673114;7690989;7796299;7876241;8156998;8176225;8178173;8197134;8232552;8342042;8483949;8530158;8550631;8605876;8621447;8631301;8702790;8995416;9096384;9111318;9121453;9143706;9242679;9285412;9314561;9334213;9605141;9660177;9700512;9730896;9839550;9847332;9861020", "class_list": "", "function": "Association of human leukocyte antigen-G and -F with recurrent miscarriage and implantation failure: A systematic review and meta-analysis. Review article, [RefSeq, PubMed]; Evolution and molecular interactions of major histocompatibility complex (MHC)-G, -E and -F genes. Review article Publication Status: Online-Only, [RefSeq, PubMed]; HLA-F and LILRB1 Genetic Polymorphisms Associated with Alloimmunisation in Sickle Cell Disease. Publication Status: Online-Only, [RefSeq, PubMed]; HLA-F transcriptional and protein differential expression according to its genetic polymorphisms., [RefSeq, PubMed]; Non-classical major histocompatibility class Ib molecule postulated to play a role in immune surveillance, immune tolerance and inflammation. Functions in two forms, as a heterotrimeric complex with B2M/beta-2 microglobulin and a peptide (peptide-bound HLA-F-B2M) and as an open conformer (OC) devoid of peptide and B2M (peptide-free OC). In complex with B2M, presents non-canonical self-peptides carrying post-translational modifications, particularly phosphorylated self-peptides. Peptide-bound HLA-F-B2M acts as a ligand for LILRB1 inhibitory receptor, a major player in maternal-fetal tolerance. Peptide-free OC acts as a ligand for KIR3DS1 and KIR3DL2 receptors (PubMed:28636952). Upon interaction with activating KIR3DS1 receptor on NK cells, triggers NK cell degranulation and anti-viral cytokine production (PubMed:27455421). Through interaction with KIR3DL2 receptor, inhibits NK and T cell effector functions (PubMed:24018270). May interact with other MHC class I OCs to cross-present exogenous viral, tumor or minor histompatibility antigens to cytotoxic CD8+ T cells, triggering effector and memory responses (PubMed:23851683). May play a role in inflammatory responses in the peripheral nervous system. Through interaction with KIR3DL2, may protect motor neurons from astrocyte-induced toxicity (PubMed:26928464)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Single-cell profiling reveals immune disturbances landscape and HLA-F-mediated immune tolerance at the maternal-fetal interface in preeclampsia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5JQI8;Q5JQJ1;Q5SPT5;Q860R0;Q8MGQ1;Q8WLP5;Q95HC0;Q9TP68", "ec_number_list": "", "go_molecular_function": "GO:0046978 TAP1 binding;GO:0046979 TAP2 binding;GO:0005102 signaling receptor binding;GO:0030881 beta-2-microglobulin binding;GO:0042605 peptide antigen binding", "go_cellular_component": "GO:0032398 MHC class Ib protein complex;GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002715 regulation of natural killer cell mediated immunity;GO:0002725 negative regulation of T cell cytokine production;GO:0006955 immune response;GO:0002486 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent", "synthesized_glycan_count": 0, "hit_score": 36.6, "record_id": "P30511-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08945-1", "uniprot_id": "SSRP1_HUMAN", "mass": 81075.0, "length": 709, "protein_name": "FACT complex subunit SSRP1", "gene_name": "SSRP1", "organism": "Human", "refseq_name": "FACT complex subunit SSRP1", "refseq_ac": "NP_003137", "gene_names_uniprotkb": "SSRP1; FACT80", "gene_names_refseq": "FACT80; FACT; SSRP1; T160", "protein_names_uniprotkb": "FACT complex subunit SSRP1; Chromatin-specific transcription elongation factor 80 kDa subunit; FACT 80 kDa subunit; FACTp80; Facilitates chromatin transcription complex 80 kDa subunit; Facilitates chromatin transcription complex subunit SSRP1; Recombination signal sequence recognition protein 1; Structure-specific recognition protein 1; T160; hSSRP1", "protein_names_refseq": "FACT 80 kDa subunit; FACT complex subunit SSRP1; FACTp80; chromatin-specific transcription elongation factor 80 kDa subunit; cisplatin-DNA SSRP; facilitates chromatin remodeling 80 kDa subunit; facilitates chromatin transcription complex 80 kDa subunit; facilitates chromatin transcription complex subunit SSRP1; hSSRP1; high mobility group box; recombination signal sequence recognition protein 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:6749); (R-HSA-112382); (R-HSA-167152); (R-HSA-167200); (R-HSA-167238); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-674695); (R-HSA-6796648); (R-HSA-6804756); (R-HSA-75955); (R-HSA-9943411)", "pathway_count": 14, "publication_count": 233, "publication_id_list": "10.1101/2023.09.13.557529;10199401;10199952;10421373;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10757782;10866664;10884347;10912001;10984493;11237011;11239457;11313498;11313499;11344167;11350971;11447225;11511362;11546806;11551930;11740489;11780126;11824977;11859374;11884399;11971958;11988847;12064478;12374749;12393879;12676794;12682017;12702766;12851404;12914926;12934006;1372440;14660563;14701750;14702041;14978097;15053879;15302935;15489290;15561718;15592455;15647753;15659405;15781865;15866171;16263726;16322561;16372014;16498457;16713563;17081983;17108107;17234882;17287340;17349958;17433364;17591690;17717186;18042460;18077418;18220336;18318008;18452278;18490454;18669648;18691976;18707149;19007248;19121998;1939271;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;19836239;19952111;19965871;20068230;20068231;20159561;20166139;20211137;20230923;20959462;21317932;21406692;22002106;22012619;22046413;22223895;22424782;22544926;22569126;22645359;22898188;22922743;22988298;23000554;23186163;23301498;23481700;23485397;23538671;23676219;24145406;24275569;24366607;2449431;24554720;24662513;24714562;24715725;24874608;25429106;25505266;25561469;25576301;25645385;25712099;25880248;25892735;26154972;26659056;26728094;26992070;27499292;27600516;27661449;27846572;27862975;27920218;28063628;28228285;28446606;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30484775;30524438;31217245;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33214551;33298915;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36577379;37084412;37217939;37938771;38517892;38665916;40596516;40914422;7660122;7660129;7660130;7853496;8370526;9063748;9450929;9489704;9566881;9836642;9925639", "class_list": "", "function": "Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Histone chaperone SSRP1 is required for apoptosis inhibition and mitochondrial function in HCC via transcriptional promotion of TRAP1., [RefSeq, PubMed]; Human FACT subunits coordinate to catalyze both disassembly and reassembly of nucleosomes., [RefSeq, PubMed]; Hypoxia-inducible factor 1 recruits FACT and RNF20/40 to mediate histone ubiquitination and transcriptional activation of target genes., [RefSeq, PubMed]; The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 37, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 19, "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": "Q5BJG8", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0042393 histone binding;GO:0031491 nucleosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0035101 FACT complex;GO:0005694 chromosome", "go_biological_process": "GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0006260 DNA replication;GO:0006334 nucleosome assembly;GO:0006337 nucleosome disassembly", "synthesized_glycan_count": 0, "hit_score": 23.8, "record_id": "Q08945-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10915-1", "uniprot_id": "HPLN1_HUMAN", "mass": 40166.0, "length": 354, "protein_name": "Hyaluronan and proteoglycan link protein 1", "gene_name": "HAPLN1", "organism": "Human", "refseq_name": "hyaluronan and proteoglycan link protein 1 precursor", "refseq_ac": "NP_001875", "gene_names_uniprotkb": "HAPLN1; CRTL1", "gene_names_refseq": "CRT1; CRTL1; HAPLN1", "protein_names_uniprotkb": "Hyaluronan and proteoglycan link protein 1; Cartilage-link protein; Cartilage-linking protein 1; Proteoglycan link protein", "protein_names_refseq": "Cartilage link protein; cartilage-link protein; cartilage-linking protein 1; hyaluronan and proteoglycan link protein 1 precursor; proteoglycan link protein", "tax_id": 9606, "disease": "spondyloepiphyseal dysplasia congenita (Disease Ontology:DOID:14789)", "pathway": " (hsa:1404); (R-HSA-3000178)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10022829;10339611;10673326;11027579;11084047;11237011;11259413;12225811;12663660;1376317;14715956;15075323;15296743;1544908;16293224;16493581;16959974;17588949;2030970;2059554;21642437;21789315;22134916;2286376;2320422;2364322;2412224;2420006;2430969;25892735;29741879;35720292;36010968;36737556;37074911;37647592;38032325;39358671;6193777;6439184;7499434;7527058;7542669;7559467;7685013;7693733;7852349;8002934;8440685;8798654;8943283;9252349;9294172;9341124;9346959;9685393;9949188", "class_list": "glycogene", "function": "Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study., [RefSeq, PubMed]; HAPLN1 Affects Cell Viability and Promotes the Pro-Inflammatory Phenotype of Fibroblast-Like Synoviocytes. Publication Status: Online-Only, [RefSeq, PubMed]; HAPLN1 matrikine: a bone marrow homing factor linked to poor outcomes in patients with MM., [RefSeq, PubMed]; Hyaluronan and Proteoglycan Link Protein 1 Activates the BMP4/Smad1/5/8 Signaling Pathway to Promote Osteogenic Differentiation: an Implication in Fracture Healing., [RefSeq, PubMed]; Probing binding and occlusion of substrate in the human creatine transporter-1 by computation and mutagenesis., [RefSeq, PubMed]; Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 509, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 26, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R9A9", "ec_number_list": "", "go_molecular_function": "GO:0005540 hyaluronic acid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0045202 synapse;GO:0072534 perineuronal net", "go_biological_process": "GO:0007155 cell adhesion;GO:0007417 central nervous system development;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P10915-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQG7-1", "uniprot_id": "HPS4_HUMAN", "mass": 76919.0, "length": 708, "protein_name": "BLOC-3 complex member HPS4", "gene_name": "HPS4", "organism": "Human", "refseq_name": "BLOC-3 complex member HPS4 isoform a", "refseq_ac": "NP_071364", "gene_names_uniprotkb": "HPS4; KIAA1667", "gene_names_refseq": "BLOC3S2; HPS4; LE", "protein_names_uniprotkb": "BLOC-3 complex member HPS4; Hermansky-Pudlak syndrome 4 protein; Light-ear protein homolog", "protein_names_refseq": "BLOC-3 complex member HPS4 isoform a; BLOC-3 complex member HPS4; light-ear protein homolog", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome 4 (Disease Ontology:DOID:0060542); platelet storage pool deficiency (Disease Ontology:DOID:2223); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:89781); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 241, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11258795;11516400;11689439;11703925;11746448;11784320;11836498;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12663659;12664304;12684051;12756248;12847290;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18088087;18094055;18354496;18367545;1845915;18477386;18477474;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19656848;19664994;19690332;19725050;19729655;19745841;20008558;20048159;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22544926;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23563589;23645161;23678941;23684622;23713133;23839779;24168225;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25576301;25645385;25648148;25713415;25925668;26055712;26154972;26177209;26245486;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27862975;28904123;29493099;29557506;31092671;31154438;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35561310;36010968;36215666;39302247;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991)., [UniProtKB, PubMed]; HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3), [RefSeq, PubMed]; Hermansky-Pudlak syndrome type 4 (HPS-4) patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis., [RefSeq, PubMed]; Identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles, [RefSeq, PubMed]; Identification of mutations which establish HPS4 as important in Herman-Pudlak syndrome, and identification of mouse homolog light-ear gene, [RefSeq, PubMed]; Observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles, [RefSeq, PubMed]; These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that the HPS4 gene confers a susceptibility to schizophrenia., [RefSeq, PubMed]; This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 21, "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": "B1AHQ4;Q5H8V6;Q96LX6;Q9BY93;Q9UH37;Q9UH38", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046983 protein dimerization activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0031085 BLOC-3 complex;GO:0042827 platelet dense granule;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0048075 positive regulation of eye pigmentation;GO:1903232 melanosome assembly;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0006605 protein targeting;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 24.4, "record_id": "Q9NQG7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99829-1", "uniprot_id": "CPNE1_HUMAN", "mass": 59059.0, "length": 537, "protein_name": "Copine-1", "gene_name": "CPNE1", "organism": "Human", "refseq_name": "copine-1 isoform b", "refseq_ac": "NP_003906", "gene_names_uniprotkb": "CPNE1; CPN1", "gene_names_refseq": "COPN1; CPN1; CPNE1", "protein_names_uniprotkb": "Copine-1; Chromobindin 17; Copine I", "protein_names_refseq": "chromobindin 17; copine I; copine-1 isoform b", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); kidney failure (Disease Ontology:DOID:1074); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); demyelinating disease (Disease Ontology:DOID:3213); periodontal disease (Disease Ontology:DOID:3388); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); rheumatoid arthritis (Disease Ontology:DOID:7148); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:8904); (R-HSA-1483206); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "11237011;1168700;12440769;12522145;12949241;14674885;15939762;17308301;18212740;18831769;19539605;19608861;21087455;22284826;22299025;23263657;23301498;23481700;23650620;24338473;24715725;25002142;25418920;25450385;25469497;25576301;25645385;25810538;25880248;26154972;26755581;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28514659;28649982;28832583;28855257;28904123;29242379;29314611;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30379171;30397120;30410026;30429286;30779550;30833945;31020640;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34357683;34509645;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36241641;36284347;36310511;37217939;38062811;38355101;38665916;40596516;40914422;8692836;9430674", "class_list": "", "function": "CPNE1 shares a promoter and 5'UTR exons with RBM12. This genomic structure is conserved among multiple species. Publication Status: Online-Only, [RefSeq, PubMed]; CPNE1, A Potential Therapeutic Target in Nasopharyngeal Carcinoma, Affects Cell Growth and Radiation Resistance., [RefSeq, PubMed]; Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008]., [RefSeq]; Calcium-dependent phospholipid-binding protein that plays a role in calcium-mediated intracellular processes (PubMed:14674885). Involved in the TNF receptor signaling pathway in a calcium-dependent manner (PubMed:14674885). Exhibits calcium-dependent phospholipid binding properties (PubMed:19539605, PubMed:9430674). Plays a role in neuronal progenitor cell differentiation; induces neurite outgrowth via a AKT-dependent signaling cascade and calcium-independent manner (PubMed:23263657, PubMed:25450385). May recruit target proteins to the cell membrane in a calcium-dependent manner (PubMed:12522145). May function in membrane trafficking (PubMed:9430674). Involved in TNF-induced NF-kappa-B transcriptional repression by inducing endoprotease processing of the transcription factor NF-kappa-B p65/RELA subunit (PubMed:18212740). Also induces endoprotease processing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL (PubMed:18212740)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Copine I regulates tumour necrosis factor-alpha receptor signaling pathways., [RefSeq, PubMed]; Overexpression of Copines-1 is associated with clinicopathological parameters and poor outcome in gastric cancer., [RefSeq, PubMed]; Silencing of CPNE1-TRAF2 Axis Restrains the Development of Pancreatic Cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 4, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E1P5Q4;Q6IBL3;Q9H243;Q9NTZ7", "ec_number_list": "", "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0051059 NF-kappaB binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006508 proteolysis;GO:0006629 lipid metabolic process;GO:0010629 negative regulation of gene expression;GO:0045666 positive regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q99829-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96KP4-1", "uniprot_id": "CNDP2_HUMAN", "mass": 52878.0, "length": 475, "protein_name": "Cytosolic non-specific dipeptidase", "gene_name": "CNDP2", "organism": "Human", "refseq_name": "cytosolic non-specific dipeptidase isoform 2", "refseq_ac": "NP_001161971", "gene_names_uniprotkb": "CNDP2; CN2; CPGL; HEL-S-13; PEPA", "gene_names_refseq": "CN2; CNDP2; CPGL; HEL-S-13; HsT2298; PEPA", "protein_names_uniprotkb": "Cytosolic non-specific dipeptidase; 3.4.-.-; 3.4.13.18; CNDP dipeptidase 2; Glutamate carboxypeptidase-like protein 1; N-lactoyl-amino acid synthase/hydrolase; Peptidase A; Threonyl dipeptidase", "protein_names_refseq": "CNDP dipeptidase 2 (metallopeptidase M20 family); carnosinase-2; carnosine dipeptidase II; cytosolic non-specific dipeptidase isoform 2; cytosolic non-specific dipeptidase; cytosolic nonspecific dipeptidase; epididymis secretory protein Li 13; glutamate carboxypeptidase-like protein 1; peptidase A; threonyl dipeptidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55748); (R-HSA-174403); (R-HSA-9753281)", "pathway_count": 3, "publication_count": 145, "publication_id_list": "10369661;10741631;11237011;11714888;12473676;15498874;16696573;17121880;17627974;17924658;18232020;18357469;18515354;18753673;18991276;19109178;19346245;19463;19531498;19608861;19842618;20190787;21666065;21712391;22223895;22299025;22349737;22406294;22544926;22706990;22898188;23481700;23682772;24275569;24366607;24395568;24714562;24715725;25502872;25645385;2573352;25802875;25880248;25931127;25964343;26049587;26067475;26154972;26375851;26768311;26992070;27397612;27452731;27600516;27846572;27862975;27893789;27920218;28228285;28467828;28514659;28832583;28834231;28855257;28904123;29056506;29242379;29314611;29393594;29402779;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30524438;30573663;30779550;30833945;31154438;31222486;31530632;31537175;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32472168;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33936100;3395122;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34509645;34725712;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36637795;37938771;38665916;40914422;6950087;70646;7469630;7646467;7826375;8813074;9024171;9080;9516961;9675072", "class_list": "", "function": "2 SNPs (rs7244647 in CNDP1 and rs4891558 in CNDP2) were associated with obesity risk. In addition, these associations were observed only in the group with high carbohydrate and low carotene intake but not in the group with low carbohydrate and high carotene intake., [RefSeq, PubMed]; CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]., [RefSeq]; Catalyzes the peptide bond hydrolysis in dipeptides, displaying a non-redundant activity toward threonyl dipeptides. Mediates threonyl dipeptide catabolism in a tissue-specific way. Has high dipeptidase activity toward cysteinylglycine, an intermediate metabolite in glutathione metabolism. Metabolizes N-lactoyl-amino acids, both through hydrolysis to form lactic acid and amino acids, as well as through their formation by reverse proteolysis. Plays a role in the regulation of cell cycle arrest and apoptosis., [UniProtKB, UniProtKB, UniProtKB]; Cytosolic metallodipeptidase with broad substrate specificity that catalyzes the hydrolysis of amide bonds in dipeptides and pseudopeptides (PubMed:12473676, PubMed:19346245, PubMed:25964343). Substrates include L-cysteinylglycine, an intermediate metabolite of the gamma-glutamyl cycle of glutathione metabolism (PubMed:19346245, PubMed:25964343). Can also hydrolyze threonyl-containing dipeptides (By similarity). Upon physiological conditions of amino acids and lactate excess can also catalyze a reverse proteolysis reaction, generating N-[(S)-lactoyl]-L-phenylalanine and possibly other N-lactoyl-amino acids which it can also hydrolyze in vitro. N-[(S)-lactoyl]-L-phenylalanine is an exercise-induced metabolite that influences food intake and systemic energy balance (PubMed:25964343). Carnosine is probably not a physiological substrate and L-homocarnosine is not a substrate for this enzyme (PubMed:12473676). Plays a role in the regulation of cell cycle arrest and apoptosis (PubMed:17121880, PubMed:24395568)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Cytosolic nonspecific dipeptidase 2 promotes the occurrence and development of ovarian cancer through the PI3K/AKT signaling pathway., [RefSeq, PubMed]; Exploring the structural and dynamic differences between human carnosinase I (CN1) and II (CN2)., [RefSeq, PubMed]; Our large, comprehensive study did not find an association between the D18S880 microsatellite or any other polymorphisms in the CNDP2-CNDP1 genomic region and susceptibility for diabetic nephropathy in type 1 diabetes GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These results suggest that the zinc form of CN2 is an active enzyme, but with a different substrate specificity from that of the manganese form., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KUG4;Q8WY59;Q9BQ94;Q9NVB4;V9HWE5", "ec_number_list": "3.4.11.1;3.4.11.5;3.4.13.23;3.4.13.18;3.4.-.-", "go_molecular_function": "GO:0046872 metal ion binding;GO:0004180 carboxypeptidase activity;GO:0070573 metallodipeptidase activity;GO:0016805 dipeptidase activity;GO:0008233 peptidase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0006749 glutathione metabolic process;GO:0019184 nonribosomal peptide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q96KP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20813-1", "uniprot_id": "CP2B6_HUMAN", "mass": 56278.0, "length": 491, "protein_name": "Cytochrome P450 2B6", "gene_name": "CYP2B6", "organism": "Human", "refseq_name": "cytochrome P450 2B6", "refseq_ac": "NP_000758", "gene_names_uniprotkb": "CYP2B6", "gene_names_refseq": "CPB6; CYP2B6; CYP2B7; CYP2B; CYPIIB6; EFVM; IIB1; P450", "protein_names_uniprotkb": "Cytochrome P450 2B6; 1,4-cineole 2-exo-monooxygenase; 1.14.13.-; CYPIIB6; Cytochrome P450 IIB1", "protein_names_refseq": "1,4-cineole 2-exo-monooxygenase; cytochrome P450 2B6; cytochrome P450 IIB1; cytochrome P450, family 2, subfamily B, polypeptide 6; cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); scapuloperoneal myopathy (Disease Ontology:DOID:0060253); X-linked Emery-Dreifuss muscular dystrophy 6 (Disease Ontology:DOID:0070251); reducing body myopathy 1A (Disease Ontology:DOID:0080090); reducing body myopathy 1B (Disease Ontology:DOID:0080687); Uruguay faciocardiomusculoskeletal syndrome (Disease Ontology:DOID:0112148); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); depressive disorder (Disease Ontology:DOID:1596); tuberculosis (Disease Ontology:DOID:399); myopathy (Disease Ontology:DOID:423); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acute myeloid leukemia (Disease Ontology:DOID:9119); neonatal abstinence syndrome (Disease Ontology:DOID:9828); obesity (Disease Ontology:DOID:9970); drug dependence (Disease Ontology:DOID:9974); heroin dependence (Disease Ontology:DOID:9976); obsolete efavirenz, poor metabolism of (MONDO:MONDO:0013799)", "pathway": " (hsa:1555); (R-HSA-211935); (R-HSA-211945); (R-HSA-211981); (R-HSA-211999)", "pathway_count": 5, "publication_count": 111, "publication_id_list": "10383923;10445380;10731522;10741631;10768437;10945627;11154734;11162607;11237011;11243870;11422004;11470993;11695850;11701230;12464245;12629583;12642465;12721789;12725862;12732646;12865317;1351198;14551287;15006160;15190123;15194512;15196988;15350128;15365656;15454734;15469410;15492766;15523003;15535985;15622315;15665333;16359177;16614850;1664256;16765324;17400359;18254726;18256025;18285471;19053771;19425200;19588076;19764817;20007405;20061448;20177059;2025243;20422440;20542992;20639527;20860463;21289075;21875942;22700792;22813719;22909231;23616950;23953689;24423752;24677340;24900196;25144769;25425164;25446851;25576336;2573390;2583091;25923589;2813061;2897122;32152082;32171872;32187464;32205870;32210741;32938616;35051231;35494241;35580925;38071562;38166557;38560574;38934229;39218044;497175;6220203;7217086;7903454;7980644;8627510;8631948;8637342;8647857;8913342;8914854;8975785;8985016;9028626;9103523;9169443;9367528;9600267;9644715;9653080;9842986;9884161", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of endocannabinoids and steroids (PubMed:12865317, PubMed:21289075). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the epoxidation of double bonds of arachidonoylethanolamide (anandamide) to 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling (PubMed:21289075). Hydroxylates steroid hormones, including testosterone at C-16 and estrogens at C-2 (PubMed:12865317, PubMed:21289075). Plays a role in the oxidative metabolism of xenobiotics, including plant lipids and drugs (PubMed:11695850, PubMed:22909231). Acts as a 1,4-cineole 2-exo-monooxygenase (PubMed:11695850)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Allele 2B6*9: Has low affinity for anandamide and can only produce 11,12 EpETrE-EAs., [UniProtKB, PubMed]; 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]; Functional significance of CYP2B6 gene rare allelic variants identified in Japanese individuals., [RefSeq, PubMed]; Genetic polymorphisms in CYP2B6 may be associated with lung cancer risk in the Chinese Han population., [RefSeq, PubMed]; Prenatal efavirenz exposure is independently associated with maternal, but not fetal CYP2B6 genotype., [RefSeq, PubMed]; The role of polymorphic cytochrome P450 gene (CYP2B6) in B-chronic lymphocytic leukemia (B-CLL) incidence and outcome among Egyptian patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DWP3;Q2V565;Q9UK46", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.14;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;5.4.4.7;1.14.14.74;5.3.99.5;1.14.14.25", "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;GO:0008392 arachidonate epoxygenase activity;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0042180 ketone metabolic process;GO:0006805 xenobiotic metabolic process;GO:0042178 xenobiotic catabolic process;GO:0008202 steroid metabolic process;GO:0019373 epoxygenase P450 pathway", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P20813-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYS4-1", "uniprot_id": "DAAF8_HUMAN", "mass": 55682.0, "length": 520, "protein_name": "Dynein axonemal assembly factor 8", "gene_name": "DNAAF8", "organism": "Human", "refseq_name": "dynein axonemal assembly factor 8", "refseq_ac": "NP_631909", "gene_names_uniprotkb": "DNAAF8; C16orf71; DAAP1", "gene_names_refseq": "C16orf71; DNAAF8; Daap1", "protein_names_uniprotkb": "Dynein axonemal assembly factor 8; Dynein axonemal-associated protein 1", "protein_names_refseq": "dynein axonemal assembly factor 8; dynein axonemal-associated protein 1; uncharacterized protein C16orf71", "tax_id": 9606, "disease": "", "pathway": " (hsa:146562)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;30192525;30379171;31429579", "class_list": "", "function": "In cyliated cells, dynein axonemal particle-specific protein required for deployment of ODA to the axoneme. Interacts with outer dynein arm (ODA) subunits., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8NCV0", "ec_number_list": "", "go_molecular_function": "GO:0070840 dynein complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0120293 dynein axonemal particle", "go_biological_process": "GO:0036158 outer dynein arm assembly", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8IYS4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6V0L0-1", "uniprot_id": "CP26C_HUMAN", "mass": 57111.0, "length": 522, "protein_name": "Cytochrome P450 26C1", "gene_name": "CYP26C1", "organism": "Human", "refseq_name": "cytochrome P450 26C1", "refseq_ac": "NP_899230", "gene_names_uniprotkb": "CYP26C1", "gene_names_refseq": "CYP26C1; FFDD4", "protein_names_uniprotkb": "Cytochrome P450 26C1; 1.14.14.1; CYP26C1", "protein_names_refseq": "cytochrome P450 26C1; cytochrome P450, family 26, subfamily C, polypeptide 1", "tax_id": 9606, "disease": "focal facial dermal dysplasia type IV (MONDO:MONDO:0013997)", "pathway": " (hsa:340665); (R-HSA-211916); (R-HSA-5365859); (R-HSA-5579004)", "pathway_count": 4, "publication_count": 44, "publication_id_list": "10329026;10369264;10823918;10839978;11007799;11012668;11237011;11245473;12036956;12226107;12680773;14532297;14596915;16385451;16933217;17646648;18039331;18805086;1889753;20801113;21529158;21621639;21851338;22019272;22299025;23161670;23220587;28832583;28904123;2935875;29393594;29476041;29706635;29786170;3013304;31154438;31419517;34681016;8493914;8679605;9228021;9677409;9705317;9716180", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:14532297). RAs exist as at least four different isomers: all-trans-RA (atRA), 9-cis-RA, 13-cis-RA, and 9,13-dicis-RA, where atRA is considered to be the biologically active isomer, although 9-cis-RA and 13-cis-RA also have activity (Probable). Catalyzes the oxidation of atRA primarily at C-4 (PubMed:14532297). Oxidation of atRA limits its biological activity and initiates a degradative process leading to its eventual elimination, thereby contributes to the regulation of atRA homeostasis and signaling (Probable). Able to metabolize other RAs such as 9-cis with high efficiency (PubMed:14532297). Can oxidize all-trans-13,14-dihydroretinoate (DRA) to metabolites which could include all-trans-4-oxo-DRA, all-trans-4-hydroxy-DRA, all-trans-5,8-epoxy-DRA, and all-trans-18-hydroxy-DRA (By similarity). Shares sequence similarity with other CYP26 family members, but has higher affinity to 9-cis-RA and is much less sensitive to the inhibitory effects of ketoconazole (PubMed:14532297). In cooperation with Cyp26a1, contributes to the CNS patterning and the development of regions of higher visual acuity (By similarity)., [UniProtKB, PubMed, UniProtKB]; Association of CYP26C1 Promoter Hypomethylation with Small Vessel Occlusion in Korean Subjects. Publication Status: Online-Only, [RefSeq, PubMed]; CYP26C1 missense variants and one splicing variant were identified in six independent individuals with idiopathic short stature., [RefSeq, PubMed]; Findings suggest that CYP26C1 is a 4-oxo-atRA hydroxylase and may be important in regulating the concentrations of this active retinoid in human tissues, [RefSeq, PubMed]; May play a specific role in catabolizing both all-trans and 9-cis isomers of retinoic acid., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]., [RefSeq]; This review highlights the current knowledge of structure-function of CYP26 enzymes and focuses on their role in human retinoid metabolism in different tissues. 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": 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": "Q5VXH6", "ec_number_list": "1.14.14.1;1.14.13.-;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.14.75;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130;5.3.99.5", "go_molecular_function": "GO:0008401 retinoic acid 4-hydroxylase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;GO:0001972 retinoic acid binding", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006766 vitamin metabolic process;GO:0048284 organelle fusion;GO:0007417 central nervous system development;GO:0009952 anterior/posterior pattern specification;GO:0014032 neural crest cell development", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q6V0L0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P23786-1", "uniprot_id": "CPT2_HUMAN", "mass": 73777.0, "length": 658, "protein_name": "Carnitine O-palmitoyltransferase 2, mitochondrial", "gene_name": "CPT2", "organism": "Human", "refseq_name": "carnitine O-palmitoyltransferase 2, mitochondrial isoform 1 precursor", "refseq_ac": "NP_000089", "gene_names_uniprotkb": "CPT2; CPT1", "gene_names_refseq": "CPT1; CPT2; CPTASE; IIAE4", "protein_names_uniprotkb": "Carnitine O-palmitoyltransferase 2, mitochondrial; 2.3.1.21; CPT II; Carnitine palmitoyltransferase II", "protein_names_refseq": "CPT II; carnitine O-palmitoyltransferase 2, mitochondrial isoform 1 precursor; carnitine O-palmitoyltransferase 2, mitochondrial; carnitine palmitoyltransferase II; testicular secretory protein Li 13", "tax_id": 9606, "disease": "carnitine palmitoyltransferase II deficiency (Disease Ontology:DOID:0060235); muscular disease (Disease Ontology:DOID:0080000); lipid metabolism disorder (Disease Ontology:DOID:3146); brain disease (Disease Ontology:DOID:936); encephalopathy, acute, infection-induced, susceptibility to, 4 (MONDO:MONDO:0013633)", "pathway": " (hsa:1376); (R-HSA-1989781); (R-HSA-200425); (R-HSA-77305)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10090476;10559218;10677481;10777541;11237011;11267664;11356169;11477613;11790793;12118000;12177166;12505311;12582161;13295225;14517221;14605500;14615409;14711372;15060529;15067378;15130092;1528846;1540149;1550553;15622536;15635043;15811315;16380219;16972786;17223360;17488105;18306170;18540824;18556348;18719978;18848529;19088433;19710929;1988962;19934321;20068231;20110263;20233797;20457939;20538056;21697855;2174799;22123817;22871568;24196956;24277613;24715725;24780397;25418920;26154972;26375851;26811146;26828774;26992070;27920218;28228285;28510447;28649982;28832583;28904123;29242379;29393594;29557506;29786170;30315122;30379171;30429286;30779550;31844290;32157095;32265295;32357974;32938616;32983136;33537174;33592498;33912179;33968037;34357683;35051231;35561310;36195841;37217939;37926998;37950149;38395422;38428407;38665916;40930100;7685352;7711730;7892212;8358442;8647822;8651281;9012850;9048718;9099716;9344464;9399886;9600456;9685390;9691089;9706223;9748239;9758712", "class_list": "", "function": "GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription., [RefSeq, PubMed]; Identification of CPT2 as a prognostic biomarker by integrating the metabolism-associated gene signature in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the intramitochondrial synthesis of acylcarnitines from accumulated acyl-CoA metabolites (PubMed:20538056, PubMed:24780397). Reconverts acylcarnitines back into the respective acyl-CoA esters that can then undergo beta-oxidation, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters (PubMed:20538056)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil., [RefSeq, PubMed]; Role of PPAR-related genes in chronic heart failure: evidence from large populations. Publication Status: Online-Only, [RefSeq, PubMed]; SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for Regulating Lactate Metabolism in Colon Cancer., [RefSeq, PubMed]; The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "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": "B2R6S0;Q5SW68;Q9BQ26", "ec_number_list": "2.3.1.21;2.3.1.137;2.3.1.7;2.3.1.-;2.3.1.48;3.6.4.-;2.1.1.319;3.1.2.22;2.1.1.-;3.1.13.1;5.6.2.6;3.6.4.13", "go_molecular_function": "GO:0004095 carnitine O-palmitoyltransferase activity;GO:0008458 carnitine O-octanoyltransferase activity;GO:0016746 acyltransferase activity;GO:0016747 acyltransferase activity, transferring groups other than amino-acyl groups", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0001676 long-chain fatty acid metabolic process;GO:0006635 fatty acid beta-oxidation;GO:0006853 carnitine shuttle;GO:0009437 carnitine metabolic process;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "P23786-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A4D0V7-1", "uniprot_id": "CPED1_HUMAN", "mass": 117491.0, "length": 1026, "protein_name": "Cadherin-like and PC-esterase domain-containing protein 1", "gene_name": "CPED1", "organism": "Human", "refseq_name": "cadherin-like and PC-esterase domain-containing protein 1 isoform 2 precursor", "refseq_ac": "NP_001099003", "gene_names_uniprotkb": "CPED1; C7orf58; PRO34713", "gene_names_refseq": "C7orf58; CPED1", "protein_names_uniprotkb": "Cadherin-like and PC-esterase domain-containing protein 1", "protein_names_refseq": "cadherin-like and PC-esterase domain-containing protein 1 isoform 2 precursor; cadherin-like and PC-esterase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79974)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;12975309;20031566;22898188;24945404;25418920;26154972;26929215;27893789;28218747;28904123;29393594;29437277;29557506;30410026;30429286;31611695;32265295;32350084;32357974;32488085;33091337;33298915;33392160;33912179;35051231;35251023;36284347", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Variants at the CPED1 locus were strongly associated with bone mineral density at the skull and upper limb sites, but not with lower limb-bone mineral density. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K1R3;Q6UXT1;Q86T76;Q86T84;Q8N2T5;Q96NC9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "A4D0V7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NNT2-1", "uniprot_id": "CP096_HUMAN", "mass": 125041.0, "length": 1141, "protein_name": "Uncharacterized protein C16orf96", "gene_name": "C16orf96", "organism": "Human", "refseq_name": "uncharacterized protein C16orf96", "refseq_ac": "NP_001138483", "gene_names_uniprotkb": "C16orf96", "gene_names_refseq": "C16orf96", "protein_names_uniprotkb": "Uncharacterized protein C16orf96", "protein_names_refseq": "uncharacterized protein C16orf96", "tax_id": 9606, "disease": "", "pathway": " (hsa:342346)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "29557506;31844290;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "C9JH24", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NNT2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8K5M9-1", "uniprot_id": "CO062_HUMAN", "mass": 19679.0, "length": 175, "protein_name": "Uncharacterized protein C15orf62, mitochondrial", "gene_name": "C15orf62", "organism": "Human", "refseq_name": "uncharacterized protein C15orf62, mitochondrial precursor", "refseq_ac": "NP_001123920", "gene_names_uniprotkb": "C15orf62", "gene_names_refseq": "C15orf62", "protein_names_uniprotkb": "Uncharacterized protein C15orf62, mitochondrial", "protein_names_refseq": "uncharacterized protein C15orf62, mitochondrial precursor; uncharacterized protein C15orf62, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:643338)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "19913121;20628086", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "A6NK01", "ec_number_list": "", "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0007266 Rho protein signal transduction;GO:0008360 regulation of cell shape;GO:0031274 positive regulation of pseudopodium assembly;GO:0030838 positive regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A8K5M9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14810-1", "uniprot_id": "CPLX1_HUMAN", "mass": 15030.0, "length": 134, "protein_name": "Complexin-1", "gene_name": "CPLX1", "organism": "Human", "refseq_name": "complexin-1", "refseq_ac": "NP_006642", "gene_names_uniprotkb": "CPLX1", "gene_names_refseq": "CPLX1; CPX-I; CPX1; DEE63; EIEE63", "protein_names_uniprotkb": "Complexin-1; CPX I; Complexin I; Synaphin-2", "protein_names_refseq": "CPX I; complexin I; complexin-1; synaphin 2", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 63 (Disease Ontology:DOID:0080426); depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:10815); (R-HSA-181429); (R-HSA-181430); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642); (R-HSA-888590)", "pathway_count": 7, "publication_count": 51, "publication_id_list": "10440375;10620514;11001057;11015561;11017172;11027560;11068039;11237011;11242046;11483314;11756489;12519779;12750892;1339386;15526345;15935055;16116111;16616430;16722236;17301226;17478680;17766642;17891149;17989281;18215623;18617632;19375301;21697133;21785414;23363473;24578174;24722188;26539891;27866231;28108469;28422131;2892215;29118371;3214421;32401194;34087483;36215666;7553862;7823026;8071310;8095030;8211186;9260930;9701566;9753324;9853440", "class_list": "", "function": "Data define CPLX1 as a PD risk factor and provide functional insights into the role and regulation of blood SNCA levels. The new blood biomarkers of PARK4 in this Turkish family might become useful for PD prediction, [RefSeq, PubMed]; Findings do not support microRNA137 (MIR137) and complexin 1 (CPLX1) conferring susceptibility to schizophrenia in Han Chinese. Publication Status: Online-Only, [RefSeq, PubMed]; Homozygous CPLX1 variants were identified in three patients with severe infantile myoclonic epilepsy and ID., [RefSeq, PubMed]; Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles (PubMed:21785414). Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse (PubMed:21785414). Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior., [UniProtKB, UniProtKB, PubMed]; Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008]., [RefSeq]; Synergistic roles of Synaptotagmin-1 and complexin in calcium-regulated neuronal exocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; This study demonstrated that complexin-I influence cognitive function in early and late stages of Alzheimer's disease., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A6NI80;B2R4R5;D3DVN3;F1T0G1", "ec_number_list": "", "go_molecular_function": "GO:0000149 SNARE binding;GO:0017075 syntaxin-1 binding;GO:0019905 syntaxin binding", "go_cellular_component": "GO:0070032 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex;GO:0070554 synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex;GO:0098978 glutamatergic synapse;GO:0044305 calyx of Held;GO:0005829 cytosol", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0050804 modulation of chemical synaptic transmission;GO:0006887 exocytosis;GO:0030073 insulin secretion;GO:0031630 regulation of synaptic vesicle fusion to presynaptic active zone membrane", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O14810-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UQ52-1", "uniprot_id": "CNTN6_HUMAN", "mass": 113956.0, "length": 1028, "protein_name": "Contactin-6", "gene_name": "CNTN6", "organism": "Human", "refseq_name": "contactin-6 isoform 1 precursor", "refseq_ac": "NP_001276009", "gene_names_uniprotkb": "CNTN6", "gene_names_refseq": "CNTN6; NB3", "protein_names_uniprotkb": "Contactin-6; Neural recognition molecule NB-3; hNB-3", "protein_names_refseq": "contactin-6 isoform 1 precursor; neural adhesion molecule; neural recognition molecule NB-3", "tax_id": 9606, "disease": "Hailey-Hailey disease (Disease Ontology:DOID:0050429); autosomal dominant nonsyndromic deafness 82 (Disease Ontology:DOID:0070603); pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714); brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:27255); (R-HSA-447041)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "11237011;16959974;19086053;19509545;19690332;20133774;21220648;24190977;27166760;28641109;29731959;30508811;30836150;32157095;35051231;36010968;37074911;38183624;38253038;9486763", "class_list": "", "function": "CNTN6 copy number variants (duplications) were associated with increased risk of Tourette syndrome., [RefSeq, PubMed]; CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders., [RefSeq, PubMed]; Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway., [RefSeq, PubMed]; Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling., [RefSeq, PubMed]; Contactins mediate cell surface interactions during nervous system development. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Involved in motor coordination (By similarity)., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results do not support the candidacy of CHL1, CNTN6, and CNTN4 as tumor suppressor genes in the 3p26-pter region in ovarian cancer, [RefSeq, PubMed]; The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; This study describes of 2 boys with intellectual disability, attention-deficit hyperactivity disorder harboring a 3p26.3 microdeletion and a 3p26.3 microduplication, which are both paternally inherited and include only the CNTN6 gene., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 7, "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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 90, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 5, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q2KHM2", "ec_number_list": "", "go_molecular_function": "GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0045202 synapse;GO:0042734 presynaptic membrane;GO:0098688 parallel fiber to Purkinje cell synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007219 Notch signaling pathway;GO:0050808 synapse organization;GO:0007417 central nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9UQ52-1", "record_type": "protein" }, { "uniprot_canonical_ac": "H3BRN8-1", "uniprot_id": "PIRC2_HUMAN", "mass": 13763.0, "length": 121, "protein_name": "Piercer of microtubule wall 2 protein", "gene_name": "PIERCE2", "organism": "Human", "refseq_name": "piercer of microtubule wall 2 protein", "refseq_ac": "NP_001185713", "gene_names_uniprotkb": "PIERCE2; C15orf65", "gene_names_refseq": "C14orf65; C15orf65; PIERCE2", "protein_names_uniprotkb": "Piercer of microtubule wall 2 protein", "protein_names_refseq": "piercer of microtubule wall 2 protein; uncharacterized protein C15orf65", "tax_id": 9606, "disease": "", "pathway": " (hsa:145788)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;33968037;36191189", "class_list": "", "function": "Microtubule inner protein involved in the attachment of outer dynein arms (ODAs) to dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0007368 determination of left/right symmetry;GO:0003341 cilium movement;GO:0035082 axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "H3BRN8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRP2-1", "uniprot_id": "COXM2_HUMAN", "mass": 9460.0, "length": 79, "protein_name": "COX assembly mitochondrial protein 2 homolog", "gene_name": "CMC2", "organism": "Human", "refseq_name": "COX assembly mitochondrial protein 2 homolog isoform 1", "refseq_ac": "NP_064573", "gene_names_uniprotkb": "CMC2; C16orf61; DC13", "gene_names_refseq": "2310061C15Rik; C16orf61; CMC2; DC13", "protein_names_uniprotkb": "COX assembly mitochondrial protein 2 homolog", "protein_names_refseq": "C-x(9)-C motif containing 2; COX assembly mitochondrial protein 2 homolog isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56942); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "11237011;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19844255;19962426;20220131;20593814;21424380;21750375;23041349;23597483;23811401;25315652;25576301;25645385;25810538;26154972;26375851;26697887;26992070;27600516;27846572;28228285;28510447;28832583;28834231;29242379;29393594;29493099;29632711;29789417;30315122;31217245;31611695;31844290;31848261;32488085;32938616;33298915;33717175;34405274;34561969;35051231;35580925;36241641", "class_list": "", "function": "May be involved in cytochrome c oxidase biogenesis., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Single nucleotide polymorphisms in C16orf61 gene is associated 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": 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": "D3DUK6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9NRP2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MW5-1", "uniprot_id": "COG8_HUMAN", "mass": 68424.0, "length": 612, "protein_name": "Conserved oligomeric Golgi complex subunit 8", "gene_name": "COG8", "organism": "Human", "refseq_name": "conserved oligomeric Golgi complex subunit 8 isoform 1", "refseq_ac": "NP_115758", "gene_names_uniprotkb": "COG8", "gene_names_refseq": "CDG2H; COG8; DOR1", "protein_names_uniprotkb": "Conserved oligomeric Golgi complex subunit 8; COG complex subunit 8; Component of oligomeric Golgi complex 8", "protein_names_refseq": "COG complex subunit 8; conserved oligomeric Golgi complex subunit 8 isoform 1; conserved oligomeric Golgi complex subunit 8; conserved oligomeric golgi complex component 8; dependent on RIC1", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIh (Disease Ontology:DOID:0070260)", "pathway": " (hsa:84342); (R-HSA-6807878); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 4, "publication_count": 228, "publication_id_list": "10052452;10189370;10209123;10318838;10445031;10559959;10637310;10652308;10652516;10679020;10761932;10865125;10903204;10921873;10990452;11035033;11172815;11237011;11285137;11303027;11306556;11346801;11359012;11461920;11689439;11689559;11703931;11703943;11718716;11726511;11748249;11827983;11839770;12011112;12047556;12070132;12377769;12383348;12388752;12429822;12620188;12620189;12634853;14580338;14654841;14718928;14742712;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16129887;1631136;16571679;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17220172;17253781;17274799;17331980;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18086915;18182008;18195106;18243103;18256213;18283113;18367545;18451304;18452278;18524849;18664496;18809720;18946081;1898986;19015319;19109418;19164740;19296914;19490898;19536132;1957170;19620288;19631211;19715559;19758564;20163571;20357002;20427317;20637885;20685960;20874812;21183348;21219331;21421921;21436057;21689688;21807881;21844168;22013193;22094269;22188167;22304919;22335553;22354037;22581368;22717455;23091056;23239882;23378023;23437303;23462996;23839779;23936529;23940353;24119662;24366607;24715725;24794632;24806965;25343031;25436559;25492864;25708460;25880248;26154972;26992070;28619360;28904123;29437277;29467253;29493099;29557506;31492838;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35154160;35580925;36010968;36284347;36581221;7691276;7909812;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8670882;8945478;8991093;9050864;9114004;9150144;9177194;9230071;9244307;9288971;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "glycogene", "function": "Required for normal Golgi function., [UniProtKB]; TMEM-COG4, COG7 and COG8 subunits restore endogenous COG localization to the Golgi membranes, [RefSeq, PubMed]; The exome sequencing was performed to screen all CDG type II-related genes, and two novel frameshift mutations were found: c.171dupG (p.Leu58Alafs*29) and c.1656dupC (p.Ala553Argfs*15) in COG8., [RefSeq, PubMed]; This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 830, "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": "Q0VAK2;Q8WVV6;Q9H6F8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane;GO:0017119 Golgi transport complex", "go_biological_process": "GO:0015031 protein transport;GO:0007030 Golgi organization;GO:0000301 retrograde transport, vesicle recycling within Golgi;GO:0006891 intra-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "Q96MW5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75881-1", "uniprot_id": "CP7B1_HUMAN", "mass": 58256.0, "length": 506, "protein_name": "Cytochrome P450 7B1", "gene_name": "CYP7B1", "organism": "Human", "refseq_name": "cytochrome P450 7B1 isoform 1", "refseq_ac": "NP_004811", "gene_names_uniprotkb": "CYP7B1", "gene_names_refseq": "CBAS3; CP7B; CYP7B1; SPG5A", "protein_names_uniprotkb": "Cytochrome P450 7B1; 1.14.14.26; 1.14.14.29; 24-hydroxycholesterol 7-alpha-hydroxylase; 25/26-hydroxycholesterol 7-alpha-hydroxylase; 3-hydroxysteroid 7-alpha hydroxylase; Oxysterol 7-alpha-hydroxylase", "protein_names_refseq": "24-hydroxycholesterol 7-alpha-hydroxylase; 25-hydroxycholesterol 7-alpha-hydroxylase; 25/26-hydroxycholesterol 7-alpha-hydroxylase; 3-hydroxysteroid 7-alpha hydroxylase; cytochrome P450 7B1 isoform 1; cytochrome P450 7B1; cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1; oxysterol 7-alpha-hydroxylase", "tax_id": 9606, "disease": "spastic cerebral palsy (Disease Ontology:DOID:0050669); alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); hereditary spastic paraplegia 5A (Disease Ontology:DOID:0110810); congenital bile acid synthesis defect 3 (Disease Ontology:DOID:0111070); developmental and epileptic encephalopathy 89 (Disease Ontology:DOID:0112223); alcohol use disorder (Disease Ontology:DOID:1574); drug psychosis (Disease Ontology:DOID:1742); epilepsy (Disease Ontology:DOID:1826); anxiety disorder (Disease Ontology:DOID:2030); transient cerebral ischemia (Disease Ontology:DOID:224); morphine dependence (Disease Ontology:DOID:2560); bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419); amphetamine abuse (Disease Ontology:DOID:670); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:9420); (R-HSA-192105); (R-HSA-193368); (R-HSA-193807); (R-HSA-211976); (R-HSA-5579013)", "pathway_count": 6, "publication_count": 94, "publication_id_list": "10051404;10092594;10479480;10588945;10655068;10749848;11060344;11067870;11158055;11555828;11673457;11802775;11980911;12679481;1400444;15042513;1708392;1741400;17428193;18252231;18855023;19439420;19661213;20149798;2019602;21214876;21636783;22544926;2256920;22772592;23428468;23481700;23830809;2384150;24117163;24209621;24366607;24491228;24742681;25418920;25576301;25880248;2592361;26154972;26714052;26715851;27217339;27846572;28228285;28904123;29242379;29437277;29557506;3024157;30315122;3038528;30410026;30429286;31154438;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32502341;32983136;33298915;33912179;33968037;34087483;34357683;34493281;34509645;3487786;34932366;34946825;35051231;35580925;38382532;7508385;7649182;8034703;8387517;8619637;8902629;8943006;9536209;9578606;9660774;9802883;9852097", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (PubMed:10588945, PubMed:24491228). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:10588945, PubMed:24491228). Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position (PubMed:10588945, PubMed:24491228). Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3-hydroxy steroid 7-alpha hydroxylase (PubMed:24491228). Hydroxylates oxysterols, including 25-hydroxycholesterol and (25R)-cholest-5-ene-3beta,26-diol toward 7-alpha hydroxy derivatives, which may be transported to the liver and converted to bile acids (PubMed:10588945, PubMed:9802883). Via its product 7-alpha,25-dihydroxycholesterol, a ligand for the chemotactic G protein-coupled receptor GPR183/EBI2, regulates B cell migration in germinal centers of lymphoid organs, thus guiding efficient maturation of plasma B cells and overall antigen-specific humoral immune response (By similarity). 7-alpha hydroxylates neurosteroids, including 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone) and pregnenolone, both involved in hippocampus-associated memory and learning (PubMed:24491228). Metabolizes androstanoids toward 6- or 7-alpha hydroxy derivatives (PubMed:24491228)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; CYP7B1-mediated 25-hydroxycholesterol degradation maintains quiescence-activation balance and improves therapeutic potential of mesenchymal stem cells., [RefSeq, PubMed]; Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations. Publication Status: Online-Only, [RefSeq, PubMed]; The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 19, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RN07;Q9UNF5", "ec_number_list": "1.14.14.26;1.14.14.29;1.14.14.23;2.3.1.48", "go_molecular_function": "GO:0008396 oxysterol 7-alpha-hydroxylase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0008395 steroid hydroxylase activity;GO:0033782 24S-hydroxycholesterol 7-alpha-hydroxylase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0008203 cholesterol metabolic process;GO:0042632 cholesterol homeostasis;GO:0035754 B cell chemotaxis;GO:0016125 sterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "O75881-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94779-1", "uniprot_id": "CNTN5_HUMAN", "mass": 120686.0, "length": 1100, "protein_name": "Contactin-5", "gene_name": "CNTN5", "organism": "Human", "refseq_name": "contactin-5 isoform 1 precursor", "refseq_ac": "NP_001230199", "gene_names_uniprotkb": "CNTN5", "gene_names_refseq": "CNTN5; HNB-2s; NB-2", "protein_names_uniprotkb": "Contactin-5; Neural recognition molecule NB-2; hNB-2", "protein_names_refseq": "contactin-5 isoform 1 precursor; neural adhesion molecule; neural recognition molecule NB-2", "tax_id": 9606, "disease": "Brody myopathy (Disease Ontology:DOID:0050692); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114)", "pathway": " (hsa:53942); (R-HSA-163125)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "11013081;11072085;11237011;17903304;20133774;23481700;2443973;24707144;30747104;31289104;33392160;34087483;3422494;35051231;36583624", "class_list": "", "function": "Characterization of the contactin 5 protein and its risk-associated polymorphic variant throughout the Alzheimer's disease spectrum., [RefSeq, PubMed]; Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity in the cerebral cortical neurons but not in hippocampal neurons. Probably involved in neuronal activity in the auditory system (By similarity)., [UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Rs1568885 and rs1813443, but not rs4411591 polymorphisms are associated with clinical and biochemical response to infliximab in Greek patients with Crohn's disease, [RefSeq, PubMed]; The most compelling new results revealed a consistent spontaneous network hyperactivity in neurons deficient for CNTN5 or EHMT2. Publication Status: Online-Only, [RefSeq, PubMed]; The present study revealed three gout specific loci, CNTN5, MIR302F, ZNF724, to be clearly associated with mechanisms of gout development, which distinctly differ from the known gout risk loci that basically elevate serum uric acid level. This meta-analysis is the first to reveal the loci associated with crystal-induced inflammation, the last step in gout development that aggravates asymptomatic hyperuricaemia into gout., [RefSeq, PubMed]; The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 10, "predicted_n_glycosites": 9, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 95, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A1L4P0;B7ZM07;E9PKE8;O94780;Q49AF3", "ec_number_list": "", "go_molecular_function": "GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0030424 axon;GO:0042734 presynaptic membrane", "go_biological_process": "GO:0099054 presynapse assembly;GO:0098609 cell-cell adhesion;GO:0007420 brain development;GO:0007411 axon guidance;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O94779-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94983-1", "uniprot_id": "CMTA2_HUMAN", "mass": 131530.0, "length": 1202, "protein_name": "Calmodulin-binding transcription activator 2", "gene_name": "CAMTA2", "organism": "Human", "refseq_name": "calmodulin-binding transcription activator 2 isoform 2", "refseq_ac": "NP_001164637", "gene_names_uniprotkb": "CAMTA2; KIAA0909", "gene_names_refseq": "CAMTA2", "protein_names_uniprotkb": "Calmodulin-binding transcription activator 2", "protein_names_refseq": "calmodulin-binding transcription activator 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23125)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;11925432;15138581;23481700;25418920;25880248;26375851;26992070;29110692;29493099;29557506;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33392160;33717175;33968037;33981976;34171305;34185709;34932366;35051231;35494241;35580925;36010968;36241641;36284347", "class_list": "", "function": "Mutation of CAMTA2 resulting in post-transcriptional inhibition of its own gene activity likely underlies a novel syndromic tremulous dystonia. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]., [RefSeq]; Transcription activator. May act as tumor suppressor., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EGL0;D3DTL5;E7EWU5;Q7Z6M8;Q8N3V0;Q8NDG4;Q96G17", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0042826 histone deacetylase binding;GO:0003690 double-stranded DNA binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0014898 cardiac muscle hypertrophy in response to stress", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "O94983-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07333-1", "uniprot_id": "CSF1R_HUMAN", "mass": 107984.0, "length": 972, "protein_name": "Macrophage colony-stimulating factor 1 receptor", "gene_name": "CSF1R", "organism": "Human", "refseq_name": "macrophage colony-stimulating factor 1 receptor isoform a precursor", "refseq_ac": "NP_001275634", "gene_names_uniprotkb": "CSF1R; FMS", "gene_names_refseq": "BANDDOS; C-FMS; CD115; CSF-1R; CSF1R; CSFR; FIM2; FMS; GPSC; HDLS1; HDLS; M-CSF-R", "protein_names_uniprotkb": "Macrophage colony-stimulating factor 1 receptor; 2.7.10.1; CSF-1 receptor; CSF-1-R; CSF-1R; M-CSF-R; Proto-oncogene c-Fms", "protein_names_refseq": "CD115 antigen; CSF-1 receptor; FMS proto-oncogene; McDonough feline sarcoma viral (v-fms) oncogene homolog; macrophage colony stimulating factor I receptor; macrophage colony-stimulating factor 1 receptor isoform a precursor; proto-oncogene c-Fms", "tax_id": 9606, "disease": "CSF1R-related brain malformation and osteopetrosis (Disease Ontology:DOID:0070343); bone development disease (Disease Ontology:DOID:0080006); colorectal carcinoma (Disease Ontology:DOID:0080199); adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (Disease Ontology:DOID:0080523); stomach cancer (Disease Ontology:DOID:10534); crescentic glomerulonephritis (Disease Ontology:DOID:13139); lung cancer (Disease Ontology:DOID:1324); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); colon adenocarcinoma (Disease Ontology:DOID:234); carcinoma (Disease Ontology:DOID:305); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); renal cell carcinoma (Disease Ontology:DOID:4450); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); liver cirrhosis (Disease Ontology:DOID:5082); infertility (Disease Ontology:DOID:5223); lung small cell carcinoma (Disease Ontology:DOID:5409); nephrolithiasis (Disease Ontology:DOID:585); lymphopenia (Disease Ontology:DOID:614); hepatocellular carcinoma (Disease Ontology:DOID:684); prostate carcinoma in situ (Disease Ontology:DOID:8634); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); nasopharynx carcinoma (Disease Ontology:DOID:9261); diabetes mellitus (Disease Ontology:DOID:9351); brain abnormalities, neurodegeneration, and dysosteosclerosis (MONDO:MONDO:0032772)", "pathway": " (hsa:1436); (R-HSA-449836); (R-HSA-8853884); (R-HSA-9680350)", "pathway_count": 4, "publication_count": 133, "publication_id_list": "10201372;10318916;10340379;10395686;10438516;11237011;11850825;12469119;12558796;12580961;12882960;1334462;15117969;15297464;15519852;16170366;16335952;16337366;16488976;16492764;16648572;17121910;17132624;17292918;17344846;1833648;18342505;18467591;18593464;18687298;18814279;19132917;19193011;19369195;19934330;20028861;20137931;20156689;20489731;20504948;20829061;21049007;21266043;21325273;2147944;21670496;2168557;21716315;2196173;22153499;22197934;22483114;22974529;23090970;23291588;23408870;23719902;23744080;23783831;23924795;24019961;2421165;24336230;24532199;24706756;24715725;24890514;2524025;2524648;25662098;26029847;26095744;26235028;26992070;27397612;27543614;27862975;29242379;29391424;29557506;29786170;29796177;30136118;30192525;30429286;30982608;30982609;31154438;31827782;31844290;31848261;32157095;32162841;32350084;32387766;32938616;32983136;33123756;33141586;33392160;33936100;34357683;34509645;35051231;35154160;3525854;3532121;35494241;35580925;36228153;36284347;37074911;37938771;38576039;38870011;39031193;39182279;4028159;7597091;7615501;7681396;7683918;7730365;7737969;7805849;7845678;8355686;8981370;9027509;9191055;9225065;9312046;9422780", "class_list": "", "function": "An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Heterozygous missense CSF1R variants hamper in vitro CD34+-derived dendritic cell generation but not in vivo dendritic cell development., [RefSeq, PubMed]; Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)., [RefSeq, PubMed]; The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]., [RefSeq]; Tyrosine-protein kinase that acts as a cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of pro-inflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone and tooth development. Required for normal male and female fertility, and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding, including the ERK1/2 and the JNK pathway (PubMed:20504948, PubMed:30982609). Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1. Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members STAT3, STAT5A and/or STAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is down-regulated by protein phosphatases, such as INPP5D/SHIP-1, that dephosphorylate the receptor and its downstream effectors, and by rapid internalization of the activated receptor. In the central nervous system, may play a role in the development of microglia macrophages (PubMed:30982608)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Unifying considerations and evidence of macrophage activation mosaicism through human CSF1R and M1/M2 genes., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 16, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 106, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 32, "disease_count": 29, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B5A955;D3DQG2;Q6LDW5;Q6LDY4;Q86VW7", "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;3.1.4.11;2.3.2.27;2.7.1.32;2.7.1.82;2.7.10.4;2.7.11.13;3.1.3.48;2.7.11.23;3.1.3.56;3.1.3.36", "go_molecular_function": "GO:0005011 macrophage colony-stimulating factor receptor activity;GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0019838 growth factor binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:1990682 CSF1-CSF1R complex;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex", "go_biological_process": "GO:0021879 forebrain neuron differentiation;GO:0030316 osteoclast differentiation;GO:0038145 macrophage colony-stimulating factor signaling pathway;GO:0045124 regulation of bone resorption;GO:0060603 mammary gland duct morphogenesis", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "P07333-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09603-1", "uniprot_id": "CSF1_HUMAN", "mass": 60179.0, "length": 554, "protein_name": "Macrophage colony-stimulating factor 1", "gene_name": "CSF1", "organism": "Human", "refseq_name": "macrophage colony-stimulating factor 1 isoform b precursor", "refseq_ac": "NP_757349", "gene_names_uniprotkb": "CSF1", "gene_names_refseq": "CSF-1; CSF1; MCSF; PG-M-CSF", "protein_names_uniprotkb": "Macrophage colony-stimulating factor 1; CSF-1; Lanimostim; M-CSF; MCSF; PG-M-CSF; Proteoglycan macrophage colony-stimulating factor", "protein_names_refseq": "CSF1-hERV-LTR71B fusion protein; colony stimulating factor 1 (macrophage); lanimostim; macrophage colony stimulating factor 1; macrophage colony-stimulating factor 1 isoform b precursor; proteoglycan macrophage colony-stimulating factor", "tax_id": 9606, "disease": "left ventricular failure (Disease Ontology:DOID:0051064); CST3-related cerebral amyloid angiopathy (Disease Ontology:DOID:0070027); lupus nephritis (Disease Ontology:DOID:0080162); COVID-19 (Disease Ontology:DOID:0080600); age related macular degeneration 11 (Disease Ontology:DOID:0110023); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); intracranial aneurysm (Disease Ontology:DOID:10941); iron deficiency anemia (Disease Ontology:DOID:11758); Guillain-Barre syndrome (Disease Ontology:DOID:12842); osteopetrosis (Disease Ontology:DOID:13533); polyneuropathy (Disease Ontology:DOID:1389); interstitial cystitis (Disease Ontology:DOID:13949); breast cancer (Disease Ontology:DOID:1612); atherosclerosis (Disease Ontology:DOID:1936); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); endometriosis (Disease Ontology:DOID:289); glomerulonephritis (Disease Ontology:DOID:2921); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); peripheral vascular disease (Disease Ontology:DOID:341); systemic scleroderma (Disease Ontology:DOID:418); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); kidney disease (Disease Ontology:DOID:557); congestive heart failure (Disease Ontology:DOID:6000); end stage renal disease (Disease Ontology:DOID:783); amyloidosis (Disease Ontology:DOID:9120); type 2 diabetes mellitus (Disease Ontology:DOID:9352); vesicoureteral reflux (Disease Ontology:DOID:9620); pulmonary emphysema (Disease Ontology:DOID:9675); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1435); (R-HSA-381426); (R-HSA-449836); (R-HSA-6783783); (R-HSA-8957275); (R-HSA-9680350); (R-HSA-9856649)", "pathway_count": 7, "publication_count": 252, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10026136;10077652;10092818;10218588;10395686;10415057;10433356;10438516;10512690;10567402;10611221;10614670;10655586;10673502;10681634;10810289;10898936;10912521;10951195;10990447;11027551;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;11840323;11891324;11912130;11930005;12241545;12379487;12466191;12469119;12554859;12558796;12626585;12810533;12832402;12882960;12904166;1334462;1370451;1383255;1455231;1460289;14975237;15118077;15126567;15226305;15308688;1531650;15469690;15485880;15507434;15519852;15525596;15642270;15919823;16014379;16034366;16337366;16488976;16492764;16822840;16982608;1698554;17047378;17249697;17312271;1748288;17623675;1791839;17985932;18467591;18644867;18687298;1940369;1940799;19524539;19608861;19651622;19934330;20145033;20460180;20489731;20504948;20829061;21049007;2147944;21486943;21716315;2196173;21965087;22153499;22171320;22483114;22647378;23090970;23159739;23190890;23207919;23234360;23291588;23584533;23688065;23744080;24190977;2460758;24714562;24743777;2476804;2479552;24890514;25248477;25502872;25595898;25662098;25813380;26029847;26091039;26095744;26235028;2660794;26992070;27128622;27846572;28394346;28467828;28832583;28904123;29242379;29295999;29557506;2996129;3039346;30459171;30804224;31154438;31611695;31848261;32157095;32350084;32488085;3259875;32636443;3264877;32938616;32983136;33141586;33298915;33592498;33744299;33968037;34140478;34357683;34433824;3493529;3498652;3500041;35051231;35154160;35251023;35580925;37074911;37770430;38142781;38159254;39342173;5338216;7510216;7512027;7512451;7516408;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7543512;7588299;7593617;7594602;7597091;7615501;7681396;7683646;7684412;7687627;7689487;7737969;7805849;7902377;7958932;8051056;8063757;8102388;8120391;8163946;8186324;8262907;8301137;8336698;8355686;8422357;8537680;8662928;8734788;8742066;8781553;8817670;8871669;8894645;8897595;8910398;8921438;8946277;8964575;8981370;9013939;9199364;9225065;9312047;9353119;9354687;9422780;9440696;9449724;9497324;9550426;9560246;9676189;9709957;9733769;9760192;9786878;9794440;9836587;9918218;9922210;9973413", "class_list": "", "function": "Adenine is an anti-inflammatory metabolite found to be more abundant in M-CSF over GM-CSF-differentiated human macrophages., [RefSeq, PubMed]; CSF1 is expressed by the intestinal epithelial cells to regulate Mphi macrophages and maintain epithelial homeostasis and is downregulated in neonates with necrotizing enterocolitis. Publication Status: Online-Only, [RefSeq, PubMed]; Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of pro-inflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male and female fertility. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration. Plays a role in lipoprotein clearance., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; M-CSF secreted by gastric cancer cells exacerbates the progression of gastric cancer by increasing the expression of SHP2 in tumor-associated macrophages., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 44, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 45, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 45, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 7, "disease_count": 33, "glyco_site_count": 48, "binding_glycan_count": 0, "secondary_ac_list": "A8K6J5;Q13130;Q14086;Q14806;Q5VVF3;Q5VVF4;Q9UQR8", "ec_number_list": "", "go_molecular_function": "GO:0005157 macrophage colony-stimulating factor receptor binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:1990682 CSF1-CSF1R complex;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0003006 developmental process involved in reproduction;GO:0010743 regulation of macrophage derived foam cell differentiation;GO:0030316 osteoclast differentiation;GO:0032946 positive regulation of mononuclear cell proliferation;GO:0038145 macrophage colony-stimulating factor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 30.8, "record_id": "P09603-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11511-1", "uniprot_id": "CP19A_HUMAN", "mass": 57883.0, "length": 503, "protein_name": "Aromatase", "gene_name": "CYP19A1", "organism": "Human", "refseq_name": "aromatase", "refseq_ac": "NP_000094", "gene_names_uniprotkb": "CYP19A1; ARO1; CYAR; CYP19", "gene_names_refseq": "ARO1; ARO; CPV1; CYAR; CYP19A1; CYP19; CYPXIX; P-450AROM", "protein_names_uniprotkb": "Aromatase; 1.14.14.14; CYPXIX; Cytochrome P-450AROM; Cytochrome P450 19A1; Estrogen synthase", "protein_names_refseq": "aromatase; cytochrome P-450AROM; cytochrome P450 19A1; cytochrome P450, family 19, subfamily A, polypeptide 1; cytochrome P450, subfamily XIX (aromatization of androgens); estrogen synthase; estrogen synthetase; flavoprotein-linked monooxygenase; microsomal monooxygenase", "tax_id": 9606, "disease": "autosomal recessive cutis laxa type IA (Disease Ontology:DOID:0070135); autosomal dominant cutis laxa 2 (Disease Ontology:DOID:0070136); aromatase excess syndrome (Disease Ontology:DOID:0090122); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); age related macular degeneration (Disease Ontology:DOID:10871); osteoporosis (Disease Ontology:DOID:11476); polycystic ovary syndrome (Disease Ontology:DOID:11612); protein-energy malnutrition (Disease Ontology:DOID:11801); urethral obstruction (Disease Ontology:DOID:12577); Sjogren's syndrome (Disease Ontology:DOID:12894); endometrial cancer (Disease Ontology:DOID:1380); bladder neck obstruction (Disease Ontology:DOID:13948); hypothyroidism (Disease Ontology:DOID:1459); prostatitis (Disease Ontology:DOID:14654); breast cancer (Disease Ontology:DOID:1612); disorder of sexual development (Disease Ontology:DOID:1923); ovarian cancer (Disease Ontology:DOID:2394); endometriosis (Disease Ontology:DOID:289); cutis laxa (Disease Ontology:DOID:3144); placental insufficiency (Disease Ontology:DOID:3891); esophagus adenocarcinoma (Disease Ontology:DOID:4914); prostate carcinoma in situ (Disease Ontology:DOID:8634); aromatase deficiency (MONDO:MONDO:0013301)", "pathway": " (hsa:1588); (R-HSA-193144); (R-HSA-211976); (R-HSA-5579030)", "pathway_count": 4, "publication_count": 95, "publication_id_list": "10588945;10956405;11237011;11555828;11895893;11916629;12404296;12697717;1371509;14715828;15042513;16332571;16604491;16964243;17067289;1708392;1741400;1825337;18452278;18822378;18987736;19027824;19129847;19413330;19469636;19556341;19661213;20052540;20133979;20149798;20385561;2040633;2149502;21636783;2171939;2256920;22772592;22773874;22792371;24705274;24715725;2541021;25418920;25577493;2592361;26230928;26811146;2691883;26929215;27657680;27702664;28063628;2808431;2848247;28855257;28904123;29393594;29632046;2973313;3018730;3024157;3038528;30779550;31154438;31741759;31844290;32265295;32350084;32357974;32387766;32938616;32983136;3390233;3487786;35051231;35251023;3653507;38338720;38703512;38717933;39086208;3964273;7336466;7690033;8076586;8099587;8117272;8265607;8530621;8619637;9211678;9352581;9536209;9578606;9783542", "class_list": "", "function": "A cytochrome P450 monooxygenase that catalyzes the conversion of C19 androgens, androst-4-ene-3,17-dione (androstenedione) and testosterone to the C18 estrogens, estrone and estradiol, respectively (PubMed:27702664, PubMed:2848247). Catalyzes three successive oxidations of C19 androgens: two conventional oxidations at C19 yielding 19-hydroxy and 19-oxo/19-aldehyde derivatives, followed by a third oxidative aromatization step that involves C1-beta hydrogen abstraction combined with cleavage of the C10-C19 bond to yield a phenolic A ring and formic acid (PubMed:20385561). Alternatively, the third oxidative reaction yields a 19-norsteroid and formic acid. Converts dihydrotestosterone to delta1,10-dehydro 19-nordihydrotestosterone and may play a role in homeostasis of this potent androgen (PubMed:22773874). Also displays 2-hydroxylase activity toward estrone (PubMed:22773874). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:20385561, PubMed:22773874)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; CYP19A1 Expression Is Controlled by mRNA Stability of the Upstream Transcription Factor AP-2gamma in Placental JEG3 Cells., [RefSeq, PubMed]; CYP19A1 polymorphisms and bladder cancer risk in the Chinese Han population., [RefSeq, PubMed]; Charged Amino Acids in the Transmembrane Helix Strongly Affect the Enzyme Activity of Aromatase. Publication Status: Online-Only, [RefSeq, PubMed]; Small angle scattering reveals the orientation of cytochrome P450 19A1 in lipoprotein nanodiscs., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 25, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q16731;Q3B764;Q58FA0;Q8IYJ7", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.14;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-", "go_molecular_function": "GO:0070330 aromatase activity;GO:0005506 iron ion binding;GO:0009055 electron transfer activity;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006710 androgen catabolic process;GO:2000866 positive regulation of estradiol secretion;GO:0006949 syncytium formation;GO:0032355 response to estradiol;GO:0016125 sterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P11511-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P12107-1", "uniprot_id": "COBA1_HUMAN", "mass": 181065.0, "length": 1806, "protein_name": "Collagen alpha-1(XI) chain", "gene_name": "COL11A1", "organism": "Human", "refseq_name": "collagen alpha-1(XI) chain isoform E preproprotein", "refseq_ac": "NP_001177638", "gene_names_uniprotkb": "COL11A1; COLL6", "gene_names_refseq": "CO11A1; COL11A1; COLL6; DFNA37; STL2", "protein_names_uniprotkb": "Collagen alpha-1(XI) chain", "protein_names_refseq": "collagen XI, alpha-1 polypeptide; collagen alpha-1(XI) chain isoform E preproprotein; collagen alpha-1(XI) chain; collagen, type XI, alpha 1; deafness, autosomal dominant 37", "tax_id": 9606, "disease": "fibrochondrogenesis (Disease Ontology:DOID:0060465); autosomal dominant nonsyndromic deafness 37 (Disease Ontology:DOID:0070601); Stickler syndrome (Disease Ontology:DOID:0080046); fibrochondrogenesis 1 (Disease Ontology:DOID:0080672); Stickler syndrome 2 (Disease Ontology:DOID:0080675); X-linked nephrogenic diabetes insipidus (Disease Ontology:DOID:0081060); Marshall syndrome (Disease Ontology:DOID:0111510); nephrogenic syndrome of inappropriate antidiuresis (Disease Ontology:DOID:0112121); hypertension (Disease Ontology:DOID:10763); nephrogenic diabetes insipidus (Disease Ontology:DOID:12387); ureteral obstruction (Disease Ontology:DOID:5199); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:1301); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-2022090); (R-HSA-3000171); (R-HSA-8874081); (R-HSA-8948216); (R-HSA-9925563)", "pathway_count": 8, "publication_count": 130, "publication_id_list": "10.1101/2023.09.13.557529;10049780;10479448;10486316;10521801;10551873;10596943;10809722;10934207;10966814;11013208;11119712;11237011;11577169;11847221;11927537;12473679;12475640;12482924;12579531;12646579;1323838;1400327;14500733;14602708;15005656;15044469;15257288;15265795;1577494;15837520;15950618;16591531;16782899;16806867;16825197;1690726;16959974;1704217;17088321;171650;17574028;18487197;18622425;19075007;19693541;2005102;20470363;20513134;20802513;21035103;21081667;21593211;2169335;21878990;21935455;21967573;22241472;22322826;22382088;2253219;2307289;24480479;24715725;2537292;2543975;2548603;2551898;25645385;27726376;2834383;2845110;28832583;29242379;29741879;29789417;30245514;3038863;30429286;30459171;30620550;3173483;3182841;32157095;3223920;32350084;32387766;32488085;32938616;32983136;33592498;34171305;34846842;35051231;36010968;36241641;37074911;38253038;38277211;38299479;38649961;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7509446;7721876;7890717;8054685;8207089;8463259;8576151;8872475;8920930;8999957;9008168;9054364;9092507;9417118;9545296;9560306;9582318;9651395;9659899;9659900;9856810", "class_list": "", "function": "Analysis of cancer-associated fibroblasts related genes identifies COL11A1 associated with lung adenocarcinoma prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis. Publication Status: Online-Only, [RefSeq, PubMed]; May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils., [UniProtKB]; Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report., [RefSeq, PubMed]; This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 86, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 12, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B1ASK7;D3DT73;E9PCU0;Q14034;Q149N0;Q9UIT4;Q9UIT5;Q9UIT6", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0046872 metal ion binding;GO:0050840 extracellular matrix binding;GO:0005201 extracellular matrix structural constituent;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005592 collagen type XI trimer", "go_biological_process": "GO:0050910 detection of mechanical stimulus involved in sensory perception of sound;GO:0007601 visual perception;GO:0030199 collagen fibril organization;GO:0007605 sensory perception of sound;GO:0048705 skeletal system morphogenesis", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "P12107-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P22680-1", "uniprot_id": "CP7A1_HUMAN", "mass": 57661.0, "length": 504, "protein_name": "Cytochrome P450 7A1", "gene_name": "CYP7A1", "organism": "Human", "refseq_name": "cytochrome P450 7A1", "refseq_ac": "NP_000771", "gene_names_uniprotkb": "CYP7A1; CYP7", "gene_names_refseq": "CP7A; CYP7A1; CYP7; CYPVII", "protein_names_uniprotkb": "Cytochrome P450 7A1; 1.14.14.23; 1.14.14.26; 24-hydroxycholesterol 7-alpha-hydroxylase; CYPVII; Cholesterol 7-alpha-hydroxylase; Cholesterol 7-alpha-monooxygenase", "protein_names_refseq": "24-hydroxycholesterol 7-alpha-hydroxylase; cholesterol 7-alpha-hydroxylase; cholesterol 7-alpha-monooxygenase; cholesterol 7alpha-hydroxylase; cytochrome P450 7A1; cytochrome P450, family 7, subfamily A, polypeptide 1; cytochrome P450, subfamily VIIA polypeptide 1", "tax_id": 9606, "disease": "Lennox-Gastaut syndrome (Disease Ontology:DOID:0050561); fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); developmental disorder of mental health (Disease Ontology:DOID:0060037); autism spectrum disorder (Disease Ontology:DOID:0060041); developmental and epileptic encephalopathy 43 (Disease Ontology:DOID:0080447); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); morbid obesity (Disease Ontology:DOID:11981); alcoholic hepatitis (Disease Ontology:DOID:12351); cholestasis (Disease Ontology:DOID:13580); extrahepatic cholestasis (Disease Ontology:DOID:13619); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); childhood absence epilepsy (Disease Ontology:DOID:1825); epilepsy (Disease Ontology:DOID:1826); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1581); (R-HSA-192105); (R-HSA-193368); (R-HSA-193807); (R-HSA-1989781); (R-HSA-211976)", "pathway_count": 6, "publication_count": 92, "publication_id_list": "10051404;10092594;10479480;10588945;10655068;10749848;10777541;11013305;11060344;11067870;11158055;11267664;11555828;11673457;11802775;11980911;12077124;12118000;12177166;12505311;12582161;12679481;12721789;1312351;1400444;15042513;15067378;15130092;15635043;15796896;1610352;16380219;16972786;1708392;1741400;17428193;18540824;18719978;18848529;19088433;19661213;19710929;19934321;19965590;20110263;20149798;20166139;2019602;21636783;21813643;2256920;22772592;23428468;23830809;2384150;24196956;24209621;24742681;2592361;26715851;27862975;29557506;3024157;3038528;32983136;34845882;3487786;35526572;35580925;36284347;36949699;38154545;38485279;39894887;7508385;7649182;7685352;7892212;8020987;8034703;8387517;8439551;8619637;8647822;8902629;8943006;9012850;9536209;9578606;9660774;9748239;9852097", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643, PubMed:2384150). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643, PubMed:2384150). Functions as a critical regulatory enzyme of bile acid biosynthesis and cholesterol homeostasis. Catalyzes the hydroxylation of carbon hydrogen bond at 7-alpha position of cholesterol, a rate-limiting step in cholesterol catabolism and bile acid biosynthesis (PubMed:12077124, PubMed:19965590, PubMed:2384150). 7-alpha hydroxylates several oxysterols, including 4beta-hydroxycholesterol and 24-hydroxycholesterol (PubMed:11013305, PubMed:12077124). Catalyzes the oxidation of the 7,8 double bond of 7-dehydrocholesterol and lathosterol with direct and predominant formation of the 7-keto derivatives (PubMed:21813643)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CYP7A1 Gene Induction via SHP-Dependent or Independent Mechanisms can Increase the Risk of Drug-Induced Liver Injury Independently or in Synergy with BSEP Inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Common Genetic Variants in the Bile Acid Synthesis Enzyme CYP7A1 Are Associated With Severe Primary Bile Acid Diarrhea., [RefSeq, PubMed]; Pharmacological modulation of cholesterol 7alpha-hydroxylase (CYP7A1) as a therapeutic strategy for hypercholesterolemia. Review article, [RefSeq, PubMed]; The association of cytochrome 7A1 and ATP-binding cassette G8 genotypes with type 2 diabetes among Jordanian patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]., [RefSeq]; [Cholesterol 7alpha-Hydroxylase Gene-204A/C Polymorphism in Normal and Gestational Diabetic Pregnancies]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P78454;Q3MIL8;Q7KZ19", "ec_number_list": "1.14.14.26;1.14.14.29;1.14.14.23;2.3.1.48;3.6.4.-;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:0008123 cholesterol 7-alpha-monooxygenase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0033782 24S-hydroxycholesterol 7-alpha-hydroxylase activity", "go_cellular_component": "GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0070857 regulation of bile acid biosynthetic process;GO:0006699 bile acid biosynthetic process;GO:0045471 response to ethanol;GO:0045717 negative regulation of fatty acid biosynthetic process;GO:0071333 cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P22680-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P24462-1", "uniprot_id": "CP3A7_HUMAN", "mass": 57470.0, "length": 503, "protein_name": "Cytochrome P450 3A7", "gene_name": "CYP3A7", "organism": "Human", "refseq_name": "cytochrome P450 3A7", "refseq_ac": "NP_000756", "gene_names_uniprotkb": "CYP3A7", "gene_names_refseq": "CP37; CYP3A7; CYPIIIA7; P-450(HFL33); P-450111A7; P450-HFLA; P450HLp2", "protein_names_uniprotkb": "Cytochrome P450 3A7; 1.14.14.1; CYPIIIA7; Cytochrome P450-HFLA; P450HLp2", "protein_names_refseq": "aryl hydrocarbon hydroxylase; cytochrome P450 3A7; cytochrome P450, family 3, subfamily A, polypeptide 7; cytochrome P450, subfamily IIIA, polypeptide 7; cytochrome P450-HFLA; flavoprotein-linked monooxygenase; microsomal monooxygenase; xenobiotic monooxygenase", "tax_id": 9606, "disease": "Opitz GBBB syndrome (Disease Ontology:DOID:0080697); microphthalmia (Disease Ontology:DOID:10629); liver cirrhosis (Disease Ontology:DOID:5082)", "pathway": " (hsa:100861540); (hsa:1551); (R-HSA-211981)", "pathway_count": 3, "publication_count": 35, "publication_id_list": "10383923;11093772;11137287;11266076;12464245;12629583;12865317;14559847;15196988;15365656;15454734;15665333;16359177;17178770;2025243;23481700;2492179;2722762;2786707;29557506;29769354;30779550;31154438;33866277;34171305;34688813;34689350;6220203;7217086;7903454;8647857;8975785;9555064;9644715;9842986", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of steroid hormones and vitamins during embryogenesis (PubMed:11093772, PubMed:12865317, PubMed:14559847, PubMed:17178770, PubMed:9555064). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:11093772, PubMed:12865317, PubMed:14559847, PubMed:17178770, PubMed:9555064). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone, DHEA), a precursor in the biosynthesis of androgen and estrogen steroid hormones (PubMed:17178770, PubMed:9555064). Exhibits high catalytic activity for the formation of hydroxyestrogens from estrone (E1), particularly D-ring hydroxylated estrone at the C16-alpha position (PubMed:12865317, PubMed:14559847). Mainly hydroxylates all trans-retinoic acid (atRA) to 4-hydroxyretinoate and may play a role in atRA clearance during fetal development (PubMed:11093772). Also involved in the oxidative metabolism of xenobiotics including anticonvulsants (PubMed:9555064)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Allele and genotype frequencies of CYP3A4, CYP3A5, CYP3A7, and GSTP1 gene polymorphisms among mainland Tibetan, Mongolian, Uyghur, and Han Chinese populations., [RefSeq, PubMed]; CYP3A7, CYP3A4, and CYP3A5 genetic polymorphisms in recipients rather than donors influence tacrolimus concentrations in the early stages after liver transplantation., [RefSeq, PubMed]; Development of template systems for ligand interactions of CYP3A5 and CYP3A7 and their distinctions from CYP3A4 template., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D288;Q9H241", "ec_number_list": "1.14.14.1;1.14.13.-;4.2.1.152;1.14.14.19;1.14.14.32;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.14;1.14.14.51;1.14.14.52;1.14.14.53;1.14.14.75;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130;5.3.99.5;1.14.14.25", "go_molecular_function": "GO:0008401 retinoic acid 4-hydroxylase activity;GO:0101020 estrogen 16-alpha-hydroxylase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0008395 steroid hydroxylase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0002933 lipid hydroxylation;GO:0008210 estrogen metabolic process;GO:0042572 retinol metabolic process;GO:0042573 retinoic acid metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P24462-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P26441-1", "uniprot_id": "CNTF_HUMAN", "mass": 22931.0, "length": 200, "protein_name": "Ciliary neurotrophic factor", "gene_name": "CNTF", "organism": "Human", "refseq_name": "ciliary neurotrophic factor", "refseq_ac": "NP_000605", "gene_names_uniprotkb": "CNTF", "gene_names_refseq": "CNTF; HCNTF", "protein_names_uniprotkb": "Ciliary neurotrophic factor; CNTF", "protein_names_refseq": "Ciliary Neuronotrophic Factor; ciliary neurotrophic factor", "tax_id": 9606, "disease": "alternating hemiplegia of childhood (Disease Ontology:DOID:0050635); familial hemiplegic migraine (Disease Ontology:DOID:0060178); developmental and epileptic encephalopathy 99 (Disease Ontology:DOID:0070385); dystonia 12 (Disease Ontology:DOID:0090056); Charcot-Marie-Tooth disease type 2DD (Disease Ontology:DOID:0111558); keratoconus (Disease Ontology:DOID:10126); retinitis pigmentosa (Disease Ontology:DOID:10584); Huntington's disease (Disease Ontology:DOID:12858); disease of mental health (Disease Ontology:DOID:150); alcohol use disorder (Disease Ontology:DOID:1574); glaucoma (Disease Ontology:DOID:1686); epilepsy (Disease Ontology:DOID:1826); multiple sclerosis (Disease Ontology:DOID:2377); bipolar disorder (Disease Ontology:DOID:3312); hyperglycemia (Disease Ontology:DOID:4195); nervous system disease (Disease Ontology:DOID:863); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1270); (R-HSA-6788467)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10391209;10586060;10812968;10966616;11285233;11294841;11834704;11943154;12601009;12707266;12811586;15450249;15519241;16051226;1840538;1861138;1883844;1915374;19920145;21715184;24802752;25645385;2779549;31844290;31932351;33131268;33968037;35585213;35589002;36228153;36930708;7670098;7681218;7738033;7796798;7852997;7862649;7957045;8075647;8119965;8272873;8390097;8627290;8637716;9238703", "class_list": "", "function": "Breast cancer extracellular vesicles-derived miR-1290 activates astrocytes in the brain metastatic microenvironment via the FOXA2-->CNTF axis to promote progression of brain metastases., [RefSeq, PubMed]; Ciliary neurotrophic factor (CNTF) and its receptor (CNTFRalpha) signal through MAPK/ERK pathway in human prostate tissues: a morphological and biomolecular study. Publication Status: Online-Only, [RefSeq, PubMed]; Ciliary neurotrophic factor is increased in the plasma of patients with obesity and its levels correlate with diabetes and inflammation indices. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a cytokine through the ciliary neurotrophic factor receptor (CNTFR) complex (PubMed:10966616, PubMed:11285233, PubMed:11294841, PubMed:31932351, PubMed:36930708). The CNTFR complex indeed consists of the membrane-anchored non-signaling receptor CNTFR and the two signaling receptor subunits IL6ST/gp130 and LIFR that transduce the signal into the cell (PubMed:36930708). Functionally, promotes neuronal survival, supports differentiation of various neuronal and non-neuronal cells, and importantly regulates oligodendrocyte progenitor proliferation (PubMed:1861138, PubMed:1883844, PubMed:31932351). Mechanistically, ligand binding to the CNTFR induces dimerization of the IL6ST/gp130 and LIFR, which activates JAK tyrosine kinases (JAK1 or JAK2 and to lesser extent TYK2) bound to their intracellular domains (PubMed:11294841). These kinases subsequently phosphorylate IL6ST/gp130 and LIFR (PubMed:11294841). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activators of transcription (STAT3 and to lesser extent STAT1) (PubMed:11285233, PubMed:11294841). Can also signal via trans-signaling using soluble forms of CNTFR (PubMed:31932351, PubMed:7681218). Seems to prevent the degeneration of motor axons after axotomy (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a polypeptide hormone whose actions appear to be restricted to the nervous system where it promotes neurotransmitter synthesis and neurite outgrowth in certain neuronal populations. The protein is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. A mutation in this gene, which results in aberrant splicing, leads to ciliary neurotrophic factor deficiency, but this phenotype is not causally related to neurologic disease. A read-through transcript variant composed of the upstream ZFP91 gene and CNTF sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAB2", "ec_number_list": "", "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity;GO:0005138 interleukin-6 receptor binding;GO:0005127 ciliary neurotrophic factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0030424 axon;GO:0043025 neuronal cell body", "go_biological_process": "GO:0048680 positive regulation of axon regeneration;GO:0070120 ciliary neurotrophic factor-mediated signaling pathway;GO:0070446 negative regulation of oligodendrocyte progenitor proliferation;GO:0007165 signal transduction;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P26441-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51589-1", "uniprot_id": "CP2J2_HUMAN", "mass": 57611.0, "length": 502, "protein_name": "Cytochrome P450 2J2", "gene_name": "CYP2J2", "organism": "Human", "refseq_name": "cytochrome P450 2J2", "refseq_ac": "NP_000766", "gene_names_uniprotkb": "CYP2J2", "gene_names_refseq": "CPJ2; CYP2J2; CYPIIJ2", "protein_names_uniprotkb": "Cytochrome P450 2J2; 1.14.14.-; 1.14.14.73; 1.14.14.74; 5.4.4.7; Albendazole monooxygenase (hydroxylating); Albendazole monooxygenase (sulfoxide-forming); Arachidonic acid epoxygenase; CYPIIJ2; Hydroperoxy icosatetraenoate isomerase", "protein_names_refseq": "albendazole monooxygenase (hydroxylating); albendazole monooxygenase (sulfoxide-forming); cytochrome P450 2J2; cytochrome P450, family 2, subfamily J, polypeptide 2; cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2; flavoprotein-linked monooxygenase; hydroperoxy icosatetraenoate isomerase; microsomal monooxygenase", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); pre-eclampsia (Disease Ontology:DOID:10591); renal hypertension (Disease Ontology:DOID:1073); hypertension (Disease Ontology:DOID:10763); nephritis (Disease Ontology:DOID:10952); ureteral obstruction (Disease Ontology:DOID:5199); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); bacterial pneumonia (Disease Ontology:DOID:874)", "pathway": " (hsa:1573); (R-HSA-211935); (R-HSA-211981); (R-HSA-2142670)", "pathway_count": 4, "publication_count": 55, "publication_id_list": "10383923;11162607;11237011;11901223;12386130;12464245;12468260;12629583;15006160;15096040;15196988;15258110;15365656;15454734;15665333;16359177;19737933;19923256;19965576;20058876;2025243;23959307;27862975;29557506;31154438;31848261;32157095;32387766;32502341;32938616;33141586;33335233;33717175;33968037;34087483;34258261;34509645;34774051;35051231;36269280;36284347;36587509;6220203;7217086;7625847;7903454;8631948;8647857;8913342;8914854;8975785;9600267;9644715;9842986;9866708", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) in the cardiovascular system (PubMed:19965576, PubMed:8631948). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:19965576, PubMed:8631948). Catalyzes the epoxidation of double bonds of PUFA (PubMed:19965576, PubMed:8631948). Converts arachidonic acid to four regioisomeric epoxyeicosatrienoic acids (EpETrE), likely playing a major role in the epoxidation of endogenous cardiac arachidonic acid pools (PubMed:8631948). In endothelial cells, participates in eicosanoids metabolism by converting hydroperoxide species into hydroxy epoxy metabolites. In combination with 15-lipoxygenase metabolizes arachidonic acid and converts hydroperoxyicosatetraenoates (HpETEs) into hydroxy epoxy eicosatrienoates (HEETs), which are precursors of vasodilatory trihydroxyicosatrienoic acids (THETAs). This hydroperoxide isomerase activity is NADPH- and O2-independent (PubMed:19737933). Catalyzes the monooxygenation of a various xenobiotics, such as danazol, amiodarone, terfenadine, astemizole, thioridazine, tamoxifen, cyclosporin A and nabumetone (PubMed:19923256). Catalyzes hydroxylation of the anthelmintics albendazole and fenbendazole (PubMed:23959307). Catalyzes the sulfoxidation of fenbedazole (PubMed:19923256)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CYP2C8 and CYP2J2 gene variations increase the risk of hypertensive intracerebral hemorrhage., [RefSeq, PubMed]; CYP2J2 Is a Diagnostic and Prognostic Biomarker Associated with Immune Infiltration in Kidney Renal Clear Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; CYP2J2 and EETs protect against pulmonary arterial hypertension with lung ischemia-reperfusion injury in vivo and in vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Endothelial CYP2J2 overexpression restores the BRB via METTL3-mediated ANXA1 upregulation., [RefSeq, PubMed]; Molecular determinant of substrate binding and specificity of cytochrome P450 2J2. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RD33;Q8TF13", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;5.4.4.7;1.14.14.74;1.14.14.130;5.3.99.5", "go_molecular_function": "GO:0008404 arachidonate 14,15-epoxygenase activity;GO:0008405 arachidonate 11,12-epoxygenase activity;GO:0071614 linoleic acid epoxygenase activity;GO:0005506 iron ion binding;GO:0020037 heme binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006690 icosanoid metabolic process;GO:0006631 fatty acid metabolic process;GO:0043651 linoleic acid metabolic process;GO:0006805 xenobiotic metabolic process;GO:0008016 regulation of heart contraction", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "P51589-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P57737-1", "uniprot_id": "CORO7_HUMAN", "mass": 100605.0, "length": 925, "protein_name": "Coronin-7", "gene_name": "CORO7", "organism": "Human", "refseq_name": "coronin-7 isoform 2", "refseq_ac": "NP_001188401", "gene_names_uniprotkb": "CORO7", "gene_names_refseq": "0610011B16Rik; CORO7; CRN7; POD1", "protein_names_uniprotkb": "Coronin-7; 70 kDa WD repeat tumor rejection antigen homolog; Crn7", "protein_names_refseq": "70 kDa WD repeat tumor rejection antigen homolog; coronin-7 isoform 2", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:79585)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "11237011;15327992;16905771;18581049;18669648;20068231;20112406;21130766;22645359;23481700;24715725;24768539;25418920;25469497;25576301;25880248;25887538;26154972;26375851;26992070;27655845;27846572;27862975;27920218;28063628;28218747;28228285;28352266;28467828;28510447;28832583;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33162394;33298915;33537174;33592498;33633747;33912179;33936100;33968037;34019948;34087483;34211107;34229054;34357683;34725712;34932366;35051231;35580925;38253038;39894887;40307207;40914422", "class_list": "", "function": "Crn7 interacts with AP-1 and is required for the maintenance of Golgi morphology and protein export from the Golgi, [RefSeq, PubMed]; Data show that CRN7 interacted with Cullin1 and Roc1 to form a novel SCF-like E3 complex., [RefSeq, PubMed]; F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via 'Lys-33'-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization, thereby facilitating post-Golgi trafficking. May play a role in the maintenance of the Golgi apparatus morphology., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Obese children had significantly lower methylation levels at a CpG site located near coronin 7 (CORO7), which encodes a tryptophan-aspartic acid dipeptide (WD)-repeat containing protein most likely involved in Golgi complex morphology and function Publication Status: Online-Only, [RefSeq, PubMed]; Results show that enforced targeting of Crn7 to TGN 9trans-Golgi network) bypasses the requirement of K33-ubiquitination for TGN-pool F-actin assembly and post-Golgi trafficking., [RefSeq, PubMed]; Role in the organization of intracellular membrane compartments and vesicular trafficking rather than in remodeling the cytoskeleton, [RefSeq, PubMed]; Sequential events of protein interaction and posttranslational modification result in the membrane targeting of Crn7., [RefSeq, PubMed]; This gene encodes a member of the coronin protein family. However, unlike other coronin proteins, it is not an actin-binding protein but rather functions as an F-actin regulator directing anterograde Golgi to endosome transport. The encoded protein has two tandem WD-40 domain repeats and localizes to the trans-Golgi network. The protein undergoes K33-linked polyubiquitination via an E3 ligase complex. It is thought to play an essential role in maintenance of Golgi apparatus morphology. Alternative splicing results in multiple transcripts variants; some of which form read-through transcripts with a neighboring gene. [provided by RefSeq, Dec 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": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DFD6;B4DL18;I3L416;Q17RK4", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane", "go_biological_process": "GO:0007015 actin filament organization;GO:0015031 protein transport;GO:0016477 cell migration;GO:0030041 actin filament polymerization;GO:0006895 Golgi to endosome transport", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P57737-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P82279-1", "uniprot_id": "CRUM1_HUMAN", "mass": 154183.0, "length": 1406, "protein_name": "Protein crumbs homolog 1", "gene_name": "CRB1", "organism": "Human", "refseq_name": "protein crumbs homolog 1 isoform 2 precursor", "refseq_ac": "NP_001180569", "gene_names_uniprotkb": "CRB1", "gene_names_refseq": "CRB1-A; CRB1-B; CRB1-C; CRB1; LCA8; RP12", "protein_names_uniprotkb": "Protein crumbs homolog 1", "protein_names_refseq": "crumbs 1, cell polarity complex component; crumbs family member 1, photoreceptor morphogenesis associated; protein crumbs homolog 1 isoform 2 precursor; protein crumbs homolog 1", "tax_id": 9606, "disease": "cone-rod dystrophy (Disease Ontology:DOID:0050572); small cell carcinoma (Disease Ontology:DOID:0050685); megacystis-microcolon-intestinal hypoperistalsis syndrome (Disease Ontology:DOID:0060610); prune belly syndrome (Disease Ontology:DOID:0060889); Leber congenital amaurosis 8 (Disease Ontology:DOID:0110079); retinitis pigmentosa 12 (Disease Ontology:DOID:0110358); pigmented paravenous chorioretinal atrophy (Disease Ontology:DOID:0111541); retinitis pigmentosa (Disease Ontology:DOID:10584); Leber congenital amaurosis (Disease Ontology:DOID:14791); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); bladder disease (Disease Ontology:DOID:365); pulmonary fibrosis (Disease Ontology:DOID:3770); retinal disease (Disease Ontology:DOID:5679)", "pathway": " (hsa:23418)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10508521;11231775;11237011;11389483;11559858;11734541;12567265;12573663;12700176;12843338;15024725;15459956;15623792;15691574;15914641;16205573;16936081;16959974;17128490;17438615;17724218;17920587;18055821;18682808;19140180;19956407;20108431;20591486;20683928;20956273;21602930;21987686;22065545;22128245;22334370;28819299;29557506;30120214;30833945;31844290;32387766;33968037;35051231;36010968;36240223;36241641;38570189;38622537", "class_list": "", "function": "Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in photoreceptor morphogenesis in the retina (By similarity). May maintain cell polarization and adhesion (By similarity)., [UniProtKB, UniProtKB]; Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion., [UniProtKB, UniProtKB]; This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]., [RefSeq]", "predicted_glycosites": 24, "predicted_n_glycosites": 23, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 179, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "A2A308;B7Z5T2;B9EG71;Q5K3A6;Q5TC28;Q5VUT1;Q6N027;Q8WWY0;Q8WWY1", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016324 apical plasma membrane;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0060042 retina morphogenesis in camera-type eye;GO:0007267 cell-cell signaling;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;GO:0007163 establishment or maintenance of cell polarity;GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P82279-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q07973-1", "uniprot_id": "CP24A_HUMAN", "mass": 58875.0, "length": 514, "protein_name": "1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial", "gene_name": "CYP24A1", "organism": "Human", "refseq_name": "1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor", "refseq_ac": "NP_000773", "gene_names_uniprotkb": "CYP24A1; CYP24", "gene_names_refseq": "CP24; CYP24A1; CYP24; HCAI; HCINF1; P450-CC24", "protein_names_uniprotkb": "1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial; 1.14.15.16; 24-OHase; Cytochrome P450 24A1; Cytochrome P450-CC24; Vitamin D(3) 24-hydroxylase", "protein_names_refseq": "1,25-@dihydroxyvitamin D3 24-hydroxylase; 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 precursor; 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial; 24-OHase; cytochrome P450 24A1; cytochrome P450, family 24, subfamily A, polypeptide 1; cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase); cytochrome P450-CC24; exo-mitochondrial protein; lncBCAS1-4_1; vitamin D 24-hydroxylase; vitamin D(3) 24-hydroxylase", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); infantile hypercalcemia 1 (Disease Ontology:DOID:0061136); pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714); lung cancer (Disease Ontology:DOID:1324); rectum cancer (Disease Ontology:DOID:1993); colon cancer (Disease Ontology:DOID:219); colon adenocarcinoma (Disease Ontology:DOID:234); asthma (Disease Ontology:DOID:2841); breast carcinoma (Disease Ontology:DOID:3459); ovary adenocarcinoma (Disease Ontology:DOID:3713); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung carcinoma (Disease Ontology:DOID:3905); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); esophagus adenocarcinoma (Disease Ontology:DOID:4914); esophageal cancer (Disease Ontology:DOID:5041); lung small cell carcinoma (Disease Ontology:DOID:5409); ulcerative colitis (Disease Ontology:DOID:8577); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:1591); (R-HSA-196791); (R-HSA-211916); (R-HSA-5579010)", "pathway_count": 4, "publication_count": 63, "publication_id_list": "10052453;10518789;10823918;11012668;11085925;11234559;11717447;11799400;11856765;12227689;12855575;12867411;14532297;15465040;15574355;15647825;15728261;15788398;16617161;17646648;19473635;21595846;21675912;21849106;22564762;22877430;22879719;22918710;23857223;24101867;24569127;24893882;25363733;25727742;26434738;26748501;27250744;27913313;28005175;28206978;28841848;29461981;30779550;30833945;31844290;32938616;33968037;34171305;35051231;36241641;38350553;38504242;38632160;38839691;38963981;7632726;7768901;8266831;8506296;8679605;8706697;9716180;9821970", "class_list": "", "function": "A cytochrome P450 monooxygenase with a key role in vitamin D catabolism and calcium homeostasis. Via C24- and C23-oxidation pathways, catalyzes the inactivation of both the vitamin D precursor calcidiol (25-hydroxyvitamin D(3)) and the active hormone calcitriol (1-alpha,25-dihydroxyvitamin D(3)) (PubMed:11012668, PubMed:15574355, PubMed:16617161, PubMed:24893882, PubMed:29461981, PubMed:8679605). With initial hydroxylation at C-24 (via C24-oxidation pathway), performs a sequential 6-step oxidation of calcitriol leading to the formation of the biliary metabolite calcitroic acid (PubMed:15574355, PubMed:24893882). With initial hydroxylation at C-23 (via C23-oxidation pathway), catalyzes sequential oxidation of calcidiol leading to the formation of 25(OH)D3-26,23-lactone as end product (PubMed:11012668, PubMed:8679605). Preferentially hydroxylates at C-25 other vitamin D active metabolites, such as CYP11A1-derived secosteroids 20S-hydroxycholecalciferol and 20S,23-dihydroxycholecalciferol (PubMed:25727742). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via FDXR/adrenodoxin reductase and FDX1/adrenodoxin (PubMed:8679605)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia. Publication Status: Online-Only, [RefSeq, PubMed]; CYP24A1 affected macrophage polarization through degradation of vitamin D as a candidate biomarker for ovarian cancer prognosis., [RefSeq, PubMed]; Gene expression profiling of vitamin D metabolism enzymes in leukemia and lymphoma patients: molecular aspect interplay of VDR, CYP2R1, and CYP24A1. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-125b regulates vitamin D resistance by targeting CYP24A1 in the progression of gestational diabetes mellitus., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Zika virus infection suppresses CYP24A1 and CAMP expression in human monocytes. 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": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 22, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q15807;Q32ML3;Q5I2W7", "ec_number_list": "1.14.15.16", "go_molecular_function": "GO:0008403 25-hydroxycholecalciferol-24-hydroxylase activity;GO:0030342 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0030343 vitamin D3 25-hydroxylase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006766 vitamin metabolic process;GO:0042359 vitamin D metabolic process;GO:0042369 vitamin D catabolic process;GO:0070561 vitamin D receptor signaling pathway;GO:0001649 osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q07973-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q1MSJ5-3", "uniprot_id": "CSPP1_HUMAN", "mass": 145522.0, "length": 1256, "protein_name": "Centrosome and spindle pole-associated protein 1", "gene_name": "CSPP1", "organism": "Human", "refseq_name": "centrosome and spindle pole-associated protein 1 isoform 2", "refseq_ac": "NP_001278268", "gene_names_uniprotkb": "CSPP1; CSPP", "gene_names_refseq": "CSPP-L; CSPP1; CSPP; JBTS21", "protein_names_uniprotkb": "Centrosome and spindle pole-associated protein 1", "protein_names_refseq": "centrosome and spindle pole-associated protein 1 isoform 2", "tax_id": 9606, "disease": "Joubert syndrome 21 (Disease Ontology:DOID:0110990)", "pathway": " (hsa:79848)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "15580290;16826565;19129481;19690332;20068231;20519441;23186163;23481700;24360803;24360807;24360808;26758079;26992070;27920218;28832583;28904123;29242379;29393594;29493099;30410026;30524438;31217245;31844290;32157095;32265295;32350084;32387766;32453716;32495924;32938616;33141586;33298915;33691108;33717175;33912179;33936100;33968037;33981976;34357683;34509645;35051231;35713481;36752787", "class_list": "", "function": "CSPP interacts with and recruits MyoGEF to the central spindle, where MyoGEF contributes to the spatiotemporal regulation of cytokinesis., [RefSeq, PubMed]; CSPP isoforms require their common C-terminal domain to interact with Nephrocystin 8 (NPHP8/RPGRIP1L) and to form a ternary complex with NPHP8 and NPHP4., [RefSeq, PubMed]; CSPP1 stabilizes growing microtubule ends and damaged lattices from the luminal side., [RefSeq, PubMed]; Circle RNA circCSPP1 promotes human osteosarcoma cell proliferation and increases glucose metabolism by suppressing miR-200c maturation., [RefSeq, PubMed]; May play a role in cell-cycle-dependent microtubule organization., [UniProtKB, PubMed]; Novel centrosome/microtubule-associated coiled-coil protein (CSPP)is associated with centrosomes and microtubules and may play a role in the regulation of G(1)/S-phase progression and spindle assembly [CSPP]., [RefSeq, PubMed]; Roles of circ-CSPP1 on the proliferation and metastasis of glioma cancer., [RefSeq, PubMed]; Taken together, CSPP and CSPP-L interact with centrosomes and microtubules and can differently affect microtubule organization., [RefSeq, PubMed]; This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6ND63;Q70F00;Q8TBC1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005819 spindle;GO:0005874 microtubule;GO:0005929 cilium", "go_biological_process": "GO:0051781 positive regulation of cell division;GO:0032467 positive regulation of cytokinesis", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q1MSJ5-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5IJ48-1", "uniprot_id": "CRUM2_HUMAN", "mass": 134265.0, "length": 1285, "protein_name": "Protein crumbs homolog 2", "gene_name": "CRB2", "organism": "Human", "refseq_name": "protein crumbs homolog 2 precursor", "refseq_ac": "NP_775960", "gene_names_uniprotkb": "CRB2", "gene_names_refseq": "CRB2; FSGS9; VMCKD", "protein_names_uniprotkb": "Protein crumbs homolog 2; Crumbs-like protein 2", "protein_names_refseq": "crumbs 2, cell polarity complex component; crumbs family member 2; crumbs-like protein 2; protein crumbs homolog 2 precursor; protein crumbs homolog 2", "tax_id": 9606, "disease": "Leber congenital amaurosis 8 (Disease Ontology:DOID:0110079); retinitis pigmentosa 12 (Disease Ontology:DOID:0110358); focal segmental glomerulosclerosis 9 (Disease Ontology:DOID:0111134); ventriculomegaly - cystic kidney disease (Disease Ontology:DOID:0111625); retinitis pigmentosa (Disease Ontology:DOID:10584); Leber congenital amaurosis (Disease Ontology:DOID:14791); retinal disease (Disease Ontology:DOID:5679)", "pathway": " (hsa:286204)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "14767562;15851977;17190600;17920587;19664994;20299451;25418920;25557779;25557780;26925547;27004616;27942854;29242379;29473663;29557506;29632711;29671580;30212996;30315122;30429286;30459171;30593785;31154438;31844290;31848261;32051522;33091337;35051231;35580925;36549870;36556986;36803301;37074911;38570189", "class_list": "", "function": "Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo (By similarity). Acts by promoting cell ingression, the process by which cells leave the epithelial epiblast and move inside the embryo to form a new tissue layer (By similarity). The anisotropic distribution of CRB2 and MYH10/myosin-IIB at cell edges define which cells will ingress: cells with high apical CRB2 are probably extruded from the epiblast by neighboring cells with high levels of apical MYH10/myosin-IIB (By similarity). Plays a role in the maintenance of retinal neuroepithelium organization, structural integrity, adhesion, photoreceptor polarity and retinal photoreceptor layer thickness (By similarity). May play a role in determining the length of cone photoreceptor outer segments and proliferation of late-born progenitor cells (By similarity). Also required for maintenance of the apical polarity complex during development of the cortex (By similarity). Inhibits gamma-secretase-dependent cleavage of APP and secretion of amyloid-beta peptide 40 and amyloid-beta peptide 42, and thereby inhibits gamma-secretase-dependent Notch transcription (PubMed:20299451)., [UniProtKB, UniProtKB, PubMed]; Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla. Publication Status: Online-Only, [RefSeq, PubMed]; Crumbs homolog 2 gene maps to human chromosome 9q33.3 GeneRIF: The CRB2 gene encodes a transmembrane protein (1285 aa) and a secreted protein (1176 aa). The transmembrane isoform consists of 14 extracellular EGF-like domains, 3 extracellular laminin G-like domains, and a Crb cytoplasmic tail domain., [RefSeq, PubMed]; Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]., [RefSeq]; This study shows that CRB2 sequence variants are not a common cause of autosomal recessive RP and LCA. Publication Status: Online-Only, [RefSeq, PubMed]; Using X-ray crystallography and NMR spectroscopy, we show that, despite low amino acid sequence conservation, both 53BP1 and Crb2 contain tandem tudor domains that interact with histone H4 specifically dimethylated at Lys20 (H4-K20me2)., [RefSeq, PubMed]", "predicted_glycosites": 14, "predicted_n_glycosites": 11, "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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 8818, "biomarker_type": "", "glycan_count": 6, "disease_count": 7, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A2A3N4;Q0QD46;Q5JS41;Q5JS43;Q6ZTA9;Q6ZWI6", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0044877 protein-containing complex binding;GO:0019828 aspartic-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0010470 regulation of gastrulation;GO:0055111 ingression involved in gastrulation with mouth forming second;GO:0072359 circulatory system development;GO:0007601 visual perception;GO:0045494 photoreceptor cell maintenance", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q5IJ48-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SY13-1", "uniprot_id": "COAS1_HUMAN", "mass": 6588.0, "length": 56, "protein_name": "Putative uncharacterized protein encoded by COL5A1-AS1", "gene_name": "COL5A1-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "COL5A1-AS1; C9orf104", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by COL5A1-AS1; COL5A1 antisense RNA 1; COL5A1 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": "Q5SY13-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6FI81-1", "uniprot_id": "CPIN1_HUMAN", "mass": 33582.0, "length": 312, "protein_name": "Anamorsin", "gene_name": "CIAPIN1", "organism": "Human", "refseq_name": "anamorsin isoform 2", "refseq_ac": "NP_001295276", "gene_names_uniprotkb": "CIAPIN1; CUA001; PRO0915", "gene_names_refseq": "Anamorsin; CIAE2; CIAPIN1; DRE2; PRO0915", "protein_names_uniprotkb": "Anamorsin; Cytokine-induced apoptosis inhibitor 1; Fe-S cluster assembly protein DRE2 homolog", "protein_names_refseq": "anamorsin isoform 2; fe-S cluster assembly protein DRE2 homolog; predicted protein of HQ0915", "tax_id": 9606, "disease": "", "pathway": " (hsa:57019); (R-HSA-2564830)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "11230166;11237011;11483580;14970183;16410721;16957168;17287340;17322306;17924679;17935775;18491316;18573874;18625724;18669648;18767875;19651622;19690332;20068231;20802492;21406692;21700214;22544926;22678361;22678362;23150669;23186163;23301498;23481700;23596212;23989406;24123282;24275569;24366607;24715725;24958902;25418920;25576301;25645385;26154972;26613676;26992070;27519415;27672211;27920218;28218747;28228285;28510447;28832583;29242379;29314611;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30410026;30429286;30484775;30524438;30573663;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34561969;35051231;35318648;36010968;36215666;36241641;38665916;39242716;39302247", "class_list": "", "function": "CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008]., [RefSeq]; CIAPIN1 might be a DNA or RNA methyltransferase., [RefSeq, PubMed]; CIAPIN1 was localized in both the cytoplasm and the nucleus and was accumulated in the nucleolus. Bioinformatic prediction disclosed a putative nuclear localization signal and a putative nuclear export signal within human CIAPIN1., [RefSeq, PubMed]; Component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery required for the maturation of extramitochondrial Fe-S proteins. Part of an electron transfer chain functioning in an early step of cytosolic Fe-S biogenesis, facilitating the de novo assembly of a [4Fe-4S] cluster on the scaffold complex NUBP1-NUBP2. Electrons are transferred to CIAPIN1 from NADPH via the FAD- and FMN-containing protein NDOR1 (PubMed:23596212). NDOR1-CIAPIN1 are also required for the assembly of the diferric tyrosyl radical cofactor of ribonucleotide reductase (RNR), probably by providing electrons for reduction during radical cofactor maturation in the catalytic small subunit (By similarity). Has anti-apoptotic effects in the cell. Involved in negative control of cell death upon cytokine withdrawal. Promotes development of hematopoietic cells (By similarity)., [UniProtKB, HAMAP, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Downregulation of CIAPIN1 regulates the proliferation, migration and glycolysis of breast cancer cells via inhibition of STAT3 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; It is concluded that CIAPIN1 confers multidrug resistance in gastric cancer cells, likely by upregulating MDR-1 and MRP-1, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K8B6;O75206;O75207;Q9H0W1;Q9P1L7", "ec_number_list": "", "go_molecular_function": "GO:0005506 iron ion binding;GO:0009055 electron transfer activity;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0051537 2 iron, 2 sulfur cluster binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0034599 cellular response to oxidative stress;GO:0030097 hemopoiesis", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q6FI81-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P4Q7-1", "uniprot_id": "CNNM4_HUMAN", "mass": 86607.0, "length": 775, "protein_name": "Metal transporter CNNM4", "gene_name": "CNNM4", "organism": "Human", "refseq_name": "metal transporter CNNM4 precursor", "refseq_ac": "NP_064569", "gene_names_uniprotkb": "CNNM4; ACDP4; KIAA1592", "gene_names_refseq": "ACDP4; CNNM4; SLC70A4", "protein_names_uniprotkb": "Metal transporter CNNM4; Ancient conserved domain-containing protein 4; Cyclin-M4", "protein_names_refseq": "ancient conserved domain protein 4; ancient conserved domain-containing protein 4; cyclin-M4; metal transporter CNNM4 precursor; metal transporter CNNM4", "tax_id": 9606, "disease": "Jalili syndrome (Disease Ontology:DOID:0111404)", "pathway": " (hsa:26504)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;12657465;15840172;16959974;19200525;19200527;20068231;22399287;23186163;24190977;24714562;25418920;25576301;25892735;26811146;26929215;27920218;28218747;28228285;28467828;28832583;28904123;29242379;29437277;29557506;29632046;29632711;29741879;29769354;29786170;29789417;30315122;31222486;31347285;31844290;32022389;32157095;32265295;32350084;32357974;32983136;33141586;33298915;33537174;33592498;33912179;33936100;33968037;34185709;34357683;34561969;34928937;35251023;35580925;36010968;36215666;36354001;37074911;37938771;38149326", "class_list": "", "function": "CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells. Publication Status: Online-Only, [RefSeq, PubMed]; Dimerization of the CNNM extracellular domain., [RefSeq, PubMed]; Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort., [RefSeq, PubMed]; Novel CNNM4 variant and clinical features of Jalili syndrome., [RefSeq, PubMed]; Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function., [UniProtKB, PubMed, PubMed]; The novel identified variant in CNNM4 is the first report from the Pakistani population. Sequence analysis of CNNM4 revealed a novel missense variant (c.1220G>T, p.Arg407Leu) in exon-1 encoding cystathionine-beta-synthase (CBS) domain., [RefSeq, PubMed]; This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 13, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1U0;C7SQM3;C7SQM4;C7SQM5;Q53RE5;Q9H9G3;Q9HCI0;Q9NRN1", "ec_number_list": "", "go_molecular_function": "GO:0015081 sodium ion transmembrane transporter activity;GO:0015095 magnesium ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0015693 magnesium ion transport;GO:0007601 visual perception;GO:0031214 biomineral tissue development;GO:0010960 magnesium ion homeostasis;GO:0030003 intracellular monoatomic cation homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q6P4Q7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PB30-1", "uniprot_id": "CSAG1_HUMAN", "mass": 8697.0, "length": 78, "protein_name": "Chondrosarcoma-associated gene 1 protein", "gene_name": "CSAG1", "organism": "Human", "refseq_name": "chondrosarcoma-associated gene 1 protein", "refseq_ac": "NP_001096046", "gene_names_uniprotkb": "CSAG1; CSAGE", "gene_names_refseq": "CSAG1; CSAGE; CT24.1", "protein_names_uniprotkb": "Chondrosarcoma-associated gene 1 protein; CT24.1; Cancer/testis antigen 24.1; Cancer/testis antigen CSAGE", "protein_names_refseq": "cancer/testis antigen 24.1; cancer/testis antigen CSAGE; cancer/testis antigen family 24, member 1; chondrosarcoma-associated gene 1 protein; putative chondrosarcoma-associated gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:158511)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12039054;31844290;32157095;32295846;32488085;34561969", "class_list": "", "function": "CSAG1 maintains the integrity of the mitotic centrosome in cells with defective p53. Publication Status: Online-Only, [RefSeq, PubMed]; May play an important role in maintaining centrosome integrity during mitosis., [UniProtKB, PubMed]; This gene encodes a member of a family of tumor antigens. The protein is expressed in chondrosarcomas, but may also be expressed in normal tissues such as testis. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0A024RC18;A6NE22", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome", "go_biological_process": "GO:0007098 centrosome cycle", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6PB30-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PH81-1", "uniprot_id": "CP087_HUMAN", "mass": 17799.0, "length": 154, "protein_name": "UPF0547 protein C16orf87", "gene_name": "C16orf87", "organism": "Human", "refseq_name": "UPF0547 protein C16orf87 isoform 1", "refseq_ac": "NP_001001436", "gene_names_uniprotkb": "C16orf87", "gene_names_refseq": "C16orf87", "protein_names_uniprotkb": "UPF0547 protein C16orf87", "protein_names_refseq": "UPF0547 protein C16orf87 isoform 1; UPF0547 protein C16orf87", "tax_id": 9606, "disease": "", "pathway": " (hsa:388272)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;19651622;21406692;23481700;25576301;27920218;28904123;29632046;30315122;30524438;30779550;31154438;31530632;31844290;32157095;32502341;32938616;32983136;33968037;33981976;34171305;34561969;35561310;36581221;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q63HN9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6PH81-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PJW8-1", "uniprot_id": "CNST_HUMAN", "mass": 79597.0, "length": 725, "protein_name": "Consortin", "gene_name": "CNST", "organism": "Human", "refseq_name": "consortin isoform 2", "refseq_ac": "NP_001132931", "gene_names_uniprotkb": "CNST; C1orf71", "gene_names_refseq": "C1orf71; CNST; PPP1R64", "protein_names_uniprotkb": "Consortin", "protein_names_refseq": "consortin isoform 2; protein phosphatase 1, regulatory subunit 64", "tax_id": 9606, "disease": "", "pathway": " (hsa:163882)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;19864490;25576301;25645385;26992070;27600516;28832583;28904123;29493099;29557506;30315122;30833945;31530632;31844290;32157095;32161166;32350084;32488085;32502341;32693639;32938616;33912179;34087483;34171305;34357683;35051231;35561310;35580925", "class_list": "", "function": "Circular RNA_CNST Promotes the Tumorigenesis of Osteosarcoma Cells by Sponging miR-421., [RefSeq, PubMed]; Consortin is a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins., [RefSeq, PubMed]; Required for targeting of connexins to the plasma membrane., [UniProtKB, PubMed]; Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q5VSY9;Q5VTM7;Q8IYA9;Q8N3L5;Q8NB09;Q8TEI2;Q96MR5", "ec_number_list": "", "go_molecular_function": "GO:0071253 connexin binding;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030133 transport vesicle;GO:0005802 trans-Golgi network;GO:0032991 protein-containing complex", "go_biological_process": "GO:0042998 positive regulation of Golgi to plasma membrane protein transport", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q6PJW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZRI6-1", "uniprot_id": "CO039_HUMAN", "mass": 110673.0, "length": 1047, "protein_name": "Uncharacterized protein C15orf39", "gene_name": "C15orf39", "organism": "Human", "refseq_name": "uncharacterized protein C15orf39 isoform X1", "refseq_ac": "XP_047288820", "gene_names_uniprotkb": "C15orf39; FP6578", "gene_names_refseq": "C15orf39", "protein_names_uniprotkb": "Uncharacterized protein C15orf39", "protein_names_refseq": "uncharacterized protein C15orf39 isoform X1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56905)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "11230166;11237011;15498874;18669648;19608861;19651622;20068231;22544926;23186163;23481700;24366607;24714562;24715725;25576301;25880248;26154972;26375851;26992070;27846572;27862975;27920218;28228285;28832583;28834231;28904123;29237092;29242379;29393594;29508533;29557506;29786170;30059200;30315122;30379171;30524438;30620550;30779550;30833945;31092671;31217245;31492838;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32938750;32983136;33141586;33298915;33392160;33537174;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34846842;34932366;35051231;35132862;35254053;35513511;35580925;36010968;36284347;37541260;37938771;38892217;39531497;39534244", "class_list": "", "function": "Negatively regulates microglial inflammatory responses (PubMed:38892217). Inhibits NF-kappa-B signaling by interacting with PRMT2, thereby reducing the production of pro-inflammatory cytokines, maintaining a steady-state in microglia and limiting excessive inflammation (PubMed:38892217)., [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": 2, "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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B3KWI3;C9J888;Q71JB1;Q7L3S0;Q8N3F2;Q96FB6;Q9NTU5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006954 inflammatory response;GO:0050728 negative regulation of inflammatory response;GO:0043124 negative regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q6ZRI6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZTR6-1", "uniprot_id": "ZNFDT_HUMAN", "mass": 17236.0, "length": 163, "protein_name": "Putative uncharacterized protein ZNF516-DT", "gene_name": "ZNF516-DT", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ZNF516-DT; C18orf65", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ZNF516-DT; ZNF516 divergent transcript", "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": "Q6ZTR6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IV77-1", "uniprot_id": "CNGA4_HUMAN", "mass": 65999.0, "length": 575, "protein_name": "Cyclic nucleotide-gated channel alpha-4", "gene_name": "CNGA4", "organism": "Human", "refseq_name": "cyclic nucleotide-gated channel alpha-4", "refseq_ac": "NP_001032406", "gene_names_uniprotkb": "CNGA4", "gene_names_refseq": "CNCA2; CNG-4; CNG4; CNG5; CNGA4; CNGB2; OCNC2; OCNCBETA; OCNCb", "protein_names_uniprotkb": "Cyclic nucleotide-gated channel alpha-4; CNG channel alpha-4; CNGa4; OCNC2; Olfactory cyclic nucleotide-gated channel subunit 2", "protein_names_refseq": "CNG channel alpha-4; cyclic nucleotide gated channel alpha 4; cyclic nucleotide gated channel beta 2; cyclic nucleotide-gated cation channel alpha-4; cyclic nucleotide-gated channel alpha-4; olfactory cyclic nucleotide-gated channel subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:1262); (R-HSA-381753); (R-HSA-5620916)", "pathway_count": 3, "publication_count": 56, "publication_id_list": "10460249;11764791;12221131;15158452;15195096;15598656;15728366;16038802;16136078;16155582;16431365;16537653;16782012;17007872;17030804;17032767;17574030;17601748;17628206;17646400;17873857;17956946;17973576;18685082;19017632;19153612;19297529;19454479;19474308;19581598;20083215;20308558;21273506;21550243;21565611;21775626;22389062;22420621;22433857;22983554;23351793;23567335;23945166;24296415;24316890;25576301;25784876;25977809;26373539;27916747;27916748;28656349;29235485;29557506;31040214;9819391", "class_list": "", "function": "CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM, Mar 2008]., [RefSeq]; Pore-forming subunit of the olfactory cyclic nucleotide-gated channel. Operates in the cilia of olfactory sensory neurons where chemical stimulation of the odorant is converted to an electrical signal. Mediates odorant-induced cAMP-dependent Ca(2+) influx triggering neuron depolarization. The rise of intracellular Ca(2+) levels potentiates the olfactory response by activating Ca(2+)-dependent Cl(-) channels, but it also serves as a negative feedback signal to desensitize the channel for rapid adaptation to odorants. Conducts cAMP- and cGMP-gated ion currents, with permeability for monovalent and divalent cations., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005223 intracellularly cGMP-activated cation channel activity;GO:0005222 intracellularly cAMP-activated cation channel activity;GO:0030552 cAMP binding;GO:0030553 cGMP binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0060170 ciliary membrane;GO:0017071 intracellular cyclic nucleotide activated cation channel complex;GO:0030660 Golgi-associated vesicle membrane;GO:0098804 non-motile cilium membrane", "go_biological_process": "GO:0006816 calcium ion transport;GO:0098655 monoatomic cation transmembrane transport;GO:0006813 potassium ion transport;GO:0007608 sensory perception of smell;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q8IV77-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYJ1-1", "uniprot_id": "CPNE9_HUMAN", "mass": 61864.0, "length": 553, "protein_name": "Copine-9", "gene_name": "CPNE9", "organism": "Human", "refseq_name": "copine-9 isoform 2", "refseq_ac": "NP_001295317", "gene_names_uniprotkb": "CPNE9", "gene_names_refseq": "CPNE9", "protein_names_uniprotkb": "Copine-9; Copine IX", "protein_names_refseq": "copine IX; copine family member IX; copine-9 isoform 2; copine-9; copine-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:151835)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;16335952;17697703;19913121;20068231;20628086;23999003;24715725;25418920;25645385;25892735;28228285;28514659;28904123;29237092;29508533;29557506;29632711;29769354;31844290;32502341;32938616;33780365;33912179;33968037;34932366;35051231;35580925;36241641", "class_list": "", "function": "High expression of CPNE5 and CPNE9 predicts positive prognosis in multiple myeloma., [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]; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1L430;A6NDX6;A8MSP8", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0030154 cell differentiation;GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8IYJ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N9M1-1", "uniprot_id": "CS047_HUMAN", "mass": 44746.0, "length": 422, "protein_name": "Uncharacterized protein C19orf47", "gene_name": "C19orf47", "organism": "Human", "refseq_name": "uncharacterized protein C19orf47 isoform 1 precursor", "refseq_ac": "NP_001243369", "gene_names_uniprotkb": "C19orf47", "gene_names_refseq": "C19orf47", "protein_names_uniprotkb": "Uncharacterized protein C19orf47", "protein_names_refseq": "uncharacterized protein C19orf47 isoform 1 precursor; uncharacterized protein C19orf47", "tax_id": 9606, "disease": "", "pathway": " (hsa:126526)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;18669648;19690332;23186163;23481700;24715725;27920218;28832583;29242379;30410026;31217245;31530632;31844290;31848261;32157095;32502341;33298915;33968037;34093574;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IZ33;Q8N0V9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8N9M1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NAA6-1", "uniprot_id": "CO053_HUMAN", "mass": 19737.0, "length": 179, "protein_name": "Putative uncharacterized protein encoded by LINC02694", "gene_name": "LINC02694", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC02694; C15orf53", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC02694", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "37217939", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8NAA6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVH0-1", "uniprot_id": "CPLX3_HUMAN", "mass": 17557.0, "length": 158, "protein_name": "Complexin-3", "gene_name": "CPLX3", "organism": "Human", "refseq_name": "complexin-3", "refseq_ac": "NP_001025176", "gene_names_uniprotkb": "CPLX3; Nbla11589", "gene_names_refseq": "CPLX3; CPX-III; CPXIII; Nbla11589", "protein_names_uniprotkb": "Complexin-3; CPX III; Complexin III", "protein_names_refseq": "complexin III; complexin-3; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:594855)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12880961;15911881;21785413;28510447", "class_list": "", "function": "CPX acts sequentially on assembling SNAREpins, first facilitating zippering by nearly doubling the distance at which v- and t-SNAREs can engage and then clamping them into a half-zippered fusion-incompetent state. Publication Status: Online-Only, [RefSeq, PubMed]; Complexin that regulates SNARE protein complex-mediated synaptic vesicle fusion (By similarity). Required for the maintenance of synaptic ultrastructure in the adult retina (By similarity). Positively regulates synaptic transmission through synaptic vesicle availability and exocytosis of neurotransmitters at photoreceptor ribbon synapses in the retina (By similarity). Suppresses tonic photoreceptor activity and baseline 'noise' by suppression of Ca(2+) vesicle tonic release and the facilitation of evoked synchronous and asynchronous Ca(2+) vesicle release (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DW66;Q8TEM6;Q9H818", "ec_number_list": "", "go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0019905 syntaxin binding;GO:0000149 SNARE binding", "go_cellular_component": "GO:0048787 presynaptic active zone membrane;GO:0005829 cytosol;GO:0043195 terminal bouton;GO:0030672 synaptic vesicle membrane;GO:0031201 SNARE complex", "go_biological_process": "GO:0007601 visual perception;GO:0050804 modulation of chemical synaptic transmission;GO:0030073 insulin secretion;GO:0031630 regulation of synaptic vesicle fusion to presynaptic active zone membrane;GO:0016079 synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8WVH0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92828-1", "uniprot_id": "COR2A_HUMAN", "mass": 59763.0, "length": 525, "protein_name": "Coronin-2A", "gene_name": "CORO2A", "organism": "Human", "refseq_name": "coronin-2A", "refseq_ac": "NP_003380", "gene_names_uniprotkb": "CORO2A; IR10; WDR2", "gene_names_refseq": "CLIPINB; CORO2A; IR10; WDR2", "protein_names_uniprotkb": "Coronin-2A; IR10; WD repeat-containing protein 2", "protein_names_refseq": "WD protein IR10; WD repeat-containing protein 2; WD-repeat protein 2; coronin, actin binding protein, 2A; coronin-2A; coronin-like protein B", "tax_id": 9606, "disease": "hereditary lymphedema (Disease Ontology:DOID:0050580); brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:7464)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "12628926;18160138;19654210;24714562;25576301;26373535;26992070;27129179;27920218;28218747;28411811;28832583;28904123;29242379;29393594;29493099;29786170;31844290;32488085;33298915;33968037;34884487;36010968;37938771;8985118", "class_list": "", "function": "Coronin 2A and cofilin regulate a subset of focal-adhesion-turnover events., [RefSeq, PubMed]; Increased expression of coronin 2A is associated with the malignant phenotype of human colon carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular Pathogenesis of the Coronin Family: CORO2A Facilitates Migration and Invasion Abilities in Oral Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The regulation of CORO2A through the deubiquitinating activity of USP19 affected the transcriptional repression activity of the retinoic acid receptor (RAR), suggesting that USP19 may be involved in the regulation of RAR-mediated adipogenesis., [RefSeq, PubMed]; This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]; This protein is one of 10-12 associated proteins in the purified N-CoR 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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TBR5;Q92829;Q9BWS5", "ec_number_list": "", "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0007015 actin filament organization;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q92828-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96A83-1", "uniprot_id": "COQA1_HUMAN", "mass": 45381.0, "length": 441, "protein_name": "Collagen alpha-1(XXVI) chain", "gene_name": "COL26A1", "organism": "Human", "refseq_name": "collagen alpha-1(XXVI) chain isoform 1 precursor", "refseq_ac": "NP_001265492", "gene_names_uniprotkb": "COL26A1; EMID2; EMU2", "gene_names_refseq": "COL26A1; EMI6; EMID2; EMU2; SH2B", "protein_names_uniprotkb": "Collagen alpha-1(XXVI) chain; Alpha-1 type XXVI collagen; EMI domain-containing protein 2; Emilin and multimerin domain-containing protein 2; Emu2", "protein_names_refseq": "EMI domain containing 2; collagen alpha-1(XXVI) chain isoform 1 precursor; collagen alpha-1(XXVI) chain; collagen, type XXVI, alpha 1; emilin and multimerin domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:136227); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-8948216)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10049780;10479448;10551873;10809722;10934207;11013208;11119712;11577169;11927537;12221002;12473679;12475640;12579531;12646579;1323838;14500733;15005656;15044469;15257288;1577494;15950618;16591531;16825197;1704217;17088321;171650;18487197;18622425;19075007;19693541;2005102;20470363;21086123;21593211;2169335;21878990;21935455;21967573;22217332;22241472;22382088;2253219;23584533;2537292;2543975;2548603;2551898;2834383;2845110;29557506;3038863;30459171;3173483;31844290;31848261;3223920;33392160;35051231;37074911;38195652;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7890717;8463259;8576151;8920930;8999957;9054364;9092507;9545296;9560306;9582318;9651395", "class_list": "", "function": "13 EMID2 variants were significantly associated with the presence of nasal polyps in the overall asthma group. Publication Status: Online-Only, [RefSeq, PubMed]; EMID2 is a novel biotherapeutic for aggressive cancers identified by in vivo screening. Publication Status: Online-Only, [RefSeq, PubMed]; EMID2 may be a susceptible genetic factor for aspirin hypersensitivity among asthmatics in Korean population. GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]., [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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "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": 9, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q32M90", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q96A83-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96F85-1", "uniprot_id": "CNRP1_HUMAN", "mass": 18648.0, "length": 164, "protein_name": "CB1 cannabinoid receptor-interacting protein 1", "gene_name": "CNRIP1", "organism": "Human", "refseq_name": "CB1 cannabinoid receptor-interacting protein 1 isoform CRIP1b", "refseq_ac": "NP_001104571", "gene_names_uniprotkb": "CNRIP1; C2orf32", "gene_names_refseq": "C2orf32; CNRIP1; CRIP-1; CRIP1", "protein_names_uniprotkb": "CB1 cannabinoid receptor-interacting protein 1; CRIP-1", "protein_names_refseq": "CB1 cannabinoid receptor-interacting protein 1 isoform CRIP1b; CB1 cannabinoid receptor-interacting protein 1; cannabinoid receptor CB1-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25927)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;17895407;20068231;27895162;28918320;32157095;32756411;32955740;33261012;33592498;34638827;38159053", "class_list": "", "function": "CRIP1a can compete with beta-arrestins for interaction with C-terminal CB1R domains that could affect agonist-driven, beta-arrestin-mediated internalization of the CB1R., [RefSeq, PubMed]; Cannabinoid Receptor Interacting Protein 1a (CRIP1a) in Health and Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior via Glutamate Decarboxylase 67 Transcription. Publication Status: Online-Only, [RefSeq, PubMed]; DNA Methylation of Cannabinoid Receptor Interacting Protein 1 Promotes Pathogenesis of Intrahepatic Cholangiocarcinoma Through Suppressing Parkin-Dependent Pyruvate Kinase M2 Ubiquitination., [RefSeq, PubMed]; Deciphering the Molecular Association of Human CRIP1a with an Agonist-Bound Cannabinoid Receptor 1., [RefSeq, PubMed]; Does not suppress cannabinoid receptor CNR1-mediated tonic inhibition of voltage-gated calcium channels., [UniProtKB, PubMed]; Suppresses cannabinoid receptor CNR1-mediated tonic inhibition of voltage-gated calcium channels., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Tat-Cannabinoid Receptor Interacting Protein Reduces Ischemia-Induced Neuronal Damage and Its Possible Relationship with 14-3-3eta. Publication Status: Online-Only, [RefSeq, PubMed]; The Arg82 and Cys126 of CRIP1b are involved in the majority of hydrogen bond interactions with the CB1 receptor and are possible key residues required for interactions between the CB1 receptor and CRIP1b, [RefSeq, PubMed]; This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B2R4D0;Q49AN4;Q9UFZ0", "ec_number_list": "", "go_molecular_function": "GO:0031718 type 1 cannabinoid receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0098793 presynapse", "go_biological_process": "GO:2000272 negative regulation of signaling receptor activity;GO:0010469 regulation of signaling receptor activity;GO:0150036 regulation of trans-synaptic signaling by endocannabinoid, modulating synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96F85-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96LL3-1", "uniprot_id": "FIMP_HUMAN", "mass": 14383.0, "length": 132, "protein_name": "Fertilization-influencing membrane protein", "gene_name": "C16orf92; FIMP", "organism": "Human", "refseq_name": "fertilization-influencing membrane protein isoform 1 precursor", "refseq_ac": "NP_001103129", "gene_names_uniprotkb": "C16orf92; FIMP; C16orf92", "gene_names_refseq": "C16orf92; FIMP1; FIMP", "protein_names_uniprotkb": "Fertilization-influencing membrane protein", "protein_names_refseq": "fertilization-influencing membrane protein isoform 1 precursor; fertilization-influencing membrane protein; uncharacterized protein C16orf92", "tax_id": 9606, "disease": "", "pathway": " (hsa:146378)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;24715725;32295885", "class_list": "", "function": "May play a role in sperm-oocyte fusion during fertilization., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q494R8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0009566 fertilization", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96LL3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MC5-1", "uniprot_id": "MERB1_HUMAN", "mass": 23732.0, "length": 204, "protein_name": "bMERB domain-containing protein 1", "gene_name": "BMERB1", "organism": "Human", "refseq_name": "bMERB domain-containing protein 1 isoform 2", "refseq_ac": "NP_001135941", "gene_names_uniprotkb": "BMERB1; C16orf45", "gene_names_refseq": "BMERB1; C16orf45; MINP", "protein_names_uniprotkb": "bMERB domain-containing protein 1", "protein_names_refseq": "bMERB domain-containing protein 1 isoform 2; bMERB domain-containing protein 1; migration inhibitory protein; uncharacterized protein C16orf45", "tax_id": 9606, "disease": "", "pathway": " (hsa:89927)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;25576301;27600516;29557506;33968037;35051231;36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00223;O75769;Q8IZ36;Q96H25", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0007026 negative regulation of microtubule depolymerization", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96MC5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BUF7-1", "uniprot_id": "CRUM3_HUMAN", "mass": 12854.0, "length": 120, "protein_name": "Protein crumbs homolog 3", "gene_name": "CRB3", "organism": "Human", "refseq_name": "protein crumbs homolog 3 isoform a precursor", "refseq_ac": "NP_631900", "gene_names_uniprotkb": "CRB3; PRO1158", "gene_names_refseq": "CRB3", "protein_names_uniprotkb": "Protein crumbs homolog 3", "protein_names_refseq": "crumbs 3, cell polarity complex component; crumbs family member 3; protein crumbs homolog 3 isoform a precursor; protein crumbs homolog 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:92359); (R-HSA-420029); (R-HSA-9705677)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "11447115;11964389;12527193;12771187;12953056;12975309;14718572;15976445;16129888;17920587;20861307;23439680;29557506;31391273;31500807;32350084;32822073;32891874;33864728;33903236;34106957;34117354;38049890", "class_list": "", "function": "Aberrant epithelial polarity cues drive the development of precancerous airway lesions., [RefSeq, PubMed]; CRB3, through its cytoplasmic domain and its interactors, plays a role in apical membrane morphogenesis and tight junction regulation., [RefSeq, PubMed]; Fructose-bisphosphatase1 (FBP1) alleviates experimental osteoarthritis by regulating Protein crumbs homolog 3 (CRB3). Erratum:[Arthritis Res Ther. 2023 Dec 28;25(1):250. doi: 10.1186/s13075-023-03247-9. PMID: 38155346] Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the establishment of cell polarity in mammalian epithelial cells (PubMed:12771187, PubMed:14718572, PubMed:23439680). Regulates the morphogenesis of tight junctions (PubMed:12771187, PubMed:14718572). 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, PubMed, UniProtKB, PubMed]; Knockout (KO) of apical polarity determinant Crumbs 3 (Crb3) enhances Adeno-associated viruses (AAV) transduction, while overexpression exerts the opposite effect. Crb3 restricts AAV transduction in a serotype- and cell type-specific manner. Increased availability of galactosylated glycans on the surfaces of Crb3 KO cells, but not the universal AAV receptor, leads to increased capsid attachment and enhanced transduction. Publication Status: Online-Only, [RefSeq, PubMed]; The Crb3 may promote colon cancer cell migration by regulating the expression of GSLs on the cell surface., [RefSeq, PubMed]; The Crumbs3-Pals1 complex has a role in development of polarity in mammalian epithelial cells, [RefSeq, PubMed]; The crumbs3 protein plays an important role in epithelial tight junction formation, and also provide the first known functional role for the mammalian Crumbs FERM binding domain., [RefSeq, PubMed]; This gene encodes a member of the Crumbs family of proteins. This gene is widely expressed in epithelial tissues where the encoded protein isoforms play various roles such as the control of cytokinesis and ciliogenesis or the formation of tight junctions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": "A8KA91;D6W643;Q8N0V8;Q8WVA0", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0030054 cell junction;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity;GO:1901890 positive regulation of cell junction assembly;GO:0120193 tight junction organization", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9BUF7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BV73-1", "uniprot_id": "CP250_HUMAN", "mass": 281137.0, "length": 2442, "protein_name": "Centrosome-associated protein CEP250", "gene_name": "CEP250", "organism": "Human", "refseq_name": "centrosome-associated protein CEP250 isoform 2", "refseq_ac": "NP_001305148", "gene_names_uniprotkb": "CEP250; CEP2; CNAP1", "gene_names_refseq": "C-NAP1; CEP250; CEP2; CNAP1; CRDHL2", "protein_names_uniprotkb": "Centrosome-associated protein CEP250; 250 kDa centrosomal protein; C-Nap1; Centrosomal Nek2-associated protein 1; Centrosomal protein 2; Cep250", "protein_names_refseq": "250 kDa centrosomal protein; centrosomal Nek2-associated protein 1; centrosome-associated protein CEP250 isoform 2; centrosome-associated protein CEP250", "tax_id": 9606, "disease": "retinitis pigmentosa (Disease Ontology:DOID:10584); cone-rod dystrophy and hearing loss 2 (MONDO:MONDO:0020780)", "pathway": " (hsa:11190); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 152, "publication_id_list": "10880350;11076968;11237011;11956313;12140259;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18452278;18477460;18521620;18566290;18615013;18694559;18801063;18851962;19004860;19081074;19690332;19940019;20068231;20230748;20308558;20399632;20558667;20708153;21076410;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24554434;24695856;24714562;24715725;24780881;24982133;25047611;25313408;25418920;25532896;25576301;25645385;25660448;26337392;26811146;26992070;27893789;28005958;28218747;28467828;28832583;28834231;28855257;28904123;29242379;29493099;29557506;29632046;29718797;29786170;30315122;30379171;30404835;30459346;30484775;30524438;30998843;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33109182;33141586;33298915;33392160;33402344;33537174;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34223797;34405274;34509645;35051231;35251023;35318648;35580925;35729462;36010968;36241641;36282799;37938771;39531497;7769006;7790358;8838651;9506584;9647649", "class_list": "", "function": "Circ_0060077 Knockdown Alleviates High-Glucose-Induced Cell Apoptosis, Oxidative Stress, Inflammation and Fibrosis in HK-2 Cells via miR-145-5p/VASN Pathway. Erratum:[Inflammation. 2023 Apr;46(2):780. doi: 10.1007/s10753-022-01740-y. PMID: 36112240], [RefSeq, PubMed]; Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome., [RefSeq, PubMed]; Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an important role in centrosome cohesion during interphase (PubMed:30404835, PubMed:36282799). Recruits CCDC102B to the proximal ends of centrioles (PubMed:30404835). Maintains centrosome cohesion by forming intercentriolar linkages (PubMed:36282799). Accumulates at the proximal end of each centriole, forming supramolecular assemblies with viscous material properties that promote organelle cohesion (PubMed:36282799). May be involved in ciliogenesis (PubMed:28005958)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "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": "E1P5Q3;O14812;O60588;Q9H450", "ec_number_list": "", "go_molecular_function": "GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0030997 regulation of centriole-centriole cohesion;GO:0000278 mitotic cell cycle;GO:0060271 cilium assembly;GO:0008104 intracellular protein localization;GO:1904781 positive regulation of protein localization to centrosome", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q9BV73-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H8E8-1", "uniprot_id": "CSR2B_HUMAN", "mass": 88844.0, "length": 782, "protein_name": "Cysteine-rich protein 2-binding protein", "gene_name": "KAT14", "organism": "Human", "refseq_name": "cysteine-rich protein 2-binding protein isoform 1", "refseq_ac": "NP_001371121", "gene_names_uniprotkb": "KAT14; CSRP2BP", "gene_names_refseq": "ATAC2; CRP2BP; CSRP2BP; KAT14; PRO1194; dJ717M23.1", "protein_names_uniprotkb": "Cysteine-rich protein 2-binding protein; ADA2A-containing complex subunit 2; ATAC2; CRP2-binding partner; CRP2BP; CSRP2-binding protein; Lysine acetyltransferase 14", "protein_names_refseq": "ADA2A-containing complex subunit 2; ATAC component 2 homolog; CRP2 binding partner; CRP2 binding protein; CSRP2-binding protein; cysteine-rich protein 2-binding protein isoform 1; cysteine-rich protein 2-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57325); (R-HSA-3214847); (R-HSA-9772755)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10786633;10821277;10924333;11237011;12393701;12482972;12670868;14636557;14992727;15199122;15313887;16227571;16239140;16387653;16829959;16878130;16892064;17355966;17500065;17612494;17671196;17925232;17998332;18381289;18452278;18598942;18623064;18669648;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19187765;19556245;19608861;20018852;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;22266653;22327296;22652693;22665483;22869377;23186163;23508102;23995757;24244196;24368734;24680668;25561738;25576301;25593305;25645385;25892735;26324722;26886794;26992070;27563068;27698142;27760318;27846572;27920218;28182322;28218747;28228285;28398509;28411811;28832583;29138278;29242379;29437277;29769354;29786170;29897600;29937342;30315122;30410026;30429286;30779550;30890647;31154438;31222486;31400120;31485071;31530632;31544921;31844290;32157095;32357974;32488085;32502341;32938616;33537174;33592498;33657400;33717175;33968037;34012049;34933446;35033534;35051231;35190547;35439434;35561310;35580925;36010968;37938771;38867256;9427644;9558366;9880483", "class_list": "", "function": "Actin binds directly to the hATAC subunit KAT14, and modulates its histone acetyl transferase activity in vitro and in cells. Publication Status: Online-Only, [RefSeq, PubMed]; CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]., [RefSeq]; Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. May function as a scaffold for the ATAC complex to promote ATAC complex stability. Has also weak histone acetyltransferase activity toward histone H4. Required for the normal progression through G1 and G2/M phases of the cell cycle., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Lysine acetyltransferase 14 mediates TGF-beta-induced fibrosis in ovarian endometrioma via co-operation with serum response factor. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2A2I5;Q96GW6;Q96IH3;Q9HBF0;Q9UIY5", "ec_number_list": "", "go_molecular_function": "GO:0030274 LIM domain binding;GO:0004402 histone acetyltransferase activity;GO:0016747 acyltransferase activity, transferring groups other than amino-acyl groups", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0072686 mitotic spindle;GO:0140672 ATAC complex", "go_biological_process": "GO:0090043 regulation of tubulin deacetylation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q9H8E8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAK2-1", "uniprot_id": "COE2_HUMAN", "mass": 62650.0, "length": 575, "protein_name": "Transcription factor COE2", "gene_name": "EBF2", "organism": "Human", "refseq_name": "transcription factor COE2", "refseq_ac": "NP_073150", "gene_names_uniprotkb": "EBF2; COE2", "gene_names_refseq": "COE2; EBF-2; EBF2; O/E-3; OE-3", "protein_names_uniprotkb": "Transcription factor COE2; EBF-2; Early B-cell factor 2", "protein_names_refseq": "Collier, Olf and EBF 2; Collier, Olf and EBF transcription factor 2; OLF-1/EBF-LIKE 3; early B cell factor 2; metencephalon-mesencephalnon-olfactory transcription factor 1; transcription factor COE2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64641); (R-HSA-9844594)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;19671856;25576301;27600516;27923061;29557506;29749135;30529043;30993113;35051231;37938771;38015024", "class_list": "", "function": "Data indicated that miR-204-5p is an anti-oncogenic miRNA in osteosarcoma which functions through inhibiting oncogenic transcription factor EBF2. These results provided new therapeutic targets for metastatic osteosarcoma and insights into molecular regulation of EBF2., [RefSeq, PubMed]; EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN., [RefSeq, PubMed]; EBF2 as a mediator of osteoprotegerin inhibition to tumor necrosis factor-related apoptosis-inducing ligand-induced apoptosis., [RefSeq, PubMed]; EBF2 gene variants can contribute to KD [ Kawasaki disease]in the Korean population., [RefSeq, PubMed]; Research indicated that downexpression of miR-182-3p in Osteosarcoma (OS) cells results in overexpression of EBF2 and promotes the progression of OS. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]., [RefSeq]; Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt-responsive LEF1/CTNNB1 pathway. Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 9696, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0PJM4;A6NMF7;F5H645;Q66VZ3;Q6DK36;Q6IS86;Q6ISA4", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9HAK2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRU3-1", "uniprot_id": "CNNM1_HUMAN", "mass": 104351.0, "length": 951, "protein_name": "Metal transporter CNNM1", "gene_name": "CNNM1", "organism": "Human", "refseq_name": "metal transporter CNNM1 isoform 1", "refseq_ac": "NP_065081", "gene_names_uniprotkb": "CNNM1; ACDP1", "gene_names_refseq": "ACDP1; CLP-1; CNNM1; SLC70A1", "protein_names_uniprotkb": "Metal transporter CNNM1; Ancient conserved domain-containing protein 1; Cyclin-M1", "protein_names_refseq": "ancient conserved domain-containing protein 1; cyclin-M1; metal transporter CNNM1 isoform 1; metal transporter CNNM1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26507)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12657465;12707951;16344560;24715725;26811146;28904123;29393594;29632046;30315122;32265295;32357974;32387766;32397799;32938616;33298915;33592498;34087483;34171305;34357683;35051231", "class_list": "", "function": "Metal transporter., [UniProtKB, UniProtKB]; Probable metal transporter., [UniProtKB]; SNHG7 Facilitates Hepatocellular Carcinoma Occurrence by Sequestering miR-9-5p to Upregulate CNNM1 Expression., [RefSeq, PubMed]; This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [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": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q4QQG7;Q4QQH8;Q4QQP9;Q9NT45", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0010960 magnesium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9NRU3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P232-1", "uniprot_id": "CNTN3_HUMAN", "mass": 112883.0, "length": 1028, "protein_name": "Contactin-3", "gene_name": "CNTN3", "organism": "Human", "refseq_name": "contactin-3 precursor", "refseq_ac": "NP_065923", "gene_names_uniprotkb": "CNTN3; KIAA1496; PANG", "gene_names_refseq": "BIG-1; CNTN3; PANG; PCS", "protein_names_uniprotkb": "Contactin-3; BIG-1; Brain-derived immunoglobulin superfamily protein 1; Plasmacytoma-associated neuronal glycoprotein", "protein_names_refseq": "brain-derived immunoglobulin superfamily protein 1; contactin 3 (plasmacytoma associated); contactin-3 precursor; plasmacytoma-associated neuronal glycoprotein", "tax_id": 9606, "disease": "renal hypomagnesemia 2 (Disease Ontology:DOID:0060885)", "pathway": " (hsa:5067); (R-HSA-163125)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "11013081;11072085;16335952;20133774;20360857;23090970;23481700;24190977;2443973;28832583;29242379;29391424;29557506;29632711;30779550;32157095;32502341;32566650;34211107;3422494;35030990;35051231;37074911", "class_list": "", "function": "BIG1 and BIG2 have roles in endomembrane organization Publication Status: Online-Only, [RefSeq, PubMed]; Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity (By similarity)., [UniProtKB]; Down-regulation of the brain-specific cell-adhesion molecule contactin-3 in tuberous sclerosis complex during the early postnatal period. 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]", "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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 12, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B9EK50;Q9H039", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0043005 neuron projection;GO:0098552 side of membrane", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9P232-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULV4-1", "uniprot_id": "COR1C_HUMAN", "mass": 53249.0, "length": 474, "protein_name": "Coronin-1C", "gene_name": "CORO1C", "organism": "Human", "refseq_name": "coronin-1C isoform a", "refseq_ac": "NP_001098707", "gene_names_uniprotkb": "CORO1C; CRN2; CRNN4", "gene_names_refseq": "CORO1C; HCRNN4", "protein_names_uniprotkb": "Coronin-1C; Coronin-3; hCRNN4", "protein_names_refseq": "coronin, actin binding protein, 1C; coronin-1C isoform a; coronin-3", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); COVID-19 (Disease Ontology:DOID:0080600); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); pyelonephritis (Disease Ontology:DOID:11400); osteoporosis (Disease Ontology:DOID:11476); prediabetes syndrome (Disease Ontology:DOID:11716); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); ischemia (Disease Ontology:DOID:326); middle cerebral artery infarction (Disease Ontology:DOID:3525); migraine (Disease Ontology:DOID:6364); stomach disease (Disease Ontology:DOID:76); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:23603)", "pathway_count": 1, "publication_count": 90, "publication_id_list": "10.1101/2023.09.13.557529;10828594;11237011;12377779;15592455;16408927;18083107;19608861;19651142;20068231;22355754;22364218;23301498;23481700;24366607;24715725;25074804;25418920;25576301;25645385;25880248;25925950;26154972;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28467828;28510447;28649982;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29786170;30220460;30315122;30410026;30429286;31020640;31217245;31844290;32157095;32350084;32357974;32387766;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33537174;33592498;33912179;33968037;33981976;34019948;34087483;34106209;34171305;34357683;34509645;34725712;35051231;35064359;35083852;35154160;35251023;35388975;35580925;35593474;36010968;36215666;36241641;36284347;37239355;37938771;38665916", "class_list": "", "function": "CORO1C, a novel PAK4 binding protein, recruits phospho-PAK4 at serine 99 to the leading edge and promotes the migration of gastric cancer cells., [RefSeq, PubMed]; CircRNA CORO1C Regulates miR-654-3p/USP7 Axis to Mediate Laryngeal Squamous Cell Carcinoma Progression., [RefSeq, PubMed]; Circ_0020123 plays an oncogenic role in non-small cell lung cancer depending on the regulation of miR-512-3p/CORO1C., [RefSeq, PubMed]; Coronin 1C, Regulated by Multiple microRNAs, Facilitates Cancer Cell Aggressiveness in Pancreatic Ductal Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in myogenic differentiation., [UniProtKB, PubMed]; Oligomerization, F-actin interaction and membrane association are mediated by carboxyl terminus, [RefSeq, PubMed]; Plays a role in directed cell migration by regulating the activation and subcellular location of RAC1 (PubMed:25074804, PubMed:25925950). Increases the presence of activated RAC1 at the leading edge of migrating cells (PubMed:25074804, PubMed:25925950). Required for normal organization of the cytoskeleton, including the actin cytoskeleton, microtubules and the vimentin intermediate filaments (By similarity). Plays a role in endoplasmic reticulum-associated endosome fission: localizes to endosome membrane tubules and promotes recruitment of TMCC1, leading to recruitment of the endoplasmic reticulum to endosome tubules for fission (PubMed:30220460). Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane (PubMed:30220460). Required for normal cell proliferation, cell migration, and normal formation of lamellipodia (By similarity). Required for normal distribution of mitochondria within cells (By similarity). Interacts with GDP-bound RAB44 in bone marrow macrophages to promote osteoclastogenesis (By similarity). Involved in the migration and chemotaxis of macrophages (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 12, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A7MAP0;A7MAP1;B3KU12;Q9NSK5", "ec_number_list": "", "go_molecular_function": "GO:0051015 actin filament binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0005938 cell cortex;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:1900027 regulation of ruffle assembly;GO:0010633 negative regulation of epithelial cell migration;GO:0010762 regulation of fibroblast migration;GO:1900024 regulation of substrate adhesion-dependent cell spreading;GO:0051893 regulation of focal adhesion assembly", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9ULV4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5Q5-1", "uniprot_id": "CORIN_HUMAN", "mass": 116486.0, "length": 1042, "protein_name": "Atrial natriuretic peptide-converting enzyme", "gene_name": "CORIN", "organism": "Human", "refseq_name": "atrial natriuretic peptide-converting enzyme isoform 2", "refseq_ac": "NP_001265514", "gene_names_uniprotkb": "CORIN; CRN; TMPRSS10", "gene_names_refseq": "ATC2; CMH30; CORIN; CRN; Lrp4; PEE5; TMPRSS10", "protein_names_uniprotkb": "Atrial natriuretic peptide-converting enzyme; 3.4.21.-; Corin; Heart-specific serine proteinase ATC2; Pro-ANP-converting enzyme; Transmembrane protease serine 10", "protein_names_refseq": "atrial natriuretic peptide-converting enzyme isoform 2; atrial natriuretic peptide-converting enzyme; heart-specific serine proteinase ATC2; pro-ANP-convertase; pro-ANP-converting enzyme; transmembrane protease serine 10", "tax_id": 9606, "disease": "familial hypertrophic cardiomyopathy (Disease Ontology:DOID:0080326); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); congestive heart failure (Disease Ontology:DOID:6000); preeclampsia/eclampsia 5 (MONDO:MONDO:0013817); cardiomyopathy, familial hypertrophic, 30, atrial (MONDO:MONDO:0958241)", "pathway": " (hsa:10699); (R-HSA-5578768)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10329693;10880574;11082206;11237011;11884416;12154094;14559895;15146390;1672777;17660514;17918732;19651622;19751717;19934029;20489134;21288900;2144260;21482747;21518754;21763278;22437503;25202235;25451932;26817948;26990595;28904123;29557506;31844290;32506827;33912179;34087483;35051231;35580925;37217939;37913506;38417305;38657259;38925326;38942727", "class_list": "", "function": "Association between CORIN promoter methylation and hypertensive disorders of pregnancy - A nested case-control study., [RefSeq, PubMed]; Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis., [RefSeq, PubMed, PubMed]; Has weaker endopeptidase activity compared to isoform 1., [UniProtKB]; Processing of pro-atrial natriuretic peptide by corin in cardiac myocytes., [RefSeq, PubMed]; Serine-type endopeptidase involved in atrial natriuretic peptide (NPPA) and brain natriuretic peptide (NPPB) processing (PubMed:10880574, PubMed:20489134, PubMed:21288900, PubMed:21763278). Converts through proteolytic cleavage the non-functional propeptides NPPA and NPPB into their active hormones, ANP and BNP(1-32) respectively, thereby regulating blood pressure in the heart and promoting natriuresis, diuresis and vasodilation (PubMed:10880574, PubMed:20489134, PubMed:21288900, PubMed:21763278). Proteolytic cleavage of pro-NPPA also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus (PubMed:22437503). Also acts as a regulator of sodium reabsorption in kidney (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Systematic transcriptome profiling of hPSC-derived osteoblasts unveils CORIN's mastery in governing osteogenesis through CEBPD modulation., [RefSeq, PubMed]; The endocrine basis of the cardio-renal axis: New perspectives regarding corin. Review article, [RefSeq, PubMed]; These data indicate that the GATA element and its binding to GATA-4 are essential for cardiac expression of the human and murine corin genes., [RefSeq, PubMed]; This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 15, "predicted_n_glycosites": 15, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 4, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 102, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "B0ZBE3;Q2TBD2;Q4W5E5;Q4W5G6;Q9UHY2", "ec_number_list": "3.4.21.-", "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0003050 regulation of systemic arterial blood pressure by atrial natriuretic peptide;GO:0016486 peptide hormone processing;GO:0008217 regulation of blood pressure;GO:0007565 female pregnancy;GO:0035813 regulation of renal sodium excretion", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9Y5Q5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6Z7-1", "uniprot_id": "COL10_HUMAN", "mass": 30705.0, "length": 277, "protein_name": "Collectin-10", "gene_name": "COLEC10", "organism": "Human", "refseq_name": "collectin-10 isoform 2", "refseq_ac": "NP_001311024", "gene_names_uniprotkb": "COLEC10; CLL1; PRO702", "gene_names_refseq": "3MC3; CL-10; CL-34; CLL1; COLEC10", "protein_names_uniprotkb": "Collectin-10; CL-34; CL-L1; Collectin liver protein 1; Collectin-34", "protein_names_refseq": "collectin liver 1; collectin liver protein 1; collectin sub-family member 10 (C-type lectin); collectin-10 isoform 2; collectin-10; collectin-34", "tax_id": 9606, "disease": "3MC syndrome 3 (Disease Ontology:DOID:0060577); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); breast ductal carcinoma (Disease Ontology:DOID:3007); lung squamous cell carcinoma (Disease Ontology:DOID:3907); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); ovary serous adenocarcinoma (Disease Ontology:DOID:5744)", "pathway": " (hsa:10584); (R-HSA-166662); (R-HSA-166663)", "pathway_count": 3, "publication_count": 29, "publication_id_list": "10224141;10639434;10925294;11532276;12396008;12450124;12975309;14280442;14702039;15199963;15489334;15728497;18445777;19801982;26173080;27057739;27341702;28301481;30108587;30459171;32157095;32751929;34740859;36925047;38036508;6019133;70787;7391573;8538770", "class_list": "glycogene", "function": "A novel COLEC10 mutation in a child with 3MC syndrome., [RefSeq, PubMed]; Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome. Review article Publication Status: Online-Only, [RefSeq, PubMed]; COLEC10 Induces Endoplasmic Reticulum Stress by Occupying GRP78 and Inhibits Hepatocellular Carcinoma., [RefSeq, PubMed]; Collectin liver 1 (CL-L1, collectin 10) and collectin kidney 1 (CL-K1, collectin 11) were found widespread and almost identical tissue with a high expression in epithelial cells in endo-/exocrine secretory tissues and mucosa. Publication Status: Online-Only, [RefSeq, PubMed]; Lectin that binds to various sugars: galactose > mannose = fucose > N-acetylglucosamine > N-acetylgalactosamine (PubMed:10224141). Acts as a chemoattractant, probably involved in the regulation of cell migration (PubMed:28301481)., [UniProtKB, PubMed, PubMed]; The C-type lectin COLEC10 is predominantly produced by hepatic stellate cells and involved in the pathogenesis of liver fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 375, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q3SYH6;Q6UW19", "ec_number_list": "", "go_molecular_function": "GO:0042056 chemoattractant activity;GO:0005537 D-mannose binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:1904888 cranial skeletal system development;GO:0006508 proteolysis;GO:0001867 complement activation, lectin pathway;GO:1903028 positive regulation of opsonization;GO:0002752 cell surface pattern recognition receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9Y6Z7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T8I9-1", "uniprot_id": "HENMT_HUMAN", "mass": 44525.0, "length": 393, "protein_name": "Small RNA 2'-O-methyltransferase", "gene_name": "HENMT1", "organism": "Human", "refseq_name": "small RNA 2'-O-methyltransferase", "refseq_ac": "NP_001096062", "gene_names_uniprotkb": "HENMT1; C1orf59", "gene_names_refseq": "C1orf59; HEN1; HENMT1", "protein_names_uniprotkb": "Small RNA 2'-O-methyltransferase; 2.1.1.386; HEN1 methyltransferase homolog 1", "protein_names_refseq": "HEN1 methyltransferase homolog 1; hua enhancer 1 homolog 1; small RNA 2'-O-methyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:113802); (R-HSA-5601884)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "11237011;18922463;21465557;22233380;23056369;23826142;23980886;24656595;28228285;28676534;28904123;29277012;29703750;31844290;32357974;32387766;32897882;32938616;33141586;33298915;33392160;33912179;34087483;34509645;35051231;36010968;36241641;37217939;38065897", "class_list": "", "function": "HENMT1 and PIWI proteins are expressed in a germ-cell-specific manner and required for transposon control., [RefSeq, PubMed]; Methylation substrates in mouse spermatogonial stem cells and the substrate-recognition mechanism of mammalian Hen1, [RefSeq, PubMed]; Methyltransferase that adds a 2'-O-methyl group at the 3'-end of piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. This probably protects the 3'-end of piRNAs from uridylation activity and subsequent degradation. Stabilization of piRNAs is essential for gametogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Screening of potential key genes in esophageal cancer based on RBP and expression verification of HENMT1., [RefSeq, PubMed]; The proposed PEC bioassay exhibited high selectivity and low detection limit of 3.36ng/mL for HENMT1 activity assay. Furthermore, the inhibition research indicated that chlorpyrifos could inhibit the HENMT1 activity with the IC50 value of 48.32nM., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8MRR6;B1AM16;B1AM17;Q96EJ7;Q96NN0", "ec_number_list": "3.6.4.13;2.1.1.386;3.1.26.-;5.6.2.5", "go_molecular_function": "GO:0090486 small RNA 2'-O-methyltransferase activity;GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0008171 O-methyltransferase activity;GO:0008173 RNA methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0043186 P granule", "go_biological_process": "GO:0030422 siRNA processing;GO:0034587 piRNA processing;GO:0001510 RNA methylation;GO:0031047 regulatory ncRNA-mediated gene silencing", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q5T8I9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02577-1", "uniprot_id": "HEN2_HUMAN", "mass": 15018.0, "length": 135, "protein_name": "Helix-loop-helix protein 2", "gene_name": "NHLH2", "organism": "Human", "refseq_name": "helix-loop-helix protein 2", "refseq_ac": "NP_001104531", "gene_names_uniprotkb": "NHLH2; BHLHA34; HEN2; KIAA0490", "gene_names_refseq": "HEN2; HH27; NHLH2; NSCL2; bHLHa34", "protein_names_uniprotkb": "Helix-loop-helix protein 2; Class A basic helix-loop-helix protein 34; HEN-2; NSCL-2; Nescient helix loop helix 2; bHLHa34", "protein_names_refseq": "HEN-2; NSCL-2; class A basic helix-loop-helix protein 34; helix-loop-helix protein 2", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism (Disease Ontology:DOID:0090070); hypogonadotropic hypogonadism 27 without anosmia (MONDO:MONDO:0030684)", "pathway": " (hsa:4808)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;1328219;1528853;15930276;18815487;32877896;35066646;36834605", "class_list": "", "function": "In Silico Examination of Single Nucleotide Missense Mutations in NHLH2, a Gene Linked to Infertility and Obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans., [RefSeq, PubMed]; Natural Selection at the NHLH2 Core Promoter Exceptionally Long CA-Repeat in Human and Disease-Only Genotypes in Late-Onset Neurocognitive Disorder., [RefSeq, PubMed]; Proposes the novel hypothesis that transcriptional activity by Nhlh2 (NHLH2 in humans) controls either the ability or the motivation for exercise [review] Review article, [RefSeq, PubMed]; The deregulated expression of neuronal-specific LMO3 and HEN2 contributes to the genesis and progression of human neuroblastoma in a lineage-specific manner., [RefSeq, PubMed]; Transcription factor which binds the E box motif 5'-CA[TC][AG]TG-3'. Involved in regulating energy expenditure, body mass, voluntary physical activity, mating behavior and reproductive longevity, acting through the hypothalamic-pituitary-gonadal axis. Acts as a transcriptional activator of target genes, including NDN, PCSK1, MC4R (By similarity). Is also a transcriptional activator of KISS1 (PubMed:35066646). May act centrally to regulate function of both white and brown adipose tissue. Together with NHLH1, required to maintain migration and survival of cells in the anterior extramural migration stream (aes), which forms the precerebellar nuclei. Also, in concert with NHLH1, may determine fate of gonadotropin releasing hormone-1 (GnRH-1) neurons., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T1P6", "ec_number_list": "", "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0001223 transcription coactivator binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q02577-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MV81-1", "uniprot_id": "HIG1C_HUMAN", "mass": 11079.0, "length": 97, "protein_name": "HIG1 domain family member 1C", "gene_name": "HIGD1C", "organism": "Human", "refseq_name": "HIG1 domain family member 1C", "refseq_ac": "NP_001103089", "gene_names_uniprotkb": "HIGD1C; UBIE2; UBIE", "gene_names_refseq": "GM921; HIGD1C", "protein_names_uniprotkb": "HIG1 domain family member 1C", "protein_names_refseq": "HIG1 domain family member 1C; HIG1 domain family, member 1C", "tax_id": 9606, "disease": "", "pathway": " (hsa:613227); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564)", "pathway_count": 4, "publication_count": 92, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11237011;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12714747;12837546;12869586;12906785;12969439;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;186667;18692468;19113821;19439913;19487573;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20929863;21750704;21958598;22363791;22427940;23150584;23270816;23564345;23747254;23775793;239860;24066844;24366874;24383451;24718924;25564869;25579166;26652033;28698372;31844290;33936100;3427020;34561969;3475708;36010968;4288886;5666113;6094553;7979252;7989588;8119488;9878551;9926927", "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:0005739 mitochondrion;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0097250 mitochondrial respirasome assembly", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "A8MV81-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MVS5-1", "uniprot_id": "HIDE1_HUMAN", "mass": 24753.0, "length": 230, "protein_name": "Protein HIDE1", "gene_name": "HIDE1", "organism": "Human", "refseq_name": "protein HIDE1 precursor", "refseq_ac": "NP_001129954", "gene_names_uniprotkb": "HIDE1; C19orf38", "gene_names_refseq": "C19orf38; HIDE1", "protein_names_uniprotkb": "Protein HIDE1", "protein_names_refseq": "Highly expressed in immature dendritic cell transcript 1; Protein HIDE1; protein HIDE1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:255809)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10.1101/2023.09.13.557529;24190977;26154972;29557506;31844290;32983136;35580925;36215666", "class_list": "", "function": "", "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": 10, "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": "B2RXI3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A8MVS5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "B2RPK0-1", "uniprot_id": "HGB1A_HUMAN", "mass": 24238.0, "length": 211, "protein_name": "High mobility group protein B1-like 1", "gene_name": "HMGB1P1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "HMGB1P1; HMG1L1; HMGB1L1", "gene_names_refseq": "", "protein_names_uniprotkb": "High mobility group protein B1-like 1; HMG-1L1; High mobility group protein 1-like 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 14, "publication_id_list": "22645359;25810538;26154972;27846572;28904123;31844290;32350084;32387766;32488085;32502341;33141586;33392160;33981976;35051231", "class_list": "", "function": "Binds preferentially single-stranded DNA and unwinds double-stranded DNA., [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:0003684 damaged DNA binding;GO:0003714 transcription corepressor activity;GO:0008289 lipid binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000793 condensed chromosome", "go_biological_process": "GO:0050792 regulation of viral process;GO:0006338 chromatin remodeling;GO:0006955 immune response;GO:0032722 positive regulation of chemokine production;GO:0032755 positive regulation of interleukin-6 production", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "B2RPK0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53FT3-1", "uniprot_id": "HIKES_HUMAN", "mass": 21628.0, "length": 197, "protein_name": "Protein Hikeshi", "gene_name": "HIKESHI", "organism": "Human", "refseq_name": "protein Hikeshi isoform 1", "refseq_ac": "NP_057485", "gene_names_uniprotkb": "HIKESHI; C11orf73; HSPC138; HSPC179; HSPC248", "gene_names_refseq": "C11orf73; HIKESHI; HLD13; HSPC138; HSPC179; L7RN6; OPI10", "protein_names_uniprotkb": "Protein Hikeshi", "protein_names_refseq": "Hikeshi, heat shock protein nuclear import factor; lethal, Chr 7, Rinchik 6; protein Hikeshi isoform 1; protein Hikeshi", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 13 (Disease Ontology:DOID:0060795)", "pathway": " (hsa:51501); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10954706;11237011;11747420;12853476;12917326;12974469;15364926;15802566;1586970;16278218;1754405;18235501;18235502;18550409;19229036;19914676;22465953;22541429;22735644;22940245;23349863;23481700;25576301;25760597;25892735;26154972;26545878;26992070;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29769354;29786170;30429286;30484775;31154438;31217245;31844290;32157095;32357974;32377716;32387766;32488085;32897882;32983136;33141586;33392160;33912179;33968037;34111619;34171305;34185709;34357683;34932366;35051231;35580925;36010968;36241641;37938771;38987995;7585962;8721986;8946918;9305631;9873016;9920933", "class_list": "", "function": "Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress: acts by mediating the nucleoporin-dependent translocation of ATP-bound HSP70 proteins into the nucleus. HSP70 proteins import is required to protect cells from heat shock damages. Does not translocate ADP-bound HSP70 proteins into the nucleus., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy., [RefSeq, PubMed]; HIKESHI silencing can enhance mild hyperthermia sensitivity in human oral squamous cell carcinoma HSC3 cells., [RefSeq, PubMed]; Identify a nuclear import pathway that operates during heat shock stress and is mediated by an evolutionarily conserved protein, Hikeshi (coded by the C11orf73 gene) binds to FG-Nups and translocates through nuclear pores on its own, showing characteristic features of nuclear transport carriers., [RefSeq, PubMed]; Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.P.V54L mutation in Hikeshi is associated with absence of nuclear HSP70 during heat shock stress., [RefSeq, PubMed]; The crystal structure of Hikeshi explains how Hikeshi participates in the regulation of nuclear import through the recognition of FG-Nups and which part of Hikeshi affects its binding to Hsp70., [RefSeq, PubMed]; The interaction between the import carrier Hikeshi and HSP70 is modulated by heat, facilitating the nuclear import of HSP70 under heat stress conditions., [RefSeq, PubMed]; This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "Q8WVE8;Q9NVQ2;Q9NZZ1;Q9P022;Q9P0N1", "ec_number_list": "", "go_molecular_function": "GO:0030544 Hsp70 protein binding;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0015031 protein transport;GO:0034605 cellular response to heat;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q53FT3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q03014-1", "uniprot_id": "HHEX_HUMAN", "mass": 30022.0, "length": 270, "protein_name": "Hematopoietically-expressed homeobox protein HHEX", "gene_name": "HHEX", "organism": "Human", "refseq_name": "hematopoietically-expressed homeobox protein HHEX", "refseq_ac": "NP_002720", "gene_names_uniprotkb": "HHEX; HEX; PRHX; PRH", "gene_names_refseq": "HEX; HHEX; HMPH; HOX11L-PEN; PRHX; PRH", "protein_names_uniprotkb": "Hematopoietically-expressed homeobox protein HHEX; Homeobox protein HEX; Homeobox protein PRH; Proline-rich homeodomain protein", "protein_names_refseq": "hematopoietically-expressed homeobox protein HHEX; homeobox protein HEX; homeobox protein PRH; homeobox, hematopoietically expressed; proline-rich homeodomain protein; proline-rich homeodomain-containing transcription factor", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:3087); (R-HSA-9937080)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11237011;12554669;1360645;19324893;20028982;23186163;25418920;25576301;26992070;28218747;28832583;29242379;29393594;29557506;29632046;29786170;30833945;31154438;31844290;31848261;32157095;32161166;32265295;32350084;32387766;32897882;33141586;33298915;33912179;35051231;35251023;35580925;36008411;36284347;37103601;37248264;37302518;38844969;7911091;8096636;8103988", "class_list": "", "function": "Association of HHEX and SLC30A8 Gene Polymorphisms with Gestational Diabetes Mellitus Susceptibility: A Meta-analysis. Review article, [RefSeq, PubMed]; CK2-induced cooperation of HHEX with the YAP-TEAD4 complex promotes colorectal tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Elucidation of HHEX in pancreatic endoderm differentiation using a human iPSC differentiation model. Publication Status: Online-Only, [RefSeq, PubMed]; HHEX suppresses advanced thyroid cancer by interacting with TLE3., [RefSeq, PubMed]; Recognizes the DNA sequence 5'-ATTAA-3' (By similarity). Transcriptional repressor (By similarity). Activator of WNT-mediated transcription in conjunction with CTNNB1 (PubMed:20028982). Establishes anterior identity at two levels; acts early to enhance canonical WNT-signaling by repressing expression of TLE4, and acts later to inhibit NODAL-signaling by directly targeting NODAL (By similarity). Inhibits EIF4E-mediated mRNA nuclear export (PubMed:12554669). May play a role in hematopoietic differentiation (PubMed:8096636)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; The HHEX-ABI2/SLC17A9 axis induces cancer stem cell-like properties and tumorigenesis in HCC. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [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": 3, "reported_mutagensis": 3, "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": "B1AQ17;Q96CE9", "ec_number_list": "", "go_molecular_function": "GO:0008301 DNA binding, bending;GO:0042803 protein homodimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0008190 eukaryotic initiation factor 4E binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0000785 chromatin;GO:0032993 protein-DNA complex", "go_biological_process": "GO:0071103 DNA conformation change;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", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q03014-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14774-1", "uniprot_id": "HLX_HUMAN", "mass": 50789.0, "length": 488, "protein_name": "H2.0-like homeobox protein", "gene_name": "HLX", "organism": "Human", "refseq_name": "H2.0-like homeobox protein", "refseq_ac": "NP_068777", "gene_names_uniprotkb": "HLX; HLX1", "gene_names_refseq": "HB24; HLX1; HLX", "protein_names_uniprotkb": "H2.0-like homeobox protein; Homeobox protein HB24; Homeobox protein HLX1", "protein_names_refseq": "H2.0-like homeo box-1; H2.0-like homeobox 1; H2.0-like homeobox protein; homeobox protein HB24; homeobox protein HLX1", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815)", "pathway": " (hsa:3142)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;1676597;17081983;19413330;24715725;27600516;28898547;29212571;29557506;30082823;30429286;30524438;30833945;31141539;31154438;31848261;32157095;32350084;32387766;32897882;32983136;33123756;33592498;34171305;34509645;35051231;35251023;35580925;36010968;36241641;37938771;7806220;8095486", "class_list": "", "function": "An important association between HLX transcription factor expression and abnormal human placental development in discordant twin pregnancies., [RefSeq, PubMed]; Epstein-Barr virus (EBV) activates NKL homeobox gene HLX in DLBCL. Publication Status: Online-Only, [RefSeq, PubMed]; HLX has a role in coordinating metabolic interplay regulates myeloid differentiation both in zebrafish and human hematopoietic stem and progenitor cells and in acute myeloid leukemia through partly overlapping pathways Publication Status: Online-Only, [RefSeq, PubMed]; HLX is a homeobox transcription factor gene which is relatively conserved across species. Hlx homozygous null mice have a short bowel and reduced muscle cells in the diaphragm, closely resembling the anomalies in the two fetuses and we therefore suggest that the HLX mutation in this family could explain the fetal findings, [RefSeq, PubMed]; Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R8A8;Q15988;Q59HE7;Q9NZ75", "ec_number_list": "", "go_molecular_function": "GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q14774-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05114-1", "uniprot_id": "HMGN1_HUMAN", "mass": 10659.0, "length": 100, "protein_name": "Non-histone chromosomal protein HMG-14", "gene_name": "HMGN1", "organism": "Human", "refseq_name": "non-histone chromosomal protein HMG-14", "refseq_ac": "NP_004956", "gene_names_uniprotkb": "HMGN1; HMG14", "gene_names_refseq": "HMG14; HMGN1", "protein_names_uniprotkb": "Non-histone chromosomal protein HMG-14; High mobility group nucleosome-binding domain-containing protein 1", "protein_names_refseq": "high mobility group nucleosome-binding domain-containing protein 1; high-mobility group (nonhistone chromosomal) protein 14; high-mobility group nucleosome binding 1; non-histone chromosomal protein HMG-14; nonhistone chromosomal protein HMG-14", "tax_id": 9606, "disease": "", "pathway": " (hsa:3150)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10739259;11237011;11438671;11862315;12773393;15302935;17924679;18318008;18452278;18669648;18993075;19367720;19413330;19608861;19651622;19664994;19690332;20068231;20089855;20166139;21406692;23186163;24275569;2563381;28190768;28510447;29242379;29557506;30428356;30444036;31611695;31844290;32157095;32350084;32488085;32938616;32983136;33592498;33968037;34019948;34857887;34946949;35251023;35561310;35580925;36463299;37217939;3782107", "class_list": "", "function": "Binds to the inner side of the nucleosomal DNA thus altering the interaction between the DNA and the histone octamer. May be involved in the process which maintains transcribable genes in a unique chromatin conformation. Inhibits the phosphorylation of nucleosomal histones H3 and H2A by RPS6KA5/MSK1 and RPS6KA3/RSK2 (By similarity)., [UniProtKB]; HMGN1 plays a significant role in CRLF2 driven Down Syndrome leukemia and provides a potential therapeutic target in this high-risk cohort., [RefSeq, PubMed]; Shaking up the silence: consequences of HMGN1 antagonizing PRC2 in the Down syndrome brain. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Spatial and Temporal Expression of High-Mobility-Group Nucleosome-Binding (HMGN) Genes in Brain Areas Associated with Cognition in Individuals with Down Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011]., [RefSeq]; Transcriptional amplification downstream of HMGN1 is enriched for stage-specific programs of B cells and B cell acute lymphoblastic leukemia, dependent on the developmental cellular context., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q3KQR8", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0031492 nucleosomal DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006325 chromatin organization;GO:0032786 positive regulation of DNA-templated transcription, elongation", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P05114-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75146-1", "uniprot_id": "HIP1R_HUMAN", "mass": 119388.0, "length": 1068, "protein_name": "Huntingtin-interacting protein 1-related protein", "gene_name": "HIP1R", "organism": "Human", "refseq_name": "huntingtin-interacting protein 1-related protein isoform 2", "refseq_ac": "NP_001290026", "gene_names_uniprotkb": "HIP1R; HIP12; KIAA0655", "gene_names_refseq": "HIP12; HIP1R; HIP3; ILWEQ", "protein_names_uniprotkb": "Huntingtin-interacting protein 1-related protein; HIP-12; HIP1-related protein; Huntingtin-interacting protein 12", "protein_names_refseq": "HIP-12; HIP1-related protein; huntingtin interacting protein 12; huntingtin-interacting protein 1-related protein isoform 2; huntingtin-interacting protein 1-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9026); (R-HSA-432722); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 195, "publication_id_list": "10394364;10535736;10542231;10559856;10559861;10559924;10625686;10766823;11063258;11082044;11231140;11237011;11239472;11470803;11516654;11517213;11532990;11577110;11590181;11604418;11694590;11877457;11877461;11889126;11994746;12057195;12213833;12447393;12847086;12952949;14555962;14581451;14617351;14622578;14622579;14732715;15102850;15252009;15260957;15318165;15339664;15502812;15502813;15533940;15649145;15703209;15802264;15895077;15916959;16103228;16155256;16215232;16326391;16410077;16415883;16516836;16707488;16798879;16880396;16903783;17018281;17035995;17116749;17158794;17494869;17512409;17540576;17609109;17681954;17762867;17765681;17978091;18093523;18388313;1847920;18669648;18790740;18981233;19092055;19255499;19287005;19296720;19458185;19536138;19575674;19603039;19696796;19713939;19776351;19809571;20033059;20059951;20068231;20211604;20231386;20428113;20448150;20826345;20946875;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22099461;22233676;22484487;22505844;22815487;22863004;23297414;23481700;23536704;23823722;23861397;23891661;24130457;24186068;24581490;24789820;24966051;25107275;25303366;25341920;25576301;26042225;26154972;26403691;26992070;27600516;27846572;27893789;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29557506;29632046;29632711;30315122;30410026;30429286;30459171;30524438;31154438;31672988;31844290;32157095;32350084;32488085;32548851;32897882;32938616;32983136;33298915;33936100;33968037;34357683;34561969;35051231;35209947;35580925;36010968;36284347;36811277;37938771;6146630;7877694;8374173;8524399;8552632;8670264;9092476;9100026;9427626;9428629;9635431;9736607;9852681", "class_list": "", "function": "Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis., [UniProtKB, PubMed, PubMed]; DNA methylation and miR-92a-3p-mediated repression of HIP1R promotes pancreatic cancer progression by activating the PI3K/AKT pathway., [RefSeq, PubMed]; Flurbiprofen inhibits cell proliferation in thyroid cancer through interrupting HIP1R-induced endocytosis of PTEN. Publication Status: Online-Only, [RefSeq, PubMed]; HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin. Identification of a novel interaction with clathrin light chain. (HIP12), [RefSeq, PubMed]; HIP1R acts as a tumor suppressor in gastric cancer by promoting cancer cell apoptosis and inhibiting migration and invasion through modulating Akt., [RefSeq, PubMed]; There is coordinated action of myosin VI and CLCa at the apical surface where these proteins are essential for fission of clathrin-coated pits. Myosin VI and Huntingtin-interacting protein 1-related protein (Hip1R) are mutually exclusive interactors with CLCa, and suggest a model for the sequential function of myosin VI and Hip1R in actin-mediated clathrin-coated vesicle budding. 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": 0, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 30, "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": "A6NHQ6;Q6NXG8;Q9UED9", "ec_number_list": "", "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0017124 SH3 domain binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005905 clathrin-coated pit;GO:0014069 postsynaptic density", "go_biological_process": "GO:0060453 regulation of gastric acid secretion;GO:1905445 positive regulation of clathrin coat assembly;GO:2000588 positive regulation of platelet-derived growth factor receptor-beta signaling pathway;GO:0006897 endocytosis;GO:0007015 actin filament organization", "synthesized_glycan_count": 0, "hit_score": 20.0, "record_id": "O75146-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06865-1", "uniprot_id": "HEXA_HUMAN", "mass": 60703.0, "length": 529, "protein_name": "Beta-hexosaminidase subunit alpha", "gene_name": "HEXA", "organism": "Human", "refseq_name": "beta-hexosaminidase subunit alpha isoform 2 preproprotein", "refseq_ac": "NP_000511", "gene_names_uniprotkb": "HEXA", "gene_names_refseq": "HEXA; TSD", "protein_names_uniprotkb": "Beta-hexosaminidase subunit alpha; 3.2.1.52; Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha", "protein_names_refseq": "N-acetyl-beta-glucosaminidase subunit alpha; beta-N-acetylhexosaminidase subunit alpha; beta-hexosaminidase subunit alpha isoform 2 preproprotein; beta-hexosaminidase subunit alpha; hexosaminidase A (alpha polypeptide); hexosaminidase subunit A", "tax_id": 9606, "disease": "Tay-Sachs disease (Disease Ontology:DOID:3320); GM2 gangliosidosis, AB variant (Disease Ontology:DOID:4795)", "pathway": " (hsa:3073); (R-HSA-2022857); (R-HSA-2024101); (R-HSA-2160916); (R-HSA-3656234); (R-HSA-9840310)", "pathway_count": 6, "publication_count": 302, "publication_id_list": "10.1007/s00018-021-03863-1;10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10191093;10196694;10339581;10406958;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11350981;11489889;11568288;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12885774;12888274;12909021;1301189;1301190;1301958;1302612;1307230;1318511;1322637;1352293;1352993;1384323;1415222;14514708;14566483;1463457;14648242;14727180;1483696;15003450;15035633;15090545;15213228;1522213;1532289;1533633;15458386;15503855;15510212;15647514;15714521;15773042;15845354;16104017;16229686;16230343;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17050540;17105727;1718266;1720305;1740330;1756715;1794986;1825014;1825792;1827944;1830584;1832817;1833974;1837283;1840600;18490185;18524657;1889421;1907800;1915858;19159218;19224584;1928092;19405096;1946389;19836391;19889881;1996872;2001789;20068231;20232353;20728381;2122463;2137287;2140574;2141777;2144098;2145759;21937992;22723944;2278539;22898188;22940367;2294750;23509262;235289;23584533;239890;24190977;24366607;2521932;2522660;2522679;2531748;25502872;25505266;25576301;2562955;25645385;25813380;25880248;25892735;26154972;26375851;26992070;2717620;27600516;27682588;27846572;27862975;27920218;28126847;28218747;28228285;2824459;28467828;2848800;28510447;28514659;28832583;28904123;29242379;29314611;29317506;2933746;2934978;29437277;29443946;29493099;29508533;2952641;2954459;29557506;2960521;2961848;29632711;2965147;29692406;2970528;2971395;2973311;29741879;29747811;2976595;2976757;29769354;29802621;3013851;3014515;30192525;30315122;30429286;3048308;30573663;30988135;31217245;31222486;3134052;3136930;31495489;3158659;31844290;31848261;3196333;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33298915;33392160;33592498;3362213;33691108;33717175;3375249;33912179;33936100;33968037;34019948;34087483;34089345;34171305;34185709;34357683;34433824;34554397;34561969;3456607;3468507;34932366;35051231;35154160;35251023;35580925;36010968;36215666;36241641;36284347;36907859;37074911;38665916;39940;40914422;5135907;5164093;527942;5581981;5822067;6959123;7213753;738706;7504405;7628016;7628066;7717398;7730378;7744740;7837766;7852280;7898712;7902672;7951261;8044648;8123671;8198136;8213840;8257995;8281145;8282124;8328462;8328470;8352284;8370580;8399327;8445615;8488832;8490625;8573994;8581357;8591035;8652542;8659543;8663398;8672428;8673609;8730294;8757036;8804427;8889578;8901634;8955159;8985184;9090523;9150157;9217013;9223416;9272736;9338580;9338583;9375850;9401008;9520418;9521684;9603435;9694901;9712871", "class_list": "glycogene;glycosylhydrolase", "function": "Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients., [RefSeq, PubMed]; Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. Publication Status: Online-Only, [RefSeq, PubMed]; Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides. The isozyme S is as active as the isozyme A on the anionic bis-sulfated glycans, the chondroitin-6-sulfate trisaccharide (C6S-3), and the dermatan sulfate pentasaccharide, and the sulfated glycosphingolipid SM2. The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide. Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 1, "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": 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": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 935, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 26, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B4DKE7;E7ENH7;Q53HS8;Q6AI32", "ec_number_list": "3.2.1.52", "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0008375 acetylglucosaminyltransferase activity;GO:0004563 beta-N-acetylhexosaminidase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0042582 azurophil granule", "go_biological_process": "GO:0006689 ganglioside catabolic process;GO:0030209 dermatan sulfate proteoglycan catabolic process;GO:0005975 carbohydrate metabolic process;GO:0006024 glycosaminoglycan biosynthetic process;GO:0030203 glycosaminoglycan metabolic process", "synthesized_glycan_count": 0, "hit_score": 33.7, "record_id": "P06865-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CJ69-1", "uniprot_id": "HMN2_HUMAN", "mass": 3081.0, "length": 28, "protein_name": "Humanin-like 2", "gene_name": "MTRNR2L2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MTRNR2L2", "gene_names_refseq": "", "protein_names_uniprotkb": "Humanin-like 2; HN2; MT-RNR2-like protein 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "19477263", "class_list": "", "function": "Plays a role as a neuroprotective and antiapoptotic factor., [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:0048019 receptor antagonist activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:1900118 negative regulation of execution phase of apoptosis", "synthesized_glycan_count": 0, "hit_score": 0.2, 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"GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:1900118 negative regulation of execution phase of apoptosis", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0CJ74-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CJ75-1", "uniprot_id": "HMN8_HUMAN", "mass": 2661.0, "length": 24, "protein_name": "Humanin-like 8", "gene_name": "MTRNR2L8", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "MTRNR2L8", "gene_names_refseq": "", "protein_names_uniprotkb": "Humanin-like 8; HN8; MT-RNR2-like protein 8", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "19477263", "class_list": "", "function": "Plays a role as a neuroprotective and antiapoptotic factor., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, 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"ec_number_list": "", "go_molecular_function": "GO:0048019 receptor antagonist activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:1900118 negative regulation of execution phase of apoptosis", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0CJ75-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DMR1-1", "uniprot_id": "HNRC4_HUMAN", "mass": 32029.0, "length": 293, "protein_name": "Heterogeneous nuclear ribonucleoprotein C-like 4", "gene_name": "HNRNPCL4", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "HNRNPCL4", "gene_names_refseq": "", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein C-like 4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:101060301)", "pathway_count": 1, "publication_count": 21, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) May bind 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). Binds SARS-CoV-2 S/Spike protein S1-derived peptide (LQPRTFLL) expressed on the surface of lung epithelial cells, inducing NK cell exhaustion and dampening of 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., [UniProtKB, PubMed, PubMed]; Antigen-specific memory NK cell responses against HIV and influenza use the NKG2/HLA-E axis., [RefSeq, PubMed]; HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. [provided by RefSeq, Jul 2008]., [RefSeq]; High-throughput characterization of HLA-E-presented CD94/NKG2x ligands reveals peptides which modulate NK cell activation. Erratum:[Nat Commun. 2023 Aug 29;14(1):5264. doi: 10.1038/s41467-023-40946-y. PMID: 37644057] Publication Status: Online-Only, [RefSeq, PubMed]; IFN-gamma in ovarian tumor microenvironment upregulates HLA-E expression and predicts a poor prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Non-classical major histocompatibility class Ib molecule involved in immune self-nonself discrimination. In complex with B2M/beta-2-microglobulin binds nonamer self-peptides derived from the signal sequence of classical MHC class Ia molecules (VL9 peptides - VMAPRT[V/L][L/V/I/F]L) (PubMed:18083576, PubMed:18339401, PubMed:35705051, PubMed:37264229, PubMed:9754572). Peptide-bound HLA-E-B2M heterotrimeric complex primarily functions as a ligand for natural killer (NK) cell inhibitory receptor KLRD1-KLRC1, enabling NK cells to monitor the expression of other MHC class I molecules in healthy cells and to tolerate self (PubMed:17179229, PubMed:18083576, PubMed:37264229, PubMed:9486650, PubMed:9754572). Upon cellular stress, preferentially binds signal sequence-derived peptides from stress-induced chaperones and is no longer recognized by NK cell inhibitory receptor KLRD1-KLRC1, resulting in impaired protection from NK cells (PubMed:12461076). Binds signal sequence-derived peptides from non-classical MHC class Ib HLA-G molecules and acts as a ligand for NK cell activating receptor KLRD1-KLRC2, likely playing a role in the generation and effector functions of adaptive NK cells and in maternal-fetal tolerance during pregnancy (PubMed:30134159, PubMed:37264229, PubMed:9754572). Besides self-peptides, can also bind and present pathogen-derived peptides conformationally similar to VL9 peptides to alpha-beta T cell receptor (TCR) on unconventional CD8-positive cytotoxic T cells, ultimately triggering antimicrobial immune response (PubMed:16474394, PubMed:20195504, PubMed:30087334, PubMed:34228645). Presents HIV gag peptides (immunodominant KAFSPEVIPMF and subdominant KALGPAATL epitopes) predominantly to CD8-positive T cell clones expressing a TRAV17-containing TCR, triggering HLA-E-restricted T cell responses (PubMed:34228645). Presents mycobacterial peptides to HLA-E-restricted CD8-positive T cells eliciting both cytotoxic and immunoregulatory functions (PubMed:20195504, PubMed:35705051)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Significance of HLA-E and its two NKG2 receptors in development of complications after allogeneic transplantation of hematopoietic stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; The complex HLA-E-nonapeptide in Behcet 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "E2G051;Q30169;Q6DU44;Q9BT83;Q9GIY7;Q9GIY8", "ec_number_list": "", "go_molecular_function": "GO:0046703 natural killer cell lectin-like receptor binding;GO:0005102 signaling receptor binding;GO:0030881 beta-2-microglobulin binding;GO:0042605 peptide antigen binding;GO:0042608 T cell receptor binding", "go_cellular_component": "GO:0032398 MHC class Ib protein complex;GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002715 regulation of natural killer cell mediated immunity;GO:0002717 positive regulation of natural killer cell mediated immunity;GO:0032736 positive regulation of interleukin-13 production;GO:0032759 positive regulation of TRAIL production", "synthesized_glycan_count": 0, "hit_score": 46.1, "record_id": "P13747-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15515-1", "uniprot_id": "HIS1_HUMAN", "mass": 6963.0, "length": 57, "protein_name": "Histatin-1", "gene_name": "HTN1", "organism": "Human", "refseq_name": "histatin-1 isoform 1 precursor", "refseq_ac": "NP_002150", "gene_names_uniprotkb": "HTN1; HIS1", "gene_names_refseq": "HIS1; HTN1; Hst1", "protein_names_uniprotkb": "Histatin-1; His1 12/38; His1-(12-38)-peptide; Histatin 2; Histatin-2; Histidine-rich protein 1; Hst1; Hst2; PPB; Post-PB protein", "protein_names_refseq": "PPB; histatin-1 isoform 1 precursor; histidine-rich protein 1; post-PB protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:3346); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "11120840;11313366;11389039;11971875;12493837;13816;14506276;14739326;1522221;15229136;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17363965;17502600;17503797;17567961;17964057;18021746;18160480;18185531;18650243;18673279;19095652;19179970;19254208;19818633;20103720;20180804;20382864;20395631;20510021;20845358;20973643;21787330;22262861;22327069;22455996;22701042;2303595;23302724;23426625;2372245;24219363;24256734;25075772;25461571;25596890;25903106;26148048;27089320;2719677;2773933;28542418;28751526;29786170;30429286;30524438;31154438;32225006;32484586;3286634;32983136;34233061;35489730;35970844;3944083;8336540;9523110;9665269;9756476", "class_list": "", "function": "Association Between PD-L1 and Histatin1, 3 Expression in Advanced Head and Neck Squamous Cell Carcinoma., [RefSeq, PubMed]; GPCR/endocytosis/ERK signaling/S2R is involved in the regulation of the internalization, mitochondria-targeting and -activating properties of human salivary histatin 1. Publication Status: Online-Only, [RefSeq, PubMed]; Histatin-1 is an endogenous ligand of the sigma-2 receptor., [RefSeq, PubMed]; Histatins (Hsts) are cationic and histidine-rich secreted peptides mainly synthesized by saliva glands of humans and higher primates (PubMed:3286634, PubMed:3944083). Hsts are considered to be major precursors of the protective proteinaceous structure on tooth surfaces (enamel pellicle). Hsts can be divided into two major groups according to their biological functions: antimicrobial Hsts (e.g. Hst 5/HTN3) and cell-activating Hsts (e.g. Hst 1/HTN1 and Hst 2/HTN1) (PubMed:32225006). Hst 1/HTN1 and Hst 2/HTN1 act in different cell types (epithelium, fibroblasts and endothelium) in oral and non-oral mucosa (PubMed:25903106, PubMed:28542418, PubMed:28751526, PubMed:32225006)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Histatins are salivary proteins with antimicrobial activity., [RefSeq, PubMed]; Hst 1 functions primarily as a wound healing factor by activating cell-surface and cell-cell adhesions, cell spreading and migration and it can also stimulate cellular metabolic activity (PubMed:18650243, PubMed:25903106, PubMed:28542418, PubMed:28751526, PubMed:32225006, PubMed:35970844). Hst 1 is internalized in host cells in a stereospecific and energy-dependent process, which is partially mediated by the G protein-coupled receptors (GPCR)-activated endocytosis (PubMed:35970844). Internalized Hst 1 is targeted and released via early endosomes trafficking to the mitochondria, where it significantly enhances mitochondrial energy metabolism (PubMed:32225006, PubMed:35970844). At the mitochondria, Hst 1 increases mitochondria-ER contacts through binding with ER receptor TMEM97, which also stimulates metabolic activity and cell migration and may as well regulate calcium homeostasis of the cell (PubMed:32225006, PubMed:34233061, PubMed:35970844). Also activates the ERK1/2 signaling pathway to promote cell migration, possibly upon interaction with GPRCs at the plasma membrane (PubMed:28751526). Also triggers the RIN2/Rab5/Rac1 signaling cascade which activates endothelial cell adhesion, spreading and migration required for angiogenesis in the oral wound healing process, however the receptor that transduces Hst 1 signal has not yet been identified (PubMed:28751526). Also displays antimicrobial functions against pathogenic yeast Candida albicans, although with less effectiveness than Hst 5 (PubMed:28751526, PubMed:3286634, PubMed:3944083)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Hst 2 consists of the fragment sequence 12-28 of Hst 1. Similar to Hst 1, actively and stereospecifically internalized in host cells and targeted to the mitochondria and the ER and promotes cell metabolic activity (PubMed:18650243, PubMed:32225006). Also activates the ERK1/2 signaling pathway to promote cell migration and wound closure (PubMed:18650243). In contrast with Hst 1, not able to promote cell-substrate and cell-cell adhesion (PubMed:25903106)., [UniProtKB, PubMed, PubMed, PubMed]; Human salivary histatin-1 (Hst1) promotes bone morphogenetic protein 2 (BMP2)-induced osteogenesis and angiogenesis., [RefSeq, PubMed]; Salivary Histatin 1 and 2 Are Targeted to Mitochondria and Endoplasmic Reticulum in Human Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Aug 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": 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:0005576 extracellular region;GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0035470 positive regulation of vascular wound healing;GO:0009893 positive regulation of metabolic process;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0090303 positive regulation of wound healing", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "P15515-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P17693-1", "uniprot_id": "HLAG_HUMAN", "mass": 38224.0, "length": 338, "protein_name": "HLA class I histocompatibility antigen, alpha chain G", "gene_name": "HLA-G", "organism": "Human", "refseq_name": "HLA class I histocompatibility antigen, alpha chain G isoform 2 precursor", "refseq_ac": "NP_002118", "gene_names_uniprotkb": "HLA-G; HLA-6.0; HLAG", "gene_names_refseq": "HLA-G; MHC-G", "protein_names_uniprotkb": "HLA class I histocompatibility antigen, alpha chain G; HLA G antigen; MHC class I antigen G", "protein_names_refseq": "HLA G antigen; HLA class I histocompatibility antigen, alpha chain G isoform 2 precursor; HLA class I histocompatibility antigen, alpha chain G; HLA-G histocompatibility antigen, class I, G; MHC class I antigen G; MHC class I protein; MHC class Ib antigen; b2 microglobulin; mutant MHC class I antigen; mutant MHC class Ib antigen", "tax_id": 9606, "disease": "graft-versus-host disease (Disease Ontology:DOID:0081267); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cystic fibrosis (Disease Ontology:DOID:1485); hepatitis C (Disease Ontology:DOID:1883); asthma (Disease Ontology:DOID:2841); allergic rhinitis (Disease Ontology:DOID:4481); myositis (Disease Ontology:DOID:633)", "pathway": " (hsa:3135); (R-HSA-1236974); (R-HSA-1236977); (R-HSA-198933); (R-HSA-877300); (R-HSA-909733); (R-HSA-9705671); (R-HSA-983170)", "pathway_count": 8, "publication_count": 375, "publication_id_list": "10064069;10067896;10190900;10190906;10395669;10468607;10499918;10542297;10600378;10727083;10746781;10777614;10825291;10982397;10982844;10986460;11092454;11137219;11160214;11163199;11237011;11247303;11265639;11290782;11337497;11377645;11404376;11489943;11513152;11514579;11520457;11556966;11585831;11807247;11857637;11858820;11861603;11920559;11955593;11955595;11955599;11972023;12019269;12029096;12040185;12213321;12436109;12436110;12438563;12446674;12454284;12483297;12582157;12588680;12645939;12692549;12759408;12766484;12842042;12853576;12874224;12915721;1396683;14586410;14681859;14718384;14719373;14722222;14769151;14970179;15034010;15047845;1508672;15136729;15143187;15155468;15172443;15187158;15208624;15286279;15304001;15312780;15322115;15388922;15449939;15530433;15534202;15541655;15580655;15607800;1570318;15718280;15778442;15778510;15781451;15800062;15851719;15864273;15927284;16009940;16014749;16091383;16129954;16171819;16210391;16237089;16339513;16366734;16380601;16455647;16465444;16467876;16473882;16551255;16737824;16754721;16809620;16893496;16904340;16928187;16987978;17045824;17056546;17056715;17057721;17088086;17125875;17237375;17251292;1730654;17316621;17337780;17351669;17656363;17969444;18031695;18035202;18037897;18055229;18209062;18234675;18268517;18362138;18575461;18591661;18593354;18692471;18802471;19119025;19149696;19193869;19217269;19261456;19304799;19342655;19359216;19361863;19426129;19498108;19575639;19592130;19851281;19918052;20049711;20122941;20130243;20179272;20304997;20363976;2038058;20448110;20605430;20643137;20730098;21050182;21241660;21800138;21841309;21877119;2211721;22153078;22396535;22941947;23061660;23121362;23184984;2336406;23613522;23695528;23737137;23929856;24305946;24417533;24453251;2450918;24714562;24715725;25083866;25371710;25502872;25576301;25703557;25716998;26154972;26284469;26300885;26302084;26460007;27859042;27862975;28348268;28904123;29262349;29493099;29557506;30484775;30485383;31217245;31844290;31850239;32032529;32113509;32157095;32350084;32353859;32357974;32387766;32428392;32502341;32511913;32574262;32589897;32661006;32726803;32728199;32758689;32862111;32897882;32938616;32953130;32979938;32983136;33024073;33043033;33060197;33097660;33110251;33117408;33141586;33189161;33193462;33239784;33298915;33349665;33360543;33372174;33372854;33392160;33396578;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33963333;33968037;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34211107;34239064;34290717;34341353;34357683;34375313;34400613;34433824;34439781;34452305;34471099;34502139;34509645;34561969;34597346;3480534;34932366;35051231;35102342;35154160;35318648;35561310;35580925;35643212;36010968;36215666;37051252;37264229;37938771;38492472;38956724;39030302;39179795;39408976;6162102;6548414;688397;7510216;7514165;7526154;7530745;7531291;7537377;7540766;7542404;7558941;7584149;7589701;7615558;7617032;7642652;7657660;7673114;7690989;7796299;7876241;7989753;8156998;8176225;8178173;8183892;8197134;8232552;8342042;8483949;8530158;8550631;8605876;8621447;8631301;8702790;8805247;8995416;9096384;9111318;9121453;9143706;9242679;9285412;9314561;9334213;9605141;9640257;9660177;9700512;9730896;9839550;9847332;9861020", "class_list": "", "function": "HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]., [RefSeq]; HLA-G isoforms, HLA-C allotype and their expressions differ between early abortus and placenta in relation to spontaneous abortions., [RefSeq, PubMed]; Hypoimmunogenic human iPSCs expressing HLA-G, PD-L1, and PD-L2 evade innate and adaptive immunity. Publication Status: Online-Only, [RefSeq, PubMed]; LILRB1-HLA-G axis defines a checkpoint driving natural killer cell exhaustion in tuberculosis., [RefSeq, PubMed]; Likely does not bind B2M and presents peptides., [UniProtKB]; Likely does not bind B2M and presents peptides. Negatively regulates NK cell- and CD8+ T cell-mediated cytotoxicity (PubMed:11290782)., [UniProtKB, PubMed]; Non-classical major histocompatibility class Ib molecule involved in immune regulatory processes at the maternal-fetal interface (PubMed:19304799, PubMed:23184984, PubMed:29262349). In complex with B2M/beta-2 microglobulin binds a limited repertoire of nonamer self-peptides derived from intracellular proteins including histones and ribosomal proteins (PubMed:7584149, PubMed:8805247). Peptide-bound HLA-G-B2M complex acts as a ligand for inhibitory/activating KIR2DL4, LILRB1 and LILRB2 receptors on uterine immune cells to promote fetal development while maintaining maternal-fetal tolerance (PubMed:16366734, PubMed:19304799, PubMed:20448110, PubMed:23184984, PubMed:27859042, PubMed:29262349). Upon interaction with KIR2DL4 and LILRB1 receptors on decidual NK cells, it triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:16366734, PubMed:19304799, PubMed:23184984, PubMed:29262349). Through interaction with KIR2DL4 receptor on decidual macrophages induces pro-inflammatory cytokine production mainly associated with tissue remodeling (PubMed:19304799). Through interaction with LILRB2 receptor triggers differentiation of type 1 regulatory T cells and myeloid-derived suppressor cells, both of which actively maintain maternal-fetal tolerance (PubMed:20448110, PubMed:27859042). May play a role in balancing tolerance and antiviral-immunity at maternal-fetal interface by keeping in check the effector functions of NK, CD8+ T cells and B cells (PubMed:10190900, PubMed:11290782, PubMed:24453251). Reprograms B cells toward an immune suppressive phenotype via LILRB1 (PubMed:24453251). May induce immune activation/suppression via intercellular membrane transfer (trogocytosis), likely enabling interaction with KIR2DL4, which resides mostly in endosomes (PubMed:20179272, PubMed:26460007). Through interaction with the inhibitory receptor CD160 on endothelial cells may control angiogenesis in immune privileged sites (PubMed:16809620)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PGRMC2 and HLA-G regulate immune homeostasis in a microphysiological model of human maternal-fetal membrane interface. Publication Status: Online-Only, [RefSeq, PubMed]; The Immune Modulation HLA-G*01:01:01 Full Allele Is Associated with Gastric Adenocarcinoma Development. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0030881 beta-2-microglobulin binding;GO:0042605 peptide antigen binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib;GO:0002645 positive regulation of tolerance induction;GO:0002666 positive regulation of T cell tolerance induction;GO:0002715 regulation of natural killer cell mediated immunity;GO:0002767 immune response-inhibiting cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 37.6, "record_id": "P17693-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19622-1", "uniprot_id": "HME2_HUMAN", "mass": 34211.0, "length": 333, "protein_name": "Homeobox protein engrailed-2", "gene_name": "EN2", "organism": "Human", "refseq_name": "homeobox protein engrailed-2", "refseq_ac": "NP_001418", "gene_names_uniprotkb": "EN2", "gene_names_refseq": "EN2", "protein_names_uniprotkb": "Homeobox protein engrailed-2; Homeobox protein en-2; Hu-En-2", "protein_names_refseq": "engrailed homolog 2; engrailed-2; homeobox protein en-2; homeobox protein engrailed-2; hu-En-2", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); autism spectrum disorder (Disease Ontology:DOID:0060041); thrombosis (Disease Ontology:DOID:0060903); Alzheimer's disease 1 (Disease Ontology:DOID:0080348); urolithiasis (Disease Ontology:DOID:0080653); Quebec platelet disorder (Disease Ontology:DOID:0111050); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); autistic disorder (Disease Ontology:DOID:12849); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); breast cancer (Disease Ontology:DOID:1612); squamous cell carcinoma (Disease Ontology:DOID:1749); status epilepticus (Disease Ontology:DOID:1824); atherosclerosis (Disease Ontology:DOID:1936); hepatitis B (Disease Ontology:DOID:2043); transient cerebral ischemia (Disease Ontology:DOID:224); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); pleural empyema (Disease Ontology:DOID:3798); lung non-small cell carcinoma (Disease Ontology:DOID:3908); papillary thyroid carcinoma (Disease Ontology:DOID:3969); renal cell carcinoma (Disease Ontology:DOID:4450); brain edema (Disease Ontology:DOID:4724); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); peritonitis (Disease Ontology:DOID:8283); appendicitis (Disease Ontology:DOID:8337); steatotic liver disease (Disease Ontology:DOID:9452); meningitis (Disease Ontology:DOID:9471); mitral valve prolapse (Disease Ontology:DOID:988)", "pathway": " (hsa:2020)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "1363401;15196920;15253423;16252243;2565873;30379171;30779550;32539763;32732864;33685351;35051231;35169223;37987507;7518789", "class_list": "", "function": "Altered staining patterns and expression level of Engrailed-2 in benign prostatic hyperplasia and prostate Cancer predict prostatic disease progression. Publication Status: Online-Only, [RefSeq, PubMed]; Circular RNA circ_0000467 regulates colorectal cancer development via miR-382-5p/EN2 axis., [RefSeq, PubMed]; EN2 as an oncogene promotes tumor progression via regulating CCL20 in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Engrailed 2 serves as a master regulator of the super-enhancer in the TNC gene locus in non-small cell lung cancer., [RefSeq, PubMed]; Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]., [RefSeq]; Hypermethylation of PDX1, EN2, and MSX1 predicts the prognosis of 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 38, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D252;Q549U3;Q9UD58", "ec_number_list": "", "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001650 fibrillar center;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0043524 negative regulation of neuron apoptotic process;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P19622-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31942-1", "uniprot_id": "HNRH3_HUMAN", "mass": 36926.0, "length": 346, "protein_name": "Heterogeneous nuclear ribonucleoprotein H3", "gene_name": "HNRNPH3", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein H3 isoform a", "refseq_ac": "NP_001309363", "gene_names_uniprotkb": "HNRNPH3; HNRPH3", "gene_names_refseq": "2H9; HNRNPH3; HNRPH3", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein H3; Heterogeneous nuclear ribonucleoprotein 2H9; hnRNP 2H9; hnRNP H3", "protein_names_refseq": "heterogeneous nuclear ribonucleoprotein 2H9; heterogeneous nuclear ribonucleoprotein H3 isoform a; hnRNP 2H9; hnRNP H3", "tax_id": 9606, "disease": "", "pathway": " (hsa:3189)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "10858537;11152131;11466336;1286667;15592455;15944288;17081983;18212344;18452278;18669648;18691976;18707149;19369195;19562805;19664995;19690332;20068231;20112406;21406692;23186163;23481700;24129315;24275569;24366607;25469497;25892735;26929215;26992070;27452731;27846572;27862975;27920218;28063628;28352266;28510447;28904123;29242379;29331515;29351928;29393594;29557506;29632046;29786170;29930882;30315122;30429286;30484775;30833945;30946933;31154438;31844290;32157095;32161166;32350084;32357974;32387766;32502341;32870666;32938616;32983136;33214551;33298915;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34229054;34484222;34561969;34725712;35008409;35051231;35318648;35580925;36215666;36241641;37938771;38665916;40596516;40914422;8999868", "class_list": "", "function": "A novel heterogeneous nuclear ribonucleoprotein H3-ALK receptor tyrosine kinase rearrangement was found in one de novo salivary duct carcinoma, [RefSeq, PubMed]; Involved in the splicing process and participates in early heat shock-induced splicing arrest. Due to their great structural variations the different isoforms may possess different functions in the splicing reaction., [UniProtKB]; Long Noncoding RNA RP11-115N4.1 Promotes Inflammatory Responses by Interacting With HNRNPH3 and Enhancing the Transcription of HSP70 in Unexplained Recurrent Spontaneous Abortion. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "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": "A8K682;B3KRE1;Q9BSX1;Q9NP53;Q9NP96;Q9NPA7;Q9NPI4;Q9UFU4;Q9Y4J5", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006396 RNA processing;GO:0030855 epithelial cell differentiation;GO:0008380 RNA splicing;GO:0043484 regulation of RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P31942-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32754-1", "uniprot_id": "HPPD_HUMAN", "mass": 44964.0, "length": 393, "protein_name": "4-hydroxyphenylpyruvate dioxygenase", "gene_name": "HPD", "organism": "Human", "refseq_name": "4-hydroxyphenylpyruvate dioxygenase isoform 2", "refseq_ac": "NP_001165464", "gene_names_uniprotkb": "HPD; PPD", "gene_names_refseq": "4-HPPD; 4HPPD; GLOD3; HPD; HPPDASE; HPPD; PPD", "protein_names_uniprotkb": "4-hydroxyphenylpyruvate dioxygenase; 1.13.11.27; 2.1.1.348; 4-hydroxyphenylpyruvic acid oxidase; 4HPPD; HPD; HPPDase; N(6)-adenosine-methyltransferase HPD", "protein_names_refseq": "4-hydroxyphenylpyruvate dioxygenase isoform 2; 4-hydroxyphenylpyruvic acid oxidase; glyoxalase domain containing 3; p-hydroxyphenylpyruvate dioxygenase", "tax_id": 9606, "disease": "tyrosinemia type III (Disease Ontology:DOID:0050727); hawkinsinuria (Disease Ontology:DOID:0111362)", "pathway": " (hsa:3242); (R-HSA-8963684)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10876237;10942115;11073718;11327815;1339442;16640556;17560158;20068231;20166139;20677779;21153519;24275569;26226126;31537781;32109208;32891822;34047349;34471290;36580660;37794595;5487549;7851880;8364576;8521727;8782815;9325050", "class_list": "", "function": "Catalyzes the conversion of 4-hydroxyphenylpyruvic acid to homogentisic acid, one of the steps in tyrosine catabolism (PubMed:10942115, PubMed:1339442, PubMed:34047349, PubMed:37794595). In addition may act as a N6-methyltransferase that methylates adenosine residues at the N(6) position of some RNAs (PubMed:10942115)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The polar oxy-metabolome reveals the 4-hydroxymandelate CoQ10 synthesis pathway., [RefSeq, PubMed]; The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]., [RefSeq]; Tyrosine metabolic enzyme HPD is decreased and predicts unfavorable outcomes in hepatocellular carcinoma., [RefSeq, PubMed]; Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "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": "A0A0B4J1R4;A8K461;B3KQ63;Q13234", "ec_number_list": "1.13.11.27;2.1.1.348;2.1.1.346;2.1.1.9", "go_molecular_function": "GO:0003868 4-hydroxyphenylpyruvate dioxygenase activity;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006559 L-phenylalanine catabolic process;GO:0006572 L-tyrosine catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P32754-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35914-1", "uniprot_id": "HMGCL_HUMAN", "mass": 34360.0, "length": 325, "protein_name": "Hydroxymethylglutaryl-CoA lyase, mitochondrial", "gene_name": "HMGCL", "organism": "Human", "refseq_name": "hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor", "refseq_ac": "NP_000182", "gene_names_uniprotkb": "HMGCL", "gene_names_refseq": "HL; HMGCL1; HMGCL", "protein_names_uniprotkb": "Hydroxymethylglutaryl-CoA lyase, mitochondrial; 3-hydroxy-3-methylglutarate-CoA lyase; 4.1.3.4; HL; HMG-CoA lyase", "protein_names_refseq": "3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; HMG-CoA lyase; hydroxymethylglutaricaciduria; hydroxymethylglutaryl-CoA lyase, mitochondrial isoform 1 precursor; hydroxymethylglutaryl-CoA lyase, mitochondrial; mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase", "tax_id": 9606, "disease": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency (Disease Ontology:DOID:0070541); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:3155); (R-HSA-77111); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 130, "publication_id_list": "10022913;10562279;10673331;11101887;11129331;11237011;11479731;11546814;11781871;11931631;12456682;12464283;12559034;12578380;12623130;12717447;12746442;12874287;12885776;15122894;15545321;15858711;16330550;16380372;1639787;16601870;16854980;17007944;17173698;17459752;17726030;17762044;18359941;18712838;19036343;19177531;19197237;19208625;19584060;19608861;19632994;20102333;20178365;21554508;21952825;21976670;21980954;22002062;22057399;22371489;22645359;22747494;22847177;22865860;23396451;23481700;23963456;24235149;24865970;25016021;25418920;25538232;25854684;26024233;26086376;26138649;26220973;26344566;26811146;26992070;27452731;27597759;27846572;27920218;28411811;28521612;28611990;28649982;28765278;28787099;28832583;28931870;29242379;29493099;29508533;29632046;29786170;30429286;30573663;31844290;31998317;32157095;32387766;32938616;33123756;33298915;33392160;33592498;33633747;34087483;34357683;34509645;35051231;35580925;36010968;36241641;36508088;3709573;38069906;38551020;7061490;7527399;7719337;7790377;8440722;8566388;8617516;8798725;8824437;8858165;8991089;9090381;9090382;9090383;9463337;9539740;9653144;9668159;9784232;9837948", "class_list": "", "function": "HMGCL-induced beta-hydroxybutyrate production attenuates hepatocellular carcinoma via DPP4-mediated ferroptosis susceptibility. Erratum:[Hepatol Int. 2023 Apr;17(2):516. doi: 10.1007/s12072-022-10476-8. PMID: 36635611], [RefSeq, PubMed]; Metabolic modulation of histone acetylation mediated by HMGCL activates the FOXM1/beta-catenin pathway in glioblastoma., [RefSeq, PubMed]; MiR-1202 regulates BPH-1 cell proliferation, apoptosis, and epithelial-to-mesenchymal transition through targeting HMGCL., [RefSeq, PubMed]; Mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3-methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis. Terminal step in leucine catabolism. Ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The expression of HMGCL was silenced in nasopharyngeal carcinoma tissue. Downregulation of HMGCL in nasopharyngeal carcinoma was associated with low intracellular beta-hydroxybutyrate (beta-HB) production, thereby reducing reactive oxygen species (ROS) generation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 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": "B4DUP4;B7UCC6;D3Y5K7;Q6IBC0;Q96FP8", "ec_number_list": "3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;2.3.2.27;1.1.1.42;1.11.1.6;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.1.16;2.3.1.155;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:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0046872 metal ion binding;GO:0005198 structural molecule activity;GO:0004419 hydroxymethylglutaryl-CoA lyase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0046951 ketone body biosynthetic process;GO:0006552 L-leucine catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P35914-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54868-1", "uniprot_id": "HMCS2_HUMAN", "mass": 56635.0, "length": 508, "protein_name": "Hydroxymethylglutaryl-CoA synthase, mitochondrial", "gene_name": "HMGCS2", "organism": "Human", "refseq_name": "hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 2 precursor", "refseq_ac": "NP_001159579", "gene_names_uniprotkb": "HMGCS2", "gene_names_refseq": "HMGCS2", "protein_names_uniprotkb": "Hydroxymethylglutaryl-CoA synthase, mitochondrial; 2.3.3.10; 3-hydroxy-3-methylglutaryl coenzyme A synthase; HMG-CoA synthase", "protein_names_refseq": "3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial); 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial); HMG-CoA synthase; hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 2 precursor; hydroxymethylglutaryl-CoA synthase, mitochondrial; testicular tissue protein Li 88", "tax_id": 9606, "disease": "HMG-CoA synthase 2 deficiency (Disease Ontology:DOID:0081168); extrahepatic cholestasis (Disease Ontology:DOID:13619); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:3158); (R-HSA-1989781); (R-HSA-77111); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 104, "publication_id_list": "10777541;11228257;11267664;11479731;11923310;12118000;12177166;12198491;12505311;12582161;12623130;12647205;14623864;15067378;15130092;15522782;15635043;15870080;16115876;16380219;16380372;1639787;16601895;16940161;16972786;17101804;17297443;17579211;17762044;18540824;18719978;18848529;19088433;19710929;19841671;19934321;20102333;20110263;20346956;21952825;22262461;22710082;22847177;22865860;23201127;23396451;23751782;23931759;24196956;24275569;24315374;24366607;24520911;25511235;25802875;26374642;26504172;26923599;27496948;27642048;28377575;28396416;29301859;29557506;29597274;29789417;29932645;30120231;30779550;31154438;31327635;31530632;31695197;31844290;32161166;32357974;32387766;32488085;32938616;33257573;34019948;34704252;34943861;35051231;35870450;36284347;36629048;3709573;37670031;38658970;38704133;38965575;39098229;7061490;7623837;7685352;7851882;7892212;7893153;8440722;8647822;9012850;9305755;9748239", "class_list": "", "function": "A novel lncRNA LOC101928222 promotes colorectal cancer angiogenesis by stabilizing HMGCS2 mRNA and increasing cholesterol synthesis. Publication Status: Online-Only, [RefSeq, PubMed]; ADORA3 activation promotes goblet cell differentiation via enhancing HMGCS2-mediated ketogenesis in ulcerative colitis., [RefSeq, PubMed]; BET inhibition decreases HMGCS2 and sensitizes resistant pancreatic tumors to gemcitabine., [RefSeq, PubMed]; Catalyzes the first irreversible step in ketogenesis, condensing acetyl-CoA to acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate., [UniProtKB, PubMed, PubMed, PubMed]; Downregulation of HMGCS2 mediated AECIIs lipid metabolic alteration promotes pulmonary fibrosis by activating fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; HMGCS2 serves as a potential biomarker for inhibition of renal clear cell carcinoma growth. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z8R3;D3Y5K6;Q5SZU2;Q6IBF4", "ec_number_list": "2.3.3.1;1.4.1.3;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;5.6.1.7;1.2.4.1;2.3.1.168;2.3.1.-;4.98.1.1;1.1.1.38;2.3.1.9;7.1.1.2;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;3.6.4.10;1.1.1.37;5.3.3.8;1.3.8.1;1.3.8.5;3.1.2.2;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;5.3.3.21;2.7.11.2;2.7.11.-;2.3.1.48;1.1.1.35;3.6.4.-;2.7.1.23;2.1.1.319;5.6.2.3;2.1.1.-;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;3.1.13.1;5.6.2.6;3.6.4.13;6.1.1.5;2.3.1.41", "go_molecular_function": "GO:0042802 identical protein binding;GO:0004421 hydroxymethylglutaryl-CoA synthase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0001889 liver development;GO:0007584 response to nutrient;GO:0032869 cellular response to insulin stimulus;GO:0042594 response to starvation;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "P54868-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P84074-1", "uniprot_id": "HPCA_HUMAN", "mass": 22427.0, "length": 193, "protein_name": "Neuron-specific calcium-binding protein hippocalcin", "gene_name": "HPCA", "organism": "Human", "refseq_name": "neuron-specific calcium-binding protein hippocalcin", "refseq_ac": "NP_002134", "gene_names_uniprotkb": "HPCA; BDR2", "gene_names_refseq": "BDR2; DYT2; HPCA", "protein_names_uniprotkb": "Neuron-specific calcium-binding protein hippocalcin; Calcium-binding protein BDR-2", "protein_names_refseq": "calcium-binding protein BDR-2; dystonia 2, torsion (autosomal recessive); neuron-specific calcium-binding protein hippocalcin", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); torsion dystonia 2 (Disease Ontology:DOID:0090038); Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:3208)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "25576301;25799108;26992070;28398555;28411811;30145809;31486848;33392160;33912179;36241641;8166736;9931466", "class_list": "", "function": "Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity)., [UniProtKB, PubMed, UniProtKB]; HPCA mutations lead to recessively inherited dystonia, [RefSeq, PubMed]; Hippocalcin forms oligomers upon calcium binding and directly interacts with VGCCs. The dystonia-causing mutations did not affect protein stability or folding. In common for both T71N and A190T mutants was an impaired calcium-dependent oligomerisation and increased intracellular calcium influx after KCl depolarisation., [RefSeq, PubMed]; MiR-24-3p is an important miRNA that regulates neuronal differentiation by controlling HPCA expression., [RefSeq, PubMed]; The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9T3;D3DPQ7;P32076;P41211;P70510", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:1901986 response to ketamine;GO:1904010 response to Aroclor 1254;GO:0019722 calcium-mediated signaling;GO:0071277 cellular response to calcium ion;GO:0060041 retina development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P84074-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02575-1", "uniprot_id": "HEN1_HUMAN", "mass": 14618.0, "length": 133, "protein_name": "Helix-loop-helix protein 1", "gene_name": "NHLH1", "organism": "Human", "refseq_name": "helix-loop-helix protein 1", "refseq_ac": "NP_005589", "gene_names_uniprotkb": "NHLH1; BHLHA35; HEN1", "gene_names_refseq": "HEN1; NHLH1; NSCL1; NSCL; bHLHa35", "protein_names_uniprotkb": "Helix-loop-helix protein 1; Class A basic helix-loop-helix protein 35; HEN-1; NSCL-1; Nescient helix loop helix 1; bHLHa35", "protein_names_refseq": "HEN-1; NSCL-1; class A basic helix-loop-helix protein 35; helix-loop-helix protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4807)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "1328219;1528853;24366607;25243493;27149122;30379171", "class_list": "", "function": "Expression of NSCL-1 and NSCL-2 in the developing central and peripheral nervous system, most likely in developing neurons., [RefSeq, PubMed]; May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system., [UniProtKB]; The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002]., [RefSeq]; The polymorphism was further reproducibly associated with a DNA methylation signature in whole blood (P = 4.5x10-40) that also associated with allergic sensitization and expression in blood of the cytokine TSLP (P = 1.1x10-4). Knockdown of the transcription factor predicted to bind the enhancer region (NHLH1) in a human cell line (HEK293) expressing NHLH1 resulted in lower TSLP expression Publication Status: Online-Only, [RefSeq, PubMed]; This study identified that CGPs was found to significantly correlate with the differential expression and methylation of genes encoding nescient helix-loop-helix 1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q02575-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q05925-1", "uniprot_id": "HME1_HUMAN", "mass": 40115.0, "length": 392, "protein_name": "Homeobox protein engrailed-1", "gene_name": "EN1", "organism": "Human", "refseq_name": "homeobox protein engrailed-1", "refseq_ac": "NP_001417", "gene_names_uniprotkb": "EN1", "gene_names_refseq": "EN1; ENDOVESLB", "protein_names_uniprotkb": "Homeobox protein engrailed-1; Homeobox protein en-1; Hu-En-1", "protein_names_refseq": "engrailed homolog 1; homeobox protein en-1; homeobox protein engrailed-1; hu-En-1", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); acute promyelocytic leukemia (Disease Ontology:DOID:0060318); von Willebrand's disease 1 (Disease Ontology:DOID:0060573); osteonecrosis (Disease Ontology:DOID:10159); IgA vasculitis (Disease Ontology:DOID:11123); disseminated intravascular coagulation (Disease Ontology:DOID:11247); sciatic neuropathy (Disease Ontology:DOID:11446); diabetic angiopathy (Disease Ontology:DOID:11713); gestational diabetes (Disease Ontology:DOID:11714); factor VIII deficiency (Disease Ontology:DOID:12134); blood coagulation disease (Disease Ontology:DOID:1247); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); Parkinson's disease (Disease Ontology:DOID:14330); status epilepticus (Disease Ontology:DOID:1824); transient cerebral ischemia (Disease Ontology:DOID:224); severe acute respiratory syndrome (Disease Ontology:DOID:2945); antiphospholipid syndrome (Disease Ontology:DOID:2988); acute kidney failure (Disease Ontology:DOID:3021); Noonan syndrome (Disease Ontology:DOID:3490); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); brain edema (Disease Ontology:DOID:4724); myocardial infarction (Disease Ontology:DOID:5844); leukopenia (Disease Ontology:DOID:615); peritonitis (Disease Ontology:DOID:8283); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); ENDOVE syndrome, limb-only type (MONDO:MONDO:0030978); ENDOVE syndrome, limb-brain type (MONDO:MONDO:0030979)", "pathway": " (hsa:2019)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "1363401;30315122;33568816;35051231;35163043;36010968;38110836;38153509;38282121;38418183", "class_list": "", "function": "EN1 Regulates Cell Growth and Proliferation in Human Glioma Cells via Hedgehog Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Engrailed-1 Promotes Pancreatic Cancer Metastasis., [RefSeq, PubMed]; Homeobox-containing genes are thought to have a role in controlling development. In Drosophila, the 'engrailed' (en) gene plays an important role during development in segmentation, where it is required for the formation of posterior compartments. Different mutations in the mouse homologs, En1 and En2, produced different developmental defects that frequently are lethal. The human engrailed homologs 1 and 2 encode homeodomain-containing proteins and have been implicated in the control of pattern formation during development of the central nervous system. [provided by RefSeq, Jul 2008]., [RefSeq]; Required for proper formation of the apical ectodermal ridge and correct dorsal-ventral patterning in the limb., [UniProtKB, UniProtKB]; TGFbeta-induced EN1 promotes tumor budding of adenoid cystic carcinoma in patient-derived organoid model., [RefSeq, PubMed]; The osteoporosis susceptibility SNP rs188303909 at 2q14.2 regulates EN1 expression by modulating DNA methylation and E2F6 binding., [RefSeq, PubMed]; [En1 promotes cell proliferation and migration via Hedgehog signaling pathway in esophageal squamous cell carcinoma]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 32, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZG44", "ec_number_list": "", "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008344 adult locomotory behavior;GO:0043524 negative regulation of neuron apoptotic process;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q05925-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14527-1", "uniprot_id": "HLTF_HUMAN", "mass": 113929.0, "length": 1009, "protein_name": "DNA-dependent ATPase/E3 ubiquitin-protein ligase HLTF", "gene_name": "HLTF", "organism": "Human", "refseq_name": "DNA-dependent ATPase/E3 ubiquitin-protein ligase HLTF isoform 2", "refseq_ac": "NP_001305863", "gene_names_uniprotkb": "HLTF; HIP116A; RNF80; SMARCA3; SNF2L3; ZBU1", "gene_names_refseq": "HIP116A; HIP116; HLTF1; HLTF; RNF80; SMARCA3; SNF2L3; ZBU1", "protein_names_uniprotkb": "DNA-dependent ATPase/E3 ubiquitin-protein ligase HLTF; 2.3.2.27; 3.6.4.-; DNA-binding protein/plasminogen activator inhibitor 1 regulator; HIP116; HLTF; Helicase-like transcription factor; RING finger protein 80; RING-type E3 ubiquitin transferase HLTF; SMARCA3; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 3; Sucrose nonfermenting protein 2-like 3", "protein_names_refseq": "DNA-binding protein/plasminogen activator inhibitor-1 regulator; DNA-dependent ATPase/E3 ubiquitin-protein ligase HLTF isoform 2; DNA-dependent ATPase/E3 ubiquitin-protein ligase HLTF; RING finger protein 80; RING-type E3 ubiquitin transferase HLTF; SNF2-like 3; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 3; sucrose nonfermenting protein 2-like 3; sucrose nonfermenting-like 3", "tax_id": 9606, "disease": "gastrointestinal system cancer (Disease Ontology:DOID:3119)", "pathway": " (hsa:6596); (R-HSA-8866654)", "pathway_count": 2, "publication_count": 144, "publication_id_list": "10391891;10562279;11237011;11740563;11904375;15215855;15215856;15302935;16307923;16868077;17081983;17108083;17130289;17726030;18316726;18359941;18452278;18669648;18691976;18719106;19208625;19410543;19723507;1994885;20068231;21203937;21329877;21396873;21457752;21554508;21795603;22021426;22544926;23481700;24129315;24366607;24662292;24714562;24807418;24979766;25030448;25170678;25418920;25576301;25645385;25892735;25936802;26051180;26086376;26154972;26210183;26216882;26344566;26350214;26375851;26711259;26728094;26811146;26929215;26992070;27569044;27597759;27600516;27798111;27846572;27862975;27893789;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31960921;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34357683;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37487091;37938771;39142279;40680746;40914422;7876228;8342330;8625414;8672239;8991089;9126292", "class_list": "", "function": "Functions as a DNA-dependent ATPase and E3 ubiquitin-protein ligase involved in chromatin regulation and DNA damage tolerance (DDT) (PubMed:18316726, PubMed:18719106, PubMed:26051180, PubMed:31960921, PubMed:39142279, PubMed:40680746). Catalyzes 'Lys-63'-linked polyubiquitination of monoubiquitinated PCNA at 'Lys-164' in response to genotoxic stress, promoting error-free postreplication repair via template switching (PubMed:18316726, PubMed:18719106). Acts as an epigenetic regulator by promoting recruitment of DNMT1, thereby ensuring DNA methylation inheritance: specifically binds histone H3 trimethylated at 'Lys-9' (H3K9me3) and mediates histone H3 'Lys-23' polyubiquitination (H3K23ub), a docking site for DNMT1, leading to DNMT1 recruitment and replication-coupled DNA methylation maintenance (PubMed:40680746). Catalyzes formation of H3K23ub in two steps: first mediates monoubiquitination together with UBE2E1 and UBE2D2, and then extends ubiquitin chains via 'Lys-63'-linked ubiquitination together with UBE2N and UBE2V2 (PubMed:40680746). Also acts as a chromatin redodeling factor, thereby regulating transcription (PubMed:10391891, PubMed:1994885, PubMed:9126292). Exhibits ATP-dependent double-stranded DNA (dsDNA) translocase activity but lacks classical helicase activity; mediates replication fork reversal by concertedly unwinding and annealing nascent and parental strands, thereby suppressing DNA synthesis and maintaining genomic stability (PubMed:1994885). Resolves G-quadruplex (G4) DNA structures in cooperation with MSH2, limiting replication stress and G4 accumulation across the cell cycle (PubMed:39142279). Contributes to nucleotide excision repair by evicting lesion-containing oligonucleotides using its HIRAN and ATPase domains (PubMed:26051180). Can displace single-stranded DNA from triplex structures through ATP-dependent dsDNA translocation (PubMed:26051180, PubMed:31960921). Also has protein clearing activity at the stalled replication fork, facilitating restart of DNA replication (PubMed:21795603)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HLTF resolves G4s and promotes G4-induced replication fork slowing to maintain genome stability., [RefSeq, PubMed]; The helicase-like transcription factor redirects the autophagic flux and restricts human T cell leukemia virus type 1 infection., [RefSeq, PubMed]; This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 11, "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": "D3DNH3;Q14536;Q16051;Q7KYJ6;Q86YA5;Q92652;Q96KM9", "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.-.-;2.3.2.23;3.6.5.-;7.6.2.1;2.3.2.27;7.2.2.-;5.6.2.-;2.3.2.-;2.7.11.1;3.6.1.15;3.1.4.-;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016887 ATP hydrolysis activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006281 DNA repair;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006974 DNA damage response;GO:0016567 protein ubiquitination;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q14527-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15651-1", "uniprot_id": "HMGN3_HUMAN", "mass": 10666.0, "length": 99, "protein_name": "High mobility group nucleosome-binding domain-containing protein 3", "gene_name": "HMGN3", "organism": "Human", "refseq_name": "high mobility group nucleosome-binding domain-containing protein 3 isoform c", "refseq_ac": "NP_001188291", "gene_names_uniprotkb": "HMGN3; PNAS-24; TRIP7", "gene_names_refseq": "HMGN3; PNAS-24; PNAS-25; TRIP7", "protein_names_uniprotkb": "High mobility group nucleosome-binding domain-containing protein 3; TR-interacting protein 7; TRIP-7; Thyroid receptor-interacting protein 7", "protein_names_refseq": "TR-interacting protein 7; high mobility group nucleosome-binding domain-containing protein 3 isoform c; high mobility group nucleosome-binding domain-containing protein 3; thyroid hormone receptor interacting protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:9324)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;11356838;12033773;17081983;18669648;19413330;19651622;19651901;20068230;20068231;21406692;21947420;23186163;25576301;27452731;27726376;29242379;29393594;29508533;29557506;29786170;29789417;31611695;31844290;32157095;32161166;32983136;33214551;34019948;34561969;35251023;35561310;35635715;36284347;36412513;7776974", "class_list": "", "function": "Binds to nucleosomes, regulating chromatin structure and consequently, chromatin-dependent processes such as transcription, DNA replication and DNA repair. Affects both insulin and glucagon levels and modulates the expression of pancreatic genes involved in insulin secretion. Regulates the expression of the glucose transporter SLC2A2 by binding specifically to its promoter region and recruiting PDX1 and additional transcription factors. Regulates the expression of SLC6A9, a glycine transporter which regulates the glycine concentration in synaptic junctions in the central nervous system, by binding to its transcription start site. May play a role in ocular development and astrocyte function (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; HMGN3 represses transcription of epithelial regulators to promote migration of cholangiocarcinoma in a SNAI2-dependent manner., [RefSeq, PubMed]; Loss of HMGN3 impairs glucose-stimulated insulin secretion and leads to a diabetic phenotype., [RefSeq, PubMed]; The SNPs in the region of HMGN3 gene formed a tightly combined haplotype block in both Chinese and Caucasians. The results suggest that the genomic region containing HMGN3 gene may be associated with spine BS in Chinese., [RefSeq, PubMed]; The protein encoded by this gene binds thyroid hormone receptor beta in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is a related pseudogene on chromosome 1. [provided by RefSeq, Jan 2016]., [RefSeq]; WTAP dysregulation-mediated HMGN3-m6A modification inhibited trophoblast invasion in early-onset 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": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RD37;Q5HYD3;Q7RTT0;Q969M5;Q9BZT7", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0046966 nuclear thyroid hormone receptor binding;GO:0031492 nucleosomal DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q15651-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16534-1", "uniprot_id": "HLF_HUMAN", "mass": 33199.0, "length": 295, "protein_name": "Hepatic leukemia factor", "gene_name": "HLF", "organism": "Human", "refseq_name": "hepatic leukemia factor isoform 2", "refseq_ac": "NP_001317304", "gene_names_uniprotkb": "HLF", "gene_names_refseq": "HLF", "protein_names_uniprotkb": "Hepatic leukemia factor", "protein_names_refseq": "E2A-HLF fusion transcript protein; HLF, PAR bZIP transcription factor; hepatic leukemia factor isoform 2; hepatic leukemia factor", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:3131)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;1386162;1516826;29557506;31848261;34991659;35051231;35580925;36374958;36958694;37709768;37712764;7556072", "class_list": "", "function": "CircCHD2/miR-200b-3p/HLF Axis Promotes Liver Cirrhosis., [RefSeq, PubMed]; HLF promotes ovarian cancer progression and chemoresistance via regulating Hippo signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; HLF regulates ferroptosis, development and chemoresistance of triple-negative breast cancer by activating tumor cell-macrophage crosstalk. Publication Status: Online-Only, [RefSeq, PubMed]; M6A RNA methylation-mediated upregulation of HLF promotes intrahepatic cholangiocarcinoma progression by regulating the FZD4/beta-catenin signaling pathway., [RefSeq, PubMed]; Tensin 1 regulated by hepatic leukemia factor represses the progression of prostate cancer., [RefSeq, PubMed]; The authors characterize variants of rat HLF, including use of two alternative promoters and a non-AUG translation initiation site that has not been confirmed in human., [RefSeq, PubMed]; This gene encodes a member of the proline and acidic-rich (PAR) protein family, a subset of the bZIP transcription factors. The encoded protein forms homodimers or heterodimers with other PAR family members and binds sequence-specific promoter elements to activate transcription. Chromosomal translocations fusing portions of this gene with the E2A gene cause a subset of childhood B-lineage acute lymphoid leukemias. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K1X8;Q6FHS9", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003690 double-stranded DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048511 rhythmic process", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q16534-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q2TB90-1", "uniprot_id": "HKDC1_HUMAN", "mass": 102545.0, "length": 917, "protein_name": "Hexokinase HKDC1", "gene_name": "HKDC1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "HKDC1", "gene_names_refseq": "", "protein_names_uniprotkb": "Hexokinase HKDC1; 2.7.1.1; Hexokinase domain-containing protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "maturity-onset diabetes of the young (Disease Ontology:DOID:0050524); retinitis pigmentosa 92 (Disease Ontology:DOID:0061107); neonatal diabetes mellitus (Disease Ontology:DOID:11717); hyperinsulinemic hypoglycemia (Disease Ontology:DOID:13317); glucose metabolism disease (Disease Ontology:DOID:4194); hyperglycemia (Disease Ontology:DOID:4195)", "pathway": " (hsa:80201); (R-HSA-70171)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10714828;11371164;11506403;11780755;12616532;1278465;12965206;13538944;15710582;16511037;17804405;183598;18452278;1871135;18910716;18910717;18927083;22219026;23168256;23446454;2462567;25645385;25648650;26853435;27459389;2793178;2846554;28904123;29401404;29493099;29557506;2960695;30085091;30517626;30833945;31530632;3170585;31844290;3208766;32157095;32938616;33298915;3355497;33912179;33968037;33981976;34087483;34171305;3453121;34782236;35051231;3529090;35580925;39894887;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7717389;7825568;7989588;8117307;8325892;8447317;8786021;9438414;9493266", "class_list": "", "function": "Catalyzes the phosphorylation of hexose to hexose 6-phosphate, although at very low level compared to other hexokinases (PubMed:30517626). Has low glucose phosphorylating activity compared to other hexokinases (PubMed:30517626). Involved in glucose homeostasis and hepatic lipid accumulation. Required to maintain whole-body glucose homeostasis during pregnancy; however additional evidences are required to confirm this role (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "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": "B5MDN9;Q2TB91;Q5VTC7;Q7Z373;Q8WU37;Q96EH2;Q9H5Y9", "ec_number_list": "2.7.1.1;2.7.1.-", "go_molecular_function": "GO:0004340 glucokinase activity;GO:0008865 fructokinase activity;GO:0005524 ATP binding;GO:0005536 D-glucose binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0031966 mitochondrial membrane;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0006006 glucose metabolic process;GO:0001678 intracellular glucose homeostasis;GO:0006096 glycolytic process;GO:0051156 glucose 6-phosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q2TB90-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4VC39-1", "uniprot_id": "HIG2B_HUMAN", "mass": 11405.0, "length": 106, "protein_name": "HIG1 domain family member 2B", "gene_name": "HIGD2B", "organism": "Human", "refseq_name": "HIG1 domain family member 2B", "refseq_ac": "NP_001337861", "gene_names_uniprotkb": "HIGD2B; HIGD2BP", "gene_names_refseq": "HIGD2BP; HIGD2B", "protein_names_uniprotkb": "HIG1 domain family member 2B", "protein_names_refseq": "HIG1 domain family member 2B; HIG1 hypoxia inducible domain family, member 2B (pseudogene); putative HIG1 domain family member 2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:123346)", "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:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "GO:0097250 mitochondrial respirasome assembly", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q4VC39-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q58FG1-1", "uniprot_id": "HS904_HUMAN", "mass": 47712.0, "length": 418, "protein_name": "Putative heat shock protein HSP 90-alpha A4", "gene_name": "HSP90AA4P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "HSP90AA4P; HSP90AD; HSPCAL2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative heat shock protein HSP 90-alpha A4; Heat shock 90 kDa protein 1 alpha-like 2; Heat shock protein 90-alpha D; Heat shock protein 90Ad", "protein_names_refseq": "", "tax_id": 9606, "disease": "withdrawal disorder (Disease Ontology:DOID:0060001); traumatic brain injury (Disease Ontology:DOID:0081292); portal hypertension (Disease Ontology:DOID:10762); varicocele (Disease Ontology:DOID:12337); cancer (Disease Ontology:DOID:162); pulmonary fibrosis (Disease Ontology:DOID:3770); rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "16269234;26154972;28218747;29242379;29493099;29557506;32502341;33968037;35051231;35254053;40914422", "class_list": "", "function": "Putative molecular chaperone that may promote the maturation, structural maintenance and proper regulation of specific target proteins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0140662 ATP-dependent protein folding chaperone", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q58FG1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZV7-1", "uniprot_id": "HPLN2_HUMAN", "mass": 37775.0, "length": 340, "protein_name": "Hyaluronan and proteoglycan link protein 2", "gene_name": "HAPLN2", "organism": "Human", "refseq_name": "hyaluronan and proteoglycan link protein 2 precursor", "refseq_ac": "NP_068589", "gene_names_uniprotkb": "HAPLN2; BRAL1", "gene_names_refseq": "BRAL1; HAPLN2", "protein_names_uniprotkb": "Hyaluronan and proteoglycan link protein 2; Brain link protein 1", "protein_names_refseq": "brain link protein-1; hyaluronan and proteoglycan link protein 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:60484)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11027579;11237011;11873941;19034380;19633295;20950796;24715725;29393594", "class_list": "glycogene", "function": "Gene locus at chromosome 1q21-23., [RefSeq, PubMed]; Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan-associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid (By similarity)., [UniProtKB, UniProtKB]; Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results indicate that HAPLN4 and HAPLN2 are the predominant members of this family in the adult human brain but are strongly reduced in the tumor parenchyma., [RefSeq, PubMed]; This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 442, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T3J0", "ec_number_list": "", "go_molecular_function": "GO:0005540 hyaluronic acid binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0045202 synapse;GO:0033268 node of Ranvier;GO:0072534 perineuronal net", "go_biological_process": "GO:0007155 cell adhesion;GO:0007417 central nervous system development;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9GZV7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TA89-1", "uniprot_id": "HES5_HUMAN", "mass": 18226.0, "length": 166, "protein_name": "Transcription factor HES-5", "gene_name": "HES5", "organism": "Human", "refseq_name": "transcription factor HES-5", "refseq_ac": "NP_001010926", "gene_names_uniprotkb": "HES5; BHLHB38", "gene_names_refseq": "HES5; bHLHb38", "protein_names_uniprotkb": "Transcription factor HES-5; Class B basic helix-loop-helix protein 38; Hairy and enhancer of split 5; bHLHb38", "protein_names_refseq": "class B basic helix-loop-helix protein 38; hairy and enhancer of split 5; transcription factor HES-5", "tax_id": 9606, "disease": "diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:388585); (R-HSA-2122947); (R-HSA-2197563); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-9013508); (R-HSA-9013695)", "pathway_count": 7, "publication_count": 86, "publication_id_list": "10206645;10713164;10879540;10882063;10964718;11006133;11044625;11101851;11461910;11585921;11740940;11866432;11986231;12050117;12209127;12354787;12386158;12391150;12530964;14672936;14980219;15107403;15254753;15531924;15546612;15574878;15760269;15824097;15829515;16093323;16256737;16530044;16738328;17003037;17072841;17093926;17114293;17284587;17388915;17401372;17646408;17646409;18043734;18077452;18094723;18239137;18296446;18374649;18491316;18724371;18824583;18824585;18974129;19151708;19524514;19726682;20804727;20972443;22396495;25417103;26387946;26801977;27749937;27841855;27878283;29146722;29557506;30429286;32055024;33496006;34185709;35051231;37254738;7566092;7588063;8001118;8649374;8687460;9244301;9315665;9462510;9604939;9620803;9651681;9694793;9819428", "class_list": "", "function": "Expression significantly higher in squamous cervical carcinoma than in CIN as well as higher in CIN than normal cervical epithelia, [RefSeq, PubMed]; HES5 might contribute to the proliferation of non-small cell lung cancer by STAT3 signaling., [RefSeq, PubMed]; Human HES5 gene is coupled to the Notch receptor family and expression of Notch markers (including HES5) decreases during cartilage differentiation., [RefSeq, PubMed]; NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis., [RefSeq, PubMed]; Notch3/Hes5 Induces Vascular Dysfunction in Hypoxia-Induced Pulmonary Hypertension Through ER Stress and Redox-Sensitive Pathways., [RefSeq, PubMed]; Repression of FBXW7 by HES5 contributes to inactivation of the TGF-beta signaling pathway and alleviation of endometriosis., [RefSeq, PubMed]; The HLH gene HES5 on the other hand was only detected in chondrocytes., [RefSeq, PubMed]; This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]., [RefSeq]; Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B9DI85", "ec_number_list": "", "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0021781 glial cell fate commitment;GO:0072086 specification of loop of Henle identity;GO:2000981 negative regulation of inner ear receptor cell differentiation;GO:0048708 astrocyte differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q5TA89-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6MZM0-1", "uniprot_id": "HPHL1_HUMAN", "mass": 131603.0, "length": 1159, "protein_name": "Ferroxidase HEPHL1", "gene_name": "HEPHL1", "organism": "Human", "refseq_name": "ferroxidase HEPHL1 precursor", "refseq_ac": "NP_001092142", "gene_names_uniprotkb": "HEPHL1", "gene_names_refseq": "HEPHL1; HJDD; ZP", "protein_names_uniprotkb": "Ferroxidase HEPHL1; 1.16.3.1; Hephaestin-like protein 1", "protein_names_refseq": "ferroxidase HEPHL1 precursor; ferroxidase HEPHL1; hephaestin-like protein 1; zyklopen", "tax_id": 9606, "disease": "pili torti-developmental delay-neurological abnormalities syndrome (MONDO:MONDO:0009871)", "pathway": " (hsa:341208)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "27862975;29557506;31125343;32502341;33392160;33592498", "class_list": "", "function": "Is a copper-binding glycoprotein with ferroxidase activity. It oxidizes Fe(2+) to Fe(3+) without releasing radical oxygen species (PubMed:31125343). May be involved in the regulation of intracellular iron content (PubMed:31125343)., [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": 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": 54, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q3C1W7", "ec_number_list": "1.11.1.27;1.16.3.1;1.11.1.9;1.16.3.4", "go_molecular_function": "GO:0005507 copper ion binding;GO:0004322 ferroxidase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0006825 copper ion transport", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6MZM0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NVY1-1", "uniprot_id": "HIBCH_HUMAN", "mass": 43482.0, "length": 386, "protein_name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial", "gene_name": "HIBCH", "organism": "Human", "refseq_name": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1 precursor", "refseq_ac": "NP_055177", "gene_names_uniprotkb": "HIBCH", "gene_names_refseq": "HIBCH; HIBYLCOAH", "protein_names_uniprotkb": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; 3-hydroxyisobutyryl-coenzyme A hydrolase; 3.1.2.4; HIB-CoA hydrolase; HIBYL-CoA-H", "protein_names_refseq": "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial isoform 1 precursor; 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; 3-hydroxyisobutyryl-Coenzyme A hydrolase; HIB-CoA hydrolase; HIBYL-CoA-H; testicular tissue protein Li 86", "tax_id": 9606, "disease": "3-hydroxyisobutryl-CoA hydrolase deficiency (Disease Ontology:DOID:0060949); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:26275); (R-HSA-70895); (R-HSA-9916722)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10832746;10947204;11013134;11181649;11237011;11264579;11406611;11738050;12269802;12359132;12434311;12696021;13416257;14752098;15166214;1527093;15342248;15576032;16023992;16141215;17160907;17371050;19608861;22291014;22956686;23186163;23481700;23485643;24299452;24449431;24715725;25251209;25418920;26163321;26251176;26992070;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29557506;29632046;30315122;30524438;3082934;31435015;31844290;32022391;32157095;32350084;32357974;32677093;32897882;33141586;33298915;33592498;33912179;33936100;34357683;35051231;35318648;3597357;36010968;39113043;6928646;7356336;8824301;9165094;9214289;9889013", "class_list": "", "function": "Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene., [RefSeq, PubMed]; Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Molecular analysis in both patients uncovered mutations in the HIBCH gene, including one missense mutation in a conserved part of the protein and two mutations affecting splicing., [RefSeq, PubMed]; This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]., [RefSeq]; Two genetic variants in the HIBCH and FTCDNL1 genes are associated with susceptibility to developmental dysplasia of the hips among the Han Chinese population of Southwest China. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "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": "D3DPI4;Q53GA8;Q53GF2;Q53RF7;Q53TC6;Q92931;Q9BS94", "ec_number_list": "3.1.2.4", "go_molecular_function": "GO:0003860 3-hydroxyisobutyryl-CoA hydrolase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0009083 branched-chain amino acid catabolic process;GO:0006574 L-valine catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q6NVY1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UXD1-1", "uniprot_id": "HRCT1_HUMAN", "mass": 13183.0, "length": 115, "protein_name": "Histidine-rich carboxyl terminus protein 1", "gene_name": "HRCT1", "organism": "Human", "refseq_name": "histidine-rich carboxyl terminus protein 1", "refseq_ac": "NP_001034881", "gene_names_uniprotkb": "HRCT1; PRO537", "gene_names_refseq": "HRCT1; LGLL338; PRO537; UNQ338", "protein_names_uniprotkb": "Histidine-rich carboxyl terminus protein 1", "protein_names_refseq": "histidine-rich carboxyl terminus protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:646962)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "12975309;36602696", "class_list": "", "function": "HRCT1, negatively regulated by miR-124-3p, promotes tumor metastasis and the growth of gastric cancer by activating the ERBB2-MAPK pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7ZBJ1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6UXD1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6WQI6-1", "uniprot_id": "HEPN1_HUMAN", "mass": 10305.0, "length": 88, "protein_name": "Protein HEPN1", "gene_name": "HEPN1", "organism": "Human", "refseq_name": "protein HEPN1", "refseq_ac": "NP_001032647", "gene_names_uniprotkb": "HEPN1", "gene_names_refseq": "HEPN1", "protein_names_uniprotkb": "Protein HEPN1; Cancer susceptibility gene HEPN1 protein", "protein_names_refseq": "HEPACAM opposite strand 1; cancer susceptibility gene HEPN1 protein; cancer susceptibility gene HEPN1; protein HEPN1", "tax_id": 9606, "disease": "", "pathway": " (hsa:641654)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12971969;25448679;25687183;35051231", "class_list": "", "function": "ROS increase production of an alternately spliced form of X-box binding protein 1 (XBP1s) and XBP1s increases HEPN1 expression by binding to the HEPN1 promoter, [RefSeq, PubMed]; The current study suggested an underlying mechanism that miR-21 directly target HEPN1 and inhibit its expression during the carcinogenesis of HCC. HEPN1 may thus be a candidate as a therapeutic target for patients with HCC., [RefSeq, PubMed]; This gene is expressed predominantly in the liver. Transient transfection studies show the expression of this gene significantly inhibits cell growth, suggesting a role for this gene in apoptosis. Expression of this gene is down-regulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). This gene maps to the 3'-noncoding region of the HEPACAM gene (GeneID:220296) on the antisense strand. [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6WQI6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86UW8-1", "uniprot_id": "HPLN4_HUMAN", "mass": 42801.0, "length": 402, "protein_name": "Hyaluronan and proteoglycan link protein 4", "gene_name": "HAPLN4", "organism": "Human", "refseq_name": "hyaluronan and proteoglycan link protein 4 precursor", "refseq_ac": "NP_075378", "gene_names_uniprotkb": "HAPLN4; BRAL2; KIAA1926", "gene_names_refseq": "BRAL2; HAPLN4", "protein_names_uniprotkb": "Hyaluronan and proteoglycan link protein 4; Brain link protein 2", "protein_names_refseq": "brain link protein 2; hyaluronan and proteoglycan link protein 4 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:404037)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "12663660;14550776;19633295;20950796;28834231;32938616", "class_list": "glycogene", "function": "Essential for the proper localization of brevican (BCAN), mainly as a perineuronal nets (PNNs)-type deposition in the brainstem and cerebellum thereby playing a key role in the formation and structural organization of PNNs (By similarity). Contributes to the formation and transmission of inhibitory GABAergic synapses between Purkinje cells and deep cerebellar nuclei neurons (By similarity)., [UniProtKB, UniProtKB]; Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results indicate that HAPLN4 and HAPLN2 are the predominant members of this family in the adult human brain but are strongly reduced in the tumor parenchyma., [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": 586, "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": "A5PKW5;Q96PW2", "ec_number_list": "", "go_molecular_function": "GO:0005540 hyaluronic acid binding;GO:0150043 structural constituent of synapse-associated extracellular matrix", "go_cellular_component": "GO:0005615 extracellular space;GO:0045202 synapse;GO:0072534 perineuronal net", "go_biological_process": "GO:0007155 cell adhesion;GO:0007417 central nervous system development;GO:0001501 skeletal system development;GO:0051932 synaptic transmission, GABAergic;GO:1904862 inhibitory synapse assembly", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q86UW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86X24-1", "uniprot_id": "HORM1_HUMAN", "mass": 45200.0, "length": 394, "protein_name": "HORMA domain-containing protein 1", "gene_name": "HORMAD1", "organism": "Human", "refseq_name": "HORMA domain-containing protein 1 isoform 2", "refseq_ac": "NP_001186758", "gene_names_uniprotkb": "HORMAD1; NOHMA", "gene_names_refseq": "CT46; HORMAD1; NOHMA", "protein_names_uniprotkb": "HORMA domain-containing protein 1; CT46; Cancer/testis antigen 46; Newborn ovary HORMA protein", "protein_names_refseq": "HORMA domain-containing protein 1 isoform 2; HORMA domain-containing protein 1; cancer/testis antigen 46; newborn ovary HORMA protein; testis tissue sperm-binding protein Li 86P", "tax_id": 9606, "disease": "", "pathway": " (hsa:84072)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11230166;11237011;15567723;15999985;22346761;22407170;22776561;26992070;30484775;32938616;36215666;37371097;37794593;37838177;38185961", "class_list": "", "function": "Ectopically Expressed Meiosis-Specific Cancer Testis Antigen HORMAD1 Promotes Genomic Instability in Squamous Cell Carcinomas. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of HORMAD1 in Chronic Rhinosinusitis and Its Correlation with Inflammatory Factors., [RefSeq, PubMed]; HORMAD1 gene silencing resulted in significantly reduced VEGF protein levels and microvessel density compared to controls in epithelial ovarian carcinoma. Review article, [RefSeq, PubMed]; Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structural and biochemical insights into the interaction mechanism underlying HORMAD1 and its partner proteins., [RefSeq, PubMed]; The cancer testes antigen, HORMAD1, limits genomic instability in cancer cells by protecting stalled replication forks., [RefSeq, PubMed]; This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; This is the first report showing that HORMAD1 single-nucleotide polymorphisms (SNPs) may predispose men to a defect in spermatogenesis, although the causal and potential mechanistic relationships between these HORMAD1 SNPs and azoospermia remain unclear., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NMK2;B3KUK1;Q4G114;Q5T5I3;Q5T5I4;Q5T5I5;Q6FIC1;Q9H0K8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome;GO:0000795 synaptonemal complex", "go_biological_process": "GO:0051598 meiotic recombination checkpoint signaling;GO:0060629 regulation of homologous chromosome segregation;GO:0007283 spermatogenesis;GO:0007130 synaptonemal complex assembly;GO:0048477 oogenesis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q86X24-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86XE5-1", "uniprot_id": "HOGA1_HUMAN", "mass": 35249.0, "length": 327, "protein_name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial", "gene_name": "HOGA1", "organism": "Human", "refseq_name": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial isoform 2", "refseq_ac": "NP_001128142", "gene_names_uniprotkb": "HOGA1; C10orf65; DHDPSL", "gene_names_refseq": "C10orf65; DHDPS2; DHDPSL; HOGA1; HP3; NPL2", "protein_names_uniprotkb": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial; 4.1.3.16; DHDPS-like protein; Dihydrodipicolinate synthase-like; Probable 2-keto-4-hydroxyglutarate aldolase; Probable KHG-aldolase; Protein 569272", "protein_names_refseq": "4-hydroxy-2-oxoglutarate aldolase, mitochondrial isoform 2; DHDPS-like protein; N-acetylneuraminate pyruvate lyase 2 (putative); dihydrodipicolinate synthase-like, mitochondrial; dihydrodipicolinate synthetase homolog 2; probable 2-keto-4-hydroxyglutarate aldolase; probable 4-hydroxy-2-oxoglutarate aldolase, mitochondrial; probable KHG-aldolase; protein 569272", "tax_id": 9606, "disease": "primary hyperoxaluria type 3 (Disease Ontology:DOID:0111672); primary hyperoxaluria (Disease Ontology:DOID:2977)", "pathway": " (hsa:112817); (R-HSA-389661)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10484776;10524214;10777549;10978532;11237011;12865426;12899834;13681368;13681370;14170323;15340920;15802217;1601857;16616139;1703535;17088322;17669354;18215067;19352492;20018850;20603179;20797690;20877624;2158891;21896830;21998747;22516612;2363689;25697095;25747990;26858947;29557506;30379171;33592498;3416563;34995728;35051231;36259736;36928260;37318624;38253038;500817;6250440;9163533;9820813", "class_list": "", "function": "Catalyzes the final step in the metabolic pathway of hydroxyproline., [UniProtKB, PubMed, PubMed]; DHDPSL is the gene encoding 4-hydroxy-2-oxoglutarate aldolase, catalyzing the final step in the metabolic pathway of hydroxyproline., [RefSeq, PubMed]; Detection of HOGA1 variants in idiopathic calcium oxalate urolithiasis also suggests HOGA1 may be a predisposing factor for this condition, [RefSeq, PubMed]; Extended genetic analysis of exome sequencing for primary hyperoxaluria in pediatric urolithiasis patients with hyperoxaluria., [RefSeq, PubMed]; HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association. Review article, [RefSeq, PubMed]; HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships., [RefSeq, PubMed]; Kidney cysts in patients with HOGA1 variants., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 9, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K075;Q5T680;Q5T684;Q711P0;Q8N9F2;Q96EV5", "ec_number_list": "4.1.3.16", "go_molecular_function": "GO:0008700 (R,S)-4-hydroxy-2-oxoglutarate aldolase activity;GO:0042803 protein homodimerization activity;GO:0106009 (4S)-4-hydroxy-2-oxoglutarate aldolase activity;GO:0016833 oxo-acid-lyase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0033609 oxalate metabolic process;GO:0042866 pyruvate biosynthetic process;GO:0019470 trans-4-hydroxy-L-proline catabolic process;GO:0046487 glyoxylate metabolic process;GO:0009436 glyoxylate catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q86XE5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IWW8-1", "uniprot_id": "HOT_HUMAN", "mass": 50308.0, "length": 467, "protein_name": "Hydroxyacid-oxoacid transhydrogenase, mitochondrial", "gene_name": "ADHFE1", "organism": "Human", "refseq_name": "hydroxyacid-oxoacid transhydrogenase, mitochondrial", "refseq_ac": "NP_653251", "gene_names_uniprotkb": "ADHFE1; HMFT2263", "gene_names_refseq": "ADH8; ADHFE1; HMFT2263; HOT", "protein_names_uniprotkb": "Hydroxyacid-oxoacid transhydrogenase, mitochondrial; 1.1.99.24; ADHFe1; Alcohol dehydrogenase iron-containing protein 1; Fe-containing alcohol dehydrogenase; HOT", "protein_names_refseq": "Fe-containing alcohol dehydrogenase 1; alcohol dehydrogenase 8; alcohol dehydrogenase iron-containing protein 1; hydroxyacid-oxoacid transhydrogenase, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:137872); (R-HSA-880009)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "11237011;12592711;15070399;15221005;15385440;15548604;16005139;16435184;16959974;24886599;28228285;29202474;31154438;3182820;32317010;33968037;35051231;37270460;7564244", "class_list": "", "function": "Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities., [UniProtKB, PubMed]; Cloned and characterized an iron-activated alcohol dehydrogenase gene, Fe-containing alcohol dehydrogenase 1 (ADHFe1), [RefSeq, PubMed]; Combined detection of SDC2/ADHFE1/PPP2R5C methylation in stool DNA for colorectal cancer screening., [RefSeq, PubMed]; Data support the hypothesis that ADHFE1 and MYC signaling contribute to D-2HG accumulation in breast tumors and show that D-2HG is an oncogenic metabolite and potential driver of disease progression., [RefSeq, PubMed]; Genome-wide DNA methylation profiles of low- and high-grade adenoma reveals potential biomarkers for early detection of colorectal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]., [RefSeq]; These results demonstrate that the promoter hypermethylation of ADHFE1 is frequently present in CRC and alcohol induces methylation-mediated down expression of ADHFE1 and proliferation of CRC cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B4DTJ8;Q49A19;Q68CI7;Q6P2B6;Q96MF9", "ec_number_list": "1.1.99.24", "go_molecular_function": "GO:0047988 hydroxyacid-oxoacid transhydrogenase activity;GO:0004022 alcohol dehydrogenase (NAD+) activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006103 2-oxoglutarate metabolic process;GO:0046952 ketone body catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8IWW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IX15-1", "uniprot_id": "HOMEZ_HUMAN", "mass": 61240.0, "length": 550, "protein_name": "Homeobox and leucine zipper protein Homez", "gene_name": "HOMEZ", "organism": "Human", "refseq_name": "homeobox and leucine zipper protein Homez", "refseq_ac": "NP_065885", "gene_names_uniprotkb": "HOMEZ; KIAA1443", "gene_names_refseq": "HOMEZ; KIAA1443", "protein_names_uniprotkb": "Homeobox and leucine zipper protein Homez; Homeodomain leucine zipper-containing factor", "protein_names_refseq": "homeobox and leucine zipper protein Homez; homeodomain leucine zipper-containing factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:57594)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12925734;15302935;19690332;20068231;20422016;23186163;23574532;25418920;25772364;26992070;28832583;29393594;29557506;29632046;30315122;31217245;31844290;32938616;34185709;35051231", "class_list": "", "function": "May function as a transcriptional regulator., [UniProtKB, UniProtKB, UniProtKB]; No single gene of major effect could be convincingly identified in a sample of Indian CHD cases born to consanguineous parents. The possibility that noncoding regions of HOMEZ may harbor recessive mutations leading to CHD could not be excluded. Publication Status: Online-Only, [RefSeq, PubMed]; Study identified two novel heterozygous missense mutations in HOMEZ gene exon-2 in isolated VSD patients in the Chinese population and have found that these two mutations resulted in alteration of the hydropathicity of the HOMEZ protein, [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": 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": "A1L445;B4DZ80;F8WCA3;Q6P049;Q86XB6;Q9P2A5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8IX15-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZT8-1", "uniprot_id": "HS3S5_HUMAN", "mass": 40408.0, "length": 346, "protein_name": "Heparan sulfate glucosamine 3-O-sulfotransferase 5", "gene_name": "HS3ST5", "organism": "Human", "refseq_name": "heparan sulfate glucosamine 3-O-sulfotransferase 5", "refseq_ac": "NP_705840", "gene_names_uniprotkb": "HS3ST5; 3OST5; HS3OST5", "gene_names_refseq": "3-OST-5; 3OST5; HS3OST5; HS3ST5; NBLA04021", "protein_names_uniprotkb": "Heparan sulfate glucosamine 3-O-sulfotransferase 5; 2.8.2.23; 3-OST-5; Heparan sulfate 3-O-sulfotransferase 5; Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5; h3-OST-5", "protein_names_refseq": "h3-OST-5; heparan sulfate (glucosamine) 3-O-sulfotransferase 5; heparan sulfate 3-O-sulfotransferase 5; heparan sulfate 3-OST-5; heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5; heparan sulfate glucosamine 3-O-sulfotransferase 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:222537); (R-HSA-2022928)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10318803;10639137;10644753;10677367;10716625;11087757;11169766;11274177;11279150;11390981;12138164;12492399;12740361;15026143;15082721;15607426;16099108;16343444;18223645;18978678;20554947;21700882;28132690;28148688;30471091;33159882;34185709;35051231;35676258;7601448;9346953;9463333;9535912;9915799;9988767", "class_list": "glycogene", "function": "HS3ST5 belongs to a group of heparan sulfate 3-O-sulfotransferases (EC 2.8.2.23) that transfer sulfate from 3-prime-phosphoadenosine 5-prime phosphosulfate (PAPS) to heparan sulfate and heparin (Mochizuki et al., 2003 [PubMed 12740361]).[supplied by OMIM, Mar 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Recombinant 3-OST-5 only exhibited sulfotransferase activity toward heparan sulfate and heparin. 3-OST-5 was highly expressed in fetal brain, followed by adult brain and spinal cord, and at very low or undetectable levels in other tissues., [RefSeq, PubMed]; Results demonstrate that the human 3-O-sulfotransferase isoform 5 gene is capable of synthesizing anticoagulant heparan sulfate (HS) in CHO cells and may contribute to the biosynthesis of HS in humans., [RefSeq, PubMed]; Structural analysis of 3-OST-5 HS(act) revealed that the antithrombin-binding site of 3-OST-5 HS(act) is located within a domain clustered with N-sulfated glucosamine units., [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. Also generates GlcUA-GlcNS or IdoUA-GlcNS and IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 400, "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": "A8K1J2;Q52LI2;Q8N285", "ec_number_list": "2.8.2.23;2.8.2.-;2.8.2.29;2.8.2.30", "go_molecular_function": "GO:0050656 3'-phosphoadenosine 5'-phosphosulfate binding;GO:0008467 [heparan sulfate]-glucosamine 3-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0046596 regulation of viral entry into host cell;GO:0006477 protein sulfation;GO:0050819 negative regulation of coagulation;GO:0015012 heparan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8IZT8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NDA2-5", "uniprot_id": "HMCN2_HUMAN", "mass": 544006.0, "length": 5079, "protein_name": "Hemicentin-2", "gene_name": "HMCN2", "organism": "Human", "refseq_name": "hemicentin-2 precursor", "refseq_ac": "NP_001278744", "gene_names_uniprotkb": "HMCN2", "gene_names_refseq": "HMCN2", "protein_names_uniprotkb": "Hemicentin-2", "protein_names_refseq": "hemicentin-2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:256158)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "23481700;25418920;25645385;37074911;38253038", "class_list": "", "function": "", "predicted_glycosites": 44, "predicted_n_glycosites": 39, "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": 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": 129, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 0, "glyco_site_count": 45, "binding_glycan_count": 0, "secondary_ac_list": "A0A096LP30;A0A804HLC3;Q8N225;Q8TCI8", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0008046 axon guidance receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0030054 cell junction;GO:0030424 axon", "go_biological_process": "GO:0050808 synapse organization;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8NDA2-5", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96IR7-1", "uniprot_id": "HPDL_HUMAN", "mass": 39386.0, "length": 371, "protein_name": "4-hydroxyphenylpyruvate dioxygenase-like protein", "gene_name": "HPDL", "organism": "Human", "refseq_name": "4-hydroxyphenylpyruvate dioxygenase-like protein", "refseq_ac": "NP_116145", "gene_names_uniprotkb": "HPDL; GLOXD1", "gene_names_refseq": "4-HPPD-L; GLOXD1; HPDL; NEDSWMA; SPG83", "protein_names_uniprotkb": "4-hydroxyphenylpyruvate dioxygenase-like protein; 1.13.11.46; Glyoxalase domain-containing protein 1; HPD-like protein; HPDL", "protein_names_refseq": "4-hydroxyphenylpyruvate dioxygenase-like protein; HPD-like protein; glyoxalase domain-containing protein 1", "tax_id": 9606, "disease": "hereditary spastic paraplegia 83 (Disease Ontology:DOID:0112346); neurodegenerative disease (Disease Ontology:DOID:1289); neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (MONDO:MONDO:0033613)", "pathway": " (hsa:84842); (R-HSA-2142789)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10501970;10777520;12721307;15153069;16262699;16624818;17374725;17916383;20068231;21540551;21944752;23354120;24270420;25152161;25339443;25505266;25892735;27155576;27499296;28510447;28514659;29393594;29557506;29769354;31217245;31844290;32707086;33188300;33634263;33912179;33970200;34471290;34515336;34561969;35051231;35985664;36306796;36658222;38253038;38286980;38425362;40596516;8621692;9083049", "class_list": "", "function": "A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review. Review article, [RefSeq, PubMed]; Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Erratum:[Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193. PMID: 34480796], [RefSeq, PubMed]; Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition., [RefSeq, PubMed]; HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders., [RefSeq, PubMed]; Iron-dependent dioxygenase that catalyzes the conversion of 4-hydroxyphenylpyruvate (4-HPPA) to 4-hydroxymandelate (4-HMA) in the mitochondria, one of the steps in the biosynthesis of coenzyme Q10 from tyrosine., [UniProtKB, PubMed]; Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient., [RefSeq, PubMed]; The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in this gene that lower the level of the encoded protein and lead to a clinically variable form of pediatric-onset spastic movement disorder. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R9B0", "ec_number_list": "1.13.11.46", "go_molecular_function": "GO:0003868 4-hydroxyphenylpyruvate dioxygenase activity;GO:0046872 metal ion binding;GO:0050585 4-hydroxymandelate synthase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0009072 aromatic amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96IR7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96RW7-1", "uniprot_id": "HMCN1_HUMAN", "mass": 613390.0, "length": 5635, "protein_name": "Hemicentin-1", "gene_name": "HMCN1", "organism": "Human", "refseq_name": "hemicentin-1 precursor", "refseq_ac": "NP_114141", "gene_names_uniprotkb": "HMCN1; FIBL6", "gene_names_refseq": "ARMD1; FBLN6; FIBL-6; FIBL6; HMCN1", "protein_names_uniprotkb": "Hemicentin-1; FIBL-6; Fibulin-6", "protein_names_refseq": "LOC100507250/HMCN1 fusion; fibulin-6; hemicentin-1 precursor", "tax_id": 9606, "disease": "age related macular degeneration 1 (Disease Ontology:DOID:0110014); age related macular degeneration (Disease Ontology:DOID:10871)", "pathway": " (hsa:83872)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14570714;15370542;19664995;23090970;23481700;24190977;24715725;25645385;26992070;27543614;27600516;27726376;28411811;29393594;29488390;29500156;29557506;29632711;29741879;29786170;30192525;30379171;30429286;30524438;31154438;31638245;31844290;32035013;32157095;32387766;32414224;32488085;32938616;33392160;33592498;33912179;33968037;34087483;34411563;34509645;35051231;35254053;35318648;35494241;35580925;35886066;36010968;37074911;37217939;38253038", "class_list": "", "function": "Comprehensive Analysis of HMCN1 Somatic Mutation in Clear Cell Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; HOXD9 aggravates the development of cervical cancer by transcriptionally activating HMCN1., [RefSeq, PubMed]; Identify HMCN1 as a new molecule involved in the dynamic changes of podocyte foot processes in glomerular disease., [RefSeq, PubMed]; In the group that combined individuals affected by isolated cleft lip and palate, tooth agenesis, supernumerary teeth, molar incisor hypomineralization, or dental caries, we found an association with rs622260 but not with the rs10798049 marker. We determined that allele C of rs622260 was overrepresented in all individuals studied compared with a group of unrelated individuals who did not present any of these conditions., [RefSeq, PubMed]; Involved in transforming growth factor beta-mediated rearrangement of the podocyte cytoskeleton which includes reduction of F-actin fibers and broadening, flattening and elongation of podocytes (PubMed:29488390). Plays a role in basement membrane organization (By similarity). May promote cleavage furrow maturation during cytokinesis in preimplantation embryos (By similarity). May play a role in the architecture of adhesive and flexible epithelial cell junctions (By similarity). May play a role during myocardial remodeling by imparting an effect on cardiac fibroblast migration (By similarity)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The findings of the present study suggest that targeting the Cancerassociated fibroblasts genes, SRPX and HMCN1, can inhibit ovarian cancer migration and invasion., [RefSeq, PubMed]; This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]., [RefSeq]; We mapped the ARMD1 gene. Identification of the genes involved in AMD will lead to a better understanding of this disease at the molecular level., [RefSeq, PubMed]", "predicted_glycosites": 22, "predicted_n_glycosites": 20, "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": 14, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 14, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 14, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 14, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 331, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 2, "glyco_site_count": 47, "binding_glycan_count": 0, "secondary_ac_list": "A6NGE3;Q5TYR7;Q96DN3;Q96DN8;Q96SC3", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005201 extracellular matrix structural constituent;GO:0098631 cell adhesion mediator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005938 cell cortex;GO:0031012 extracellular matrix", "go_biological_process": "GO:0051301 cell division;GO:0030036 actin cytoskeleton organization;GO:0007601 visual perception;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q96RW7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BU61-1", "uniprot_id": "NDUF3_HUMAN", "mass": 20350.0, "length": 184, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3", "gene_name": "NDUFAF3", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform a precursor", "refseq_ac": "NP_951032", "gene_names_uniprotkb": "NDUFAF3; C3orf60", "gene_names_refseq": "2P1; C3orf60; E3-3; MC1DN18; NDUFAF3", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3; NADH dehydrogenase (ubiquinone) complex I, assembly factor 3; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform a precursor; nuclear protein E3-3", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 18 (Disease Ontology:DOID:0112070)", "pathway": " (hsa:25915); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "11220739;12653254;17936786;19463981;19752196;20406883;20552642;20858599;20877624;21924235;23553477;24191001;25678554;26992070;27499296;27626371;27986404;28904123;29557506;31092671;31666358;31844290;31866046;32320651;32488085;33141586;33879611;33882309;33936100;33968037;34357683;34561969;35333655;35614220;36241641;37938771;38199007;9571201", "class_list": "", "function": "Describes a similar transcript in mouse., [RefSeq, PubMed]; Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I)., [UniProtKB, PubMed]; Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9BU61-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BVR0-1", "uniprot_id": "HRC23_HUMAN", "mass": 128943.0, "length": 1158, "protein_name": "Putative HERC2-like protein 3", "gene_name": "HERC2P3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "HERC2P3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative HERC2-like protein 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "29242379;29557506;30410026;31844290;32502341;32561536;33141586", "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:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9BVR0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BW72-1", "uniprot_id": "HIG2A_HUMAN", "mass": 11529.0, "length": 106, "protein_name": "HIG1 domain family member 2A, mitochondrial", "gene_name": "HIGD2A", "organism": "Human", "refseq_name": "HIG1 domain family member 2A, mitochondrial", "refseq_ac": "NP_620175", "gene_names_uniprotkb": "HIGD2A", "gene_names_refseq": "HIG2A; HIGD2A; RCF1b", "protein_names_uniprotkb": "HIG1 domain family member 2A, mitochondrial; RCF1 homolog B; RCF1b", "protein_names_refseq": "HIG1 domain family member 2A, mitochondrial; HIG1 domain family, member 2A; RCF1 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:192286); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "18491316;19503089;22342701;23125284;23260140;23345593;23746447;24029068;24403053;24714562;24715725;25576301;25645385;25926683;25959673;26154972;26321642;26375851;26728094;26992070;27600516;27693358;27846572;27862975;27893789;28082314;28199844;28228285;28330871;28832583;28834231;29154948;29242379;29493099;29508533;29557506;29632711;29786170;30192525;30315122;30429286;30524438;30833945;31092671;31154438;31217245;31536960;31611695;31844290;31848261;31937595;31998317;32085461;32157095;32161166;32317297;32375044;32488085;32502341;32897882;32983136;33392160;33633747;33717175;33936100;33968037;34171305;34357683;34561969;34932366;34969438;35008815;35051231;35580925;35750769;36010968;36241641;36284347;36581221;37938771;9843204", "class_list": "", "function": "Biosystem Analysis of the Hypoxia Inducible Domain Family Member 2A: Implications in Cancer Biology. Publication Status: Online-Only, [RefSeq, PubMed]; Dynamic Distribution of HIG2A between the Mitochondria and the Nucleus in Response to Hypoxia and Oxidative Stress. Publication Status: Online-Only, [RefSeq, PubMed]; HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV., [RefSeq, PubMed]; Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May be involved in cytochrome c oxidase activity. May play a role in the assembly of respiratory supercomplexes., [UniProtKB, PubMed]; The protein encoded by this gene is a subunit of the cytochrome c oxidase complex (complex IV), which is the terminal enzyme in the mitochondrial respiratory chain. The encoded protein is an inner mitochondrial membrane protein and is a functional ortholog of the yeast respiratory supercomplex factor 1 (Rcf1). In mouse, the orthologous protein enhances cell survival under conditions of hypoxia. [provided by RefSeq, Sep 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0022904 respiratory electron transport chain;GO:0097250 mitochondrial respirasome assembly", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9BW72-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYE0-1", "uniprot_id": "HES7_HUMAN", "mass": 24899.0, "length": 225, "protein_name": "Transcription factor HES-7", "gene_name": "HES7", "organism": "Human", "refseq_name": "transcription factor HES-7 isoform 1", "refseq_ac": "NP_001159439", "gene_names_uniprotkb": "HES7; BHLHB37", "gene_names_refseq": "HES7; SCDO4; bHLHb37; hHes7", "protein_names_uniprotkb": "Transcription factor HES-7; Class B basic helix-loop-helix protein 37; Hairy and enhancer of split 7; bHLH factor Hes7; bHLHb37; hHes7", "protein_names_refseq": "bHLH factor Hes7; class B basic helix-loop-helix protein 37; hairy and enhancer of split 7; transcription factor HES-7 isoform 1; transcription factor HES-7", "tax_id": 9606, "disease": "spondylocostal dysostosis (Disease Ontology:DOID:0050568); spondylocostal dysostosis 4 (Disease Ontology:DOID:0112364)", "pathway": " (hsa:84667); (R-HSA-9824272)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11237011;11260262;17081983;18775957;20087400;23481700;25928698;26154972;28178531;29557506;32502341;32943519;33141586;33592498;33912179;35051231", "class_list": "", "function": "An Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation Publication Status: Online-Only, [RefSeq, PubMed]; R25W missense mutation of HES7 is causative of Spondylocostal dysostosis., [RefSeq, PubMed]; Species-specific segmentation clock periods are due to differential biochemical reaction speeds., [RefSeq, PubMed]; This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]; Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "F8VPC9", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0046983 protein dimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0009952 anterior/posterior pattern specification;GO:0050767 regulation of neurogenesis;GO:0007498 mesoderm development", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9BYE0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYM8-1", "uniprot_id": "HOIL1_HUMAN", "mass": 57572.0, "length": 510, "protein_name": "RanBP-type and C3HC4-type zinc finger-containing protein 1", "gene_name": "RBCK1", "organism": "Human", "refseq_name": "ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform 1", "refseq_ac": "NP_006453", "gene_names_uniprotkb": "RBCK1; C20orf18; RNF54; UBCE7IP3; XAP3; XAP4", "gene_names_refseq": "C20orf18; HOIL-1; HOIL1; PBMEI; PGBM1; RBCK1; RBCK2; RNF54; UBCE7IP3; XAP3; XAP4; ZRANB4", "protein_names_uniprotkb": "RanBP-type and C3HC4-type zinc finger-containing protein 1; 2.3.2.31; HBV-associated factor 4; HOIL-1; Heme-oxidized IRP2 ubiquitin ligase 1; Hepatitis B virus X-associated protein 4; RING finger protein 54; RING-type E3 ubiquitin transferase HOIL-1; Ubiquitin-conjugating enzyme 7-interacting protein 3", "protein_names_refseq": "HBV-associated factor 4; RBCC protein interacting with PKC1; RING finger protein 54; RING-type E3 ubiquitin transferase HOIL-1; heme-oxidized IRP2 ubiquitin ligase 1; hepatitis B virus X-associated protein 4; ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform 1; ranBP-type and C3HC4-type zinc finger-containing protein 1; ubiquitin conjugating enzyme 7 interacting protein 3", "tax_id": 9606, "disease": "glycogen storage disease (Disease Ontology:DOID:2747); polyglucosan body myopathy 1 with or without immunodeficiency (MONDO:MONDO:0014389)", "pathway": " (hsa:10616); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-983168)", "pathway_count": 5, "publication_count": 175, "publication_id_list": "10521396;10837247;11062501;11098060;11181075;11237011;11350924;11427719;11577081;12167698;12629548;12646216;12709429;12721308;12887920;14716293;14734113;14759258;15024054;15224091;15224092;15258597;15571818;15833741;15870263;15951569;16260783;16282325;16595681;16603398;16682944;16829951;16829952;16849449;16953224;16954532;17006537;17314102;17449468;17702576;18178551;18662542;18711448;19028597;19136968;19278658;19289468;19352404;19416807;19452197;19489725;19851334;19874575;19910467;19940261;20005846;20185725;20219915;20304918;20385093;21235526;21408173;21455173;21455180;21455181;22179575;22297296;22430200;22435550;22517668;2261476;22848449;23104095;23186163;23313255;23481700;23708998;23746843;23798481;24098568;24246475;24323043;24714562;24715725;24726323;24726327;25418920;25565632;25576301;25892735;26154972;26344099;26375851;26728094;26811146;26900751;26929215;26997266;27307491;27458237;27545878;27552911;27572974;27591049;27920218;28063628;28218747;28446606;28481331;28506461;28832583;28904123;28920952;28920954;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29642005;29769354;29786170;30146158;30315122;30361438;30420664;30429286;30833945;30988283;31092671;31154438;31366726;31511692;31530632;31844290;31848261;32265295;32320653;32350084;32387766;32502341;32897882;32938616;32983136;33298915;33469115;33717175;33968037;33981976;34162724;34171305;34357683;34363755;34561969;34876703;34932366;35051231;35294289;35580925;35941131;36702106;37217939;37976837;38214606;38632277;38763208;7531702;7667287;9049422;9065443;9195957;9380723;9668046", "class_list": "", "function": "E3 ubiquitin ligase RBCK1 confers ferroptosis resistance in pancreatic cancer by facilitating MFN2 degradation., [RefSeq, PubMed]; E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, such as UBE2L3/UBCM4, and then transfers it to substrates (PubMed:12629548, PubMed:17449468, PubMed:18711448). Functions as an E3 ligase for oxidized IREB2 and both heme and oxygen are necessary for IREB2 ubiquitination (PubMed:12629548). Promotes ubiquitination of TAB2 and IRF3 and their degradation by the proteasome (PubMed:17449468, PubMed:18711448). Component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation (PubMed:17006537, PubMed:19136968, PubMed:21455173, PubMed:21455180, PubMed:21455181). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways (PubMed:17006537, PubMed:19136968, PubMed:21455173, PubMed:21455180, PubMed:21455181). Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation (PubMed:17006537, PubMed:21455173, PubMed:21455180, PubMed:21455181). LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex (PubMed:17006537, PubMed:19136968, PubMed:21455173, PubMed:21455180, PubMed:21455181). The LUBAC complex is also involved in innate immunity by conjugating linear polyubiquitin chains at the surface of bacteria invading the cytosol to form the ubiquitin coat surrounding bacteria (PubMed:28481331). LUBAC is not able to initiate formation of the bacterial ubiquitin coat, and can only promote formation of linear polyubiquitins on pre-existing ubiquitin (PubMed:28481331). The bacterial ubiquitin coat acts as an 'eat-me' signal for xenophagy and promotes NF-kappa-B activation (PubMed:28481331). Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis (PubMed:23708998). Binds polyubiquitin of different linkage types (PubMed:20005846, PubMed:21455181)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HOIL-1L deficiency induces cell cycle alteration which causes immaturity of skeletal muscle and cardiomyocytes. Erratum:[Sci Rep. 2024 May 6;14(1):10331. doi: 10.1038/s41598-024-61046-x. PMID: 38710811] Publication Status: Online-Only, [RefSeq, PubMed]; Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN., [RefSeq, PubMed]; RBCK1 (human C20orf18 and rat Pkcbpb15) is involved in transcriptional machinery in the nuclear bodies, and its transcriptional activity is regulated by nucleocytoplasmic shuttling., [RefSeq, PubMed]; RBCK1 Overexpression Attenuates Inflammation and Mobility of Derp1-Induced Nasal Mucosal Cells by Downregulating NLRP3., [RefSeq, PubMed]; RBCK1 overexpression is associated with immune cell infiltration and poor prognosis 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": 2, "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": "O95623;Q86SL2;Q96BS3;Q9BYM9", "ec_number_list": "2.3.2.24;2.3.2.23;2.7.11.10;2.7.11.1;2.3.2.26;2.3.2.27;2.7.11.25;2.3.2.31;3.4.19.12;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", "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:0005829 cytosol;GO:0071797 LUBAC complex", "go_biological_process": "GO:0097039 protein linear polyubiquitination;GO:0043065 positive regulation of apoptotic process;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0050852 T cell receptor signaling pathway;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "Q9BYM8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0R4-1", "uniprot_id": "HDHD2_HUMAN", "mass": 28536.0, "length": 259, "protein_name": "Haloacid dehalogenase-like hydrolase domain-containing protein 2", "gene_name": "HDHD2", "organism": "Human", "refseq_name": "haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform 2", "refseq_ac": "NP_001305694", "gene_names_uniprotkb": "HDHD2", "gene_names_refseq": "3110052N05Rik; HDHD2; HEL-S-301", "protein_names_uniprotkb": "Haloacid dehalogenase-like hydrolase domain-containing protein 2", "protein_names_refseq": "epididymis secretory protein Li 301; epididymis secretory sperm binding protein; haloacid dehalogenase-like hydrolase domain-containing protein 2 isoform 2; haloacid dehalogenase-like hydrolase domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84064)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11230166;11237011;23301498;23481700;25576301;25892735;28228285;28832583;29242379;29314611;29769354;30573663;31844290;32157095;32350084;32488085;33592498;33912179;33968037;34087483;34357683;35051231;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7T3;Q96NV4", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding;GO:0046872 metal ion binding;GO:0016791 phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9H0R4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P40189-1", "uniprot_id": "IL6RB_HUMAN", "mass": 103537.0, "length": 918, "protein_name": "Interleukin-6 receptor subunit beta", "gene_name": "IL6ST", "organism": "Human", "refseq_name": "interleukin-6 receptor subunit beta isoform 3 precursor", "refseq_ac": "NP_001177910", "gene_names_uniprotkb": "IL6ST", "gene_names_refseq": "CD130; CDW130; GP130; HIES4A; HIES4B; HIES4; IL-6RB; IL6ST; IMD94; STWS2; sGP130", "protein_names_uniprotkb": "Interleukin-6 receptor subunit beta; CDw130; IL-6 receptor subunit beta; IL-6R subunit beta; IL-6R-beta; IL-6RB; Interleukin-6 signal transducer; Membrane glycoprotein 130; Oncostatin-M receptor subunit alpha; gp130", "protein_names_refseq": "CD130 antigen; IL-6 receptor subunit beta; IL-6R subunit beta; gp130 of the rheumatoid arthritis antigenic peptide-bearing soluble form; gp130, oncostatin M receptor; interleukin receptor beta chain; interleukin-6 receptor subunit beta isoform 3 precursor; interleukin-6 signal transducer; membrane glycoprotein 130; membrane glycoprotein gp130; oncostatin-M receptor subunit alpha", "tax_id": 9606, "disease": "immunodeficiency 94 (Disease Ontology:DOID:0061064); hyper IgE recurrent infection syndrome 4 (Disease Ontology:DOID:0080596); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); hyperandrogenism (Disease Ontology:DOID:11613); status epilepticus (Disease Ontology:DOID:1824); brain ischemia (Disease Ontology:DOID:2316); arteriosclerosis (Disease Ontology:DOID:2349); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); Stuve-Wiedemann syndrome 2 (MONDO:MONDO:0030756); hyper-IgE recurrent infection syndrome 4A, autosomal dominant (MONDO:MONDO:0800131)", "pathway": " (hsa:3572); (R-HSA-1059683); (R-HSA-6788467); (R-HSA-8984722); (R-HSA-9020956); (R-HSA-9958825)", "pathway_count": 6, "publication_count": 195, "publication_id_list": "10.1101/2023.09.13.557529;10586060;10777583;10811661;10812968;10851062;10880057;10966616;11098061;11121117;11237011;11238858;11251120;11285233;11294841;11834704;11943154;12121660;12361954;12483717;12601009;12707266;12734330;12811586;12829785;14527405;14565860;14764690;1542794;15450249;15519241;16051226;16324152;16335952;16459330;16868551;16959974;17081983;17675186;17874423;18033300;18088087;18292512;18389480;18519587;18555777;18669648;19139490;19159218;19386761;19651622;19664994;19915009;19920145;19933857;20068231;20489211;20519510;21631431;21715184;2183031;21990364;22036506;22117219;22306691;22457856;22487722;2261637;22814351;23090970;23186163;23294003;23345538;2405250;24058793;24190977;24275569;24572363;24629561;24743305;24771852;25242236;25502872;25731159;25992861;26154972;26279360;26876177;26927669;26992070;27119567;27384491;27537522;27600516;2779549;27862975;2788034;27957549;28228285;28317937;28467828;28649982;28747427;29242379;29391424;29557506;29632711;29741879;29786170;29789417;30279168;30309848;30429286;31651330;31844290;31914175;32157095;32161166;32207811;32306778;32350084;32387766;32488085;32502341;32938616;32983136;33043033;33141586;33298915;33314148;33491667;33517393;33592498;33717175;33771552;33936100;33968037;33981976;34019948;34078123;34171305;34211107;34215617;34357683;34405274;34433824;34509645;34932366;35051231;35154160;35251023;35289036;35580925;36010968;36215666;36241641;36930708;37074911;37938771;38665916;39414364;39532904;7510216;7512451;7670098;7701321;7738033;7812050;7852997;7862649;7871433;7957045;8119965;8134389;8140422;8234276;8272873;8390097;8483502;8626374;8627290;8637716;8662591;8662795;8999038;9030543;9188471;9238703;9285712;9342359;9382798;9406996;9501088;9630226;9794795", "class_list": "", "function": "Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response (PubMed:11121117, PubMed:21990364, PubMed:30279168). Also blocks IL11 cluster signaling through IL11R (PubMed:30279168)., [UniProtKB, PubMed, PubMed, PubMed]; Functions as a shared signal-transducing subunit not only for IL6 but also for other cytokine receptor complexes, including IL6, LIF, OSM, CNTF, IL11, CTF1, BSF3, MT-RNR2/humanin, CLCF1 and the heterodimeric complex CRLF1-CLCF1 (PubMed:11285233, PubMed:11294841, PubMed:1542794, PubMed:19386761, PubMed:2261637, PubMed:27384491, PubMed:36930708, PubMed:39532904, PubMed:8272873, PubMed:8999038, PubMed:9030543, PubMed:9188471). Engages site 2 of CNTF, CLCF1, LIF, and IL-6, and site 3 of IL27 and IL6 (PubMed:36930708). Initiates signal transmission through three mechanisms (PubMed:11285233, PubMed:11294841, PubMed:1542794, PubMed:19386761, PubMed:19915009, PubMed:2261637, PubMed:23294003). Binding of cytokines, such as IL6 or IL11 to the alpha-chains of their specific cell surface receptor triggers homodimerization of IL6ST/gp130 (PubMed:19915009, PubMed:2261637, PubMed:23294003, PubMed:8637716). In contrast, binding of other IL-6 family cytokines can result in the formation of a IL6ST/gp130 heterodimer with another signal-transducing receptor, such as LIFR or OSMR (PubMed:1542794, PubMed:39532904, PubMed:8999038, PubMed:9030543, PubMed:9188471). Moreover, binding of CNTF or CLCF1 or the heterodimeric complex CRLF1-CLCF1 or MT-RNR2/humanin to the non-signaling receptor CNTFR induces heterodimerization of the IL6ST/gp130 with LIFR or IL27RA/WSX1 (in the case of MT-RNR2/humanin) (PubMed:11285233, PubMed:11294841, PubMed:19386761). Mechanistically, homodimerization or heterodimerization of IL6ST/gp130 activate JAK tyrosine kinases bound to their intracellular domains (PubMed:11294841, PubMed:19915009, PubMed:2261637, PubMed:23294003, PubMed:27384491, PubMed:8272873, PubMed:9030543, PubMed:9188471). These kinases subsequently phosphorylate the homodimer or heterodimer form of IL6ST/gp130 (PubMed:11285233, PubMed:11294841, PubMed:19915009, PubMed:23294003, PubMed:25731159, PubMed:9030543). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activators of transcription (STATs) (PubMed:11285233, PubMed:11294841, PubMed:19386761, PubMed:19915009, PubMed:23294003, PubMed:25731159, PubMed:27384491, PubMed:9030543, PubMed:9188471). The IL6 signaling pathway induces, in parallel, the expression of two cytokine receptor signaling inhibitors, SOCS1 and SOCS3, which inhibit JAK and terminate the activity of the IL6 signaling pathway as a negative feedback loop (By similarity). Also activates the yes-associated protein 1 (YAP) and NOTCH pathways to control inflammation-induced epithelial regeneration, independently of STAT3 (By similarity). Mediates signals which regulate immune response, hematopoiesis, pain control and bone metabolism (By similarity). Has a role in embryonic development (By similarity). Essential for survival of motor and sensory neurons and for differentiation of astrocytes (By similarity). Required for expression of TRPA1 in nociceptive neurons (By similarity). Required for the maintenance of PTH1R expression in the osteoblast lineage and for the stimulation of PTH-induced osteoblast differentiation (By similarity). Required for normal trabecular bone mass and cortical bone composition (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Ironing Out the Mechanism of gp130 Signaling. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 12, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 20, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 48, "disease_count": 13, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A0N0L4;Q5FC04;Q9UQ41", "ec_number_list": "", "go_molecular_function": "GO:0004897 ciliary neurotrophic factor receptor activity;GO:0004921 interleukin-11 receptor activity;GO:0019970 interleukin-11 binding;GO:0015026 coreceptor activity;GO:0019838 growth factor binding", "go_cellular_component": "GO:0070110 ciliary neurotrophic factor receptor complex;GO:0005896 interleukin-6 receptor complex;GO:0005900 oncostatin-M receptor complex;GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0001960 negative regulation of cytokine-mediated signaling pathway;GO:0030219 megakaryocyte differentiation;GO:0070120 ciliary neurotrophic factor-mediated signaling pathway;GO:0038165 oncostatin-M-mediated signaling pathway;GO:0060302 negative regulation of cytokine activity", "synthesized_glycan_count": 0, "hit_score": 25.9, "record_id": "P40189-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92902-1", "uniprot_id": "HPS1_HUMAN", "mass": 79292.0, "length": 700, "protein_name": "BLOC-3 complex member HPS1", "gene_name": "HPS1", "organism": "Human", "refseq_name": "BLOC-3 complex member HPS1 isoform a", "refseq_ac": "NP_000186", "gene_names_uniprotkb": "HPS1; HPS", "gene_names_refseq": "BLOC3S1; HPS1; HPS", "protein_names_uniprotkb": "BLOC-3 complex member HPS1; Hermansky-Pudlak syndrome 1 protein", "protein_names_refseq": "BLOC-3 complex member HPS1 isoform a; BLOC-3 complex member HPS1; Hermansky-Pudlak syndrome 1 protein", "tax_id": 9606, "disease": "oculocutaneous albinism (Disease Ontology:DOID:0050632); Hermansky-Pudlak syndrome 1 (Disease Ontology:DOID:0060539); platelet storage pool deficiency (Disease Ontology:DOID:2223); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753); proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:3257); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 237, "publication_id_list": "10094567;10798370;10818110;10971344;10990452;11038176;11179213;11237011;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18510355;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19656848;19725050;19729655;19745841;20008558;20048159;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24296415;24366607;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25645385;25648148;25713415;25880248;25892735;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27846572;27920218;28228285;28832583;29437277;29493099;29508533;29557506;30315122;30429286;31154438;31530632;31844290;32157095;32265295;32357974;32387766;32502341;32938616;32983136;33224134;33298915;33717175;33878481;33912179;33968037;33981976;34211107;34357683;34561969;34736469;34932366;35051231;35328057;35580925;36010968;36241641;36284347;36581221;39894887;7688123;7911226;8144603;8408203;8522602;8863739;8896559;9020086;9020161;9030515;9136770;9182823;9323142;9497254;9579545;9590177;9733780", "class_list": "", "function": "Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991)., [UniProtKB, PubMed]; Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families. Publication Status: Online-Only, [RefSeq, PubMed]; HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6., [RefSeq, PubMed]; Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MRT2;O15402;O15502;Q5TAA3;Q8WXE5", "ec_number_list": "", "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0031085 BLOC-3 complex;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005764 lysosome;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:1903232 melanosome assembly;GO:0007601 visual perception;GO:0007040 lysosome organization;GO:0060155 platelet dense granule organization;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 24.0, "record_id": "Q92902-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P121-1", "uniprot_id": "NTRI_HUMAN", "mass": 37971.0, "length": 344, "protein_name": "Neurotrimin", "gene_name": "NTM", "organism": "Human", "refseq_name": "neurotrimin isoform 2 precursor", "refseq_ac": "NP_001041674", "gene_names_uniprotkb": "NTM; IGLON2; NT; PRO337", "gene_names_refseq": "CEPU-1; HNT; IGLON2; NTM; NTRI", "protein_names_uniprotkb": "Neurotrimin; IgLON family member 2; hNT", "protein_names_refseq": "IgLON family member 2; neurotrimin isoform 2 precursor", "tax_id": 9606, "disease": "primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); uterine fibroid (Disease Ontology:DOID:13223); ovary epithelial cancer (Disease Ontology:DOID:2152); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:50863); (R-HSA-163125)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11072085;11237011;12819783;12975309;15340161;15379248;19913121;2443973;26334118;28228285;31848261;32033718;32710982;33592498;3422494;35580925", "class_list": "", "function": "Highly Conserved Molecular Features in IgLONs Contrast Their Distinct Structural and Biological Outcomes., [RefSeq, PubMed]; Human neurotrimin is expressed on the surface of CHO cells and could strengthen their aggregation., [RefSeq, PubMed]; NTM is not a susceptibility gene for autism spectrum disorders., [RefSeq, PubMed]; NTM shows close linkage to OPCML on chromosome 11q25., [RefSeq, PubMed]; Neural cell adhesion molecule., [UniProtKB]; Neurotrimin, a neural cell adhesion molecule, is increased in leiomyoma compared to myometrium in patient tissue after estrogen and progesterone treatment., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 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": 38, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A0MTT2;Q6UXJ3;Q86VJ9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0048787 presynaptic active zone membrane;GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098839 postsynaptic density membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0051963 regulation of synapse assembly;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;GO:0008038 neuron recognition", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9P121-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99832-1", "uniprot_id": "TCPH_HUMAN", "mass": 59367.0, "length": 543, "protein_name": "T-complex protein 1 subunit eta", "gene_name": "CCT7", "organism": "Human", "refseq_name": "T-complex protein 1 subunit eta isoform b", "refseq_ac": "NP_001009570", "gene_names_uniprotkb": "CCT7; CCTH; NIP7-1", "gene_names_refseq": "CCT7; CCTETA; CCTH; NIP7-1; TCP1ETA", "protein_names_uniprotkb": "T-complex protein 1 subunit eta; 3.6.1.-; CCT-eta; Chaperonin containing T-complex polypeptide 1 subunit 7; HIV-1 Nef-interacting protein; TCP-1-eta", "protein_names_refseq": "CCT-eta; HIV-1 Nef interacting protein; T-complex protein 1 subunit eta isoform b; T-complex protein 1 subunit eta; TCP-1-eta; chaperonin containing T-complex polypeptide 1 subunit 7; chaperonin containing t-complex polypeptide 1, eta subunit", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); sensory peripheral neuropathy (Disease Ontology:DOID:2491)", "pathway": " (hsa:10574); (R-HSA-389957); (R-HSA-389960); (R-HSA-390450); (R-HSA-390471); (R-HSA-6814122); (R-HSA-9013418); (R-HSA-9013422)", "pathway_count": 8, "publication_count": 160, "publication_id_list": "10501844;11237011;11532003;12502735;14532270;14654843;15107402;15889144;16702223;16717095;17697703;18775504;18835386;19011634;19376773;19608861;19748539;20934997;21098288;21995946;22223895;22424782;22544926;22645359;22898188;23481700;23637185;23747015;23783831;24129315;24366607;24608665;24714562;24715725;24756126;24958902;25342745;25418920;25467444;25576301;25645385;25659125;25675501;25810538;25892735;26154972;26374642;26375851;26728094;26758079;26768311;26811146;26992070;27314390;27397612;27452731;27600516;27846572;27862975;27920218;27941885;28218747;28228285;28446606;28510447;28514659;28832583;28834231;28904123;29242379;29317506;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30397120;30410026;30429286;30484775;30524438;30779550;30833945;30896450;31154438;31217245;31222486;31431478;31530632;31717259;31844290;31848261;31871319;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33144677;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34433824;34509645;34561969;34725712;34932366;35051231;35073517;35083852;35138101;35154160;35251023;35318648;35449234;35561310;35580925;36010968;36215666;36241641;36284347;36493755;37193829;37938771;38665916;39480921;39990658;40914422;9153422;9819444", "class_list": "", "function": "Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis (PubMed:25467444, PubMed:36493755, PubMed:35449234, PubMed:37193829). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Functional characterization of the CCT complex and its subunits in mouse., [RefSeq, PubMed]; Overexpression of chaperonin containing TCP1 subunit 7 has diagnostic and prognostic value for hepatocellular carcinoma., [RefSeq, PubMed]; This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K7E6;A8MWI8;B7WNW9;B7Z4T9;B7Z4Z7;O14871;Q6FI26", "ec_number_list": "5.6.2.4;3.6.5.-;3.6.1.-;3.6.4.-;3.6.4.13;1.2.1.12;3.5.1.-;3.5.1.98;2.7.11.39;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.4.-;3.1.4.35;3.6.5.2;5.2.1.8;3.2.1.45;2.4.1.-;3.2.1.-;3.2.1.46;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.-.-;3.4.19.12;7.6.2.1;2.3.2.27;2.7.11.1;7.2.2.-;5.6.2.-;2.3.2.-;3.6.1.15;3.6.-.-;3.4.24.-;3.1.13.1;5.6.2.6;3.4.-.-;3.1.13.-;2.7.1.91;2.3.1.-;2.7.4.3", "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0070062 extracellular exosome;GO:0044297 cell body", "go_biological_process": "GO:1904871 positive regulation of protein localization to Cajal body;GO:0032212 positive regulation of telomere maintenance via telomerase;GO:0050821 protein stabilization;GO:0006457 protein folding;GO:1904874 positive regulation of telomerase RNA localization to Cajal body", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q99832-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09651-1", "uniprot_id": "ROA1_HUMAN", "mass": 38747.0, "length": 372, "protein_name": "Heterogeneous nuclear ribonucleoprotein A1", "gene_name": "HNRNPA1", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein A1 isoform a", "refseq_ac": "NP_002127", "gene_names_uniprotkb": "HNRNPA1; HNRPA1", "gene_names_refseq": "ALS19; ALS20; HNRNPA1; HNRPA1L3; HNRPA1; IBMPFD3; MPD3; UP 1; hnRNP A1; hnRNP-A1", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein A1; Helix-destabilizing protein; Single-strand RNA-binding protein; hnRNP A1; hnRNP core protein A1", "protein_names_refseq": "epididymis secretory sperm binding protein; helix-destabilizing protein; heterogeneous nuclear ribonucleoprotein A1 isoform a; heterogeneous nuclear ribonucleoprotein A1B protein; heterogeneous nuclear ribonucleoprotein B2 protein; heterogeneous nuclear ribonucleoprotein core protein A1; hnRNP core protein A1-like 3; nuclear ribonucleoprotein particle A1 protein; putative heterogeneous nuclear ribonucleoprotein A1-like 3; single-strand DNA-binding protein UP1; single-strand RNA-binding protein", "tax_id": 9606, "disease": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Disease Ontology:DOID:0050881); amyotrophic lateral sclerosis type 20 (Disease Ontology:DOID:0060211); distal myopathy 3 (Disease Ontology:DOID:0111189); inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 (Disease Ontology:DOID:0111386); Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:3178); (R-HSA-6803529); (R-HSA-72163); (R-HSA-72203); (R-HSA-9692914); (R-HSA-9735869); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 319, "publication_id_list": "10.1101/2023.09.13.557529;10669729;10882114;10938105;10982855;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12393912;12411573;12414731;12477934;14519844;14625303;14713954;14729942;14749727;14762106;15037765;15084397;15161980;15565158;15592455;15601847;15782174;15862300;16111636;16314458;16410617;16449636;16603716;16809785;1691095;16912115;17081983;17095540;17128255;17229681;17287340;17289661;17322306;17332742;17371836;17606899;17924679;17959601;18212344;18243139;18288197;18322460;18448518;18452278;18562319;18573884;18593880;18669648;18707149;18767875;1906035;19103666;19165350;19217410;19285943;19367720;19413330;19536130;19608861;19651622;19656952;19664995;19838190;19901323;20010808;20068230;20068231;20166139;20305658;20423332;20695905;20980672;21295486;21406692;21454539;21536652;21740066;2176620;2176635;21911577;22110043;22121020;22174690;22365833;22813749;22855488;22959432;22961380;23035226;23186163;23222130;23236153;23345524;23455423;23783831;23874216;24076191;24129315;24149845;24196718;24304693;24316715;24407421;24448447;24549040;24715725;24737827;24914973;24981863;25301780;25301781;25324306;25418920;25432065;25505266;25555158;25576301;2558966;25616961;25645385;25678563;25755297;25892735;25999341;26092250;26154972;26375851;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27600516;2760922;27683217;27694260;27846572;27862975;27913144;27920218;28062851;28076346;28096519;28218747;28228285;2836799;28431233;28502770;28514659;28781166;28832583;28834231;28904123;28911096;28985503;29186539;29237092;29242379;29274231;29301961;29331515;29344170;29351928;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29605689;29632711;2963332;29769354;29786170;29789417;29902443;30059200;30139799;3023065;30257008;30315122;30315277;30410026;30429286;30444036;30524438;30599162;30620550;30705154;30728453;30765414;30779550;30833945;30941482;30975767;31217245;31373491;31409651;31492838;31498791;31530632;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32574038;32816001;32897882;32938616;32983136;33043033;33123756;33177556;33214551;33243851;33298915;33319070;33360543;33446560;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34080184;34087483;34171305;34185709;34211107;34301950;34357683;34405274;34509645;34561969;34722876;34725712;34822310;34932366;35051231;35083852;35132862;35154160;35177536;35215846;35251023;35318648;35385551;35513511;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37217939;37471146;37541260;3757028;37938771;38665916;39072769;39990658;40136647;40307207;40596516;40914422;7727389;7730395;7769000;8288564;8352591;8451194;8521471;8566756;8608946;9016565;9115444;9164463;9242493;9271388;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9858549", "class_list": "", "function": "(Microbial infection) Cleavage by Enterovirus 71 protease 3C results in increased translation of apoptosis protease activating factor APAF1, leading to apoptosis., [UniProtKB, PubMed]; (Microbial infection) May play a role in HCV RNA replication., [UniProtKB, PubMed]; Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy., [RefSeq, PubMed]; Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and modulation of splice site selection (PubMed:17371836). Plays a role in the splicing of pyruvate kinase PKM by binding repressively to sequences flanking PKM exon 9, inhibiting exon 9 inclusion and resulting in exon 10 inclusion and production of the PKM M2 isoform (PubMed:20010808). Binds to the IRES and thereby inhibits the translation of the apoptosis protease activating factor APAF1 (PubMed:31498791). May bind to specific miRNA hairpins (PubMed:28431233)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8K4Z8;Q3MIB7;Q6PJZ7", "ec_number_list": "", "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0098505 G-rich strand telomeric DNA binding;GO:0061752 telomeric repeat-containing RNA binding;GO:0003677 DNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0051170 import into nucleus;GO:0032211 negative regulation of telomere maintenance via telomerase;GO:0032212 positive regulation of telomere maintenance via telomerase;GO:0042149 cellular response to glucose starvation;GO:0051168 nuclear export", "synthesized_glycan_count": 0, "hit_score": 33.4, "record_id": "P09651-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60282-1", "uniprot_id": "KIF5C_HUMAN", "mass": 109495.0, "length": 957, "protein_name": "Kinesin heavy chain isoform 5C", "gene_name": "KIF5C", "organism": "Human", "refseq_name": "kinesin heavy chain isoform 5C", "refseq_ac": "NP_004513", "gene_names_uniprotkb": "KIF5C; KIAA0531; NKHC2", "gene_names_refseq": "CDCBM2; KIF5C; KINN; NKHC-2; NKHC2; NKHC", "protein_names_uniprotkb": "Kinesin heavy chain isoform 5C; 3.6.4.-; Kinesin heavy chain neuron-specific 2; Kinesin-1", "protein_names_refseq": "kinesin heavy chain isoform 5C; kinesin heavy chain neuron-specific 2; kinesin-1; neuron-specific kinesin heavy chain 2", "tax_id": 9606, "disease": "complex cortical dysplasia with other brain malformations 2 (Disease Ontology:DOID:0090133); Alzheimer's disease 3 (Disease Ontology:DOID:0110042); spinal muscular atrophy (Disease Ontology:DOID:12377); leiomyoma (Disease Ontology:DOID:127); neurodegenerative disease (Disease Ontology:DOID:1289); motor neuron disease (Disease Ontology:DOID:231); hereditary spastic paraplegia (Disease Ontology:DOID:2476); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:3800); (R-HSA-264876)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10521251;11237011;11462236;11493706;11707400;11904301;14617756;14704853;1528899;15331542;15644324;15878854;16158220;16158222;16407158;16714477;16984975;19525941;20308425;21091435;21145486;21308844;21713314;23033978;23603762;24812067;25091901;2669954;27013971;2822027;28228285;28832583;28904123;29048727;29242379;29393594;29557506;29786170;29789417;30315122;31184304;31844290;31848261;32157095;32357974;32387766;32723473;33485965;34932366;34966180;35051231;36122673;36215666;36284347;37217939;37322260;3896518;7626024;8916141;9166668;9207799;9361024;9631292", "class_list": "", "function": "Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy., [RefSeq, PubMed]; KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice., [RefSeq, PubMed]; LncRNA ZNF667-AS1 Targets miR-523-3p/KIF5C Axis to Hinder Colon Cancer Progression., [RefSeq, PubMed]; Microtubule-associated force-producing protein that may play a role in organelle transport. Has ATPase activity (By similarity). Involved in synaptic transmission (PubMed:24812067). Mediates dendritic trafficking of mRNAs (By similarity). Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95079;Q2YDC5", "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;5.6.1.3;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:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0034190 apolipoprotein receptor binding;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0035253 ciliary rootlet;GO:0043025 neuronal cell body", "go_biological_process": "GO:0099641 anterograde axonal protein transport;GO:0007411 axon guidance;GO:0098971 anterograde dendritic transport of neurotransmitter receptor complex;GO:0006996 organelle organization;GO:0008298 intracellular mRNA localization", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "O60282-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29590-1", "uniprot_id": "PML_HUMAN", "mass": 97551.0, "length": 882, "protein_name": "Protein PML", "gene_name": "PML", "organism": "Human", "refseq_name": "protein PML isoform 6", "refseq_ac": "NP_002666", "gene_names_uniprotkb": "PML; MYL; PP8675; RNF71; TRIM19", "gene_names_refseq": "MYL; PML; PP8675; RNF71; TRIM19", "protein_names_uniprotkb": "Protein PML; 2.3.2.-; E3 SUMO-protein ligase PML; Promyelocytic leukemia protein; RING finger protein 71; RING-type E3 SUMO transferase PML; TRIM19; Tripartite motif-containing protein 19", "protein_names_refseq": "E3 SUMO-protein ligase PML; PML/RARA fusion; RING finger protein 71; RING-type E3 SUMO transferase PML; probable transcription factor PML; promyelocytic leukemia protein; promyelocytic leukemia, inducer of; protein PML isoform 6; protein PML; tripartite motif protein TRIM19; tripartite motif-containing protein 19", "tax_id": 9606, "disease": "acute promyelocytic leukemia (Disease Ontology:DOID:0060318); pre-eclampsia (Disease Ontology:DOID:10591); skin cancer (Disease Ontology:DOID:4159); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); hepatocellular carcinoma (Disease Ontology:DOID:684); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:5371); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-6804758); (R-HSA-877300); (R-HSA-8934593); (R-HSA-8948747); (R-HSA-9609690)", "pathway_count": 8, "publication_count": 326, "publication_id_list": "10067896;10233977;10574707;10610177;10669754;10684855;10779416;10856244;10986460;11025664;11099047;11237011;11331580;11432836;11500381;11575918;11704850;11792325;11830487;11889051;11972023;12006491;12040185;12172539;12393906;12402044;12419228;12438563;12439746;12446674;12691149;12773567;12810724;12857923;12915721;1311253;1312695;1396683;14586410;14645235;14722222;14976184;1508672;15093545;15136035;15143187;15163746;15175327;15195100;15322115;15331439;15355988;15356634;15388922;15467728;15530433;15608651;15809060;15823533;15829507;15940266;15959518;16030353;16140760;16237089;16287839;16467876;16478998;1652368;1652369;16608850;16626738;16688858;16778193;16810316;16839880;16873060;16912307;17030982;17081983;17081985;17125875;17173041;1720570;17218261;17237358;17287340;17431401;17589498;17681183;17693435;17942542;18199536;18203656;18298799;18327259;18362138;18391071;18408734;18452278;18509536;18535146;18591661;18621739;18625722;18669648;18691969;18707149;18708356;18716620;18794358;19007248;19015637;19114653;19287951;19473982;19487573;19567472;19596686;19622798;19651622;19664995;19682613;19690332;19703418;19706679;19779455;19956565;20016594;20016603;20049711;20058876;20068231;20080666;20112406;20130243;20166139;20190268;20223231;20228809;20300531;20304997;20363976;20378816;20388916;20501696;20625391;20639899;20660729;20702643;20705237;20719947;20832753;20943951;20972456;21098080;21147198;21148299;21161613;21172801;21198351;21284855;21304940;21406692;21475307;21501958;21550342;21639834;21690215;21840486;21994459;22000013;22002537;22033920;22117195;22155184;22174689;22237204;22274616;22374676;22406621;22508508;22589541;22629402;22635276;22661230;22685230;22751501;22759635;22773875;22869143;22875967;22886304;22935031;22945642;23007646;23028697;23061660;23135708;23186163;23219818;23301498;23316480;23430110;23431171;23750026;23856247;23871147;24002598;24027577;24275569;24388988;24417533;24714562;24715725;24782567;25114211;25218447;25418920;25452107;25513827;25562167;25576301;25645385;25755297;25772236;25772364;26154972;26375851;26572645;26716895;26749280;26811146;26992070;27211601;27501258;27609478;27846572;27903803;27920218;28228285;28250117;28415052;28446606;28832583;28842558;28904123;29242379;29437277;29493099;29508533;29557506;29786170;30315122;30360396;30410026;30429286;30761409;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32387766;32897882;32938616;32983136;33141586;33214551;33239784;33298915;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34930370;34932366;35051231;35580925;36010968;36284347;36581221;37823593;37864298;37938771;38129745;38648485;38665916;38944257;40307207;40914422;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7729428;7796299;8156998;8176225;8386878;8483949;8530158;8550631;8631301;9111318;9143706;9412458;9420283;9452416;9570750;9756909;9885291", "class_list": "", "function": "Exhibits antiviral activity against both DNA and RNA viruses. The antiviral activity can involve one or several isoform(s) and can be enhanced by the permanent PML-NB-associated protein DAXX or by the recruitment of p53/TP53 within these structures. Isoform PML-4 restricts varicella zoster virus (VZV) via sequestration of virion capsids in PML-NBs thereby preventing their nuclear egress and inhibiting formation of infectious virus particles. The sumoylated isoform PML-4 restricts rabies virus by inhibiting viral mRNA and protein synthesis. The cytoplasmic isoform PML-14 can restrict herpes simplex virus-1 (HHV-1) replication by sequestering the viral E3 ubiquitin-protein ligase ICP0 in the cytoplasm. Isoform PML-6 shows restriction activity towards human cytomegalovirus (HHV-5) and influenza A virus strains PR8(H1N1) and ST364(H3N2). Sumoylated isoform PML-4 and isoform PML-12 show antiviral activity against encephalomyocarditis virus (EMCV) by promoting nuclear sequestration of viral polymerase (P3D-POL) within PML NBs. Isoform PML-3 exhibits antiviral activity against poliovirus by inducing apoptosis in infected cells through the recruitment and the activation of p53/TP53 in the PML-NBs. Isoform PML-3 represses human foamy virus (HFV) transcription by complexing the HFV transactivator, bel1/tas, preventing its binding to viral DNA. PML may positively regulate infectious hepatitis C viral (HCV) production and isoform PML-2 may enhance adenovirus transcription. Functions as an E3 SUMO-protein ligase that sumoylates (HHV-5) immediate early protein IE1, thereby participating in the antiviral response (PubMed:20972456, PubMed:28250117). Isoforms PML-3 and PML-6 display the highest levels of sumoylation activity (PubMed:20972456, PubMed:28250117)., [UniProtKB, PubMed, PubMed]; Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumor suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. Acts as the scaffold of PML-NBs allowing other proteins to shuttle in and out, a process which is regulated by SUMO-mediated modifications and interactions. Inhibits EIF4E-mediated mRNA nuclear export by reducing EIF4E affinity for the 5' 7-methylguanosine (m7G) cap of target mRNAs (PubMed:11500381, PubMed:11575918, PubMed:18391071). Isoform PML-4 has a multifaceted role in the regulation of apoptosis and growth suppression: activates RB1 and inhibits AKT1 via interactions with PP1 and PP2A phosphatases respectively, negatively affects the PI3K pathway by inhibiting MTOR and activating PTEN, and positively regulates p53/TP53 by acting at different levels (by promoting its acetylation and phosphorylation and by inhibiting its MDM2-dependent degradation). Isoform PML-4 also: acts as a transcriptional repressor of TBX2 during cellular senescence and the repression is dependent on a functional RBL2/E2F4 repressor complex, regulates double-strand break repair in gamma-irradiation-induced DNA damage responses via its interaction with WRN, acts as a negative regulator of telomerase by interacting with TERT, and regulates PER2 nuclear localization and circadian function. Isoform PML-6 inhibits specifically the activity of the tetrameric form of PKM. The nuclear isoforms (isoform PML-1, isoform PML-2, isoform PML-3, isoform PML-4 and isoform PML-5) in concert with SATB1 are involved in local chromatin-loop remodeling and gene expression regulation at the MHC-I locus. Isoform PML-2 is required for efficient IFN-gamma induced MHC II gene transcription via regulation of CIITA. Cytoplasmic PML is involved in the regulation of the TGF-beta signaling pathway. PML also regulates transcription activity of ELF4 and can act as an important mediator for TNF- and IFN-alpha-mediated inhibition of endothelial cell network formation and migration., [UniProtKB, PubMed, PubMed, PubMed]; Mutations at proximal cysteine residues in PML impair ATO binding by destabilizing the RBCC domain., [RefSeq, PubMed]; Nuclear export of PML promotes p53-mediated apoptosis and ferroptosis., [RefSeq, PubMed]; PML modulates epigenetic composition of chromatin to regulate expression of pro-metastatic genes in triple-negative breast cancer., [RefSeq, PubMed]; PML-mediated nuclear loosening permits immunomodulation of mesenchymal stem/stromal cells under inflammatory conditions., [RefSeq, PubMed]; PML::RARA and GATA2 proteins interact via DNA templates to induce aberrant self-renewal in mouse and human hematopoietic cells., [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. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 43, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 17, "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": "E9PBR7;P29591;P29592;P29593;Q00755;Q15959;Q59FP9;Q8WUA0;Q96S41;Q9BPW2;Q9BWP7;Q9BZX6;Q9BZX7;Q9BZX8;Q9BZX9;Q9BZY0;Q9BZY2;Q9BZY3", "ec_number_list": "2.3.2.27;3.5.1.-;3.5.1.98;2.3.2.-;2.7.7.84;1.8.4.-;1.8.-.-;2.7.11.1;3.6.1.-;3.6.5.-;2.3.1.-;3.1.3.67;3.1.3.-;3.1.3.16;3.1.3.48;2.3.1.48;3.6.4.-;6.3.2.n3;2.1.1.356;3.4.19.12", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1904816 positive regulation of protein localization to chromosome, telomeric region;GO:0044790 suppression of viral release by host;GO:0030578 PML body organization;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 32.9, "record_id": "P29590-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61247-1", "uniprot_id": "RS3A_HUMAN", "mass": 29945.0, "length": 264, "protein_name": "Small ribosomal subunit protein eS1", "gene_name": "RPS3A", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS1 isoform 1", "refseq_ac": "NP_000997", "gene_names_uniprotkb": "RPS3A; FTE1; MFTL", "gene_names_refseq": "FTE1; MFTL; RPS3A; S3A; eS1", "protein_names_uniprotkb": "Small ribosomal subunit protein eS1; 40S ribosomal protein S3a; Fte-1; v-fos transformation effector protein", "protein_names_refseq": "40S ribosomal protein S3a; fte-1; small ribosomal subunit protein eS1 isoform 1; small ribosomal subunit protein eS1; v-fos transformation effector protein 1", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036)", "pathway": " (hsa:6189); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 337, "publication_id_list": "10358005;10364207;10380706;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11823430;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1398113;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;1549582;15534230;15546618;15592455;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16964243;16989641;17053788;17081983;17142313;17189298;17267404;17289661;17322306;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18691976;18974281;19007248;19060897;19106111;19150429;19332556;19359157;19413330;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19651622;19691289;19706539;19748539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20166139;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21406692;21419344;22072790;22121020;22174690;22190735;22195017;22645359;22855488;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23301498;23439679;23481700;23482395;23555621;23636399;23746841;2388630;24275569;24366607;24397554;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25432065;25525153;25576301;25645385;25755297;25810538;25880248;25969445;26154972;26237581;26374642;26375851;26728094;26768311;26992070;27526673;27600516;27846572;27920218;28065601;28132843;28218747;28228285;28510447;28649982;28666385;28685749;28832583;28834231;28855257;28860189;28904123;29169044;29242379;29314611;29317506;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29954836;30192525;30293783;30315122;30410026;30524438;30779550;30804176;30833945;31154438;31217245;31222486;31530632;31717259;31844290;31848261;31937595;32099016;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32522876;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33091337;33123756;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34315815;34357683;34373319;34433824;34509645;34516797;34561969;34624207;34725712;34932366;35008409;35051231;35138101;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36610391;37217939;37938771;38665916;39395807;40914422;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8647443;8706699;8890909;8943342;9045610;9074506;9211906;9431993;9482744;9582194;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). May play a role during erythropoiesis through regulation of transcription factor DDIT3 (By similarity)., [UniProtKB, HAMAP, PubMed, PubMed]; May play a role during erythropoiesis through regulation of transcription factor DDIT3., [UniProtKB, HAMAP, UniProtKB]; RPS3a as an essential component for LPS-mediated pro-inflammatory signaling, [RefSeq, PubMed]; Ribosomal protein eS1 is engaged in cellular events related to processing and functioning of U11 snRNA., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the gene encoding rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. This gene is co-transcribed with the U73A and U73B small nucleolar RNA genes, which are located in its fourth and third introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants have been found for this gene. [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "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": "B2R4D4;D3DP05;P33443;P49241", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0048027 mRNA 5'-UTR binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0030154 cell differentiation;GO:0043066 negative regulation of apoptotic process;GO:0006413 translational initiation;GO:0006412 translation;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 34.1, "record_id": "P61247-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96EP0-1", "uniprot_id": "RNF31_HUMAN", "mass": 119652.0, "length": 1072, "protein_name": "E3 ubiquitin-protein ligase RNF31", "gene_name": "RNF31", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF31 isoform 2", "refseq_ac": "NP_001297261", "gene_names_uniprotkb": "RNF31; ZIBRA", "gene_names_refseq": "HOIP; IMD115; Paul; RNF31; ZIBRA", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF31; 2.3.2.31; HOIL-1-interacting protein; HOIP; RING finger protein 31; RING-type E3 ubiquitin transferase RNF31; Zinc in-between-RING-finger ubiquitin-associated domain protein", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF31 isoform 2; E3 ubiquitin-protein ligase RNF31; HOIL-1-interacting protein; RING-type E3 ubiquitin transferase RNF31; zinc in-between-RING-finger ubiquitin-associated domain protein", "tax_id": 9606, "disease": "immunodeficiency 115 (Disease Ontology:DOID:0061081)", "pathway": " (hsa:55072); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956)", "pathway_count": 4, "publication_count": 146, "publication_id_list": "10521396;10837247;11098060;11181075;11237011;11427719;11577081;12167698;12709429;12721308;12887920;14716293;15024054;15093743;15258597;15870263;16260783;16282325;16603398;16682944;16829951;16829952;16953224;17006537;17314102;17702576;18178551;18220336;18669648;19136968;19278658;19289468;19416807;19910467;20005846;20185725;20219915;20304918;20385093;21235526;21408173;21455173;21455180;21455181;22179575;22297296;22430200;22435550;22848449;22863777;23186163;23313255;23481700;23708998;23746843;24098568;24246475;24275569;24323043;24715725;24726323;24726327;25565632;25576301;25645385;25892735;26008899;26154972;26344099;26900751;26992070;26997266;27090790;27307491;27458237;27545878;27552911;27572974;27591049;27600516;27777308;27846572;28189684;28481331;28506461;28832583;28920952;28920954;29242379;29437277;29493099;29508533;29557506;29632711;29642005;29769354;30146158;30315122;30361438;30420664;30779550;30936877;30988283;31366726;31511692;31844290;31937595;32157095;32161166;32320653;32350084;32387766;32502341;32938616;32983136;33141586;33298915;33469115;33592498;33717175;33912179;33968037;33981976;34012115;34087483;34162724;34171305;34211107;34357683;34363755;34876703;35051231;35294289;35318648;35941131;36010968;36241641;36581221;36581998;36997719;37395936;38172174;7531702;7667287;9049422;9065443", "class_list": "", "function": "E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation (PubMed:17006537, PubMed:19136968, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777, PubMed:28189684, PubMed:28481331). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways (PubMed:17006537, PubMed:19136968, PubMed:20005846, PubMed:21455173, PubMed:21455180, PubMed:21455181, PubMed:22863777, PubMed:28189684). Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation (PubMed:21455173, PubMed:28189684). LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex (PubMed:20005846, PubMed:27458237). The LUBAC complex is also involved in innate immunity by conjugating linear polyubiquitin chains at the surface of bacteria invading the cytosol to form the ubiquitin coat surrounding bacteria (PubMed:28481331, PubMed:34012115). LUBAC is not able to initiate formation of the bacterial ubiquitin coat, and can only promote formation of linear polyubiquitins on pre-existing ubiquitin (PubMed:28481331). Recruited to the surface of bacteria by RNF213, which initiates the bacterial ubiquitin coat (PubMed:34012115). The bacterial ubiquitin coat acts as an 'eat-me' signal for xenophagy and promotes NF-kappa-B activation (PubMed:28481331, PubMed:34012115). Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis (PubMed:23708998). RNF31 is required for linear ubiquitination of BCL10, thereby promoting TCR-induced NF-kappa-B activation (PubMed:27777308). Binds polyubiquitin of different linkage types (PubMed:23708998)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RNF31 promotes proliferation and invasion of hepatocellular carcinoma via nuclear factor kappaB activation. Publication Status: Online-Only, [RefSeq, PubMed]; RNF31 promotes tumorigenesis via inhibiting RIPK1 kinase-dependent apoptosis., [RefSeq, PubMed]; RNF31 represses cell progression and immune evasion via YAP/PD-L1 suppression in triple negative breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Resonance assignments of the PUB domain of the RNF31 protein., [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 20, "reported_glycation": 0, "reported_snv": 21, "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": "A0A962;Q86VI2;Q8TEI0;Q96GB4;Q96NF1;Q9H5F1;Q9NWD2", "ec_number_list": "2.7.11.10;2.7.11.1;2.7.11.25;3.4.19.12;2.3.2.-;2.3.2.23;2.3.2.27;2.3.2.31", "go_molecular_function": "GO:0036435 K48-linked polyubiquitin modification-dependent protein binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0009898 cytoplasmic side of plasma membrane;GO:0035631 CD40 receptor complex;GO:0071797 LUBAC complex", "go_biological_process": "GO:0097039 protein linear polyubiquitination;GO:0023035 CD40 signaling pathway;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0050852 T cell receptor signaling pathway;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q96EP0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NI35-1", "uniprot_id": "INADL_HUMAN", "mass": 196368.0, "length": 1801, "protein_name": "InaD-like protein", "gene_name": "PATJ", "organism": "Human", "refseq_name": "inaD-like protein isoform 1", "refseq_ac": "NP_795352", "gene_names_uniprotkb": "PATJ; CIPP; INADL", "gene_names_refseq": "Cipp; INADL; InaD-like; PATJ; hINADL", "protein_names_uniprotkb": "InaD-like protein; Channel-interacting PDZ domain-containing protein; Inadl protein; Pals1-associated tight junction protein; Protein associated to tight junctions; hINADL", "protein_names_refseq": "PALS1-associated tight junction protein; channel-interacting PDZ domain protein; channel-interacting PDZ domain-containing protein; inaD-like protein isoform 1; inactivation no after-potential D-like protein; inactivation-no-afterpotential D-like; protein associated to tight junctions", "tax_id": 9606, "disease": "sensorineural hearing loss (Disease Ontology:DOID:10003)", "pathway": " (hsa:10207); (R-HSA-420029); (R-HSA-9705677)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11374908;11447115;11927608;11964389;12021270;12527193;12953056;15241471;16129888;16678097;18596123;18669648;19755384;20068231;20861307;21406692;22006950;23186163;23481700;24275569;24715725;25576301;25645385;26154972;26992070;28228285;28832583;28834231;28904123;29242379;29493099;29557506;29786170;30192525;30379171;30484775;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32822073;32891874;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33864728;33936100;33968037;33981976;34087483;34106957;34117354;34171305;34211107;34405274;34509645;34932366;35051231;35259994;35318648;35580925;36010968;36215666;36241641;36284347;9280290", "class_list": "", "function": "MUC1 and Polarity Markers INADL and SCRIB Identify Salivary Ductal Cells., [RefSeq, PubMed]; Scaffolding protein that facilitates the localization of proteins to the cell membrane (PubMed:11927608, PubMed:16678097, PubMed:22006950). Required for the correct formation of tight junctions and epithelial apico-basal polarity (PubMed:11927608, PubMed:16678097). Acts (via its L27 domain) as an apical connector and elongation factor for multistranded TJP1/ZO1 condensates that form a tight junction belt, thereby required for the formation of the tight junction-mediated cell barrier (By similarity). Positively regulates epithelial cell microtubule elongation and cell migration, possibly via facilitating localization of PRKCI/aPKC and PAR3D/PAR3 at the leading edge of migrating cells (By similarity). Plays a role in the correct reorientation of the microtubule-organizing center during epithelial migration (By similarity). May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB]; Scaffolding protein that facilitates the localization of proteins to the cell membrane. Required for the correct formation of tight junctions and epithelial apico-basal polarity. Acts (via its L27 domain) as an apical connector and elongation factor for multistranded TJP1/ZO1 condensates that form a tight junction belt, thereby required for the formation of the tight junction-mediated cell barrier. Positively regulates epithelial cell microtubule elongation and cell migration, possibly via facilitating localization of PRKCI/aPKC and PAR3D/PAR3 at the leading edge of migrating cells. Plays a role in the correct reorientation of the microtubule-organizing center during epithelial migration. May regulate the surface expression and/or function of ASIC3 in sensory neurons. May recruit ARHGEF18 to apical cell-cell boundaries., [UniProtKB, UniProtKB]; This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O15249;O43742;O60833;Q5VUA5;Q5VUA6;Q5VUA7;Q5VUA8;Q5VUA9;Q5VUB0;Q8WU78;Q9H3N9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0030054 cell junction;GO:0045177 apical part of cell", "go_biological_process": "GO:0120192 tight junction assembly;GO:0035089 establishment of apical/basal cell polarity;GO:0035556 intracellular signal transduction;GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q8NI35-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P42702-1", "uniprot_id": "LIFR_HUMAN", "mass": 123743.0, "length": 1097, "protein_name": "Leukemia inhibitory factor receptor", "gene_name": "LIFR", "organism": "Human", "refseq_name": "leukemia inhibitory factor receptor isoform a precursor", "refseq_ac": "NP_001121143", "gene_names_uniprotkb": "LIFR", "gene_names_refseq": "CD118; LIF-R; LIFR; SJS2; STWS; SWS", "protein_names_uniprotkb": "Leukemia inhibitory factor receptor; LIF receptor; LIF-R", "protein_names_refseq": "CD118 antigen; LIF receptor alpha; leukemia inhibitory factor receptor alpha; leukemia inhibitory factor receptor isoform a precursor", "tax_id": 9606, "disease": "congenital anomalies of the kidney and urinary tract (Disease Ontology:DOID:0080205); osteochondrodysplasia (Disease Ontology:DOID:2256); Stve-Wiedemann syndrome 1 (MONDO:MONDO:0800043)", "pathway": " (hsa:3977); (R-HSA-6788467); (R-HSA-8939247)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10207087;10586060;10812968;10966616;11237011;11285233;11294841;11834704;11943154;12601009;12707266;12811586;14740318;14970218;1542794;15450249;15519241;16051226;16959974;18452278;18669648;18775332;1915266;19920145;20068231;21715184;23584533;24715725;26060100;2779549;29242379;29557506;30192525;30429286;32938616;33592498;33968037;34357683;35051231;35289036;36010968;36215666;36284347;36930708;37074911;37357760;38494064;38914806;39532904;7670098;7738033;7777512;7852997;7862649;7957045;8119965;8272873;8390097;8627290;8637716;9030543;9188471;9238703;9525740", "class_list": "", "function": "Bile acids serve as endogenous antagonists of the Leukemia inhibitory factor (LIF) receptor in oncogenesis., [RefSeq, PubMed]; Circular RNA circLIFR suppresses papillary thyroid cancer progression by modulating the miR-429/TIMP2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Could inhibit the biological activity of LIF by blocking its binding to receptors on target cells., [UniProtKB, UniProtKB]; Functions as a membrane-bound signal-transducing subunit either in complex with IL6ST/gp130 or as part of the ciliary neurotrophic factor receptor (CNTFR) complex composed by CNTFR, IL6ST/gp130 and LIFR (PubMed:11285233, PubMed:11294841, PubMed:1542794, PubMed:39532904, PubMed:9030543, PubMed:9188471). Signal transmission is initiated either by binding directly to cytokines, such as OSM or LIF or CTF1, or through the binding of other cytokines, like CNTF, CLCF1 or the heterodimeric complex CRLF1-CLCF1 to the non-signaling receptor CNTFR; ligand binding induces heterodimerization of IL6ST/gp130 and LIFR which activates JAK tyrosine kinases bound to their intracellular domains (PubMed:11285233, PubMed:11294841, PubMed:1542794, PubMed:1915266, PubMed:9030543, PubMed:9188471). These kinases subsequently phosphorylate the homodimer or heterodimer form of IL6ST/gp130 (PubMed:11285233, PubMed:11294841, PubMed:9030543). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activators of transcription (STATs) (PubMed:11285233, PubMed:11294841, PubMed:9030543, PubMed:9188471). Engages sites 3 of ligands cytokines (PubMed:36930708)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Role and mechanism of leukemia inhibitory factor receptor in cervical cancer invasion and metastasis., [RefSeq, PubMed]; This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the leukemia inhibitory factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 14, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 11, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 14, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 14, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 83, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 3, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "Q6LCD9", "ec_number_list": "", "go_molecular_function": "GO:0004923 leukemia inhibitory factor receptor activity;GO:0015026 coreceptor activity;GO:0019838 growth factor binding;GO:0019955 cytokine binding;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0070110 ciliary neurotrophic factor receptor complex;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0070120 ciliary neurotrophic factor-mediated signaling pathway;GO:0038165 oncostatin-M-mediated signaling pathway;GO:0007166 cell surface receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0034097 response to cytokine", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P42702-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBW8-1", "uniprot_id": "CSN7A_HUMAN", "mass": 30277.0, "length": 275, "protein_name": "COP9 signalosome complex subunit 7a", "gene_name": "COPS7A", "organism": "Human", "refseq_name": "COP9 signalosome complex subunit 7a", "refseq_ac": "NP_001157565", "gene_names_uniprotkb": "COPS7A; CSN7A; DERP10", "gene_names_refseq": "COPS7A; CSN7A; CSN7; SGN7a", "protein_names_uniprotkb": "COP9 signalosome complex subunit 7a; Dermal papilla-derived protein 10; JAB1-containing signalosome subunit 7a; SGN7a; Signalosome subunit 7a", "protein_names_refseq": "COP9 complex subunit 7a; COP9 constitutive photomorphogenic homolog subunit 7A; COP9 signalosome complex subunit 7a; JAB1-containing signalosome subunit 7a; dermal papilla-derived protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:50813); (R-HSA-5696394); (R-HSA-6781823); (R-HSA-8856825); (R-HSA-8951664)", "pathway_count": 5, "publication_count": 309, "publication_id_list": "10097102;10391953;10436022;10535940;10567358;10597293;10613896;10769163;10811609;10878807;10944529;10973499;10983987;11069780;11071885;11076969;11237011;11247302;11259415;11279143;11285227;11292861;11292862;11337588;11454738;11454741;11585840;11588219;11733065;11904382;11919637;11927540;11961546;11988742;12020345;12086608;12101228;12186903;12208738;12220626;12221107;12234931;12429842;12451172;12464600;12504025;12504026;12526791;12538644;12609982;12628923;12660172;12682069;12717448;12732143;12759363;12815074;12816948;12944386;12944396;12958364;1317852;14662753;14690597;14726597;14742321;14757770;15134832;15282312;1535555;15361859;15367669;15473838;15537541;15572695;15574592;15601839;15652483;15671180;15688063;15694336;15728179;15799966;15811629;15882621;15964821;16159959;16171779;16223728;16401342;16459302;16460808;16473935;16516836;16547496;16647857;16678110;16707496;16723738;16751180;16790436;16903783;16943200;17081101;17132228;17183367;17220875;17267500;17290000;17332328;17360967;17456551;17497243;17522231;17525332;17713526;17785452;17882165;17981804;18032517;18093314;18166656;18199683;18206966;18446792;18614043;18775313;18775314;18776931;18805092;18819912;18826954;18850735;18851830;18926707;19109893;19140243;19250909;19321346;19609301;19617556;1968060;19696798;19732400;19748355;19853559;20231386;20351096;20855601;21070792;21102408;21135142;21388382;21447816;21463634;21778237;21863050;21940857;21995445;22118460;22118466;22306028;22357968;22424782;22466610;22466611;22466612;22466964;22484487;22537386;22544926;2257624;22869377;22898188;22902626;22942912;22959436;23045548;23201271;23301498;23319653;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23783831;23912815;23986495;24076655;24127601;24186068;24366543;24384571;24636985;24680432;24715725;24746795;24793695;24793696;25154395;25314029;25349211;25355947;25435140;25531226;25576301;25645385;26154972;26344709;26403691;26456823;26460955;26632597;26829388;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27862975;27920218;28115426;28218747;28228285;28446606;28510447;28832583;28904123;2890644;29153394;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30524438;30610225;30779550;31222486;31530632;31844290;31848261;31937595;32005965;32157095;32284348;32350084;32355176;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33444648;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;3417785;34211107;34405274;34509645;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;7569928;7822302;8078911;8168482;8553074;8837779;8876179;9169477;9303539;9326587;9535219;9723620;9790970;9812899;9887101;9891082", "class_list": "", "function": "Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K9A6;Q9NVX3;Q9UJW4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0008180 COP9 signalosome", "go_biological_process": "GO:0045116 protein neddylation;GO:0010387 COP9 signalosome assembly;GO:0000338 protein deneddylation;GO:2000434 regulation of protein neddylation", "synthesized_glycan_count": 0, "hit_score": 31.2, "record_id": "Q9UBW8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PK6-1", "uniprot_id": "RBM14_HUMAN", "mass": 69492.0, "length": 669, "protein_name": "RNA-binding protein 14", "gene_name": "RBM14", "organism": "Human", "refseq_name": "RNA-binding protein 14 isoform 2", "refseq_ac": "NP_001185765", "gene_names_uniprotkb": "RBM14; SIP", "gene_names_refseq": "COAA; PSP2; RBM14; SIP; SYTIP1; TMEM137", "protein_names_uniprotkb": "RNA-binding protein 14; PSP2; Paraspeckle protein 2; RNA-binding motif protein 14; RRM-containing coactivator activator/modulator; SYT-interacting protein; Synaptotagmin-interacting protein", "protein_names_refseq": "RNA-binding protein 14 isoform 2; RRM-containing coactivator activator/modulator; SYT-interacting protein; paraspeckle protein 2; synaptotagmin-interacting protein; transmembrane protein 137", "tax_id": 9606, "disease": "", "pathway": " (hsa:100526737); (hsa:10432); (R-HSA-8941326)", "pathway_count": 3, "publication_count": 182, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11443112;11790299;14673176;15104674;15144186;15302935;15919756;15944288;16565220;17081983;17215250;17322306;17337438;17525332;17924679;18212344;18220336;18452278;18669648;18691976;18707149;18767875;19007248;19367720;19413330;19416963;19585539;19651622;19664995;19690332;19691289;20058876;20068230;20068231;20166139;20305658;21158410;21406692;22002106;22121020;22661428;23186163;23301498;23481700;23555621;23719902;24275569;24715725;25218447;25385835;25418920;25505266;25576301;25645385;25810538;25880248;25892735;26154972;26375851;26758079;26811146;26929215;26992070;27397612;27452731;27600516;27655845;27846572;27869121;27920218;28218747;28510447;28514659;28649982;28657654;28712728;28832583;28904123;29237092;29242379;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30059200;30315122;30379171;30410026;30429286;30524438;30573663;30620550;30784271;30833945;31154438;31217245;31222486;31373491;31492838;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32574038;32870666;32897882;32938616;32938750;32983136;33043033;33123756;33141586;33214551;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34229054;34357683;34433824;34509645;34561969;34725712;34846842;34925382;34932366;35051231;35132862;35138101;35154160;35251023;35254053;35289036;35513511;35561310;35580925;35705054;36010968;36215666;36284347;37340703;37541260;37548402;37806532;37930826;37938771;38341127;38665916;38678556;38838015;39302247;39531497;39534244;40136647;40307207;40596516;40914422", "class_list": "", "function": "Cloning of the coactivator CoAA gene., [RefSeq, PubMed]; CoAA regulates transcription-coupled alternative splicing., [RefSeq, PubMed]; Isoform 1 may function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1. Isoform 2, functions as a transcriptional repressor, modulating transcriptional activities of coactivators including isoform 1, NCOA6 and CITED1 (PubMed:11443112). Regulates centriole biogenesis by suppressing the formation of aberrant centriolar protein complexes in the cytoplasm and thus preserving mitotic spindle integrity. Prevents the formation of the STIL-CPAP complex (which can induce the formation of aberrant centriolar protein complexes) by interfering with the interaction of STIL with CPAP (PubMed:25385835). 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). Also involved in the regulation of pre-mRNA alternative splicing (PubMed:37548402)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; NONO promotes gallbladder cancer cell proliferation by enhancing oncogenic RNA splicing of DLG1 through interaction with IGF2BP3/RBM14., [RefSeq, PubMed]; O-GlcNAcylation of RBM14 contributes to elevated cellular O-GlcNAc through regulation of OGA protein stability., [RefSeq, PubMed]; RNA-binding protein 14 promotes phase separation to sustain prostate specific antigen expression under androgen deprivation in human prostate cancer., [RefSeq, PubMed]; The RNA-binding motif protein 14 regulates telomere integrity at the interface of TERRA and telomeric R-loops., [RefSeq, PubMed]; The switched alternative splicing of CoAA regulates stem cell differentiation., [RefSeq, PubMed]; This gene encodes a ribonucleoprotein that functions as a general nuclear coactivator, and an RNA splicing modulator. This protein contains two RNA recognition motifs (RRM) at the N-terminus, and multiple hexapeptide repeat domain at the C-terminus that interacts with thyroid hormone receptor-binding protein (TRBP), and is required for transcription activation. Alternatively spliced transcript variants encoding different isoforms (with opposing effects on transcription) have been described 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": 2, "reported_o_glycosites_with_glycan": 30, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 30, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 30, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 30, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 59, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 32, "binding_glycan_count": 0, "secondary_ac_list": "B0LM41;B3KMN4;D6RGD8;O75932;Q2PYN1;Q53GV1;Q68DQ9;Q96PK5", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:1990935 splicing factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0009725 response to hormone;GO:0002218 activation of innate immune response", "synthesized_glycan_count": 0, "hit_score": 21.9, "record_id": "Q96PK6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NYL5-1", "uniprot_id": "CP39A_HUMAN", "mass": 54116.0, "length": 469, "protein_name": "24-hydroxycholesterol 7-alpha-hydroxylase", "gene_name": "CYP39A1", "organism": "Human", "refseq_name": "24-hydroxycholesterol 7-alpha-hydroxylase isoform 2", "refseq_ac": "NP_001265667", "gene_names_uniprotkb": "CYP39A1", "gene_names_refseq": "CYP39A1", "protein_names_uniprotkb": "24-hydroxycholesterol 7-alpha-hydroxylase; 1.14.14.26; Cytochrome P450 39A1; Oxysterol 7-alpha-hydroxylase; hCYP39A1", "protein_names_refseq": "24-hydroxycholesterol 7-alpha-hydroxylase isoform 2; 24-hydroxycholesterol 7-alpha-hydroxylase; cytochrome P450, family 39, subfamily A, polypeptide 1; cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51302); (R-HSA-193775); (R-HSA-211976)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "10051404;10377398;10479480;10588945;10655068;10748047;10749848;11060344;11067870;11158055;11237011;11555828;11980911;12679481;1400444;14640697;15042513;1708392;1741400;19553612;19661213;20149798;2019602;21636783;2256920;22772592;24192117;25201972;25892735;2592361;26475344;29557506;3024157;3038528;31844290;32392803;33620406;34763023;3487786;35051231;35580925;36010968;7508385;7649182;8619637;9536209;9578606;9660774", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in neural cholesterol clearance through bile acid synthesis (PubMed:10748047, PubMed:25201972). Catalyzes 7-alpha hydroxylation of (24S)-hydroxycholesterol, a neural oxysterol that is metabolized to bile acids in the liver (PubMed:10748047, PubMed:25201972). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:10748047, PubMed:25201972)., [UniProtKB, PubMed, PubMed]; Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. Erratum:[JAMA. 2021 Apr 6;325(13):1335. doi: 10.1001/jama.2021.3920. PMID: 33821917], [RefSeq, PubMed]; Association of the CYP39A1 G204E Genetic Variant with Increased Risk of Glaucoma and Blindness in Patients with Exfoliation Syndrome., [RefSeq, PubMed]; GSTA1 and CYP39A1 were found to be associated with busulfan clearance. When combined, the two haplotypes explained 17% of the variability in busulfan clearance., [RefSeq, PubMed]; Orphan Nuclear Receptor RORalpha Regulates Enzymatic Metabolism of Cerebral 24S-Hydroxycholesterol through CYP39A1 Intronic Response Element Activation. Publication Status: Online-Only, [RefSeq, PubMed]; The CYP39A1 polymorphism rs7761731 may help to identify patients at high risk for treatment related toxicity. Publication Status: Online-Only, [RefSeq, PubMed]; The rs754203 SNP in CYP46A1 was associated with a risk for POAG. This polymorphism was not associated with changes in plasma 24S-hydroxycholesterol., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q5VTT0;Q96FW5", "ec_number_list": "1.14.14.26;1.14.14.29;1.14.14.23", "go_molecular_function": "GO:0008396 oxysterol 7-alpha-hydroxylase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0008395 steroid hydroxylase activity;GO:0033782 24S-hydroxycholesterol 7-alpha-hydroxylase activity", "go_cellular_component": "GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0042632 cholesterol homeostasis;GO:0007586 digestion;GO:0016125 sterol metabolic process;GO:0006707 cholesterol catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9NYL5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15906-1", "uniprot_id": "VPS72_HUMAN", "mass": 40594.0, "length": 364, "protein_name": "Vacuolar protein sorting-associated protein 72 homolog", "gene_name": "VPS72", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 72 homolog isoform 1", "refseq_ac": "NP_001258016", "gene_names_uniprotkb": "VPS72; TCFL1; YL1", "gene_names_refseq": "Swc2; TCFL1; VPS72; YL-1; YL1", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 72 homolog; Protein YL-1; Transcription factor-like 1", "protein_names_refseq": "transcription factor-like 1; transformation suppressor gene YL-1; vacuolar protein sorting-associated protein 72 homolog isoform 1; vacuolar protein sorting-associated protein 72 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:6944); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10786633;10821277;14966270;15313887;15647280;16387653;16959974;17525332;18381289;18623064;19187765;20018852;20068231;23186163;23481700;24275569;25576301;26974126;26992070;27600516;28228285;28832583;30315122;30524438;30833945;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32502341;32897882;32938616;32983136;33968037;33981976;34019948;34087483;34171305;34561969;35051231;35318648;35383533;35561310;35580925;36284347;36631007;37938771;38858662;7702631;9427644;9558366;9880483", "class_list": "", "function": "Deposition-and-exchange histone chaperone specific for H2AZ1, specifically chaperones H2AZ1 and deposits it into nucleosomes. As component of the SRCAP complex, mediates the ATP-dependent exchange of histone H2AZ1/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling., [UniProtKB, PubMed]; Prognostic marker VPS72 could promote the malignant progression of prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Results identify YL1 as a subunit of the TRRAP/TIP60 HAT complex, and also as a component of a novel mammalian multiprotein complex that includes the SNF2-related helicase SRCAP., [RefSeq, PubMed]; Targeting VPS72 inhibits ACTL6A/MYC axis activity in HCC progression., [RefSeq, PubMed]; The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional regulation, double strand DNA break repair and apoptosis. The SRCAP-containing complex catalyzes the exchange of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding H2AFZ, which has a role in chromosome segregation. This protein may also have a role in regulating long-term hematopoietic stem cell activity. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]., [RefSeq]; Vacuolar protein sorting-associated protein 72 homolog (VPS72) binding to lysine acetyltransferase 5 (KAT5) promotes the proliferation, invasion and migration of hepatocellular carcinoma through regulating phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT) signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NLK9;A6PW55;Q53GJ2;Q5U0R4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0042393 histone binding;GO:0140713 histone chaperone activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0000812 Swr1 complex;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q15906-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0F6-1", "uniprot_id": "SHRPN_HUMAN", "mass": 39949.0, "length": 387, "protein_name": "Sharpin", "gene_name": "SHARPIN", "organism": "Human", "refseq_name": "sharpin", "refseq_ac": "NP_112236", "gene_names_uniprotkb": "SHARPIN; PSEC0216; SIPL1", "gene_names_refseq": "AIFID; SHARPIN; SIPL1", "protein_names_uniprotkb": "Sharpin; Shank-associated RH domain-interacting protein; Shank-interacting protein-like 1; hSIPL1", "protein_names_refseq": "hSIPL1; shank-associated RH domain-interacting protein; shank-interacting protein-like 1; sharpin", "tax_id": 9606, "disease": "atopic dermatitis (Disease Ontology:DOID:3310); autoinflammation with episodic fever and immune dysregulation (MONDO:MONDO:0968982)", "pathway": " (hsa:81858); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956); (R-HSA-6794361)", "pathway_count": 5, "publication_count": 142, "publication_id_list": "10521396;10837247;11098060;11181075;11230166;11237011;11427719;11577081;11604393;12167698;12709429;12721308;12753155;12887920;14716293;15024054;15258597;15540461;15870263;16242404;16260783;16282325;16603398;16624946;16682944;16829951;16829952;16846852;16953224;17314102;17702576;17897391;18178551;18669648;18812509;18829961;18950845;19278658;19289468;19416807;19910467;20005846;20064387;20064388;20068231;20179993;20185725;20219915;20304918;20385093;20519524;21235526;21282647;21408173;21455173;21455180;21455181;22179575;22297296;22435550;22549881;22848449;23186163;23313255;23708998;23746843;24098568;24246475;24323043;24726323;24726327;25378172;25418920;25502872;25565632;25576301;26154972;26344099;26900751;26997266;27307491;27458237;27545878;27552911;27591049;28063628;28218747;28228285;28481331;28506461;28904123;28920952;28920954;29242379;29393594;29437277;29493099;29557506;29632046;29642005;30146158;30361438;30420664;30429286;30988283;31217245;31366726;31511692;31844290;32157095;32265295;32320653;32350084;32387766;32938616;33392484;33469115;33592498;33912179;34087483;34162724;34171305;34363755;34876703;35051231;35580925;35941131;35968603;36010968;37976837;38609546;39450547;7531702;7667287;7695896;7736595;8576240;9049422;9065443;9069287;9808458;9927700", "class_list": "", "function": "Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency., [RefSeq, PubMed]; Component of the LUBAC complex which conjugates linear polyubiquitin chains in a head-to-tail manner to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation (PubMed:21455173, PubMed:21455180, PubMed:21455181). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways (PubMed:21455173, PubMed:21455180, PubMed:21455181). Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation (PubMed:21455173, PubMed:21455180, PubMed:21455181). LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex (PubMed:21455173, PubMed:21455180, PubMed:21455181). The LUBAC complex is also involved in innate immunity by conjugating linear polyubiquitin chains at the surface of bacteria invading the cytosol to form the ubiquitin coat surrounding bacteria (PubMed:28481331). LUBAC is not able to initiate formation of the bacterial ubiquitin coat, and can only promote formation of linear polyubiquitins on pre-existing ubiquitin (PubMed:28481331). The bacterial ubiquitin coat acts as an 'eat-me' signal for xenophagy and promotes NF-kappa-B activation (PubMed:28481331). Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis (PubMed:23708998)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Mechanistic insights into the homo-dimerization of HOIL-1L and SHARPIN., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SHARPIN is a novel gene of colorectal cancer that promotes tumor growth potentially via inhibition of p53 expression., [RefSeq, PubMed]; SHARPIN promotes cell proliferation of cholangiocarcinoma and inhibits ferroptosis via p53/SLC7A11/GPX4 signaling., [RefSeq, PubMed]; Suggest that Sharpin is not an inert scaffold protein, but may play tumor-associated roles during cancer 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": 2, "reported_mutagensis": 7, "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": "A6NEG3;C0L3L2;D3DWL3;Q8IXF5;Q8IXF6;Q8N2E7;Q8TB25;Q9BUE4", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0004842 ubiquitin-protein transferase activity;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0045202 synapse;GO:0071797 LUBAC complex", "go_biological_process": "GO:0097039 protein linear polyubiquitination;GO:2000348 regulation of CD40 signaling pathway;GO:0050728 negative regulation of inflammatory response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9H0F6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0K1-1", "uniprot_id": "SIK2_HUMAN", "mass": 103915.0, "length": 926, "protein_name": "Serine/threonine-protein kinase SIK2", "gene_name": "SIK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase SIK2", "refseq_ac": "NP_056006", "gene_names_uniprotkb": "SIK2; KIAA0781; QIK; SNF1LK2", "gene_names_refseq": "LOH11CR1I; QIK; SIK-2; SIK2; SNF1LK2", "protein_names_uniprotkb": "Serine/threonine-protein kinase SIK2; 2.7.11.1; Qin-induced kinase; SIK-2; Salt-inducible kinase 2; Serine/threonine-protein kinase SNF1-like kinase 2", "protein_names_refseq": "SNF1-like kinase 2; qin-induced kinase; salt-inducible protein kinase 2; salt-inducible serine/threonine kinase 2; serine/threonine-protein kinase SIK2; serine/threonine-protein kinase SNF1-like kinase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23235)", "pathway_count": 1, "publication_count": 112, "publication_id_list": "11230166;14976552;15104674;15454081;17344846;17805301;18669648;19369195;19690332;20112406;20166139;21084751;22424782;22462548;23186163;23196462;23322770;23481700;24129571;24275569;24366607;24715725;25469497;25472719;25576301;25645385;25880248;25892735;26154972;26375851;26768311;26811146;26983400;26992070;27397612;27441650;27600516;27759007;27807598;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29485866;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;30586628;30779550;31092671;31154438;31222486;31530632;31794565;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35278271;35561310;35580925;36010968;36075517;36215666;36241641;36284347;37219665;37608474;37938771;37966164", "class_list": "", "function": "Inhibiting eukaryotic initiation factor 5A (eIF5A) hypusination attenuated activation of the SIK2 (salt-inducible kinase 2)-p4E-BP1 pathway involved in ovarian cancer cell proliferation and migration., [RefSeq, PubMed]; LKB1-SIK2 loss drives uveal melanoma proliferation and hypersensitivity to SLC8A1 and ROS inhibition. Erratum:[EMBO Mol Med. 2024 Sep;16(9):2262-2267. doi: 10.1038/s44321-024-00114-1. PMID: 39164473], [RefSeq, PubMed]; SIK2 promotes ovarian cancer cell motility and metastasis by phosphorylating MYLK., [RefSeq, PubMed]; SIK2 protects against renal tubular injury and the progression of diabetic kidney disease., [RefSeq, PubMed]; Salt-inducible kinases are required for glucose uptake and insulin signaling in human adipocytes., [RefSeq, PubMed]; Serine/threonine-protein kinase that plays a role in many biological processes such as fatty acid oxidation, autophagy, immune response or glucose metabolism (PubMed:23322770, PubMed:26983400). Phosphorylates 'Ser-794' of IRS1 in insulin-stimulated adipocytes, potentially modulating the efficiency of insulin signal transduction. Inhibits CREB activity by phosphorylating and repressing TORCs, the CREB-specific coactivators (PubMed:15454081). Phosphorylates EP300 and thus inhibits its histone acetyltransferase activity (PubMed:21084751, PubMed:26983400). In turn, regulates the DNA-binding ability of several transcription factors such as PPARA or MLXIPL (PubMed:21084751, PubMed:26983400). Also plays a role in thymic T-cell development (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K5B8;B0YJ94;O94878;Q17RV0;Q6AZE2;Q76N03;Q8NCV7;Q96CZ8", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0046777 protein autophosphorylation;GO:1904294 positive regulation of ERAD pathway;GO:0046626 regulation of insulin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q9H0K1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HAJ7-1", "uniprot_id": "SP30L_HUMAN", "mass": 20877.0, "length": 183, "protein_name": "Histone deacetylase complex subunit SAP30L", "gene_name": "SAP30L", "organism": "Human", "refseq_name": "histone deacetylase complex subunit SAP30L isoform 2", "refseq_ac": "NP_001124534", "gene_names_uniprotkb": "SAP30L; NS4ATP2", "gene_names_refseq": "NS4ATP2; SAP30L", "protein_names_uniprotkb": "Histone deacetylase complex subunit SAP30L; HCV non-structural protein 4A-transactivated protein 2; Sin3 corepressor complex subunit SAP30L; Sin3-associated protein p30-like", "protein_names_refseq": "HCV non-structural protein 4A-transactivated protein 2; Sin3A associated protein p30-like; histone deacetylase complex subunit SAP30L isoform 2; histone deacetylase complex subunit SAP30L; sin3 corepressor complex subunit SAP30L; sin3-associated protein p30-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:79685); (R-HSA-3214815); (R-HSA-427413); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 74, "publication_id_list": "10087012;10444591;10449787;10471499;10748112;10904264;10922406;10926844;11509652;11739383;11742974;11909966;12032298;12724404;14610093;14680513;16115318;16484223;16522641;16820529;17081983;17211407;17355984;17662961;18070604;18452278;18669648;19015240;19651622;19690332;19838300;20068231;20223979;21587264;22401777;22552008;22814904;23481700;23641311;24272870;24584101;25576301;25801024;25916849;26002965;26101246;26609676;27862975;27920218;28425720;28832583;29242379;29557506;29632711;29945920;30201761;30429286;30599235;31048504;31154438;31611695;31844290;32157095;32357974;33298915;33592498;33912179;34019948;35580925;7513682;7597036;9150135;9651585;9790534", "class_list": "", "function": "Functions as a transcription repressor, probably via its interaction with histone deacetylase complexes (PubMed:16820529, PubMed:18070604). Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the nucleolus (PubMed:16820529). Binds DNA, apparently without sequence-specificity, and bends bound double-stranded DNA (PubMed:19015240). Binds phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate) via the same basic sequence motif that mediates DNA binding and nuclear import (PubMed:19015240, PubMed:26609676)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Functions as a transcription repressor; isoform 2 has lower transcription repressor activity than isoform 1 and isoform 3., [UniProtKB, PubMed]; Functions as a transcription repressor; its activity is marginally lower than that of isoform 1., [UniProtKB, PubMed]; Results show that expression of SAP30L was negatively associated with that of SAP30L-AS1 in prostate cancer specimens. Its expression is directly repressed by SAP30L-AS1 in prostate neoplasm. Also, SAP30L overexpression attenuated the roles of SAP30L-AS1 in prostate cancer proliferation and apoptosis., [RefSeq, PubMed]; SAP30L, a nuclear protein, is upregulated by transforming growth factor-beta in intestinal epithelial cells Publication Status: Online-Only, [RefSeq, PubMed]; Upon oxidative stress SAP30L undergoes the formation of two specific disulfide bonds, a vicinal Cys29-Cys30 and Cys38-Cys74, with a concomitant release of the coordinated zinc ion. The oxidized protein was shown to remain folded in solution and to bind signaling phospholipids., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "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": "E9PAU7;E9PAY2", "ec_number_list": "", "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0070273 phosphatidylinositol-4-phosphate binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001650 fibrillar center;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902455 negative regulation of stem cell population maintenance;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9HAJ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A087X1C5-1", "uniprot_id": "CP2D7_HUMAN", "mass": 57489.0, "length": 515, "protein_name": "Cytochrome P450 2D7", "gene_name": "CYP2D7", "organism": "Human", "refseq_name": "cytochrome P450 2D7", "refseq_ac": "NP_001335315", "gene_names_uniprotkb": "CYP2D7", "gene_names_refseq": "CYP2D7AP; CYP2D7P1; CYP2D7P; CYP2D7; CYP2D@; CYP2D; P450C2D; P450DB1; RNA40057", "protein_names_uniprotkb": "Cytochrome P450 2D7; 1.14.14.1", "protein_names_refseq": "Putative cytochrome P450 2D7; cytochrome P450 2D7; cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1; cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 1; cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing) cluster", "tax_id": 9606, "disease": "calcium oxalate nephrolithiasis (Disease Ontology:DOID:0080652); traumatic brain injury (Disease Ontology:DOID:0081292); Sturge-Weber syndrome (Disease Ontology:DOID:0111563); spondylometaphyseal dysplasia corner fracture type (Disease Ontology:DOID:0112297); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); diabetic angiopathy (Disease Ontology:DOID:11713); iron deficiency anemia (Disease Ontology:DOID:11758); submandibular gland disease (Disease Ontology:DOID:12897); VACTERL association (Disease Ontology:DOID:14679); renovascular hypertension (Disease Ontology:DOID:1591); depressive disorder (Disease Ontology:DOID:1596); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); glomerulonephritis (Disease Ontology:DOID:2921); IgA glomerulonephritis (Disease Ontology:DOID:2986); acute kidney failure (Disease Ontology:DOID:3021); renal cell carcinoma (Disease Ontology:DOID:4450); ureteral obstruction (Disease Ontology:DOID:5199); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); osteoarthritis (Disease Ontology:DOID:8398); diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:1564)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "15051713;16169517;17494644;18838503;29557506;30040020;31154438;37938771;39060884", "class_list": "", "function": "Association Between CYP2D7 and TCF20 Polymorphisms and Coronary Heart Disease., [RefSeq, PubMed]; May be responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It may be involved in the metabolism of codeine to morphine (PubMed:15051713). However, another study could not confirm it (PubMed:18838503)., [UniProtKB, PubMed, PubMed]; The loss of the stop codon in CYP2D7 does not result in the generation of enzymatically active protein in human liver., [RefSeq, PubMed]; This gene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is a segregating pseudogene, where some individuals may have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. In this case, the functional allele is thought to be rare. This locus is part of a cluster of cytochrome P450 genes on chromosome 22. [provided by RefSeq, Jan 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 22, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6XP50", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.14.75;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130", "go_molecular_function": "GO:0070330 aromatase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0042178 xenobiotic catabolic process;GO:0019369 arachidonate metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A0A087X1C5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78356-1", "uniprot_id": "PI42B_HUMAN", "mass": 47378.0, "length": 416, "protein_name": "Phosphatidylinositol 5-phosphate 4-kinase type-2 beta", "gene_name": "PIP4K2B", "organism": "Human", "refseq_name": "phosphatidylinositol 5-phosphate 4-kinase type-2 beta", "refseq_ac": "NP_003550", "gene_names_uniprotkb": "PIP4K2B; PIP5K2B", "gene_names_refseq": "PI5P4KB; PIP4K2B; PIP5K2B; PIP5KIIB; PIP5KIIbeta; PIP5P4KB", "protein_names_uniprotkb": "Phosphatidylinositol 5-phosphate 4-kinase type-2 beta; 1-phosphatidylinositol 5-phosphate 4-kinase 2-beta; 2.7.1.149; Diphosphoinositide kinase 2-beta; PI(5)P 4-kinase type II beta; PIP4KII-beta; Phosphatidylinositol 5-phosphate 4-kinase type II beta; PtdIns(5)P-4-kinase isoform 2-beta", "protein_names_refseq": "1-phosphatidylinositol 5-phosphate 4-kinase 2-beta; 1-phosphatidylinositol-4-phosphate kinase; PI(5)P 4-kinase type II beta; PIP4KII-beta; PTDINS(4)P-5-kinase; diphosphoinositide kinase 2-beta; phosphatidylinositol 5-phosphate 4-kinase type II beta; phosphatidylinositol 5-phosphate 4-kinase type-2 beta; phosphatidylinositol-4-phosphate 5-kinase, type II, beta", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:8396); (R-HSA-1660499); (R-HSA-6811555); (R-HSA-6811558); (R-HSA-8847453)", "pathway_count": 5, "publication_count": 146, "publication_id_list": "10.1101/2023.09.13.557529;10194451;10224048;10555148;10559940;10593988;10698683;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;12859901;1325671;14516276;14617813;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;16024799;16154996;16399794;16456541;16476736;16522682;16914545;16949365;16979564;17008356;17200115;17245604;17651088;17940011;18093523;18669648;18691976;18753295;19038970;19369195;19576174;19608861;19896968;20058876;20068231;20534812;20583997;21204784;22037487;22223895;22647598;23193159;23301498;23481700;23519112;23758345;24714562;25418920;25495341;25576301;25645385;26774281;26929215;26992070;28228285;28514659;28832583;28834231;29242379;29393594;29493099;29508533;29557506;30315122;31091439;31844290;32157095;32350084;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33936100;33968037;34105348;34171305;34185709;34357683;34405274;34509645;35051231;35251023;35580925;36010968;36241641;36856076;36918565;36982700;40914422;7608176;7624799;8681945;8723348;8769125;9038203;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9753329;9811831;9830063", "class_list": "", "function": "Autoantibodies against PIP4K2B and AKT3 Are Associated with Skin and Lung Fibrosis in Patients with Systemic Sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Functional molecular evolution of a GTP sensing kinase: PI5P4Kbeta., [RefSeq, PubMed]; PIP4K2B is mechanoresponsive and controls heterochromatin-driven nuclear softening through UHRF1. Publication Status: Online-Only, [RefSeq, PubMed]; Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate (PubMed:26774281, PubMed:9038203). Preferentially utilizes GTP, rather than ATP, for PI(5)P phosphorylation and its activity reflects changes in direct proportion to the physiological GTP concentration (PubMed:26774281). Its GTP-sensing activity is critical for metabolic adaptation (PubMed:26774281). PIP4Ks negatively regulate insulin signaling through a catalytic-independent mechanism. They interact with PIP5Ks and suppress PIP5K-mediated PtdIns(4,5)P2 synthesis and insulin-dependent conversion to PtdIns(3,4,5)P3 (PubMed:31091439)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "Q5U0E8;Q8TBP2", "ec_number_list": "2.7.1.68;2.7.1.149;2.7.12.2;5.2.1.8", "go_molecular_function": "GO:0016309 1-phosphatidylinositol-5-phosphate 4-kinase activity;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0042803 protein homodimerization 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:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0007166 cell surface receptor signaling pathway;GO:0010506 regulation of autophagy;GO:2000786 positive regulation of autophagosome assembly;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "P78356-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BV90-1", "uniprot_id": "SNR25_HUMAN", "mass": 15270.0, "length": 132, "protein_name": "U11/U12 small nuclear ribonucleoprotein 25 kDa protein", "gene_name": "SNRNP25", "organism": "Human", "refseq_name": "U11/U12 small nuclear ribonucleoprotein 25 kDa protein", "refseq_ac": "NP_078847", "gene_names_uniprotkb": "SNRNP25; C16orf33", "gene_names_refseq": "C16orf33; SNRNP25", "protein_names_uniprotkb": "U11/U12 small nuclear ribonucleoprotein 25 kDa protein; Minus-99 protein; U11/U12 snRNP 25 kDa protein; U11/U12-25K", "protein_names_refseq": "U11/U12 small nuclear ribonucleoprotein 25 kDa protein; U11/U12 snRNP 25 kDa protein; U11/U12 snRNP 25K; minus-99 protein; small nuclear ribonucleoprotein 25kDa (U11/U12); small nuclear ribonucleoprotein, U11/U12 25kDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:79622); (R-HSA-72165)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10207048;11237011;11333026;11607023;15146077;16728641;17940139;19052544;24714562;2524422;25300797;26992070;27510544;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29769354;30429286;31530632;31844290;32157095;32357974;32502341;33537174;33592498;33717175;34171305;34932366;35051231;8835860", "class_list": "", "function": "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]; Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q1W6H3;Q6IEF8;Q9H5W4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005689 U12-type spliceosomal complex;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome;GO:0000388 spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BV90-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43347-1", "uniprot_id": "MSI1H_HUMAN", "mass": 39125.0, "length": 362, "protein_name": "RNA-binding protein Musashi homolog 1", "gene_name": "MSI1", "organism": "Human", "refseq_name": "RNA-binding protein Musashi homolog 1 isoform a", "refseq_ac": "NP_002433", "gene_names_uniprotkb": "MSI1", "gene_names_refseq": "MSI1", "protein_names_uniprotkb": "RNA-binding protein Musashi homolog 1; Musashi-1", "protein_names_refseq": "RNA-binding protein Musashi homolog 1 isoform a; RNA-binding protein Musashi homolog 1; musashi-1; musashi1", "tax_id": 9606, "disease": "autosomal dominant limb-girdle muscular dystrophy type 3 (Disease Ontology:DOID:0110306); brain ischemia (Disease Ontology:DOID:2316); brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:4440); (R-HSA-9010553)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11237011;11896183;12054577;16959974;19413330;19664995;19706539;21406692;23217742;23746841;25242263;25888190;28228285;28904123;29237092;30833945;31844290;31848261;32157095;33912179;34105348;35138101;36010968;36995659;36996499;37481823;37607966;37858462;37938771;9790759", "class_list": "", "function": "Association between Musashi1 and the development of liver cancer, [RefSeq, PubMed]; Dysregulated Stem Cell Markers Musashi-1 and Musashi-2 are Associated with Therapy Resistance in Inflammatory Breast Cancer., [RefSeq, PubMed]; Exosomal Circ_FMN2 Derived from the Serum of Colorectal Cancer Patients Promotes Cancer Progression by miR-338-3p/MSI1 Axis. Erratum:[Appl Biochem Biotechnol. 2024 Jun;196(6):3673. doi: 10.1007/s12010-023-04722-4. PMID: 37755641], [RefSeq, PubMed]; Increased expression of musashi 1 on breast cancer cells has implication to understand dormancy and survival in bone marrow., [RefSeq, PubMed]; RNA binding protein that regulates the expression of target mRNAs at the translation level. Regulates expression of the NOTCH1 antagonist NUMB. Binds RNA containing the sequence 5'-GUUAGUUAGUUAGUU-3' and other sequences containing the pattern 5'-[GA]U(1-3)AGU-3'. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity)., [UniProtKB]; Short C-terminal Musashi-1 proteins regulate pluripotency states in embryonic stem cells., [RefSeq, PubMed]; The oncogene Musashi1 encodes novel miRNAs in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q96PU0;Q96PU1;Q96PU2;Q96PU3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0008266 poly(U) RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006417 regulation of translation;GO:0007399 nervous system development;GO:0030855 epithelial cell differentiation;GO:0007417 central nervous system development;GO:0009725 response to hormone", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "O43347-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13393-1", "uniprot_id": "PLD1_HUMAN", "mass": 124184.0, "length": 1074, "protein_name": "Phospholipase D1", "gene_name": "PLD1", "organism": "Human", "refseq_name": "phospholipase D1 isoform a", "refseq_ac": "NP_002653", "gene_names_uniprotkb": "PLD1", "gene_names_refseq": "CVDD; CVDP1; PLD1", "protein_names_uniprotkb": "Phospholipase D1; 3.1.4.4; Choline phosphatase 1; PLD 1; Phosphatidylcholine-hydrolyzing phospholipase D1; hPLD1", "protein_names_refseq": "choline phosphatase 1; phosphatidylcholine-hydrolyzing phospholipase D1; phospholipase D1 isoform a; phospholipase D1, phosphatidylcholine-specific", "tax_id": 9606, "disease": "developmental cardiac valvular defect (Disease Ontology:DOID:0080633); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498)", "pathway": " (hsa:5337); (R-HSA-1483148); (R-HSA-1483166); (R-HSA-2029485); (R-HSA-6798695); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013408)", "pathway_count": 9, "publication_count": 459, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10224668;10232922;10441128;10455175;10464238;10490598;10506173;10508610;10523665;10523675;10526156;10553003;10559246;10579713;10579907;10619026;10652265;10681567;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11031251;11032811;11058585;11085924;11112443;11149925;11207612;11237011;11306516;11373293;11396949;11425868;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11749377;11756552;11773441;11788596;11803464;11804587;11804589;11804590;11830583;11864571;11884391;11912491;11948177;11961559;11967128;12063250;12071859;12093360;12096337;12161451;12172552;12177196;12195014;12221077;12221096;12351724;12359733;12376551;12432077;12464619;12522102;12531887;12546821;12547822;12650940;12660731;12665586;12773384;12857875;12860998;12869549;12877655;12907671;12923183;12963729;14506234;14512443;14514689;14573790;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15161916;15260990;15294978;15302923;15304341;15339924;15342493;15367102;15485661;15507211;15536084;15579468;15601624;15611138;15728722;15809313;15850391;15858067;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16339170;16460752;16467373;16473593;16492808;16495223;16497229;16507994;16519628;16620771;16630611;16636067;16678913;16702231;16704971;16714282;16762923;16776779;16777452;16777849;16862148;16864775;16896804;16914516;16968698;17027967;17028579;17064668;17077126;17081983;17145773;17170135;17196961;17214551;17244649;17562871;17583407;17590538;17599059;17702745;17707131;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18238778;18249095;18347018;18363964;18396277;18426980;18550821;18653540;18669648;18718904;18786931;18829452;18835169;18838382;18929667;19269969;19336658;19494238;19581409;19605563;19635168;19651622;19666841;19673492;19713215;19934221;20030946;20101212;20231899;20400958;20460433;20591975;20628200;20660154;20679435;20705608;20810653;21148482;21173190;21351730;21454492;21542010;21565175;21613211;21621533;21641550;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22777291;22911862;22922100;22970203;22992742;23176821;23176823;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23650620;23707487;23718289;23739916;23807634;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24659802;24859002;24933155;24960694;24966474;24996924;25024229;25211221;25428919;25502872;25704760;25721503;25795300;25862245;25892735;25936805;25963737;26129894;26154972;26299518;26371245;26375851;26529257;26598554;26711011;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27799408;27806292;27862975;27986909;28028151;28112683;28114311;28196833;28228285;28446606;28467828;28514659;28584191;28649982;28825699;28832583;28860633;29089502;29146911;29242379;2925608;29317506;29358323;29382922;29393594;29508533;29557506;29560412;29632046;29769354;30061681;30315122;30429286;30853411;31092671;31105010;31217245;31492838;31844290;31871319;32157095;32203420;32350084;32387766;32488085;32502341;32897882;32938616;33141586;33392160;33592498;33717175;33968037;34171305;34357683;34405274;34433824;34561969;3458202;34932366;35051231;35154160;35251023;35318648;35494241;35580925;36010968;36241641;36284347;3718705;37381714;37498407;38275747;38885836;7060561;7476457;7479768;7512369;7517665;7559638;7673236;7721814;7753201;7821823;7835339;8021274;8107774;8163052;8186247;8228618;8300559;8380172;8530346;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8657103;8662891;8670801;8687421;8692836;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9140189;9188469;9212163;9268338;9305890;9405671;9407135;9418861;9438849;9461603;9490638;9497316;9535835;9548756;9582072;9582313;9659915;9670022;9761774;9792683;9822598;9822605;9829970;9843499;9846874;9973503;9988689", "class_list": "", "function": "A positive feedback loop between PLD1 and NF-kappaB signaling promotes tumorigenesis of nasopharyngeal carcinoma., [RefSeq, PubMed]; Function as phospholipase selective for phosphatidylcholine (PubMed:25936805, PubMed:8530346, PubMed:9582313). Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Lipopolysaccharide Stimulates A549 Cell Migration through p-Tyr 42 RhoA and Phospholipase D1 Activity. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear PLD1 combined with NPM1 induces gemcitabine resistance through tumorigenic IL7R in pancreatic adenocarcinoma., [RefSeq, PubMed]; Raf/MEK/ERK Signaling Pathway Is Involved in the Inhibition of Glioma Cell Proliferation and Invasion in the Ketogenic Microenvironment., [RefSeq, PubMed]; This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "2.7.11.1;3.4.24.81;3.1.4.4;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;2.7.11.39;7.1.1.2;2.3.1.20;2.3.1.76;3.4.21.73;3.6.5.2;1.6.3.-;3.1.3.48;3.1.2.-;7.6.2.-;2.7.10.1;1.14.14.18;2.1.2.1;2.7.1.153;2.7.1.137;2.7.10.2;1.2.1.5;1.2.1.28;1.2.1.7;1.2.1.48;3.6.4.-;3.4.24.-;7.6.2.1;3.2.2.6;1.1.1.-;3.1.4.39;2.7.11.13;2.7.11.25;2.3.2.27;1.16.1.-;2.3.1.78;2.3.1.-;3.1.16.1;3.1.4.-", "go_molecular_function": "GO:0004630 phospholipase D activity;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0031670 cellular response to nutrient;GO:0006654 phosphatidic acid biosynthetic process;GO:0006935 chemotaxis;GO:0009395 phospholipid catabolic process;GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 46.6, "record_id": "Q13393-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZA2-1", "uniprot_id": "RPGF4_HUMAN", "mass": 115522.0, "length": 1011, "protein_name": "Rap guanine nucleotide exchange factor 4", "gene_name": "RAPGEF4", "organism": "Human", "refseq_name": "rap guanine nucleotide exchange factor 4 isoform b", "refseq_ac": "NP_001093867", "gene_names_uniprotkb": "RAPGEF4; CGEF2; EPAC2", "gene_names_refseq": "CAMP-GEFII; CGEF2; EPAC 2; EPAC2; EPAC; Nbla00496; RAPGEF4", "protein_names_uniprotkb": "Rap guanine nucleotide exchange factor 4; EPAC 2; Exchange factor directly activated by cAMP 2; Exchange protein directly activated by cAMP 2; cAMP-GEFII; cAMP-regulated guanine nucleotide exchange factor II", "protein_names_refseq": "RAP guanine-nucleotide-exchange factor (GEF) 4; Rap guanine nucleotide exchange factor (GEF) 4; cAMP-regulated guanine nucleotide exchange factor II; exchange factor directly activated by cAMP 2; exchange protein directly activated by cAMP 2; putative protein product of Nbla00496; rap guanine nucleotide exchange factor 4 isoform b", "tax_id": 9606, "disease": "autistic disorder (Disease Ontology:DOID:12849)", "pathway": " (hsa:11069); (R-HSA-354192); (R-HSA-381676); (R-HSA-392517); (R-HSA-422356)", "pathway_count": 5, "publication_count": 166, "publication_id_list": "10194514;10206966;10318832;10342826;10424882;10446041;10526167;10773014;10777494;10866047;10868950;10896934;10964917;11071853;11078440;11078469;11237011;11264248;11476890;11577798;11707077;11716850;11780755;11815450;11815460;11815462;11815463;11873862;11940607;12034449;12180908;12196472;12401793;12403834;12410638;12475777;12475787;12496249;12684222;12764427;12887316;12938160;1309948;13459201;13680124;14514350;14754902;14988243;15000528;15157149;15305887;15334074;15469846;15504896;15569269;15572341;15585596;15632203;15678092;15955806;15995848;16005629;16040750;16076873;16115959;16332676;16443778;16513675;16556766;16613879;16714477;16757337;16868246;16919435;16973695;17021801;17095603;17218263;1722201;17259518;17306374;17380317;17444618;17624957;17660294;17900700;17919183;18039662;18162464;18202100;18287102;18346985;18412318;18434644;1846040;18577758;18596924;19587354;19859570;19861722;20086079;22424782;23481700;23992284;26308095;26517901;28228285;29108130;29242379;29393594;29557506;30315122;30429286;31067468;31154438;31844290;32157095;32387766;32502341;33141586;33298248;34087483;34205489;34509645;34512170;34685730;35051231;3517644;35580925;35834616;37938771;3923453;6019353;6424440;6435940;7513017;7589461;7589840;7593639;7641683;7929812;8027028;8138058;8253074;8404634;8405712;8457197;8631894;8675920;8755247;8830891;8987985;8997178;9115221;9346962;9350615;9351824;9417641;9488697;9726229;9739505;9751501;9789079;9856955;9914469;9920805", "class_list": "", "function": "Broad Impact of Exchange Protein Directly Activated by cAMP 2 (EPAC2) on Respiratory Viral Infections. Publication Status: Online-Only, [RefSeq, PubMed]; EPAC Regulates Melanoma Growth by Stimulating mTORC1 Signaling and Loss of EPAC Signaling Dependence Correlates with Melanoma Progression., [RefSeq, PubMed]; Epac: new emerging cAMP-binding protein. Review article, [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by binding cAMP. Does not seem to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction with RIMS2 (By similarity)., [UniProtKB, PubMed, PubMed]; Origin and Isoform Specific Functions of Exchange Proteins Directly Activated by cAMP: A Phylogenetic Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Pancreatic cancer-derived exosomal microRNA-19a induces beta-cell dysfunction by targeting ADCY1 and EPAC2. 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": 29, "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": "B2R7R3;B7Z283;B7Z3T6;B7Z912;O95636;Q8IXK6;Q8TAA4", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0030552 cAMP binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0098686 hippocampal mossy fiber to CA3 synapse", "go_biological_process": "GO:0032486 Rap protein signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0032024 positive regulation of insulin secretion;GO:0002250 adaptive immune response;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "Q8WZA2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75683-1", "uniprot_id": "SURF6_HUMAN", "mass": 41450.0, "length": 361, "protein_name": "Surfeit locus protein 6", "gene_name": "SURF6", "organism": "Human", "refseq_name": "surfeit locus protein 6 isoform 2", "refseq_ac": "NP_001265871", "gene_names_uniprotkb": "SURF6; SURF-6", "gene_names_refseq": "RRP14; SURF6", "protein_names_uniprotkb": "Surfeit locus protein 6", "protein_names_refseq": "surfeit locus protein 6 isoform 2; surfeit locus protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:6838)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "10675619;11891058;17924679;18669648;18691976;19007248;19413330;19664995;19691289;20068231;21406692;23186163;24715725;25576301;26154972;26992070;27600516;27846572;28228285;28832583;29242379;29483575;29493099;29508533;29557506;29786170;30315122;30429286;31092671;31154438;31844290;31848261;32157095;32161166;32357974;32387766;32897882;32938616;32983136;33119830;33141586;33298915;33392160;33537174;33592498;33691108;33936100;33968037;33981976;34087483;34211107;34405274;34509645;34932366;35051231;35561310;35580925;37450438;37938771", "class_list": "", "function": "A Higher Level of Expression of the Nucleolar Protein SURF6 in Human Normal Activated Lymphocytes and in Lymphocytes of Patients with Lymphoproliferative Disorders., [RefSeq, PubMed]; Binds to both DNA and RNA in vitro, with a stronger binding capacity for RNA. May represent a nucleolar constitutive protein involved in ribosomal biosynthesis or assembly (By similarity)., [UniProtKB]; Human nucleolar protein SURF6/RRP14 participates in early steps of pre-rRNA processing. Publication Status: Online-Only, [RefSeq, PubMed]; NPM1 and SURF6 form heterotypic liquid-like droplets in the nucleolus. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T8U1;Q9BRK9;Q9BTZ5;Q9UK24", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005694 chromosome;GO:0001652 granular component", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O75683-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P63313-1", "uniprot_id": "TYB10_HUMAN", "mass": 5026.0, "length": 44, "protein_name": "Thymosin beta-10", "gene_name": "TMSB10", "organism": "Human", "refseq_name": "thymosin beta-10", "refseq_ac": "NP_066926", "gene_names_uniprotkb": "TMSB10; PTMB10; THYB10", "gene_names_refseq": "MIG12; TB10; TMSB10", "protein_names_uniprotkb": "Thymosin beta-10", "protein_names_refseq": "migration-inducing gene 12; migration-inducing protein 12; thymosin beta-10", "tax_id": 9606, "disease": "", "pathway": " (hsa:9168)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;18077418;18669648;19531498;19608861;19651622;19664994;2169566;22645359;22869377;23186163;23584533;24029068;24714562;24715725;25502872;25813380;26154972;26375851;26728094;26768311;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30192525;30410026;30429286;30524438;30833945;31020640;31154438;31222486;31530632;31611695;31844290;31998317;32157095;32319572;32350084;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33141586;33349268;33592498;3365256;33686397;33717175;33936100;33968037;34019948;34087483;34433824;34561969;34932366;35051231;35154160;35251023;35318648;35414502;35580925;36241641;36284347;37938771;38026448;8425765", "class_list": "", "function": "PTEN/AKT upregulation of TMSB10 contributes to lung cancer cell growth and predicts poor survival of the patients., [RefSeq, PubMed]; Plays an important role in the organization of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerization (By similarity)., [UniProtKB]; TMSB10 Promotes Progression of Clear Cell Renal Cell Carcinoma via JUN Transcription Regulation., [RefSeq, PubMed]; TMSB10 acts as a biomarker and promotes progression of clear cell renal cell carcinoma., [RefSeq, PubMed]; The Clinical Relevance and Functional Implications of Thymosin Beta-10 in Glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Thymosin beta10 promotes tumor-associated macrophages M2 conversion and proliferation via the PI3K/Akt pathway in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "P13472;Q596K9", "ec_number_list": "", "go_molecular_function": "GO:0003785 actin monomer binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005856 cytoskeleton", "go_biological_process": "GO:0007015 actin filament organization;GO:0030334 regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P63313-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H832-1", "uniprot_id": "UBE2Z_HUMAN", "mass": 38210.0, "length": 354, "protein_name": "Ubiquitin-conjugating enzyme E2 Z", "gene_name": "UBE2Z", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 Z", "refseq_ac": "NP_075567", "gene_names_uniprotkb": "UBE2Z; HOYS7", "gene_names_refseq": "HOYS7; UBE2Z; USE1", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 Z; 2.3.2.23; E2 ubiquitin-conjugating enzyme Z; Uba6-specific E2 conjugating enzyme 1; Ubiquitin carrier protein Z; Ubiquitin-protein ligase Z; Use1", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme Z; UBA6-specific enzyme E2; uba6-specific E2 conjugating enzyme 1; ubiquitin carrier protein Z; ubiquitin conjugating enzyme E2Z; ubiquitin-conjugating enzyme E2 Z; ubiquitin-protein ligase Z", "tax_id": 9606, "disease": "", "pathway": " (hsa:65264); (R-HSA-8866652); (R-HSA-983168)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16142244;16595681;16849449;16954532;17160626;17464193;17580310;17597759;18353650;18662542;19028597;19352404;19452197;19489725;19651622;19851334;19874575;19940261;20068231;2261476;23481700;25576301;25880248;25892735;26235645;26375851;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28510447;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29789417;30315122;30779550;30833945;31092671;31154438;31222486;31831168;31844290;32127821;32157095;32161166;32357974;32392439;32488085;32502341;32938616;32983136;33298915;33592498;33691108;33968037;33981976;34019948;34087483;34357683;34932366;35051231;35318648;35580925;36010968;36241641;36284347;40914422;6277905;6305978;7851534;8010951;9380723;9521656;9668046", "class_list": "", "function": "Association between the UBE2Z rs46522 and TCF7L2 rs7903146 polymorphisms with type 2 diabetes in south western Iran., [RefSeq, PubMed]; Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). Specific substrate for UBA6, not charged with ubiquitin by UBE1. May be involved in apoptosis regulation., [UniProtKB, PubMed, UniProtKB, PubMed]; In tissue culture cells, Uba6 is required for charging a previously uncharacterized Uba6-specific E2 (Use1), whereas Ube1 is required for charging the cell-cycle E2s Cdc34A and Cdc34B, [RefSeq, PubMed]; This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]., [RefSeq]; UBE2Z gene rs46522 polymorphism is associated with abnormal metabolic parameters in Mexican patients with MI, [RefSeq, PubMed]; UBE2Z was widely expressed in human tissues and is located on chromosome 17q21., [RefSeq, PubMed]; Upregulation of ubiquitin-conjugating enzyme E2Z is associated with human 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": 8, "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": "A6N8M6;A6NC60;Q7L354;Q8TCM4;Q9H893", "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:0060090 molecular adaptor activity;GO:0005524 ATP binding;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9H832-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95406-1", "uniprot_id": "CNIH1_HUMAN", "mass": 16699.0, "length": 144, "protein_name": "Protein cornichon homolog 1", "gene_name": "CNIH1", "organism": "Human", "refseq_name": "protein cornichon homolog 1", "refseq_ac": "NP_005767", "gene_names_uniprotkb": "CNIH1; CNIH; CNIL; PRO181", "gene_names_refseq": "CNIH-1; CNIH1; CNIH; CNIL; TGAM77", "protein_names_uniprotkb": "Protein cornichon homolog 1; CNIH-1; Cornichon family AMPA receptor auxiliary protein 1; Protein cornichon homolog; T-cell growth-associated molecule 77; TGAM77", "protein_names_refseq": "T-cell growth-associated molecule 77; cornichon family AMPA receptor auxiliary protein 1; cornichon homolog; protein cornichon homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10175); (R-HSA-204005); (R-HSA-5694530)", "pathway_count": 3, "publication_count": 97, "publication_id_list": "10209299;10445031;10559958;10559959;10652252;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12235121;12237308;12975309;15037235;16129679;16303754;16495487;16624868;16912714;17005010;17010120;17038314;17192411;17287728;17316621;17499046;17562788;17607000;17684057;18025080;18283111;18287528;18843296;19164740;19265014;19269366;19566487;19638414;19656848;20427317;20477988;20533886;20545907;20679433;20805473;20966969;21478858;21525241;21532587;21689688;21878990;22013193;22157747;22211840;22675024;23103966;23378591;23479643;23481700;23698585;23852824;23864707;24119662;24917561;25202031;25406594;25492864;25586378;25619252;25619253;25892735;29242379;29769354;30779550;31844290;33592498;33968037;33981976;35051231;36241641;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9395526;9472029;9647643", "class_list": "", "function": "Human CNIH and Drosophila Cni are primarily localized in the endoplasmic reticulum and associate with immature TGFalpha family proteins; alterations of cornichon expression result in changes in transport, processing and secretion of TGFalpha proteins, [RefSeq, PubMed]; Involved in the selective transport and maturation of TGF-alpha family proteins., [UniProtKB, PubMed]; Significant upregulation of CNIH-1 mRNA expression was found in schizophrenia., [RefSeq, PubMed]; The modulation of AMPA receptors by CNIH-2 depends upon the Transmembrane AMPA receptor regulatory protein isoform composition within the receptor complex, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "Q3SYM7", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005789 endoplasmic reticulum membrane;GO:0012507 ER to Golgi transport vesicle membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0007165 signal transduction;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O95406-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02511-1", "uniprot_id": "CRYAB_HUMAN", "mass": 20159.0, "length": 175, "protein_name": "Alpha-crystallin B chain", "gene_name": "CRYAB", "organism": "Human", "refseq_name": "alpha-crystallin B chain isoform 1", "refseq_ac": "NP_001276736", "gene_names_uniprotkb": "CRYAB; CRYA2; HSPB5", "gene_names_refseq": "CMD1II; CRYA2; CRYAB; CTPP2; CTRCT16; HEL-S-101; HSPB5; MFM2A; MFM2B; MFM2", "protein_names_uniprotkb": "Alpha-crystallin B chain; Alpha(B)-crystallin; Heat shock protein beta-5; Heat shock protein family B member 5; HspB5; Renal carcinoma antigen NY-REN-27; Rosenthal fiber component", "protein_names_refseq": "alpha-crystallin B chain isoform 1; alpha-crystallin B chain; epididymis secretory protein Li 101; heat shock protein beta-5; heat shock protein family B member 5; heat-shock 20 kD like-protein; renal carcinoma antigen NY-REN-27; rosenthal fiber component", "tax_id": 9606, "disease": "adult-onset myofibrillar myopathy 2A (Disease Ontology:DOID:0080093); infantile-onset myofibrillar myopathy-2B (Disease Ontology:DOID:0080309); Charcot-Marie-Tooth disease axonal type 2L (Disease Ontology:DOID:0110174); cataract 16 multiple types (Disease Ontology:DOID:0110250); dilated cardiomyopathy 1II (Disease Ontology:DOID:0110450); autosomal dominant distal hereditary motor neuronopathy 2 (Disease Ontology:DOID:0111206); macular degeneration (Disease Ontology:DOID:4448); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:1410); (R-HSA-3371571)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10217480;10508479;10751411;10930324;11158243;11237011;11369851;11447121;11549345;11577372;12060738;12601044;1407707;14676215;14681890;15270074;1560006;15699121;15760475;16483541;16793013;17216044;1730617;18587492;19464326;19646995;20166139;20535031;20836128;21337604;21866213;21920752;22120592;22768106;22890888;23271734;23542032;23559016;2387586;23950959;24275569;25208129;2539261;26620801;27641668;28470624;28493373;28657654;28939839;29385708;29557506;30014472;30379171;30920888;31492838;31729431;31786107;31844290;32157095;32272059;32650630;32938616;33043033;33592498;33723378;33936100;35254053;35580925;37196088;37938771;38787373;38879081;38973199;7498159;8142454;8175657;838078;8455624;8639509;8999933;9731540", "class_list": "", "function": "Alpha crystallin is a moonlighting protein that functions as a heat shock protein as well as a lens crystallin. Review article, [RefSeq, PubMed]; CRYAB suppresses ferroptosis and promotes osteogenic differentiation of human bone marrow stem cells via binding and stabilizing FTH1., [RefSeq, PubMed]; Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]., [RefSeq]; May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. In lens epithelial cells, stabilizes the ATP6V1A protein, preventing its degradation by the proteasome (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Modulation of Alzheimer's Disease Abeta40 Fibril Polymorphism by the Small Heat Shock Protein alphaB-Crystallin., [RefSeq, PubMed]; TGFbeta1-Induced Fibrotic Responses of Conjunctival Fibroblasts through the Wnt/beta-Catenin/CRYAB Signaling Pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 2, "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": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B0YIX0;O43416;Q9UC37;Q9UC38;Q9UC39;Q9UC40;Q9UC41", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0032387 negative regulation of intracellular transport;GO:0006936 muscle contraction;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0042542 response to hydrogen peroxide", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P02511-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53667-1", "uniprot_id": "LIMK1_HUMAN", "mass": 72585.0, "length": 647, "protein_name": "LIM domain kinase 1", "gene_name": "LIMK1", "organism": "Human", "refseq_name": "LIM domain kinase 1 isoform 2", "refseq_ac": "NP_001191355", "gene_names_uniprotkb": "LIMK1; LIMK", "gene_names_refseq": "LIMK-1; LIMK1; LIMK", "protein_names_uniprotkb": "LIM domain kinase 1; 2.7.11.1; LIMK-1", "protein_names_refseq": "LIM domain kinase 1 isoform 2; LIM motif-containing protein kinase", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": " (hsa:3984); (R-HSA-2029482); (R-HSA-3928662); (R-HSA-399954); (R-HSA-416572); (R-HSA-5627117); (R-HSA-5627123)", "pathway_count": 7, "publication_count": 202, "publication_id_list": "10047984;10075701;10092231;10196227;10219243;10436159;10470034;10496324;10559936;10639334;10652353;10724160;10748018;10781580;10878810;10975528;10995436;10995437;11018042;11058585;11134074;11157975;11231582;11237011;11276226;11278486;11329366;11331307;11340065;11340081;11413130;11553796;11580899;11604131;11747816;11804587;11829459;11832213;11854399;11942626;12055636;12105426;12185584;12189515;12196628;12198493;12213210;12220504;12235133;12453877;12546821;12702722;12730235;12743368;12807904;12963706;14530263;14580336;14676198;14759258;14988728;15000491;15040784;15210733;15378014;15378065;15452139;15548136;15657136;15660133;15721239;16204230;16219803;16230460;16262445;16298995;16456544;16546099;16641196;16702231;16854367;16880808;17151359;17188549;17192257;17202194;17308335;17344846;17440041;17548511;18025083;18028908;18332102;18391171;18459146;18669648;18691976;18707149;18829550;19289088;19369195;19413330;19513348;19553453;19664994;19696021;19741094;19955216;20068231;20444238;21098037;21297993;21419341;21682918;21923909;2201922;22214762;22270398;22328514;22886629;23161543;23186163;23481700;23633677;23702034;24166499;24715725;24859002;25418920;25527205;25576301;25714010;25884247;26154972;26811146;27846572;27920218;28063628;28514659;28581515;28649982;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;2966156;29786170;30315122;30410026;3079756;31154438;31217245;31530632;31652302;31844290;31848261;32157095;32387766;32585314;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34686503;34932366;35051231;35580925;36010968;36241641;37626839;37633900;3839510;7478585;7559638;7848918;8107774;8183554;8662509;8689688;8702756;8809042;8812460;8986718;9354661;9535855;9600938;9683637;9705280;9799231;9843499;9883880;9885284", "class_list": "", "function": "Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Has a dominant negative effect on actin cytoskeletal changes. Required for atypical chemokine receptor ACKR2-induced phosphorylation of cofilin (CFL1)., [UniProtKB, PubMed]; Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics. Acts downstream of several Rho family GTPase signal transduction pathways (PubMed:10436159, PubMed:11832213, PubMed:12807904, PubMed:15660133, PubMed:16230460, PubMed:18028908, PubMed:22328514, PubMed:23633677). Activated by upstream kinases including ROCK1, PAK1 and PAK4, which phosphorylate LIMK1 on a threonine residue located in its activation loop (PubMed:10436159). LIMK1 subsequently phosphorylates and inactivates the actin binding/depolymerizing factors cofilin-1/CFL1, cofilin-2/CFL2 and destrin/DSTN, thereby preventing the cleavage of filamentous actin (F-actin), and stabilizing the actin cytoskeleton (PubMed:11832213, PubMed:15660133, PubMed:16230460, PubMed:23633677). In this way LIMK1 regulates several actin-dependent biological processes including cell motility, cell cycle progression, and differentiation (PubMed:11832213, PubMed:15660133, PubMed:16230460, PubMed:23633677). Phosphorylates TPPP on serine residues, thereby promoting microtubule disassembly (PubMed:18028908). Stimulates axonal outgrowth and may be involved in brain development (PubMed:18028908)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The Activation of the LIMK/Cofilin Signaling Pathway via Extracellular Matrix-Integrin Interactions Is Critical for the Generation of Mature and Vascularized Cardiac Organoids. Publication Status: Online-Only, [RefSeq, PubMed]; The Diagnostic and Prognostic Value of LIMK1/2: A Pan-Cancer Analysis., [RefSeq, PubMed]; There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 25, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6I8;D3DXF4;D3DXF5;O15283;Q15820;Q15821;Q75MU3;Q9Y5Q1", "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;3.6.4.10;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;2.3.1.-;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:0031072 heat shock protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0032233 positive regulation of actin filament bundle assembly;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "P53667-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P43034-1", "uniprot_id": "LIS1_HUMAN", "mass": 46638.0, "length": 410, "protein_name": "Platelet-activating factor acetylhydrolase IB subunit beta", "gene_name": "PAFAH1B1", "organism": "Human", "refseq_name": "platelet-activating factor acetylhydrolase IB subunit beta", "refseq_ac": "NP_000421", "gene_names_uniprotkb": "PAFAH1B1; LIS1; MDCR; MDS; PAFAHA", "gene_names_refseq": "LIS1; LIS2; MDCR; MDS; NudF; PAFAH1B1; PAFAH", "protein_names_uniprotkb": "Platelet-activating factor acetylhydrolase IB subunit beta; LIS-1; Lissencephaly-1 protein; PAF acetylhydrolase 45 kDa subunit; PAF-AH 45 kDa subunit; PAF-AH alpha; PAFAH alpha", "protein_names_refseq": "lissencephaly 1 protein; platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa); platelet-activating factor acetylhydrolase IB subunit beta", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); Miller-Dieker lissencephaly syndrome (Disease Ontology:DOID:0060469); lissencephaly 1 (Disease Ontology:DOID:0112237); status epilepticus (Disease Ontology:DOID:1824); schizophrenia (Disease Ontology:DOID:5419); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:5048); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5663220); (R-HSA-6811436); (R-HSA-68877); (R-HSA-8854518); (R-HSA-9648025)", "pathway_count": 16, "publication_count": 262, "publication_id_list": "10359595;10411507;10441340;10559986;10562278;10600384;10678165;10958683;11001923;11076968;11080672;11081627;11163258;11181178;11237011;11371342;11483508;11502906;11509732;11535616;11804586;11889140;11940666;11956313;12006501;12194817;12207013;12221128;12364337;12401177;12429848;12432908;12447383;12556484;12577064;12679384;12732141;12805219;12852856;12852857;12925777;13678582;14580337;14581661;14654843;14730319;14962739;14970193;15006353;15007136;15085137;15173193;15339662;15483056;15498487;15507212;15705883;15723797;15737063;15864301;15866170;15914536;15944396;16207721;16292343;16314391;16357211;16408927;16439214;16462731;16541025;16622419;16622420;16682347;16890155;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;1737036;17488286;17574030;17646400;17693683;17719545;17827179;18001770;18037885;18097444;18378770;18477460;18521620;18566290;18615013;18641641;18664496;18694559;18716626;18801063;18923426;19004860;19081074;19350017;19608861;19635840;19696148;19753100;19815554;19940019;19965387;20030946;20101212;20230748;20308558;20399632;20420828;20558667;20591975;21111234;21148482;21173190;21273506;21347367;21397845;21422230;21548880;21565611;21576392;21620453;21725307;21792235;21868368;21878504;21987589;22094460;22094468;22130221;22159412;22179047;22275430;22365832;22433857;22562055;22608513;22641346;22645359;22653444;22790947;22885700;22956769;23097494;23141531;23141541;23186163;23222643;23253480;23333653;23348840;23400999;23481700;23530209;23747070;23769972;23783758;23789104;23801653;23921553;24053599;24089205;24231678;24366607;24469809;24891604;24914801;24982133;25047611;25233431;25313408;25453831;25502872;25532896;25576301;25645385;25740311;25789526;25880248;25892735;26154972;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29371260;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;31409757;31844290;32157095;32350084;32357974;32897882;32938616;32983136;33214551;33298915;33402344;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34260926;34509645;34725712;34932366;35051231;35251023;35580925;36010968;36274587;36284347;38364333;38547289;38665916;7769006;7790358;8355785;8838651;9030515;9050864;9063735;9649308;9649503;9671731;9733780;9892021", "class_list": "", "function": "Clinical analysis of PAFAH1B1 gene variants in pediatric patients with epilepsy., [RefSeq, PubMed]; Lis1-dynein drives corona compaction and limits erroneous microtubule attachment at kinetochores., [RefSeq, PubMed]; Molecular mechanism of dynein-dynactin complex assembly by LIS1., [RefSeq, PubMed]; Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. Also required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position., [UniProtKB, HAMAP, UniProtKB, UniProtKB, UniProtKB]; Regulatory subunit (beta subunit) of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)), an enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and participates in PAF inactivation. Regulates the PAF-AH (I) activity in a catalytic dimer composition-dependent manner (By similarity). Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769). May modulate the Reelin pathway through interaction of the PAF-AH (I) catalytic dimer with VLDLR (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed]; This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7Q7;Q8WZ88;Q8WZ89", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0051219 phosphoprotein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0000235 astral microtubule;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0008090 retrograde axonal transport;GO:0007611 learning or memory;GO:0008344 adult locomotory behavior;GO:0045931 positive regulation of mitotic cell cycle;GO:0050885 neuromuscular process controlling balance", "synthesized_glycan_count": 0, "hit_score": 26.5, "record_id": "P43034-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NS73-1", "uniprot_id": "MBIP1_HUMAN", "mass": 39281.0, "length": 344, "protein_name": "MAP3K12-binding inhibitory protein 1", "gene_name": "MBIP", "organism": "Human", "refseq_name": "MAP3K12-binding inhibitory protein 1 isoform 2", "refseq_ac": "NP_001138363", "gene_names_uniprotkb": "MBIP; BM-015", "gene_names_refseq": "MBIP", "protein_names_uniprotkb": "MAP3K12-binding inhibitory protein 1; MAPK upstream kinase-binding inhibitory protein; MUK-binding inhibitory protein", "protein_names_refseq": "MAP3K12-binding inhibitory protein 1 isoform 2; MAPK upstream kinase-binding inhibitory protein; MUK-binding inhibitory protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51562); (R-HSA-3214847); (R-HSA-9772755)", "pathway_count": 3, "publication_count": 151, "publication_id_list": "10786633;10801814;10821277;11237011;12393701;12482972;12670868;12750860;14636557;14992727;15199122;15313887;16227571;16239140;16387653;16829959;16878130;16892064;17355966;17500065;17612494;17671196;17925232;17998332;18381289;18452278;18598942;18623064;18669648;18691976;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19187765;19556245;20018852;20068231;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;22266653;22327296;22652693;22665483;23186163;23481700;23508102;23995757;24244196;24366607;24368734;24397554;24680668;24714562;25218447;25505266;25561738;25576301;25593305;25645385;25755297;26324722;26375851;26705305;26728094;26811146;26886794;26992070;27563068;27698142;27760318;27920218;28063628;28182322;28228285;28398509;28832583;28834231;28904123;29138278;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29897600;29937342;30315122;30379171;30779550;30833945;31154438;31217245;31222486;31400120;31485071;31530632;31544921;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32963352;32983136;33141586;33298915;33592498;33657400;33691108;33717175;33912179;33936100;33968037;33981976;34012049;34087483;34171305;34509645;34932366;34933446;35033534;35051231;35190547;35439434;35561310;35580925;36010968;36284347;36581221;37938771;40596516;9427644;9558366;9880483", "class_list": "", "function": "Functions as part of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4 (PubMed:19103755). Inhibits the MAP3K12 activity to induce the activation of the JNK/SAPK pathway (PubMed:10801814). Together with MOCS2B, inhibits the activity of stress kinase EIF2AK2/PKR; this may lead to effects such as suppression of JNK activation and subsequent stress-responsive transcription, or suppression of eIF2a phosphorylation to favor translation (PubMed:26705305)., [UniProtKB, PubMed, PubMed, PubMed]; MBIP (MAP3K12 binding inhibitory protein) drives NSCLC metastasis by JNK-dependent activation of MMPs., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86TZ2;Q96AS5;Q9BS93;Q9NZE1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0004860 protein kinase inhibitor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0072686 mitotic spindle;GO:0140672 ATAC complex", "go_biological_process": "GO:0090043 regulation of tubulin deacetylation;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;GO:0046330 positive regulation of JNK cascade", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q9NS73-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51608-1", "uniprot_id": "MECP2_HUMAN", "mass": 52441.0, "length": 486, "protein_name": "Methyl-CpG-binding protein 2", "gene_name": "MECP2", "organism": "Human", "refseq_name": "methyl-CpG-binding protein 2 isoform 2", "refseq_ac": "NP_001104262", "gene_names_uniprotkb": "MECP2", "gene_names_refseq": "AUTSX3; MECP2; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT", "protein_names_uniprotkb": "Methyl-CpG-binding protein 2; MeCp-2 protein; MeCp2", "protein_names_refseq": "meCp-2 protein; methyl-CpG-binding protein 2 isoform 2", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); syndromic X-linked intellectual disability Lubs type (Disease Ontology:DOID:0060799); X-linked intellectual disability-psychosis-macroorchidism syndrome (Disease Ontology:DOID:0060827); severe congenital encephalopathy due to MECP2 mutation (Disease Ontology:DOID:0111932); Rett syndrome (Disease Ontology:DOID:1206); autistic disorder (Disease Ontology:DOID:12849); Angelman syndrome (Disease Ontology:DOID:1932); transient cerebral ischemia (Disease Ontology:DOID:224); hepatocellular carcinoma (Disease Ontology:DOID:684); gastrointestinal system disease (Disease Ontology:DOID:77); autism, susceptibility to, X-linked 3 (MONDO:MONDO:0010342)", "pathway": " (hsa:4204)", "pathway_count": 1, "publication_count": 107, "publication_id_list": "10369871;10508514;10518942;10577905;10723722;10745042;10767337;10814719;10944854;10986043;10991688;10991689;11007980;11055898;11237011;11238684;11241840;11269512;11283202;11309367;11376998;11402105;11706982;11738883;11805248;11885030;11896461;12111644;12161600;12325019;12384770;12567420;12615169;12770674;12872250;12966522;12966523;15034150;15034579;15057977;15302935;15917271;16080119;16932552;16966553;17081983;17171659;17296936;18452278;18669648;18773074;19034540;19367720;19413330;19608861;19651622;19690332;19820693;20058876;20068231;20657584;21406692;22615490;23186163;23662938;23770587;24275569;25818041;25880248;26154972;26993267;27245166;27323888;27442528;27616658;27864847;28348241;28367114;28616777;28657654;28709814;29351928;29428602;29493099;29557506;29632711;29786170;30379171;30429286;31844290;32157095;32502341;32983136;33918872;33968037;34040059;34773221;35051231;35580925;36284347;37938771;39232000;40596516;40914422;8672133;8976388;9710633", "class_list": "", "function": "Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]., [RefSeq]; Data suggest the important involvement of the N-terminus in the function of MeCP2 protein, and provide further evidence for the major impact of a specific MeCP2e_1 deficiency in the development of intellectual processing., [RefSeq, PubMed]; Description of a previously unknown MeCP2 isoform Erratum:[Nat Genet. 2004 May;36(5):540], [RefSeq, PubMed]; Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons. Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphisms within exon 1 of MECP2 occur in females with mental retardation. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144(7):969. Srivistava, Anand K [corrected to Srivastava, Anand K]], [RefSeq, PubMed]; Rett syndrome is caused by heterozygosity for mutations in the X-linked gene MECP2, which encodes methyl-CpG binding protein 2. 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": 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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O15233;Q6QHH9;Q7Z384", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007219 Notch signaling pathway;GO:0008306 associative learning;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "P51608-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19784-1", "uniprot_id": "CSK22_HUMAN", "mass": 41213.0, "length": 350, "protein_name": "Casein kinase II subunit alpha'", "gene_name": "CSNK2A2", "organism": "Human", "refseq_name": "casein kinase II subunit alpha'", "refseq_ac": "NP_001887", "gene_names_uniprotkb": "CSNK2A2; CK2A2", "gene_names_refseq": "CK2A2; CK2alpha'; CSNK2A1; CSNK2A2", "protein_names_uniprotkb": "Casein kinase II subunit alpha'; 2.7.11.1; CK II alpha'", "protein_names_refseq": "CK II alpha'; casein kinase 2 alpha'; casein kinase 2, alpha prime polypeptide; casein kinase II subunit alpha'", "tax_id": 9606, "disease": "male infertility (Disease Ontology:DOID:12336); endometrial cancer (Disease Ontology:DOID:1380); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); porphyria cutanea tarda (Disease Ontology:DOID:3132); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:1459); (R-HSA-1483191); (R-HSA-201688); (R-HSA-2514853); (R-HSA-445144); (R-HSA-6804756); (R-HSA-6814122); (R-HSA-8934903); (R-HSA-8939243); (R-HSA-8948751); (R-HSA-9755511); (R-HSA-9768727); (R-HSA-9828806); (R-HSA-9929491); (R-HSA-9931530)", "pathway_count": 15, "publication_count": 298, "publication_id_list": "10100195;10191259;10435622;10500146;10517632;10535959;10570149;10604467;10611478;10673500;10673501;10677542;10698942;10710310;10790862;10818153;10884347;10893425;11035045;11068039;11136719;11165242;11232563;11237011;11239457;11420179;11425858;11447225;11511362;11546806;11551930;11698453;11704824;11740489;11780126;11818547;12055623;12064478;12198130;12216837;12221122;12297295;12393879;12456642;12556519;12631575;12700136;12702766;12851404;12914926;14517290;14585973;14607834;14688281;14702041;14718570;14750904;14764894;14973250;15053879;15146063;15175005;15459103;15572404;15597056;15715662;15800623;15866171;15889144;15911624;15983046;16171404;16193064;16286508;16322561;16359182;16702223;16717095;16917507;16962933;16965538;17007874;17066080;17108107;17158099;17218260;17253643;17261850;17344846;17349958;17356064;17512459;17561512;17569865;17591690;17979524;18222703;18238777;18273910;18490454;18491227;18555990;18691976;18694939;18695000;18772438;18977199;19121998;19193990;19345329;19369195;19376773;19387549;19387550;19387551;19387552;19387553;19473982;19481522;19561074;19608861;19729658;19805222;19915674;19965871;20305658;20338778;20378532;20452972;20495340;20506188;20545769;20712405;20959462;21220506;21241709;21285348;21317932;21391649;21482717;21498573;21532586;21734707;2174700;21926997;22177953;22267086;22325351;22325354;22375065;22427670;22789539;22872865;2295682;23000554;23186163;23274085;23328280;23419514;23485397;23637185;23676219;23901139;23954936;24011591;24145406;24270891;24298019;24367090;24671035;24681004;24714562;24732803;24746696;24828044;24874608;24966173;25040165;25547115;25576301;25659125;25675501;25793262;25880248;25892735;25921531;26005868;26048993;26117325;26154972;26183061;26280536;26416966;26583321;26768311;26811421;26942676;26945070;26992070;27255086;27600516;27846572;28063628;28228285;28380357;28512129;28657654;28821867;28832583;28834231;28855257;28904123;29233872;29242379;29314611;29393594;29450944;29493099;29508533;29526543;29557506;29632046;29632711;29769354;29784789;29786170;30315122;30429286;3057511;30610225;30898438;31217245;31530632;31546975;31844290;32157095;32284348;32293500;32350084;32357974;32387766;32488085;32502341;32640524;32672401;32897882;32938616;32938750;32983136;33009401;33392160;33592498;33717175;33791708;33859744;33912179;33936100;33981976;34019948;34087483;34171305;34185709;34357683;34561969;34932366;35051231;35132862;35138101;35251023;35385574;35467332;35580925;35597237;36010968;36198437;36241641;36284347;37217939;37268061;37907238;38132153;38334665;38665916;38807597;40596516;40914422;7744250;7982500;8388392;8509458;8592152;9153422;9192851;9214626;9396761;9593753;9774278;9925639", "class_list": "", "function": "CSNK2A2 promotes hepatocellular carcinoma progression through activation of NF-kappaB pathway., [RefSeq, PubMed]; Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cell cycle-dependent gene networks for cell proliferation activated by nuclear CK2alpha complexes. Publication Status: Online-Only, [RefSeq, PubMed]; Protein Kinase CK2alpha', More than a Backup of CK2alpha. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase CK2alpha is overexpressed in classical hodgkin lymphoma, regulates key signaling pathways, PD-L1 and may represent a new target for therapy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the alpha', or alpha 2, catalytic subunit of the protein kinase enzyme, casein kinase 2 (CK2). Casein kinase 2 is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. This heterotetrameric kinase includes two catalytic subunits, either alpha or alpha', and two regulatory beta subunits. The closely related gene paralog encoding the alpha, or alpha 1 subunit (CSNK2A1, Gene ID: 1457) is found on chromosome 20. An intronic variant in this gene (alpha 2) may be associated with leukocyte telomere length in a South Asian population. A related transcribed pseudogene is found on chromosome 11. [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": 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": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "2.7.11.1;2.3.2.-;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.-;3.1.3.16;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.1.3.67;3.1.3.-;3.1.3.48;3.1.3.53;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0001669 acrosomal vesicle;GO:0000785 chromatin", "go_biological_process": "GO:1905818 regulation of chromosome separation;GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 30.2, "record_id": "P19784-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14939-1", "uniprot_id": "PLD2_HUMAN", "mass": 105987.0, "length": 933, "protein_name": "Phospholipase D2", "gene_name": "PLD2", "organism": "Human", "refseq_name": "phospholipase D2 isoform PLD2B", "refseq_ac": "NP_001230037", "gene_names_uniprotkb": "PLD2", "gene_names_refseq": "PLD1C; PLD2", "protein_names_uniprotkb": "Phospholipase D2; 3.1.4.4; Choline phosphatase 2; PLD 2; PLD1C; Phosphatidylcholine-hydrolyzing phospholipase D2; hPLD2", "protein_names_refseq": "choline phosphatase 2; phosphatidylcholine-hydrolyzing phospholipase D2; phospholipase D2 isoform PLD2B", "tax_id": 9606, "disease": "developmental cardiac valvular defect (Disease Ontology:DOID:0080633); renal cell carcinoma (Disease Ontology:DOID:4450); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:5338); (R-HSA-1483148); (R-HSA-1483166); (R-HSA-2029485); (R-HSA-9013149); (R-HSA-9013404)", "pathway_count": 6, "publication_count": 363, "publication_id_list": "10224668;10232922;10455175;10464238;10490598;10506173;10508610;10523665;10523675;10526156;10553003;10559246;10579713;10579907;10681567;10699171;10699464;10847683;10873802;10958683;11007481;11031251;11032811;11058585;11085924;11112443;11145705;11149925;11237011;11373293;11396949;11425868;11431473;11432776;11584276;11672528;11704860;11707441;11749377;11756552;11773441;11788596;11803464;11804587;11804589;11804590;11830583;11884391;11912491;11919634;11961559;12063250;12071859;12093360;12096337;12161451;12195014;12221096;12351724;12359733;12432077;12522102;12531887;12546821;12547822;12650940;12660731;12665586;12857875;12869549;12877655;12923183;12963729;14512443;14514689;14573790;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15161916;15169870;15294978;15302923;15339924;15342493;15367102;15485661;15507211;15536084;15542837;15579468;15601624;15611138;15728722;15809313;15814684;15850391;15858067;15897194;15979581;16002401;16081809;16112081;16116428;16184169;16243035;16243036;16460752;16473593;16492808;16495223;16497229;16507994;16519628;1660188;16620771;16636067;16678913;16702231;16704971;16762923;16777452;16777849;16862148;16864775;16896804;16914516;16959974;16968698;17028579;17060455;17077126;17145773;17158234;17170135;17196961;17214551;17244649;17269730;17583407;17590538;17599059;17698854;17702745;17707131;17765681;17804252;17976533;18006275;18006505;18045877;18056264;18191593;18218625;18238778;18249095;18347018;18396277;18426980;18452278;18653540;18662984;18718904;18838382;19269969;19336658;19494238;19605563;19666841;19673492;19713215;19934221;20176813;20400958;20460433;20679435;20705608;20733000;20810653;21148482;21151158;21173190;21378159;21414324;21542010;21565175;21613211;21641550;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22777291;22922100;22970203;23176821;23176823;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23757206;23807634;23870057;23940355;24086303;24259668;24335996;24352656;24623723;24859002;24933155;24960694;24966474;25024229;25211221;25428919;25576301;25645385;25704760;25721503;25795300;25862245;25880248;25892735;26016997;26129894;26529257;26711011;26887924;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27862975;28114311;28196833;28218747;28514659;28832583;28904123;29089502;29242379;2925608;29358323;29382922;29393594;29437277;29557506;29769354;29786170;29789417;30315122;30429286;30853411;31154438;31389670;31844290;31848261;31871319;32157095;32161166;32203420;32357974;32938616;32983136;33392160;33592498;33912179;33968037;33981976;3458202;34932366;35051231;35494241;35561310;35580925;36241641;36272918;36284347;36362078;36700766;3718705;37938771;38403587;7060561;7479768;7512369;7517665;7559638;7673236;7721814;7753201;7821823;7835339;8021274;8107774;8163052;8186247;8228618;8300559;8380172;8530346;8537347;8543060;8643598;8645157;8657103;8662891;8687421;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9140189;9188469;9212163;9305890;9407135;9438849;9461603;9490638;9497316;9582072;9582313;9659915;9670022;9705280;9761774;9792683;9822598;9837959;9843499;9973503;9988689", "class_list": "", "function": "Essential role of PLD2 in hypoxia-induced stemness and therapy resistance in ovarian tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Exosome Secretion and Epithelial-Mesenchymal Transition in Ovarian Cancer Are Regulated by Phospholipase D. Publication Status: Online-Only, [RefSeq, PubMed]; Function as phospholipase selective for phosphatidylcholine (PubMed:9582313). May have a role in signal-induced cytoskeletal regulation and/or endocytosis (By similarity)., [UniProtKB, PubMed, UniProtKB]; PLD2 deletion alleviates disruption of tight junctions in sepsis-induced ALI by regulating PA/STAT3 phosphorylation pathway., [RefSeq, PubMed]; Phospholipase D and cancer metastasis: A focus on exosomes. Review article, [RefSeq, PubMed]; The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphosphate and ADP-ribosylation factor-1. This protein localizes to the peripheral membrane and may be involved in cytoskeletal organization, cell cycle control, transcriptional regulation, and/or regulated secretion. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "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": "I3L2C9;O43540;O43579;O43580;Q6PGR0;Q96BY3", "ec_number_list": "2.7.11.1;3.1.4.4;1.6.3.-;3.6.5.2;2.7.10.1;2.7.1.153;2.7.1.137;2.7.10.2;3.1.4.39;2.7.11.13;2.3.1.-;3.1.16.1;3.1.4.-", "go_molecular_function": "GO:0004630 phospholipase D activity;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031410 cytoplasmic vesicle;GO:0031526 brush border membrane;GO:0098793 presynapse", "go_biological_process": "GO:0006654 phosphatidic acid biosynthetic process;GO:0009395 phospholipid catabolic process;GO:0007010 cytoskeleton organization;GO:0007264 small GTPase-mediated signal transduction;GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis", "synthesized_glycan_count": 0, "hit_score": 36.4, "record_id": "O14939-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DH6-1", "uniprot_id": "MSI2H_HUMAN", "mass": 35197.0, "length": 328, "protein_name": "RNA-binding protein Musashi homolog 2", "gene_name": "MSI2", "organism": "Human", "refseq_name": "RNA-binding protein Musashi homolog 2 isoform a", "refseq_ac": "NP_620412", "gene_names_uniprotkb": "MSI2", "gene_names_refseq": "MSI2H; MSI2", "protein_names_uniprotkb": "RNA-binding protein Musashi homolog 2; Musashi-2", "protein_names_refseq": "RNA-binding protein Musashi homolog 2 isoform a; RNA-binding protein Musashi homolog 2; musashi homolog 2; musashi-2", "tax_id": 9606, "disease": "autosomal dominant limb-girdle muscular dystrophy type 3 (Disease Ontology:DOID:0110306)", "pathway": " (hsa:124540); (R-HSA-9013418)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "11237011;12649177;15107402;18691976;18815193;18835386;20068231;20639863;20823875;22121020;23186163;24129315;24608665;25576301;26992070;27600516;27941885;28510447;28834231;28904123;29557506;31217245;31844290;31871319;32157095;32387766;32502341;32897882;33912179;33968037;34185709;34357683;35051231;35318648;35580925;36010968;36241641;36284347;37481823;37801708;38253038;38347600;38847273;40596516", "class_list": "", "function": "Clonal evolution dissection reveals that a high MSI2 level promotes chemoresistance in T-cell acute lymphoblastic leukemia., [RefSeq, PubMed]; Dysregulated Stem Cell Markers Musashi-1 and Musashi-2 are Associated with Therapy Resistance in Inflammatory Breast Cancer., [RefSeq, PubMed]; MSI2 has a crucial role in both normal and malignant hematopoiesis., [RefSeq, PubMed]; Msi2 expression is not only highly upregulated during human chronic myeloid leukemia progression but is also an early indicator of poorer prognosis, [RefSeq, PubMed]; Musashi-2 potentiates colorectal cancer immune infiltration by regulating the post-translational modifications of HMGB1 to promote DCs maturation and migration. Publication Status: Online-Only, [RefSeq, PubMed]; RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The EVI1 gene locus was rearranged in all 13 myeloid malignancies patients and was associated with EVI1 overexpression. In 9 out of 13 patients, the 17q breakpoints clustered in a 250 kb region on band 17q22 encompassing the MSI2 gene, [RefSeq, PubMed]; This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor prognosis in certain types of cancers. This gene has also been shown to be rearranged in certain cancer cells. [provided by RefSeq, Apr 2016]., [RefSeq]; Transcription factor FOXF2 promotes the development and progression of pancreatic cancer by targeting MSI2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z6M7;Q8N9T4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0042802 identical protein binding;GO:0008266 poly(U) RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006417 regulation of translation;GO:0007417 central nervous system development;GO:0048864 stem cell development", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96DH6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13057-1", "uniprot_id": "COASY_HUMAN", "mass": 62329.0, "length": 564, "protein_name": "Bifunctional coenzyme A synthase", "gene_name": "COASY", "organism": "Human", "refseq_name": "bifunctional coenzyme A synthase isoform a precursor", "refseq_ac": "NP_001035994", "gene_names_uniprotkb": "COASY; PSEC0106", "gene_names_refseq": "COASY; DPCK; NBIA6; NBP; PCH12; PPAT; UKR1; pOV-2", "protein_names_uniprotkb": "Bifunctional coenzyme A synthase; CoA synthase; DPCOAK; Dephospho-CoA pyrophosphorylase; Dephosphocoenzyme A kinase; NBP; POV-2; PPAT; Pantetheine-phosphate adenylyltransferase", "protein_names_refseq": "CoA synthase; bifunctional coenzyme A synthase isoform a precursor; bifunctional coenzyme A synthase; bifunctional phosphopantetheine adenylyl transferase/dephospho CoA kinase; nucleotide binding protein; phosphopantetheine adenylyltransferase / dephosphocoenzyme A kinase", "tax_id": 9606, "disease": "neurodegeneration with brain iron accumulation 6 (Disease Ontology:DOID:0110740); pontocerebellar hypoplasia type 12 (Disease Ontology:DOID:0112327); mucopolysaccharidosis III (Disease Ontology:DOID:12801); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:80347); (R-HSA-196783)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "11237011;11479594;11923312;11994049;12095677;12554685;12906824;14514684;14523052;15105273;15302935;15581364;15893380;16040613;16272150;16460672;17242360;18088087;19690332;20068231;22424782;23481700;24275569;24360804;24715725;25576301;25645385;25880248;26154972;27600516;27846572;28228285;28446606;28489334;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;30089828;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34561969;35051231;35251023;35580925;36010968;36215666;36241641;36284347;36495139;36983025;37359417;37938771;38750253;8529999", "class_list": "", "function": "Bifunctional enzyme that catalyzes the fourth step of the coenzyme A biosynthetic pathway, the adenylation of 4'-phosphopantetheine, and the fifth step, the phosphorylation of dephospho-CoA to CoA., [UniProtKB, PubMed, PubMed]; Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]., [RefSeq]; Description of the existence of a novel CoA synthase isoform, which is the product of alternative splicing and possesses a 29aa extension at the N-terminus; termed it CoASy beta, [RefSeq, PubMed]; Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases., [RefSeq, PubMed]; Identification and characterization of the gene encoding the human phosphopantetheine adenylyltransferase and dephospho-CoA kinase bifunctional enzyme (CoA synthase)., [RefSeq, PubMed]; Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "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": "B2RA78;B4DLU0;Q6GS23;Q8NBM7;Q8NEW1;Q8WXD4;Q9NRM3", "ec_number_list": "2.7.1.24;2.7.7.3", "go_molecular_function": "GO:0004140 dephospho-CoA kinase activity;GO:0004595 pantetheine-phosphate adenylyltransferase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015937 coenzyme A biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q13057-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L190-1", "uniprot_id": "DPPA4_HUMAN", "mass": 33541.0, "length": 304, "protein_name": "Developmental pluripotency-associated protein 4", "gene_name": "DPPA4", "organism": "Human", "refseq_name": "developmental pluripotency-associated protein 4 isoform 1", "refseq_ac": "NP_060659", "gene_names_uniprotkb": "DPPA4", "gene_names_refseq": "2410091M23Rik; DPPA4", "protein_names_uniprotkb": "Developmental pluripotency-associated protein 4", "protein_names_refseq": "developmental pluripotency-associated protein 4 isoform 1; developmental pluripotency-associated protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:55211); (R-HSA-2892247); (R-HSA-9819196)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10209961;11237011;11751684;11855863;12065233;14681828;15277698;15342941;15955829;16153702;16397896;16670092;16846370;16862074;16954206;16978057;17068183;17081983;1715580;17204602;17267691;17506876;17567999;17572666;18212089;18366076;18388306;18653770;19128516;19440552;19544431;19664994;19664995;19696931;19829295;20505756;20505821;20526341;20549704;20616345;20624125;20872845;21049019;21406692;22209328;22215994;22887036;23934149;24218367;24278031;26360614;26687479;26951377;27062923;28459456;28459457;31154438;31630170;33141586;33316032;34267371;35402882;36007377;36074823;36581877;7545930;7688835;9354794;9807024", "class_list": "", "function": "Chromatin modifier developmental pluripotency associated factor 4 (DPPA4) is a candidate gene for alcohol-induced developmental disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Dppa2/4 as a trigger of signaling pathways to promote zygote genome activation by binding to CG-rich region., [RefSeq, PubMed]; Dynamic cytosolic foci of DPPA4 in human pluripotent stem cells., [RefSeq, PubMed]; May be involved in the maintenance of active epigenetic status of target genes. May inhibit differentiation of embryonic cells into a primitive ectoderm lineage., [UniProtKB, UniProtKB]; This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]., [RefSeq]; Thsi study identifies DPPA4 and other genes as putative Sox2:Oct-3/4 target genes using a combination of in silico analysis and transcription-based assays., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K4M7;Q9H9N5;Q9NVI6", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0048731 system development;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q7L190-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H147-1", "uniprot_id": "TDIF1_HUMAN", "mass": 37013.0, "length": 329, "protein_name": "Deoxynucleotidyltransferase terminal-interacting protein 1", "gene_name": "DNTTIP1", "organism": "Human", "refseq_name": "deoxynucleotidyltransferase terminal-interacting protein 1", "refseq_ac": "NP_443183", "gene_names_uniprotkb": "DNTTIP1; C20orf167; TDIF1", "gene_names_refseq": "C20orf167; DNTTIP1; Tdif1; dJ447F3.4", "protein_names_uniprotkb": "Deoxynucleotidyltransferase terminal-interacting protein 1; TdIF1; TdT-interacting factor 1; Terminal deoxynucleotidyltransferase-interacting factor 1", "protein_names_refseq": "TdT binding protein; deoxynucleotidyltransferase terminal-interacting protein 1; tdT-interacting factor 1; terminal deoxynucleotidyltransferase-interacting factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:116092); (R-HSA-9764725)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10655587;11237011;11473582;11912130;12700765;15542832;16371131;17081983;17130829;17663723;18669648;20418909;20871592;21136679;21573134;22158034;22424782;22869377;23186163;23466526;23874396;24714562;25505266;25576301;25645385;25653165;25728771;25892735;26212009;26811146;26992070;27543614;27846572;27869121;27920218;28063628;28218747;28228285;28832583;28834231;29242379;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29729076;29769354;29786170;30315122;30410026;30779550;30833945;30898548;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33608512;33633747;33717175;33968037;33981976;34087483;34185709;35008676;35051231;35138000;35292107;35318648;35561310;35580925;35689852;35851744;36010968;36240223;36241641;36284347;36581221;37938771;40596516", "class_list": "", "function": "DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008]., [RefSeq]; DNTTIP1 promotes nasopharyngeal carcinoma metastasis via recruiting HDAC1 to DUSP2 promoter and activating ERK signaling pathway., [RefSeq, PubMed]; Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro) (PubMed:11473582). Also acts as a transcriptional regulator, binding to the consensus sequence 5'-GNTGCATG-3' following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA., [UniProtKB, PubMed, PubMed, PubMed]; Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro). Also acts as a transcriptional regulator, binding to the consensus sequence 5'-GNTGCATG-3' following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TdIF1-LSD1 Axis Regulates Epithelial-Mesenchymal Transition and Metastasis via Histone Demethylation of E-Cadherin Promoter in Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The TdT binding, DNA binding and dimerization regions, and nuclear localization signal (NLS) in TdIF1, were identified., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RA18;Q96DE3;Q9BQP2;Q9H148", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0042803 protein homodimerization activity;GO:0031491 nucleosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005694 chromosome;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006325 chromatin organization;GO:0045995 regulation of embryonic development", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9H147-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07686-1", "uniprot_id": "HEXB_HUMAN", "mass": 63137.0, "length": 556, "protein_name": "Beta-hexosaminidase subunit beta", "gene_name": "HEXB", "organism": "Human", "refseq_name": "beta-hexosaminidase subunit beta isoform 2", "refseq_ac": "NP_001278933", "gene_names_uniprotkb": "HEXB; HCC7", "gene_names_refseq": "ENC-1AS; HEL-248; HEL-S-111; HEXB", "protein_names_uniprotkb": "Beta-hexosaminidase subunit beta; 3.2.1.52; Beta-N-acetylhexosaminidase subunit beta; Cervical cancer proto-oncogene 7 protein; HCC-7; Hexosaminidase subunit B; N-acetyl-beta-glucosaminidase subunit beta", "protein_names_refseq": "HCC-7; N-acetyl-beta-glucosaminidase subunit beta; beta-N-acetylhexosaminidase subunit beta; beta-hexosaminidase beta-subunit; beta-hexosaminidase subunit beta isoform 2; beta-hexosaminidase subunit beta; cervical cancer proto-oncogene 7 protein; epididymis luminal protein 248; epididymis secretory protein Li 111; epididymis secretory sperm binding protein; hexosaminidase B (beta polypeptide); hexosaminidase subunit B", "tax_id": 9606, "disease": "spinal muscular atrophy (Disease Ontology:DOID:12377); lysosomal storage disease (Disease Ontology:DOID:3211); Sandhoff disease (Disease Ontology:DOID:3323)", "pathway": " (hsa:3074); (R-HSA-2022857); (R-HSA-2024101); (R-HSA-2160916); (R-HSA-3656248); (R-HSA-6798695); (R-HSA-9840310)", "pathway_count": 7, "publication_count": 221, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10196694;10339581;10406958;10781797;10823942;10861246;10942779;10982028;10993717;11237011;11329289;11350180;11350981;11447134;11489889;11568288;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12706724;12754519;12885774;12888274;12909021;1352293;1352993;1386607;14514708;1463457;15003450;15035633;15090545;15213228;1522213;1531140;15458386;15503855;15510212;15647514;15714521;15773042;15845354;16104017;16229686;16230343;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17050540;17105727;1718266;1720305;17251047;1740330;1756715;1794986;1825792;1840600;18446792;18524657;18758829;1889421;1907800;1915858;19159218;19224584;1928092;19405096;1946389;19836391;19889881;2001789;20068231;20232353;20728381;2122463;2139028;2139865;2147027;2147427;22898188;22940367;23090970;23481700;23509262;235289;23650620;239890;24029068;24190977;2525487;25418920;2562955;25645385;2579389;25892735;2717620;27543614;27600516;28063628;28126847;28218747;28228285;28649982;28832583;2921040;29242379;29314611;29331515;29393594;29443946;2948136;29508533;2960521;29632046;29632711;2964638;2965147;2966076;29692406;2970528;2971039;2971395;2973515;29741879;29747811;2976757;2977375;29786170;29789417;29802621;3013851;3014515;3014997;30192525;30315122;3048308;30524438;30573663;30779550;30833945;31222486;3134052;3136930;31495489;3156493;3158659;31848261;31937595;3196333;32119511;33043033;33407268;34019948;34554397;3456607;3468507;35494241;36215666;36284347;37074911;37938771;38665916;39940;40914422;5135907;5164093;527942;571983;5822067;7213753;738706;7504405;7557963;7626071;7628016;7633435;7730378;7744740;7852280;8045559;8106452;8123671;8213840;8281145;8282124;8357844;8370580;8399327;8573994;8591035;8663398;8672428;8673609;8692836;8804427;8889578;8901634;8950198;8955159;8985184;9217013;9223416;9338580;9401004;9520418;9521684;9694901;9712871;9856491", "class_list": "glycogene;glycosylhydrolase", "function": "Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients., [RefSeq, PubMed]; Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]., [RefSeq]; Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, PubMed:8123671, PubMed:8672428, PubMed:9694901). The isozyme B does not hydrolyze each of these substrates, however hydrolyzes efficiently neutral oligosaccharide (PubMed:11707436). Only the isozyme A is responsible for the degradation of GM2 gangliosides in the presence of GM2A (PubMed:8123671, PubMed:8672428, PubMed:9694901). During fertilization is responsible, at least in part, for the zona block to polyspermy. Present in the cortical granules of non-activated oocytes, is exocytosed during the cortical reaction in response to oocyte activation and inactivates the sperm galactosyltransferase-binding site, accounting for the block in sperm binding to the zona pellucida (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 783, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 47, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "4.6.1.19;3.2.1.24;1.6.2.2;3.2.1.51;3.5.3.1;1.11.2.2;3.2.1.-;3.2.1.22;3.2.1.52;3.4.21.4;3.2.1.31;3.4.21.37;3.4.21.20;4.6.1.18;3.4.16.5;3.4.16.-;2.4.1.1;3.1.27.-;3.1.6.8;3.1.6.14;3.1.6.12;3.2.1.23;1.1.1.205;3.5.1.26;3.4.21.76;2.7.11.24;1.11.1.27;3.1.1.4;2.3.1.23;3.1.6.4;2.7.10.2;3.6.1.-;2.3.3.8;3.4.14.1;3.6.4.6;3.2.1.17;2.7.11.13;6.3.4.21;1.8.4.-;5.3.4.1;3.4.19.9;1.6.5.5;3.1.3.16;5.3.99.3;3.5.4.4;3.4.14.2;3.5.3.15", "go_molecular_function": "GO:0042802 identical protein binding;GO:0008375 acetylglucosaminyltransferase activity;GO:0044877 protein-containing complex binding;GO:0030246 carbohydrate binding;GO:0016231 beta-N-acetylglucosaminidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0006689 ganglioside catabolic process;GO:0030209 dermatan sulfate proteoglycan catabolic process;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 27.5, "record_id": "P07686-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C9JCN9-1", "uniprot_id": "HSBPL_HUMAN", "mass": 8384.0, "length": 74, "protein_name": "Heat shock factor-binding protein 1-like protein 1", "gene_name": "HSBP1L1", "organism": "Human", "refseq_name": "heat shock factor-binding protein 1-like protein 1", "refseq_ac": "NP_001129652", "gene_names_uniprotkb": "HSBP1L1", "gene_names_refseq": "HSBP1L1", "protein_names_uniprotkb": "Heat shock factor-binding protein 1-like protein 1", "protein_names_refseq": "heat shock factor-binding protein 1-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:440498)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;25576301;28832583;32938616;33981976", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RXG9", "ec_number_list": "", "go_molecular_function": "GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0070370 cellular heat acclimation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "C9JCN9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HCC6-1", "uniprot_id": "HES4_HUMAN", "mass": 23523.0, "length": 221, "protein_name": "Transcription factor HES-4", "gene_name": "HES4", "organism": "Human", "refseq_name": "transcription factor HES-4 isoform 2", "refseq_ac": "NP_066993", "gene_names_uniprotkb": "HES4; BHLHB42", "gene_names_refseq": "HES4; bHLHb42", "protein_names_uniprotkb": "Transcription factor HES-4; Class B basic helix-loop-helix protein 42; Hairy and enhancer of split 4; bHLH factor Hes4; bHLHb42; hHES4", "protein_names_refseq": "bHLH factor Hes4; class B basic helix-loop-helix protein 42; hHES4; hairy and enhancer of split 4; transcription factor HES-4 isoform 2; transcription factor HES-4", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319); central nervous system cancer (Disease Ontology:DOID:3620)", "pathway": " (hsa:57801)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;11260262;25480889;25576301;25579220;26154972;26992070;27786411;28834231;29242379;29331515;29393594;29557506;30379171;30779550;31848261;31919081;32157095;32373127;33981976;34087483;35051231;35580925;36215666;37938771", "class_list": "", "function": "Epigenetic dysregulation of HES4 could play a critical role in modifying Huntington's disease pathogenesis and severity., [RefSeq, PubMed]; HES1 and HES4 have non-redundant roles downstream of Notch during early human T-cell development. Publication Status: Online-Only, [RefSeq, PubMed]; Hes4 overexpression promotes a more aggressive tumor phenotype by preventing osteoblastic differentiation of osteosarcoma cells. Hes4 expression may allow for the stratification of patients into good or poor responders to chemotherapy at diagnosis., [RefSeq, PubMed]; Overexpression and knockdown studies demonstrated that Hes4 promotes osteogenesis resulting in an increase in Runx2, osteocalcin, osteopontin, and bone sialoprotein expression in BMSC., [RefSeq, PubMed]; Transcriptional repressor. Binds DNA on N-box motifs: 5'-CACNAG-3' (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5SVA5", "ec_number_list": "", "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0009952 anterior/posterior pattern specification", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9HCC6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14894-1", "uniprot_id": "CRYM_HUMAN", "mass": 33776.0, "length": 314, "protein_name": "Ketimine reductase mu-crystallin", "gene_name": "CRYM", "organism": "Human", "refseq_name": "ketimine reductase mu-crystallin", "refseq_ac": "NP_001879", "gene_names_uniprotkb": "CRYM; THBP", "gene_names_refseq": "CRYM; DFNA40; THBP", "protein_names_uniprotkb": "Ketimine reductase mu-crystallin; 1-piperideine-2-carboxylate/1-pyrroline-2-carboxylate reductase; 1.5.1.1; 1.5.1.25; NADP-regulated thyroid-hormone-binding protein; P2C/Pyr2C reductase", "protein_names_refseq": "1-piperideine-2-carboxylate/1-pyrroline-2-carboxylate reductase; NADP-regulated thyroid-hormone binding protein; P2C/Pyr2C reductase; ketimine reductase mu-crystallin; mu-crystallin homolog; thiomorpholine-carboxylate dehydrogenase", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 40 (Disease Ontology:DOID:0110566)", "pathway": " (hsa:1428); (R-HSA-71064)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10642506;10775527;11083877;11237011;12126930;12471561;1384048;15274622;16491085;16740909;17242435;18056995;18056996;18775954;19885858;21332720;22241472;22645359;24043460;25931162;28514659;28657654;28832583;29557506;29632711;30779550;31217245;31844290;32157095;32350084;32387766;32742378;33034050;35051231;35580925;38401023;38418885;6434529;9285773;9328354", "class_list": "", "function": "Catalyzes the NAD(P)H-dependent reduction of imine double bonds of a number of cyclic ketimine substrates, including sulfur-containing cyclic ketimines (PubMed:21332720, PubMed:25931162). Under physiological conditions, it efficiently catalyzes delta(1)-piperideine-2-carboxylate (P2C) and delta(1)-pyrroline-2-carboxylate (Pyr2C) reduction, suggesting a central role in lysine and glutamate metabolism (PubMed:25931162). Additional substrates are delta(2)-thiazoline-2-carboxylate (T2C), 3,4-dehydrothiomorpholine-3-carboxylate (AECK), and (R)-lanthionine ketimine (LK) that is reduced at very low rate compared to other substrates (PubMed:25931162). Also catalyzes the NAD(P)H-dependent reduction of (S)-cystathionine ketimine (CysK) (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Crym-positive striatal astrocytes gate perseverative behaviour., [RefSeq, PubMed]; Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]., [RefSeq]; Gene expression patterns of CRYM and SIGLEC10 in Alzheimer's disease: potential early diagnostic indicators. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues, [RefSeq, PubMed]; Thyroid and androgen receptor signaling are antagonized by mu-Crystallin in 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D5MNX0;Q5HYB7", "ec_number_list": "1.5.1.25;1.5.1.1", "go_molecular_function": "GO:0047127 thiomorpholine-carboxylate dehydrogenase activity;GO:0042803 protein homodimerization activity;GO:0003714 transcription corepressor activity;GO:0070324 thyroid hormone binding;GO:0050661 NADP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006554 lysine catabolic process;GO:0007605 sensory perception of sound;GO:0042403 thyroid hormone metabolic process;GO:0070327 thyroid hormone transport", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q14894-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16678-1", "uniprot_id": "CP1B1_HUMAN", "mass": 60846.0, "length": 543, "protein_name": "Cytochrome P450 1B1", "gene_name": "CYP1B1", "organism": "Human", "refseq_name": "cytochrome P450 1B1", "refseq_ac": "NP_000095", "gene_names_uniprotkb": "CYP1B1", "gene_names_refseq": "ASGD6; CP1B; CYP1B1; CYPIB1; GLC3A; P4501B1", "protein_names_uniprotkb": "Cytochrome P450 1B1; 1.14.14.1; 4.2.1.152; CYPIB1; Hydroperoxy icosatetraenoate dehydratase", "protein_names_refseq": "aryl hydrocarbon hydroxylase; cytochrome P450 1B1; cytochrome P450, family 1, subfamily B, polypeptide 1; cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile); dioxin-inducible cytochrome p450; flavoprotein-linked monooxygenase; hydroperoxy icosatetraenoate dehydratase; microsomal monooxygenase; xenobiotic monooxygenase", "tax_id": 9606, "disease": "Peters anomaly (Disease Ontology:DOID:0060673); anterior segment dysgenesis 6 (Disease Ontology:DOID:0080611); juvenile glaucoma (Disease Ontology:DOID:1068); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); buphthalmos (Disease Ontology:DOID:11211); hydrophthalmos (Disease Ontology:DOID:11212); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); breast cancer (Disease Ontology:DOID:1612); asthma (Disease Ontology:DOID:2841); breast adenocarcinoma (Disease Ontology:DOID:3458); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); rhinitis (Disease Ontology:DOID:4483); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:1545); (R-HSA-211976); (R-HSA-2142670); (R-HSA-2142816); (R-HSA-5579000)", "pathway_count": 5, "publication_count": 160, "publication_id_list": "10227395;10426814;10588945;10655546;10681376;10739169;11184479;11221602;11237011;11403040;11527932;11555828;11774072;11854439;11980847;12036985;12432928;12468260;12525557;12865317;14635112;14640114;14656940;14660610;15042513;15072827;15096040;15255109;15258110;15342693;15475877;15611369;15896461;16103451;16490498;16688110;16735994;16862072;17063266;1708392;1741400;18470941;19005183;19643970;19661213;20054638;20149798;20492382;20972997;21068195;21147782;21191305;21614911;21636783;22190224;22327650;22459615;22504876;2256920;22772592;22888116;22935222;23032576;23370603;23481700;23821647;23869875;23886208;24029068;24343338;24366607;24453031;24714562;24715725;25115775;25475389;25548167;25576301;25892735;2592361;26154972;26225675;26375851;26992070;27110896;27846572;27862975;27920218;28063628;28228285;28469395;28832583;28860189;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;3024157;30379171;3038528;30429286;30779550;30833945;31154438;31291378;31844290;31848261;31937595;31998317;32161166;32265295;32387766;32488085;32502341;32897882;32983136;33043033;33141586;33298915;33392160;33592498;33717175;33968037;34087483;34171305;34185709;34211107;34509645;3487786;34932366;35051231;35318648;35580925;36010968;36215666;36284347;37938771;38479850;38701513;39304655;39321267;7625847;8175734;8619637;8631948;8910454;9435160;9463332;9497261;9536209;9578606;9618440;9823305;9866708", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:15258110, PubMed:20972997). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:15258110, PubMed:20972997). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity toward E2 at the C-4 position (PubMed:11555828, PubMed:12865317). Metabolizes testosterone and progesterone to B or D ring hydroxylated metabolites (PubMed:10426814). May act as a major enzyme for all-trans retinoic acid biosynthesis in extrahepatic tissues. Catalyzes two successive oxidative transformation of all-trans retinol to all-trans retinal and then to the active form all-trans retinoic acid (PubMed:10681376, PubMed:15258110). Catalyzes the epoxidation of double bonds of certain PUFA. Converts arachidonic acid toward epoxyeicosatrienoic acid (EpETrE) regioisomers, 8,9-, 11,12-, and 14,15- EpETrE, that function as lipid mediators in the vascular system (PubMed:20972997). Additionally, displays dehydratase activity toward oxygenated eicosanoids hydroperoxyeicosatetraenoates (HpETEs). This activity is independent of cytochrome P450 reductase, NADPH, and O2 (PubMed:21068195). Also involved in the oxidative metabolism of xenobiotics, particularly converting polycyclic aromatic hydrocarbons and heterocyclic aryl amines procarcinogens to DNA-damaging products (PubMed:10426814). Plays an important role in retinal vascular development. Under hyperoxic O2 conditions, promotes retinal angiogenesis and capillary morphogenesis, likely by metabolizing the oxygenated products generated during the oxidative stress. Also, contributes to oxidative homeostasis and ultrastructural organization and function of trabecular meshwork tissue through modulation of POSTN expression (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0020887 Silencing Combats Hypoxic-Induced Cardiomyocyte Injury in an MiR-370-3p/CYP1B1-Dependent Manner., [RefSeq, PubMed]; Cytochrome P450 1B1 is critical in the development of TNF-alpha, IL-6, and LPS-induced cellular hypertrophy., [RefSeq, PubMed]; Inhibition of heme-thiolate monooxygenase CYP1B1 prevents hepatic stellate cell activation and liver fibrosis by accumulating trehalose., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [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": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TZW8;Q93089;Q9H316", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.14;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;5.3.99.5;1.14.14.75;5.4.4.7;1.14.14.74;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;5.3.99.4;1.14.14.130;1.14.14.25", "go_molecular_function": "GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;GO:0101020 estrogen 16-alpha-hydroxylase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0002930 trabecular meshwork development;GO:0008210 estrogen metabolic process;GO:0097267 omega-hydroxylase P450 pathway;GO:0007155 cell adhesion;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q16678-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNU6-1", "uniprot_id": "CP8B1_HUMAN", "mass": 58068.0, "length": 501, "protein_name": "7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase", "gene_name": "CYP8B1", "organism": "Human", "refseq_name": "7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase", "refseq_ac": "NP_004382", "gene_names_uniprotkb": "CYP8B1; CYP12", "gene_names_refseq": "CP8B; CYP12; CYP8B1; CYPVIIIB1", "protein_names_uniprotkb": "7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase; 1.14.14.139; 7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase; CYPVIIIB1; Cytochrome P450 8B1; Sterol 12-alpha-hydroxylase", "protein_names_refseq": "7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase; 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase; cytochrome P450 8B1; cytochrome P450, family 8, subfamily B, polypeptide 1; cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1; sterol 12-alpha-hydroxylase", "tax_id": 9606, "disease": "spastic cerebral palsy (Disease Ontology:DOID:0050669); alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); gestational diabetes (Disease Ontology:DOID:11714); extrahepatic cholestasis (Disease Ontology:DOID:13619); alcohol use disorder (Disease Ontology:DOID:1574); drug psychosis (Disease Ontology:DOID:1742); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419); amphetamine abuse (Disease Ontology:DOID:670); type 1 diabetes mellitus (Disease Ontology:DOID:9744); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1582); (R-HSA-193368); (R-HSA-193775); (R-HSA-193807); (R-HSA-211979); (R-HSA-211994); (R-HSA-2162123)", "pathway_count": 7, "publication_count": 88, "publication_id_list": "10051404;10092594;10377398;10377455;10405341;10479480;10588945;10622721;10655068;10748047;10749848;10791960;10922363;10966456;11060344;11067870;11158055;11237011;11297515;11465543;11672424;11673457;11980911;12627223;12679481;12835322;1380156;1400444;14640697;14979715;15047184;15115769;15249218;15891895;16436457;16475787;16828555;1708392;17449869;17641676;18006499;18493841;18682561;19000823;20036328;20166139;2019602;20667974;20950588;21467029;2384150;24226095;24275569;24715725;29557506;30465713;31154438;31844290;32938616;33392160;34087483;35051231;36107630;3862115;39214664;3954355;4514999;4521806;4776443;5284360;7005231;7508385;7552725;7649182;7925341;7947975;8034703;8175750;8387517;8901870;8902629;8943006;9139685;9219313;9539102;9626023;9660774;9799565", "class_list": "", "function": "Cholesterol loading reduces SREBP-1 mRNA expression in addition to reducing functional SREBP-1 protein, and results in decreasing CYP8B1 gene transcription., [RefSeq, PubMed]; Demonstration that CYP8B1 can also convert chenodeoxycholic acid (CDCA) itself to cholic acid (CA), [RefSeq, PubMed]; Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans. Publication Status: Online-Only, [RefSeq, PubMed]; RORalpha is a key regulator of diurnal rhythm and fasting induction of CYP8B1, which regulates bile acid composition and serum and liver cholesterol levels., [RefSeq, PubMed]; Sterol 12-alpha-hydroxylase involved in primary bile acid biosynthesis by catalyzing the 12alpha-hydroxylation of key intermediates including 7alpha-hydroxycholest-4-en-3-one, 3alpha,7alpha-dihydroxy-5beta-cholestan-26-oate and chenodeoxycholate along the classic pathway (PubMed:10051404, PubMed:30465713, PubMed:39214664). May also hydroxylate 5beta-cholestane-3alpha,7alpha-diol (By similarity). Functions as a monooxygenase, inserting one atom of molecular oxygen into substrates while reducing the second to water, using electrons supplied by NADPH via cytochrome P450 reductase (CPR) (By similarity). Controls biliary balance of cholic acid and chenodeoxycholic acid, thereby regulating intestinal absorption of dietary lipids (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Studies indicate a homogenous pattern for CYP8B1 expression in human liver, which was even rather than zonal., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RCY3;O75958;Q6NWT2;Q6NWT3", "ec_number_list": "5.3.99.4;4.2.1.152;1.14.14.139", "go_molecular_function": "GO:0008397 sterol 12-alpha-hydroxylase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0019825 oxygen binding;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0031667 response to nutrient levels;GO:0016125 sterol metabolic process;GO:0006694 steroid biosynthetic process;GO:0070723 response to cholesterol", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9UNU6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02489-1", "uniprot_id": "CRYAA_HUMAN", "mass": 19909.0, "length": 173, "protein_name": "Alpha-crystallin A chain", "gene_name": "CRYAA", "organism": "Human", "refseq_name": "alpha-crystallin A chain isoform 1", "refseq_ac": "NP_000385", "gene_names_uniprotkb": "CRYAA; CRYA1; HSPB4", "gene_names_refseq": "CRYA1; CRYAA; CTRCT9; HSPB4", "protein_names_uniprotkb": "Alpha-crystallin A chain; Heat shock protein beta-4; Heat shock protein family B member 4; HspB4", "protein_names_refseq": "alpha-crystallin A chain isoform 1; alpha-crystallin A chain; crystallin, alpha-1; heat shock protein beta-4; heat shock protein family B member 4; human alphaA-crystallin (CRYA1)", "tax_id": 9606, "disease": "adult-onset myofibrillar myopathy 2A (Disease Ontology:DOID:0080093); Charcot-Marie-Tooth disease axonal type 2L (Disease Ontology:DOID:0110174); cataract 9 multiple types (Disease Ontology:DOID:0110266); autosomal dominant distal hereditary motor neuronopathy 2 (Disease Ontology:DOID:0111206); pancreatitis (Disease Ontology:DOID:4989); cataract (Disease Ontology:DOID:83); ocular hypertension (Disease Ontology:DOID:9282); galactosemia (Disease Ontology:DOID:9870)", "pathway": " (hsa:102724652); (hsa:1409)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10930324;11006246;11123904;11237011;12060738;12356833;12369933;1374746;14512969;16453125;16735993;16862070;16959974;17296897;1730617;17724170;17909943;17937925;18199971;18302245;18407550;18587492;18754677;19182255;19390652;19464326;19503744;19595763;20465443;20836128;21686328;21866213;22065922;22120592;22216983;22890888;23255486;23271734;23288997;23441109;23508780;24074001;25729975;26004348;26867756;28690483;28839118;28935373;2918909;29386872;29557506;29914532;30327117;30340470;31523120;31792453;32010934;33043033;33243271;34071438;36338667;36380611;37253645;3758227;37807341;38991013;8175657;817940;8587135;8759518;894324;8943244;8999933;9068373;9467006;9543632;9655350", "class_list": "", "function": "Alpha A crystallin is a moonlighting protein that functions as a heat shock protein as well as a lens crystallin., [RefSeq, PubMed]; Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract., [RefSeq, PubMed]; Characterization of different-sized human alphaA-crystallin homomers and implications to Asp151 isomerization. Publication Status: Online-Only, [RefSeq, PubMed]; Contributes to the transparency and refractive index of the lens (PubMed:18302245). In its oxidized form (absence of intramolecular disulfide bond), acts as a chaperone, preventing aggregation of various proteins under a wide range of stress conditions (PubMed:18199971, PubMed:19595763, PubMed:22120592, PubMed:31792453). Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Expression of alphaA-crystallin (CRYAA) in vivo and in vitro models of age-related cataract and the effect of its silencing on HLEB3 cells., [RefSeq, PubMed]; Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014]., [RefSeq]; Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district buner, KPK, Pakistan. Publication Status: Online-Only, [RefSeq, PubMed]; Structural and functional analysis of SNP rs76740365 G>A in exon-3 of the alpha A-crystallin gene in lens epithelial 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": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A140G945;E9PHE4;Q53X53", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0051082 unfolded protein binding;GO:0005198 structural molecule activity;GO:0005212 structural constituent of eye lens", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0032387 negative regulation of intracellular transport;GO:0043066 negative regulation of apoptotic process;GO:0007601 visual perception;GO:0050821 protein stabilization;GO:0009408 response to heat", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P02489-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14558-1", "uniprot_id": "HSPB6_HUMAN", "mass": 17136.0, "length": 160, "protein_name": "Heat shock protein beta-6", "gene_name": "HSPB6", "organism": "Human", "refseq_name": "heat shock protein beta-6", "refseq_ac": "NP_653218", "gene_names_uniprotkb": "HSPB6", "gene_names_refseq": "HEL55; HSPB6; Hsp20; PPP1R91", "protein_names_uniprotkb": "Heat shock protein beta-6; Heat shock 20 kDa-like protein p20; Heat shock protein family B member 6; HspB6", "protein_names_refseq": "epididymis luminal protein 55; epididymis secretory sperm binding protein; heat shock 20 kDa-like protein p20; heat shock protein beta-6; heat shock protein family B (small) member B6; heat shock protein family B member 6; heat shock protein, alpha-crystallin-related, B6; protein phosphatase 1, regulatory subunit 91", "tax_id": 9606, "disease": "adult-onset myofibrillar myopathy 2A (Disease Ontology:DOID:0080093)", "pathway": " (hsa:126393)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10196226;11237011;12738803;14717697;16225851;18790732;19464326;19568960;19777375;19845507;19850943;20166139;20843828;20869365;21334344;21641913;22002549;22427880;22731613;22794279;23473803;23948568;24275569;24382496;24400135;24859569;26098708;26443497;27046040;27717639;28097089;29557506;30429286;31154438;31628352;31844290;33339131;37241227;37844714;37861934;38237739;38466834;38665916;8195168", "class_list": "", "function": "Cellular functions of heat shock protein 20 (HSPB6) in cancer: A review. Review article, [RefSeq, PubMed]; HSPB6 Deficiency Promotes the Development of Aortic Dissection and Rupture., [RefSeq, PubMed]; HSPB6 Is Depleted in Colon Cancer Patients and Its Expression Is Induced by 5-aza-2'-Deoxycytidine In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of HSP20 Ameliorates Steatotic Liver Disease by Stimulating ERK2-Dependent Autophagy., [RefSeq, PubMed]; Our results suggest that a variety of oligomers composed of different proportions of different sHSPs may form in cell types expressing multiple sHSPs., [RefSeq, PubMed]; Overexpression of HSPB6 inhibits osteosarcoma progress through the ERK signaling pathway., [RefSeq, PubMed]; Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state. Seems to have versatile functions in various biological processes. Plays a role in regulating muscle function such as smooth muscle vasorelaxation and cardiac myocyte contractility. May regulate myocardial angiogenesis implicating KDR. Overexpression mediates cardioprotection and angiogenesis after induced damage. Stabilizes monomeric YWHAZ thereby supporting YWHAZ chaperone-like activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 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": "O14551;Q6NVI3;Q96MG9", "ec_number_list": "", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity;GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0005212 structural constituent of eye lens", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0045766 positive regulation of angiogenesis;GO:0006457 protein folding;GO:0009408 response to heat;GO:0010667 negative regulation of cardiac muscle cell apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "O14558-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49773-1", "uniprot_id": "HINT1_HUMAN", "mass": 13802.0, "length": 126, "protein_name": "Adenosine 5'-monophosphoramidase HINT1", "gene_name": "HINT1", "organism": "Human", "refseq_name": "adenosine 5'-monophosphoramidase HINT1 isoform 1", "refseq_ac": "NP_005331", "gene_names_uniprotkb": "HINT1; HINT; PKCI1; PRKCNH1", "gene_names_refseq": "HINT1; HINT; NMAN; PKCI-1; PRKCNH1", "protein_names_uniprotkb": "Adenosine 5'-monophosphoramidase HINT1; 3.4.22.-; 3.9.1.-; Desumoylating isopeptidase HINT1; Histidine triad nucleotide-binding protein 1; PKCI-1; Protein kinase C inhibitor 1; Protein kinase C-interacting protein 1", "protein_names_refseq": "adenosine 5'-monophosphoramidase HINT1 isoform 1; adenosine 5'-monophosphoramidase HINT1; adenosine 5'-monophosphoramidase; desumoylating isopeptidase HINT1; epididymis secretory sperm binding protein; protein kinase C inhibitor 1; protein kinase C-interacting protein 1", "tax_id": 9606, "disease": "Gamstorp-Wohlfart syndrome (Disease Ontology:DOID:0050526)", "pathway": " (hsa:3094); (R-HSA-9824594); (R-HSA-9825892); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 163, "publication_id_list": "10567402;10611221;10655586;10673502;10770922;10958787;11027551;11062467;11237011;11840323;11891324;11912130;11930005;12665801;14744763;14975237;15118077;15226305;15507434;15703176;16014379;16034366;16408927;16822840;16835243;1698554;17217311;17337452;1748288;17623675;18327259;18644867;18802091;19112177;19524539;19608861;20360007;20460180;21486943;21965087;22329685;22424782;22647378;22869114;22869377;22961002;23159739;23190890;23207919;23614568;24714562;24715725;25142731;25248477;25576301;25595898;25645385;25810538;26154972;26486273;26758079;26768311;26992070;27128622;27452731;27600516;27846572;27862975;27920218;28218747;28228285;28394346;28446606;28514659;28649982;28691797;28832583;28834231;28855257;29242379;29295999;29493099;29508533;29557506;29632711;29786170;29787766;30315122;30429286;30573663;30772266;30779550;30804224;31020640;31088288;31092671;31217245;31222486;31844290;31848261;31990367;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32636443;32897882;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33744299;33936100;33968037;33981976;34019948;34140478;34185709;34211107;34357683;34433824;34509645;34932366;35051231;35138101;35154160;35241097;35251023;35580925;36242072;36284347;37373392;37770430;38279213;38665916;39062900;39190717;5338216;7644499;7958932;7987387;8336698;8343963;8643579;8812426;9199364;9323207;9353119;9440696;9537257;9560246;9676189;9710594;9760192;9770345;9806836;9973413", "class_list": "", "function": "Association of the rs3864283 Polymorphism Located in the HINT1 Gene with Cigarette Use and Personality Traits. Publication Status: Online-Only, [RefSeq, PubMed]; Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (PubMed:15703176, PubMed:16835243, PubMed:17217311, PubMed:17337452, PubMed:22329685, PubMed:23614568, PubMed:28691797, PubMed:29787766, PubMed:31990367). Hydrolyzes adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (GMP-morpholidate) (PubMed:15703176, PubMed:16835243). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester (PubMed:15703176, PubMed:17337452, PubMed:22329685). Hydrolyzes 3-indolepropionic acyl-adenylate, tryptamine adenosine phosphoramidate monoester and other fluorogenic purine nucleoside tryptamine phosphoramidates in vitro (PubMed:17217311, PubMed:17337452, PubMed:23614568, PubMed:28691797, PubMed:29787766, PubMed:31990367). Can also convert adenosine 5'-O-phosphorothioate and guanosine 5'-O-phosphorothioate to the corresponding nucleoside 5'-O-phosphates with concomitant release of hydrogen sulfide (PubMed:30772266). In addition, functions as scaffolding protein that modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1 (PubMed:16014379, PubMed:22647378). Modulates p53/TP53 levels and p53/TP53-mediated apoptosis (PubMed:16835243). Modulates proteasomal degradation of target proteins by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex (PubMed:19112177). Also exhibits SUMO-specific isopeptidase activity, deconjugating SUMO1 from RGS17 (PubMed:31088288). Deconjugates SUMO1 from RANGAP1 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; HINT1 Gene Polymorphisms, Smoking Behaviour, and Personality Traits: A Haplotype Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated analysis of ceRNA network reveals potential prognostic Hint1-related lncRNAs involved in hepatocellular carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; The HINT1 Gene rs2526303 Polymorphism and Its Association with Personality Traits in Cigarette Smokers. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 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": "Q9H5W8", "ec_number_list": "3.4.22.-;3.9.1.-;3.6.1.29;2.7.7.51;3.6.2.1;3.5.1.-;3.5.1.98;2.7.7.-;6.1.1.6;2.3.1.48;2.3.1.-;2.3.1.286", "go_molecular_function": "GO:0016929 deSUMOylase activity;GO:0016787 hydrolase activity;GO:0000166 nucleotide binding;GO:0005080 protein kinase C binding;GO:0043530 adenosine 5'-monophosphoramidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006508 proteolysis;GO:0007165 signal transduction;GO:0006355 regulation of DNA-templated transcription;GO:0050850 positive regulation of calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "P49773-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02318-1", "uniprot_id": "CP27A_HUMAN", "mass": 60235.0, "length": 531, "protein_name": "Sterol 26-hydroxylase, mitochondrial", "gene_name": "CYP27A1", "organism": "Human", "refseq_name": "sterol 26-hydroxylase, mitochondrial precursor", "refseq_ac": "NP_000775", "gene_names_uniprotkb": "CYP27A1; CYP27", "gene_names_refseq": "CP27; CTX; CYP27A1; CYP27", "protein_names_uniprotkb": "Sterol 26-hydroxylase, mitochondrial; 1.14.15.15; 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase; Cytochrome P-450C27/25; Cytochrome P450 27; Sterol 27-hydroxylase; Vitamin D(3) 25-hydroxylase", "protein_names_refseq": "5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 26-hydroxylase; 5-beta-cholestane-3-alpha, 7-alpha, 12-alpha-triol 27-hydroxylase; cholestanetriol 26-monooxygenase; cytochrome P-450C27/25; cytochrome P450 27; cytochrome P450, family 27, subfamily A, polypeptide 1; cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1; sterol 26-hydroxylase, mitochondrial precursor; sterol 26-hydroxylase, mitochondrial; sterol 27-hydroxylase; vitamin D(3) 25-hydroxylase", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); leiomyoma (Disease Ontology:DOID:127); extrahepatic cholestasis (Disease Ontology:DOID:13619); endometrial cancer (Disease Ontology:DOID:1380); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); cerebrotendinous xanthomatosis (Disease Ontology:DOID:4810); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); cleft lip (Disease Ontology:DOID:9296)", "pathway": " (hsa:1593); (R-HSA-193368); (R-HSA-193775); (R-HSA-193807); (R-HSA-211976); (R-HSA-5578996)", "pathway_count": 6, "publication_count": 77, "publication_id_list": "10051404;10092594;10377398;10479480;10588945;10655068;10748047;10749848;11060344;11067870;11158055;11237011;11412116;11555828;11673457;11980911;12000359;12077124;12679481;1400444;14640697;15042513;15465040;16278884;1708392;1741400;19661213;20058876;20149798;2019602;21411718;21636783;2256920;22772592;2384150;25645385;2592361;26154972;27452731;27600516;28190002;29557506;29786170;3024157;3038528;30429286;31154438;31844290;31848261;32157095;32488085;32938616;33123756;34185709;3487786;35051231;35580925;36284347;38183874;38336741;38704863;7508385;7649182;7690968;7915755;8034703;8387517;8514861;8619637;8827518;8902629;8943006;9186905;9536209;9578606;9660774;9790667", "class_list": "", "function": "Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene. Publication Status: Online-Only, [RefSeq, PubMed]; Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid (PubMed:12077124, PubMed:21411718, PubMed:28190002, PubMed:9660774). Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways (PubMed:11412116, PubMed:1708392, PubMed:2019602, PubMed:7915755, PubMed:9186905, PubMed:9660774, PubMed:9790667). May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism (PubMed:12077124, PubMed:9660774). Catalyzes the conversion of 7-ketocholesterol (7-oxocholesterol) into 7-keto,27-hydroxycholesterol, a precursor of 7-keto,27-hydroxycholesterol, an active oxysterol that activates smoothened (SMO) and the smoothened signaling pathway (By similarity). Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation (PubMed:28190002). Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium (PubMed:21411718). May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form (PubMed:15465040)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Global spread characteristics of CTX-M-type extended-spectrum beta-lactamases: A genomic epidemiology analysis., [RefSeq, PubMed]; Methyl-CpG-binding protein 2 regulates CYP27A1-induced myometrial contraction during preterm labor., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 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": "A8K303;Q6LDB4;Q86YQ6", "ec_number_list": "1.14.15.15", "go_molecular_function": "GO:0031073 cholesterol 26-hydroxylase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0008395 steroid hydroxylase activity;GO:0030343 vitamin D3 25-hydroxylase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0008203 cholesterol metabolic process;GO:0016125 sterol metabolic process;GO:0006707 cholesterol catabolic process;GO:0036378 calcitriol biosynthetic process from calciol", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q02318-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10635-1", "uniprot_id": "CP2D6_HUMAN", "mass": 55769.0, "length": 497, "protein_name": "Cytochrome P450 2D6", "gene_name": "CYP2D6", "organism": "Human", "refseq_name": "cytochrome P450 2D6 isoform 1", "refseq_ac": "NP_000097", "gene_names_uniprotkb": "CYP2D6; CYP2DL1", "gene_names_refseq": "CPD6; CYP2D6; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; CYP2DL1; CYP2D; CYPIID6; P450-DB1; P450C2D; P450DB1", "protein_names_uniprotkb": "Cytochrome P450 2D6; 1.14.14.-; CYPIID6; Cholesterol 25-hydroxylase; Cytochrome P450-DB1; Debrisoquine 4-hydroxylase", "protein_names_refseq": "cholesterol 25-hydroxylase; cytochrome P450 2D6 isoform 1; cytochrome P450, family 2, subfamily D, polypeptide 6; cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6; cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing)-like 1; cytochrome P450-DB1; debrisoquine 4-hydroxylase; flavoprotein-linked monooxygenase; microsomal monooxygenase; nonfunctional cytochrome P450 2D6; xenobiotic monooxygenase", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); traumatic brain injury (Disease Ontology:DOID:0081292); extrapyramidal and movement disease (Disease Ontology:DOID:13839); major depressive disorder (Disease Ontology:DOID:1470); autoimmune hepatitis (Disease Ontology:DOID:2048); opiate dependence (Disease Ontology:DOID:2559); asthma (Disease Ontology:DOID:2841); rhinitis (Disease Ontology:DOID:4483); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); acute myeloid leukemia (Disease Ontology:DOID:9119); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obsolete drug metabolism, poor, CYP2D6-related (MONDO:MONDO:0012148)", "pathway": " (hsa:1565); (R-HSA-211935); (R-HSA-211958); (R-HSA-211981); (R-HSA-211999); (R-HSA-9027307); (R-HSA-9749641)", "pathway_count": 7, "publication_count": 110, "publication_id_list": "10064570;10220572;10383923;10434065;10554122;10681376;10731522;10741631;11160876;11162607;11237011;11581266;11701230;12464245;12616642;12629583;12711469;13741103;14660610;15006160;15196988;15365656;15454734;15469410;15548719;15665333;15768052;16258079;16352597;16359177;1664256;16677611;16837570;16858120;16943252;1717511;17482904;17559153;1783992;18065749;1844820;18474629;18477386;18698000;19836360;19965576;19965612;2025243;20972997;21112969;21289075;21576599;21795021;21839062;22674043;25200603;25469868;2574001;25840124;26574146;27862975;28677105;30484775;3123997;3342084;3410476;35051231;3705620;38994927;39025838;39038293;39287122;39342583;497175;5013373;5773090;5862532;6220203;6777177;6838677;7206363;7217086;7682958;7802672;7845481;7868129;7903454;8287064;8578766;8627510;8631948;8637342;8647857;8655150;8913342;8914854;8918582;8938173;8971426;8975785;9028626;9103523;9144407;9241659;931988;9600267;9644715;975718;9842986;9884161", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids (PubMed:18698000, PubMed:19965576, PubMed:20972997, PubMed:21289075, PubMed:21576599). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:18698000, PubMed:19965576, PubMed:20972997, PubMed:21289075, PubMed:21576599). Catalyzes the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) (PubMed:19965576, PubMed:20972997). Metabolizes endocannabinoid arachidonoylethanolamide (anandamide) to 20-hydroxyeicosatetraenoic acid ethanolamide (20-HETE-EA) and 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signaling (PubMed:18698000, PubMed:21289075). Catalyzes the hydroxylation of carbon-hydrogen bonds. Metabolizes cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis (PubMed:21576599). Catalyzes the oxidative transformations of all-trans retinol to all-trans retinal, a precursor for the active form all-trans-retinoic acid (PubMed:10681376). Also involved in the oxidative metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic antidepressants., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CYP2D6, CYP2E1 Gene Polymorphisms and Gastrointestinal Cancer Risk in Rural Maharashtra: A Hospital Based Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical and Adverse Outcomes Associated With Concomitant Use of CYP2D6-Metabolized Opioids With Antidepressants in Older Nursing Home Residents : A Target Trial Emulation Study., [RefSeq, PubMed]; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics., [UniProtKB, UniProtKB, UniProtKB]; Genetic susceptibility and clinical features of CYP2D6 associated with systemic lupus erythematosus in a Chinese population., [RefSeq, PubMed]; Metabolic activity of CYP2C19 and CYP2D6 on antidepressant response from 13 clinical studies using genotype imputation: a meta-analysis. Erratum:[Transl Psychiatry. 2024 Aug 31;14(1):350. doi: 10.1038/s41398-024-03064-x. PMID: 39217139] Publication Status: Online-Only, [RefSeq, PubMed]; Molecular Mechanisms Underlying Single Nucleotide Polymorphism-Induced Reactivity Decrease in CYP2D6., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "Q16752;Q2XND6;Q2XND7;Q2XNE0;Q6B012;Q6NXU8", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;5.4.4.7;1.14.14.74;1.14.14.130;5.3.99.5", "go_molecular_function": "GO:0005506 iron ion binding;GO:0016491 oxidoreductase activity;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0016098 monoterpenoid metabolic process;GO:0008203 cholesterol metabolic process;GO:0042572 retinol metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P10635-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q93096-1", "uniprot_id": "TP4A1_HUMAN", "mass": 19815.0, "length": 173, "protein_name": "Protein tyrosine phosphatase type IVA 1", "gene_name": "PTP4A1", "organism": "Human", "refseq_name": "protein tyrosine phosphatase type IVA 1 isoform 1", "refseq_ac": "NP_003454", "gene_names_uniprotkb": "PTP4A1; PRL1; PTPCAAX1", "gene_names_refseq": "HH72; PRL-1; PRL1; PTP(CAAX1); PTP4A1; PTPCAAX1", "protein_names_uniprotkb": "Protein tyrosine phosphatase type IVA 1; 3.1.3.48; PRL-1; PTP(CAAXI); Protein-tyrosine phosphatase 4a1; Protein-tyrosine phosphatase of regenerating liver 1", "protein_names_refseq": "PVT1/PTP4A1 fusion; protein tyrosine phosphatase type IVA 1 isoform 1; protein tyrosine phosphatase type IVA protein 1; protein tyrosine phosphatase type IVA, member 1; protein-tyrosine phosphatase of regenerating liver 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7803)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10.1101/2023.09.13.557529;10940933;11237011;12235145;12516958;12782572;14643450;15501285;15571731;20112406;24715725;26154972;26992070;27397612;27543614;28514659;28832583;29242379;29557506;29786170;30379171;31844290;31848261;32157095;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33502823;33691108;33968037;34357683;34509645;34932366;35051231;35137928;35251023;35318648;35561310;35580925;36284347;36534975;37938771;9018080;9633825;9642300", "class_list": "", "function": "Endothelial PTP4A1 mitigates vascular inflammation via USF1/A20 axis-mediated NF-kappaB inactivation., [RefSeq, PubMed]; GINS2 regulates the proliferation and apoptosis of colon cancer cells through PTP4A1., [RefSeq, PubMed]; LncRNA NEAT1 promotes cell proliferation, migration, and invasion via the miR-186-5p/PTP4A1 axis in cholangiocarcinoma., [RefSeq, PubMed]; Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. May play a role in the development and maintenance of differentiating epithelial tissues. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of a small class of prenylated protein tyrosine phosphatases (PTPs), which contain a PTP domain and a characteristic C-terminal prenylation motif. The encoded protein is a cell signaling molecule that plays regulatory roles in a variety of cellular processes, including cell proliferation and migration. The protein may also be involved in cancer development and metastasis. This tyrosine phosphatase is a nuclear protein, but may associate with plasma membrane by means of its prenylation motif. Pseudogenes related to this gene are located on chromosomes 1, 2, 5, 7, 11 and X. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 7, "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": "B2R6C8;O00648;Q49A54", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;3.1.3.27", "go_molecular_function": "GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005819 spindle", "go_biological_process": "GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q93096-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14993-1", "uniprot_id": "COJA1_HUMAN", "mass": 115221.0, "length": 1142, "protein_name": "Collagen alpha-1(XIX) chain", "gene_name": "COL19A1", "organism": "Human", "refseq_name": "collagen alpha-1(XIX) chain precursor", "refseq_ac": "NP_001849", "gene_names_uniprotkb": "COL19A1", "gene_names_refseq": "COL19A1; COL9A1L; D6S228E", "protein_names_uniprotkb": "Collagen alpha-1(XIX) chain; Collagen alpha-1(Y) chain", "protein_names_refseq": "a1 chain of type XIX collagen; collagen XIX, alpha-1 polypeptide; collagen alpha 1 (Y) chain; collagen alpha-1(XIX) chain precursor; collagen alpha-1(XIX) chain; collagen, type XIX, alpha 1", "tax_id": 9606, "disease": "maple syrup urine disease type IA (Disease Ontology:DOID:0061203); maple syrup urine disease (Disease Ontology:DOID:9269)", "pathway": " (hsa:1310); (R-HSA-1442490); (R-HSA-1650814); (R-HSA-8948216)", "pathway_count": 4, "publication_count": 90, "publication_id_list": "10.1038/emboj.2013.79;10049780;10479448;10551873;10809722;10934207;11013208;11119712;11237011;11577169;11927537;12473679;12475640;12579531;12646579;12788917;1323838;14500733;15005656;15044469;15257288;1577494;15950618;1639419;16591531;16825197;16959974;1704217;17088321;171650;18487197;18622425;19075007;19415658;19615748;19693541;2005102;20470363;21593211;2169335;21878990;21935455;21967573;22241472;22382088;2253219;23584533;2537292;2543975;2548603;2551898;27491275;28228285;2834383;2845110;29242379;29376320;29632711;30315122;3038863;30410026;3173483;31844290;3223920;33912179;35051231;38253038;3905801;3938630;6258630;6270089;6307276;6694361;6809411;710450;7775380;7890717;7916703;8034603;8463259;8576151;8920930;8999957;9054364;9092507;9344653;9545296;9560306;9582318;9651395", "class_list": "glycogene", "function": "May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle., [UniProtKB, PubMed]; Naturally occurring interruptions in nonfibrillar collagen play key roles in molecular flexibility, collagen degradation, and ligand binding. This study focused on a G5G type natural interruption sequence G-POALO-G from human type XIX collagen, a homotrimer collagen, as this sequence possesses distinct properties compared with those of a pathological similar Gly mutation sequence in collagen mimic peptides., [RefSeq, PubMed]; This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]., [RefSeq]; Type XIX collagen is a new partner in the interactions between tumor cells and their microenvironment. (Review) Review article, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1744, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q00559;Q05850;Q12885;Q13676;Q14DH1;Q5JUF0;Q5T424;Q9H572;Q9NPZ2;Q9NQP2", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0005201 extracellular matrix structural constituent;GO:0030020 extracellular matrix structural constituent conferring tensile strength", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0005581 collagen trimer;GO:1990318 collagen type XIX trimer", "go_biological_process": "GO:0007155 cell adhesion;GO:0030154 cell differentiation;GO:0030198 extracellular matrix organization;GO:0098609 cell-cell adhesion;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q14993-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99627-1", "uniprot_id": "CSN8_HUMAN", "mass": 23226.0, "length": 209, "protein_name": "COP9 signalosome complex subunit 8", "gene_name": "COPS8", "organism": "Human", "refseq_name": "COP9 signalosome complex subunit 8 isoform 1", "refseq_ac": "NP_006701", "gene_names_uniprotkb": "COPS8; CSN8", "gene_names_refseq": "COP9; COPS8; CSN8; SGN8", "protein_names_uniprotkb": "COP9 signalosome complex subunit 8; COP9 homolog; JAB1-containing signalosome subunit 8; SGN8; Signalosome subunit 8; hCOP9", "protein_names_refseq": "COP9 constitutive photomorphogenic homolog subunit 8; COP9 homolog; COP9 signalosome complex subunit 8 isoform 1; COP9 signalosome complex subunit 8; JAB1-containing signalosome subunit 8; signalosome subunit 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:10920); (R-HSA-5696394); (R-HSA-6781823); (R-HSA-8856825); (R-HSA-8951664)", "pathway_count": 5, "publication_count": 305, "publication_id_list": "10097102;10391953;10436022;10535940;10567358;10597293;10613896;10769163;10811609;10878807;10944529;10973499;10983987;11069780;11071885;11076969;11237011;11247302;11259415;11279143;11285227;11292861;11292862;11337588;11454738;11454741;11466336;11585840;11588219;11733065;11904382;11919637;11927540;11961546;11988742;12086608;12101228;12186903;12208738;12221107;12234931;12429842;12451172;12464600;12504025;12504026;12526791;12538644;12609982;12628923;12660172;12682069;12717448;12732143;12759363;12815074;12816948;12944386;12944396;12958364;1317852;14662753;14690597;14726597;14742321;14757770;15104674;15134832;15282312;1535555;15361859;15367669;15473838;15537541;15572695;15574592;15601839;15652483;15671180;15688063;15694336;15728179;15799966;15811629;15882621;15964821;16159959;16171779;16223728;16401342;16459302;16460808;16473935;16516836;16547496;16647857;16678110;16707496;16723738;16751180;16790436;16903783;16943200;17081101;17132228;17183367;17220875;17267500;17290000;17332328;17360967;17456551;17497243;17522231;17713526;17785452;17882165;17981804;18032517;18093314;18166656;18199683;18206966;18614043;18669648;18775313;18775314;18776931;18805092;18819912;18826954;18850735;18851830;18926707;19109893;19140243;19250909;19321346;19609301;19617556;1968060;19696798;19732400;19748355;19853559;20068231;20231386;20351096;20855601;21070792;21102408;21135142;21388382;21447816;21463634;21778237;21863050;21940857;21995445;22118460;22118466;22306028;22357968;22466610;22466611;22466612;22466964;22484487;22537386;2257624;22902626;22942912;22959436;23045548;23186163;23201271;23319653;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24127601;24186068;24275569;24366543;24366607;24384571;24636985;24680432;24715725;24746795;24793695;24793696;25154395;25314029;25349211;25355947;25418920;25435140;25531226;25576301;25645385;25810538;26154972;26344709;26403691;26456823;26460955;26632597;26829388;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27920218;28063628;28115426;28218747;28228285;28510447;28832583;28834231;28860189;28904123;2890644;29153394;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30610225;30779550;30833945;31154438;31530632;31844290;31848261;31998317;32005965;32157095;32161166;32284348;32355176;32387766;32488085;32502341;32938616;32983136;33141586;33261601;33298915;33392160;33444648;33592498;33604618;33691108;33717175;33912179;33936100;33968037;34087483;3417785;34211107;34509645;35051231;35254053;35580925;36241641;37938771;38466642;40307207;40596516;7569928;7634324;7822302;8078911;8168482;8553074;8837779;8876179;9169477;9303539;9326587;9535219;9723620;9790970;9812899;9887101;9891082", "class_list": "", "function": "COP9 signalosome complex is a prognostic biomarker and corresponds with immune infiltration in hepatocellular carcinoma., [RefSeq, PubMed]; COPS8 in cutaneous melanoma: an oncogene that accelerates the malignant development of tumor cells and predicts poor prognosis., [RefSeq, PubMed]; CSN8 is a key regulator in hypoxia-induced epithelial-mesenchymal transition and dormancy of colorectal cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [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": 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": "A8K1H6;Q53QS9", "ec_number_list": "", "go_molecular_function": "", "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:0006468 protein phosphorylation;GO:0008285 negative regulation of cell population proliferation;GO:0007250 activation of NF-kappaB-inducing kinase activity;GO:0045116 protein neddylation;GO:0010387 COP9 signalosome assembly", "synthesized_glycan_count": 0, "hit_score": 30.8, "record_id": "Q99627-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H6T3-1", "uniprot_id": "RPAP3_HUMAN", "mass": 75719.0, "length": 665, "protein_name": "RNA polymerase II-associated protein 3", "gene_name": "RPAP3", "organism": "Human", "refseq_name": "RNA polymerase II-associated protein 3 isoform 2", "refseq_ac": "NP_001139547", "gene_names_uniprotkb": "RPAP3", "gene_names_refseq": "RPAP3; Tah1; hSpagh", "protein_names_uniprotkb": "RNA polymerase II-associated protein 3", "protein_names_refseq": "RNA polymerase II-associated protein 3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79657)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "15944288;17081983;17643375;18077418;18452278;18538670;18669648;19180575;19450687;19651622;20068231;20864032;21078300;21406692;23186163;23301498;24275569;24397554;24714562;24715725;25218447;25418920;25576301;25645385;25772364;26154972;26375851;26811146;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28561026;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30429286;30484775;30524438;30833945;31092671;31154438;31222486;31530632;31738558;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34357683;34932366;35051231;35251023;35561310;35580925;36215666;36241641;36284347;37938771", "class_list": "", "function": "Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation., [UniProtKB, PubMed]; Is part of an RNA polymerase II-associated complex with possible chaperone activity., [RefSeq, PubMed]; Overexpression of RPAP3 in HEK 293 cells potentiated caspase-3 activation and apoptosis., [RefSeq, PubMed]; RPAP3 interacts with Reptin to modulate UV-induced DNA damage by regulating H2AX phosphorylation, [RefSeq, PubMed]; This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4DRW9;Q6PHR5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0097255 R2TP complex;GO:0005829 cytosol", "go_biological_process": "GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9H6T3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92504-1", "uniprot_id": "S39A7_HUMAN", "mass": 50118.0, "length": 469, "protein_name": "Zinc transporter SLC39A7", "gene_name": "SLC39A7", "organism": "Human", "refseq_name": "zinc transporter SLC39A7 isoform 1 precursor", "refseq_ac": "NP_001070984", "gene_names_uniprotkb": "SLC39A7; HKE4; RING5", "gene_names_refseq": "AGM9; D6S115E; D6S2244E; H2-KE4; HKE4; KE4; RING5; SLC39A7; ZIP7", "protein_names_uniprotkb": "Zinc transporter SLC39A7; Histidine-rich membrane protein Ke4; Really interesting new gene 5 protein; Solute carrier family 39 member 7; ZIP7; Zrt-, Irt-like protein 7", "protein_names_refseq": "HLA class II region expressed gene KE4; Ke4 gene, mouse, human homolog of; histidine-rich membrane protein Ke4; really interesting new gene 5 protein; solute carrier family 39 (zinc transporter), member 7; zinc transporter 7; zinc transporter SLC39A7 isoform 1 precursor; zinc transporter SLC39A7; zrt-, Irt-like protein 7", "tax_id": 9606, "disease": "agammaglobulinemia 9 (Disease Ontology:DOID:0081141)", "pathway": " (hsa:7922); (R-HSA-442380)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10364181;10610721;10681536;11237011;11301334;12032886;12068297;12839489;14525538;15322118;15642354;15705588;16083285;16638970;16804107;17359283;17550612;18003899;18088087;18390834;18691976;19265717;19651622;19755388;20068231;22317921;25645385;26811146;26992070;27452731;27920218;28205653;28228285;28514659;28832583;28904123;29242379;29393594;29557506;29980658;30237509;30410026;30718914;31217245;31611695;31844290;32157095;32387766;32488085;32645059;32938616;33298915;33535184;33563959;33608508;33968037;34087483;34171305;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37398635;38217370;38253038;38665916;40596516;8812499", "class_list": "", "function": "Evaluation of the prognostic values of solute carrier (SLC) family 39 genes for patients with lung adenocarcinoma., [RefSeq, PubMed]; SLC39A7 upregulation links to skin fibrosis in systemic sclerosis via TGF-beta/SMAD pathway., [RefSeq, PubMed]; Structure-function analysis of HKE4, a zinc transporter., [RefSeq, PubMed]; The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; Transports Zn(2+) from the endoplasmic reticulum (ER)/Golgi apparatus to the cytosol, playing an essential role in the regulation of cytosolic zinc levels (PubMed:14525538, PubMed:15705588, PubMed:28205653, PubMed:29980658). Acts as a gatekeeper of zinc release from intracellular stores, requiring post-translational activation by phosphorylation, resulting in activation of multiple downstream pathways leading to cell growth and proliferation (PubMed:22317921, PubMed:28205653, PubMed:29980658). Has an essential role in B cell development and is required for proper B cell receptor signaling (PubMed:30718914). Plays an important role in maintaining intestinal epithelial homeostasis and skin dermis development by regulating ER function (By similarity). Controls cell signaling pathways involved in glucose metabolism in skeletal muscle (By similarity). Has a protective role against ER stress in different biological contexts (PubMed:29980658, PubMed:30237509). Mediates Zn(2+)-induced ferroptosis (PubMed:33608508)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Zinc transporter SLC39A7 relieves zinc deficiency to suppress alternative macrophage activation and impairment of phagocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; Zinc transporter ZIP7 is a novel determinant of ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 5, "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": "B0UXF6;Q5STP8;Q9UIQ0", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0046873 metal ion transmembrane transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0098773 skin epidermis development;GO:0030183 B cell differentiation;GO:0006882 intracellular zinc ion homeostasis;GO:0110075 regulation of ferroptosis", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q92504-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BW04-1", "uniprot_id": "SARG_HUMAN", "mass": 63964.0, "length": 601, "protein_name": "Specifically androgen-regulated gene protein", "gene_name": "SARG", "organism": "Human", "refseq_name": "specifically androgen-regulated gene protein isoform 2", "refseq_ac": "NP_001077393", "gene_names_uniprotkb": "SARG; C1orf116", "gene_names_refseq": "C1orf116; SARG", "protein_names_uniprotkb": "Specifically androgen-regulated gene protein", "protein_names_refseq": "specifically androgen-regulated gene protein isoform 2; specifically androgen-regulated gene protein; specifically androgen-regulated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79098)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "15525603;18510355;19651622;23186163;25576301;29485866;29557506;29786170;32157095;32350084;35051231;35580925", "class_list": "", "function": "Putative androgen-specific receptor., [UniProtKB, PubMed]; SARG mRNA expression is high in prostate tissue. SARG is composed of four exons and spans a region of 14.5 kbp on chromosome 1q32.2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "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": "C9JV41;Q658X3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9BW04-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15437-1", "uniprot_id": "SC23B_HUMAN", "mass": 86479.0, "length": 767, "protein_name": "Protein transport protein Sec23B", "gene_name": "SEC23B", "organism": "Human", "refseq_name": "protein transport protein Sec23B isoform 1", "refseq_ac": "NP_001166216", "gene_names_uniprotkb": "SEC23B", "gene_names_refseq": "CDA-II; CDAII; CDAN2; CWS7; HEMPAS; SEC23B; hSec23B", "protein_names_uniprotkb": "Protein transport protein Sec23B; SEC23-related protein B; hSec23B", "protein_names_refseq": "SEC23 homolog B, COPII coat complex component; SEC23 homolog B, coat complex II component; SEC23-like protein B; SEC23-related protein B; protein transport protein Sec23B isoform 1; protein transport protein Sec23B; transport protein SEC23B", "tax_id": 9606, "disease": "craniolenticulosutural dysplasia (Disease Ontology:DOID:0070307); Cowden syndrome 7 (Disease Ontology:DOID:0081003); congenital dyserythropoietic anemia type II (Disease Ontology:DOID:0111401); Roberts syndrome (Disease Ontology:DOID:5325)", "pathway": " (hsa:10483)", "pathway_count": 1, "publication_count": 127, "publication_id_list": "11237011;11782012;15118850;19531498;19561605;19621418;20068231;20112406;20305658;21872626;22223895;22424782;22869377;22898188;23481700;23783831;24714562;24715725;25502872;25505266;25576301;25892735;26024233;26154972;26375851;26522472;26728094;26811146;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28514659;28832583;28834231;28860189;28904123;29161034;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30397120;30410026;30429286;30484775;30573663;30596474;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33159567;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34405274;34433824;34509645;34561969;34932366;35008409;35051231;35154160;35163229;35251023;35318648;35580925;35705054;36010968;36215666;36241641;36284347;37204595;37373084;37938771;38838015;40307207;40914422;8898360", "class_list": "", "function": "Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Congenital Dyserythropoietic Anemia Type II: High Prevalence of c.1385A>G, (p.Tyr462Cys) Mutation in the Indian Population., [RefSeq, PubMed]; New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II. Publication Status: Online-Only, [RefSeq, PubMed]; SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [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": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "D3DW33;Q503A9;Q5W183;Q9BS15;Q9BSI2;Q9H1D7", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0090110 COPII-coated vesicle cargo loading;GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0015031 protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q15437-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0AVT1-1", "uniprot_id": "UBA6_HUMAN", "mass": 117970.0, "length": 1052, "protein_name": "Ubiquitin-like modifier-activating enzyme 6", "gene_name": "UBA6", "organism": "Human", "refseq_name": "ubiquitin-like modifier-activating enzyme 6", "refseq_ac": "NP_060697", "gene_names_uniprotkb": "UBA6; MOP4; UBE1L2", "gene_names_refseq": "E1-L2; MOP-4; UBA6; UBE1L2", "protein_names_uniprotkb": "Ubiquitin-like modifier-activating enzyme 6; 6.2.1.45; E1-L2; MOP-4; Monocyte protein 4; Ubiquitin-activating enzyme 6; Ubiquitin-activating enzyme E1-like protein 2", "protein_names_refseq": "UBA6, ubiquitin-activating enzyme E1; monocyte protein 4; ubiquitin-activating enzyme 6; ubiquitin-activating enzyme E1-like 2; ubiquitin-activating enzyme E1-like protein 2; ubiquitin-like modifier-activating enzyme 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:55236); (R-HSA-8866652); (R-HSA-983168); (R-HSA-9918485)", "pathway_count": 4, "publication_count": 143, "publication_id_list": "11062501;11237011;11337487;11350924;12646216;12682107;14734113;15098107;15202508;15224091;15224092;15507651;15571818;15838506;16142244;16595681;16849449;16954532;17580310;17597759;17889673;18266465;18292551;18353650;18662542;19028597;19352404;19452197;19489725;19608861;19851334;19874575;19940261;20068231;2261476;23084921;23186163;23301498;23481700;23658209;24074594;24366607;24714562;24715725;25422469;25576301;25645385;25880248;26056282;26154972;26212330;26235645;26375851;26468529;26728094;26992070;27600516;27832191;27846572;27862975;27920218;28218747;28228285;28446606;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29351928;29437277;29508533;29557506;29610346;29632046;29632711;29742433;29786170;30315122;30410026;30429286;30779550;31154438;31217245;31373491;31692446;31720911;31844290;31848261;32157095;32265295;32315024;32350084;32357974;32387766;32488085;32497710;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34211107;34320783;34357683;34509645;34725712;34932366;35051231;35154160;35251023;35318648;35580925;35970836;35986001;36010968;36215666;36241641;36284347;37074911;37938771;38474091;38665916;40914422;6277905;6305978;7851534;8010951;9380723;9521656;9668046;9931503", "class_list": "", "function": "Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP (PubMed:35970836, PubMed:35986001). Specific for ubiquitin, does not activate ubiquitin-like peptides. Also activates UBD/FAT10 conjugation via adenylation of its C-terminal glycine (PubMed:17889673, PubMed:35970836, PubMed:35986001). Differs from UBE1 in its specificity for substrate E2 charging. Does not charge cell cycle E2s, such as CDC34. Essential for embryonic development. Isoform 2 may play a key role in ubiquitin system and may influence spermatogenesis and male fertility., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Down-regulation of UBA6 exacerbates brain injury by inhibiting the activation of Notch signaling pathway to promote cerebral cell apoptosis in rat acute cerebral infarction model. Erratum:[Mol Cell Probes. 2021 Dec;60:101773. doi: 10.1016/j.mcp.2021.101773. PMID: 34649757], [RefSeq, PubMed]; Human Uba6 and Ube1 have distinct preferences for E2 charging in vitro, and their specificity depends in part on their C-terminal ubiquitin-fold domains, which recruit E2s, [RefSeq, PubMed]; Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]., [RefSeq]; The identification of an E1-like protein, termed E1-L2, that activates both ubiquitin and another ubiquitin-like protein, FAT10, is reported., [RefSeq, PubMed]; These findings demonstrate that UBA6 and BIRC6 negatively regulate autophagy by limiting the availability of LC3B. Publication Status: Online-Only, [RefSeq, PubMed]; UBA6 Inhibition Accelerates Lysosomal TRPML1 Depletion and Exosomal Secretion in Lung Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; UBA6 and NDFIP1 regulate the degradation of ferroportin. Publication Status: Online-Only, [RefSeq, PubMed]; UBE1L2 is a novel E1 enzyme specific for ubiquitin, [RefSeq, PubMed]; Ubiquitin-like modifier activating enzyme 6 activates not only ubiquitin, but also the ubiquitin-like modifier FAT10[review] Review article, [RefSeq, PubMed]; Ubiquitination-activating enzymes UBE1 and UBA6 regulate ubiquitination and expression of cardiac sodium channel Nav1.5., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 6, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 27, "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": "A6N8M7;B2RAV3;Q4W5K0;Q6UV21;Q86T78;Q86TC7;Q8N5T3;Q8N9E4;Q9H3T7;Q9NVC9", "ec_number_list": "6.2.1.45;2.3.2.24;2.3.2.23;3.4.21.75;2.7.10.1;6.2.1.-;2.3.2.34;6.2.1.64;2.3.2.25", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004839 ubiquitin activating enzyme activity;GO:0019780 FAT10 activating enzyme activity;GO:0008641 ubiquitin-like modifier activating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006974 DNA damage response;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0032446 protein modification by small protein conjugation", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "A0AVT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05181-1", "uniprot_id": "CP2E1_HUMAN", "mass": 56849.0, "length": 493, "protein_name": "Cytochrome P450 2E1", "gene_name": "CYP2E1", "organism": "Human", "refseq_name": "cytochrome P450 2E1", "refseq_ac": "NP_000764", "gene_names_uniprotkb": "CYP2E1; CYP2E", "gene_names_refseq": "CPE1; CYP2E1; CYP2E; P450-J; P450C2E", "protein_names_uniprotkb": "Cytochrome P450 2E1; 1.14.13.n7; 1.14.14.1; 4-nitrophenol 2-hydroxylase; CYPIIE1; Cytochrome P450-J", "protein_names_refseq": "4-nitrophenol 2-hydroxylase; CYPIIE1; cytochrome P450 2E1; cytochrome P450, family 2, subfamily E, polypeptide 1; cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1; cytochrome P450-J; flavoprotein-linked monooxygenase; microsomal monooxygenase; xenobiotic monooxygenase", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); hepatocellular adenoma (Disease Ontology:DOID:0050868); alcohol-associated liver disease (Disease Ontology:DOID:0070658); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); asbestosis (Disease Ontology:DOID:10320); stomach cancer (Disease Ontology:DOID:10534); familial hyperlipidemia (Disease Ontology:DOID:1168); morbid obesity (Disease Ontology:DOID:11981); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); acoustic neuroma (Disease Ontology:DOID:12689); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); drug-induced hepatitis (Disease Ontology:DOID:2044); colon cancer (Disease Ontology:DOID:219); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); middle cerebral artery infarction (Disease Ontology:DOID:3525); liver disease (Disease Ontology:DOID:409); pneumonia (Disease Ontology:DOID:552); hepatocellular carcinoma (Disease Ontology:DOID:684); extrinsic allergic alveolitis (Disease Ontology:DOID:841); oral cavity cancer (Disease Ontology:DOID:8618); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1571); (R-HSA-211981); (R-HSA-211999); (R-HSA-9027307); (R-HSA-9749641); (R-HSA-9753281)", "pathway_count": 6, "publication_count": 110, "publication_id_list": "10220572;10383923;10434065;10553002;10731522;10741631;11237011;11581266;11701230;11714888;12464245;12473676;12616642;12629583;13741103;15196988;15365656;15454734;15469410;15665333;16258079;16359177;1664256;16696573;16837570;16858120;16943252;17482904;17627974;1783992;17924658;18232020;18357469;18577768;18818195;19463;19836360;19842618;19965612;20190787;2025243;21112969;21666065;21712391;21839062;22349737;22406294;22674043;23682772;24715725;25200603;2573352;25840124;2587619;26049587;26067475;26992070;27862975;28677105;29557506;31154438;3233219;32472168;3342084;3395122;34561969;35051231;35580925;36284347;3675576;3705620;37633951;3782137;38479224;39042259;39242607;39342583;497175;5013373;5773090;5862532;6220203;6777177;6838677;6950087;70646;7206363;7217086;7469630;7802672;7903454;8031147;8627510;8637342;8647857;8813074;8975785;9024171;9028626;9058590;9080;9103523;9144407;931988;9348445;9644715;975718;9842986;9884161;9918138", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of fatty acids (PubMed:10553002, PubMed:18577768). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:10553002, PubMed:18577768). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates fatty acids specifically at the omega-1 position displaying the highest catalytic activity for saturated fatty acids (PubMed:10553002, PubMed:18577768). May be involved in the oxidative metabolism of xenobiotics (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; A cytochrome P450 monooxygenase involved in the metabolism of fatty acids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates fatty acids specifically at the omega-1 position displaying the highest catalytic activity for saturated fatty acids. May be involved in the oxidative metabolism of xenobiotics., [UniProtKB, UniProtKB]; CYP2D6, CYP2E1 Gene Polymorphisms and Gastrointestinal Cancer Risk in Rural Maharashtra: A Hospital Based Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; ERRgamma-inducible FGF23 promotes alcoholic liver injury through enhancing CYP2E1 mediated hepatic oxidative stress., [RefSeq, PubMed]; Genetic polymorphisms in FABP2, CYP2E1, and TP53 genes are potentially associated with colorectal cancer susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic steatohepatitis patients of Turkish origin. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]., [RefSeq]; USP14 governs CYP2E1 to promote nonalcoholic fatty liver disease through deubiquitination and stabilization of HSP90AA1. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 32, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VZD5;Q6NWT9;Q9UK47", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;5.4.4.7;1.14.14.74;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130;5.3.99.5", "go_molecular_function": "GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen;GO:0005506 iron ion binding;GO:0019899 enzyme binding;GO:0016491 oxidoreductase activity;GO:0020037 heme binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005743 mitochondrial inner membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0002933 lipid hydroxylation;GO:0016098 monoterpenoid metabolic process;GO:0018885 carbon tetrachloride metabolic process;GO:0018910 benzene metabolic process;GO:0042197 halogenated hydrocarbon metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P05181-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8K8V0-1", "uniprot_id": "ZN785_HUMAN", "mass": 46168.0, "length": 405, "protein_name": "Zinc finger protein 785", "gene_name": "ZNF785", "organism": "Human", "refseq_name": "zinc finger protein 785", "refseq_ac": "NP_689671", "gene_names_uniprotkb": "ZNF785", "gene_names_refseq": "ZNF785", "protein_names_uniprotkb": "Zinc finger protein 785", "protein_names_refseq": "zinc finger protein 785", "tax_id": 9606, "disease": "", "pathway": " (hsa:146540); (R-HSA-212436)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25418920;26063658;28228285;28649982;28832583;28904123;29242379;30315122;30429286;31217245;31844290;32357974;32502341;33537174;33912179;34932366;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": 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": "O75701;Q8IW91;Q8WV14;Q96MN0", "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": 3.1, "record_id": "A8K8V0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96KN2-1", "uniprot_id": "CNDP1_HUMAN", "mass": 56692.0, "length": 507, "protein_name": "Beta-Ala-His dipeptidase", "gene_name": "CNDP1", "organism": "Human", "refseq_name": "beta-Ala-His dipeptidase precursor", "refseq_ac": "NP_116038", "gene_names_uniprotkb": "CNDP1; CN1; CPGL2; PRO4380", "gene_names_refseq": "CN1; CNDP1; CPGL2; HsT2308", "protein_names_uniprotkb": "Beta-Ala-His dipeptidase; 3.4.13.20; CNDP dipeptidase 1; Carnosine dipeptidase 1; Glutamate carboxypeptidase-like protein 2; Serum carnosinase", "protein_names_refseq": "CNDP dipeptidase 1; beta-Ala-His dipeptidase precursor; beta-Ala-His dipeptidase; carnosinase 1; carnosine dipeptidase 1 (metallopeptidase M20 family); glutamate carboxypeptidase-like protein 2; serum carnosinase", "tax_id": 9606, "disease": "glomerulonephritis (Disease Ontology:DOID:2921)", "pathway": " (hsa:84735)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;12473676;12975309;16046297;16335952;1903095;23090970;24891507;25645385;27893789;29391424;29671580;29741879;30459171;32733966;32803273;33811534;36637795;37074911;6616870;7116644", "class_list": "", "function": "Catalyzes the peptide bond hydrolysis in Xaa-His dipeptides, displaying the highest activity toward carnosine (beta-alanyl-L-histidine)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Correlation between serum carnosinase concentration and renal damage in diabetic nephropathy patients., [RefSeq, PubMed]; Exploring the structural and dynamic differences between human carnosinase I (CN1) and II (CN2)., [RefSeq, PubMed]; Genotype Distribution of CNDP1 Polymorphisms in the Healthy Chinese Han Population: Association with HbA1c and Fasting Blood Glucose. Publication Status: Online-Only, [RefSeq, PubMed]; Human carnosinase 1 overexpression aggravates diabetes and renal impairment in BTBR(Ob/Ob) mice., [RefSeq, PubMed]; This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 24, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q14D40;Q17S05;Q2TBG0;Q6UWK2;Q9BT98", "ec_number_list": "3.4.13.20", "go_molecular_function": "GO:0046872 metal ion binding;GO:0070573 metallodipeptidase activity;GO:0016805 dipeptidase activity;GO:0004180 carboxypeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0051246 regulation of protein metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q96KN2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P26992-1", "uniprot_id": "CNTFR_HUMAN", "mass": 40633.0, "length": 372, "protein_name": "Ciliary neurotrophic factor receptor subunit alpha", "gene_name": "CNTFR", "organism": "Human", "refseq_name": "ciliary neurotrophic factor receptor subunit alpha preproprotein", "refseq_ac": "NP_001193940", "gene_names_uniprotkb": "CNTFR", "gene_names_refseq": "CNTFR", "protein_names_uniprotkb": "Ciliary neurotrophic factor receptor subunit alpha; CNTF receptor subunit alpha; CNTFR-alpha", "protein_names_refseq": "CNTF receptor subunit alpha; CNTFR-alpha; ciliary neurotrophic factor receptor subunit alpha preproprotein", "tax_id": 9606, "disease": "sensorineural hearing loss (Disease Ontology:DOID:10003); essential hypertension (Disease Ontology:DOID:10825); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:1271); (R-HSA-6788467)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10586060;10812968;10966616;11237011;11285233;11294841;11834704;11943154;12601009;12707266;12811586;15450249;15519241;16051226;1648265;17272411;19386761;19920145;20219210;21715184;26858303;2779549;29557506;31932351;33105352;33131268;35051231;35580925;36010968;36930708;37938771;7670098;7681218;7738033;7774913;7852997;7862649;7957045;8119965;8272873;8390097;8627290;8637716;9238703", "class_list": "", "function": "Ciliary Neurotrophic Factor Receptor rs41274853 Polymorphism Is Associated With Weightlifting Performance in Japanese Weightlifters., [RefSeq, PubMed]; Ciliary neurotrophic factor (CNTF) and its receptor (CNTFRalpha) signal through MAPK/ERK pathway in human prostate tissues: a morphological and biomolecular study. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that variants in CNTFR were significantly associated with a lower age at onset of the eating disorders. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Functions either as a membrane-anchored non-signaling receptor via a GPI anchor or, after proteolytic release, as a soluble ligand-binding chaperone, and mediates signaling of CNTF-related cytokines, including ciliary neurotrophic factor (CNTF), cardiotrophin-like cytokine factor 1 (CLCF1), and the heterodimeric cytokine formed by CLCF1 and the cytokine receptor-like factor 1 (CRLF1) (PubMed:10966616, PubMed:11285233, PubMed:11294841, PubMed:26858303, PubMed:31932351, PubMed:36930708, PubMed:7681218). Involved namely in cell survival of motor neurons and regulation of oligodendrocyte progenitor proliferation (PubMed:11285233, PubMed:19386761, PubMed:31932351). Functions within the ciliary neurotrophic factor receptor (CNTFR) complex as a membrane-anchored non-signaling receptor subunit associated with two other signaling receptor subunits IL6ST/gp130 and LIFR (PubMed:10966616, PubMed:11285233, PubMed:11294841, PubMed:26858303, PubMed:31932351, PubMed:36930708, PubMed:7681218). Also, functions within the humanin receptor complex as a membrane-anchored non-signaling receptor subunit associated with IL6ST/GP130 and IL27RA/WSX1 that mediates the MT-RNR2/humanin signaling which induces neuroprotection (PubMed:19386761). Alternatively functions as a soluble ligand-binding chaperone that binds ligand in the extracellular space, forming a cytokine complex which is delivered to the IL6ST/gp130 and LIFR signaling receptor subunits (PubMed:11285233, PubMed:31932351, PubMed:7681218). Mechanistically, ligand binding to the CNTFR induces dimerization of the IL6ST/gp130 and LIFR (or IL27RA/WSX1 in the case of MT-RNR2/humanin), which activate JAK tyrosine kinases (JAK1 or JAK2 and to lesser extent TYK2) bound to their intracellular domains (PubMed:10966616, PubMed:11285233, PubMed:11294841, PubMed:19386761, PubMed:7681218). These kinases subsequently phosphorylate IL6ST/gp130 and LIFR (or IL27RA/WSX1) (PubMed:10966616, PubMed:11285233, PubMed:11294841, PubMed:7681218). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activators of transcription (STAT3 and to lesser extent STAT1) (PubMed:10966616, PubMed:11285233, PubMed:11294841, PubMed:19386761, PubMed:7681218)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the type 1 cytokine receptor family. The encoded protein is the ligand-specific component of a tripartite receptor for ciliary neurotrophic factor, which plays a critical role in neuronal cell survival, differentiation and gene expression. Binding of ciliary neurotrophic factor to the encoded protein recruits the transmembrane components of the receptor, gp130 and leukemia inhibitory factor receptor, facilitating signal transduction. Single nucleotide polymorphisms in this gene may be associated with variations in muscle strength, as well as early onset of eating disorders. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5U050", "ec_number_list": "", "go_molecular_function": "GO:0004897 ciliary neurotrophic factor receptor activity;GO:0004921 interleukin-11 receptor activity;GO:0019970 interleukin-11 binding;GO:0005102 signaling receptor binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0070110 ciliary neurotrophic factor receptor complex;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0070120 ciliary neurotrophic factor-mediated signaling pathway;GO:0070446 negative regulation of oligodendrocyte progenitor proliferation;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P26992-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHB4-1", "uniprot_id": "NDOR1_HUMAN", "mass": 66763.0, "length": 597, "protein_name": "NADPH-dependent diflavin oxidoreductase 1", "gene_name": "NDOR1", "organism": "Human", "refseq_name": "NADPH-dependent diflavin oxidoreductase 1 isoform a", "refseq_ac": "NP_001137498", "gene_names_uniprotkb": "NDOR1; NR1", "gene_names_refseq": "CIAE1; NDOR1; NR1; bA350O14.9", "protein_names_uniprotkb": "NADPH-dependent diflavin oxidoreductase 1; 1.18.1.-; NADPH-dependent FMN and FAD-containing oxidoreductase; Novel reductase 1", "protein_names_refseq": "NADPH-dependent FMN and FAD-containing oxidoreductase; NADPH-dependent diflavin oxidoreductase 1 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:27158); (R-HSA-2564830)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10625700;12631275;12871938;12871939;15900210;16140270;18573874;18625724;20802492;22645359;22678361;22678362;23150669;23596212;24715725;25576301;26992070;27846572;27920218;28218747;28228285;28648056;28832583;28904123;29242379;29351928;29493099;29557506;30315122;30379171;30429286;31092671;31530632;31844290;31848261;32161166;32938616;33141586;33592498;33691108;33912179;33936100;33968037;34211107;35051231;35580925", "class_list": "", "function": "Characterized in detail the redox and electron transfer properties of the component flavin-binding domains of protein NR1, [RefSeq, PubMed]; NADPH-dependent reductase which is a central component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery (PubMed:10625700, PubMed:15900210, PubMed:20802492, PubMed:23596212, PubMed:28648056). Transfers electrons from NADPH via its FAD and FMN prosthetic groups to the [2Fe-2S] cluster of CIAPIN1, another key component of the CIA machinery (PubMed:20802492, PubMed:23596212, PubMed:28648056). In turn, this reduced cluster provides electrons for assembly of cytosolic iron-sulfur cluster proteins (PubMed:20802492, PubMed:23596212). It can also reduce the [2Fe-2S] cluster of CISD1 and activate this protein implicated in Fe/S cluster repair (PubMed:28648056). In vitro can fully activate methionine synthase/MTR in the presence of soluble cytochrome b5/CYB5A (PubMed:12871938)., [UniProtKB, HAMAP, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NR1 may represent a minor pathway in the cell for redox regulation of methionine synthase, [RefSeq, PubMed]; This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3YTG6;D3YTH9;Q5VSG4;Q86US9;Q96BC6", "ec_number_list": "1.18.1.-", "go_molecular_function": "GO:0009055 electron transfer activity;GO:0050660 flavin adenine dinucleotide binding;GO:0071949 FAD binding;GO:0016491 oxidoreductase activity;GO:0070402 NADPH binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0034599 cellular response to oxidative stress;GO:0022900 electron transport chain", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9UHB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60329-1", "uniprot_id": "KR124_HUMAN", "mass": 11433.0, "length": 112, "protein_name": "Keratin-associated protein 12-4", "gene_name": "KRTAP12-4", "organism": "Human", "refseq_name": "keratin-associated protein 12-4", "refseq_ac": "NP_941971", "gene_names_uniprotkb": "KRTAP12-4; KAP12.4; KRTAP12.4", "gene_names_refseq": "KRTAP12-4; KRTAP12.4", "protein_names_uniprotkb": "Keratin-associated protein 12-4; High sulfur keratin-associated protein 12.4; Keratin-associated protein 12.4", "protein_names_refseq": "high sulfur keratin-associated protein 12.4; keratin-associated protein 12-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:386684); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "14962103;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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q08AF5", "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": 1.3, "record_id": "P60329-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75690-1", "uniprot_id": "KRA58_HUMAN", "mass": 17519.0, "length": 187, "protein_name": "Keratin-associated protein 5-8", "gene_name": "KRTAP5-8", "organism": "Human", "refseq_name": "keratin-associated protein 5-8", "refseq_ac": "NP_066384", "gene_names_uniprotkb": "KRTAP5-8; KAP5.8; KRTAP5.8; UHSKB", "gene_names_refseq": "KRTAP5-2; KRTAP5-8; KRTAP5.8; UHSKerB", "protein_names_uniprotkb": "Keratin-associated protein 5-8; Keratin, ultra high-sulfur matrix protein B; Keratin-associated protein 5.8; UHS KerB; UHS keratin B; Ultrahigh sulfur keratin-associated protein 5.8", "protein_names_refseq": "UHS KERB-like protein; UHS KerB; UHS keratin B; keratin, ultra high-sulfur matrix protein B; keratin, ultrahigh sulfur, B; keratin-associated protein 5-8; keratin-associated protein 5.8; ultrahigh sulfur keratin-associated protein 5.8", "tax_id": 9606, "disease": "", "pathway": " (hsa:57830); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10023043;15144888;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 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q6L8G7;Q6UTX6", "ec_number_list": "", "go_molecular_function": "GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "O75690-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30613-1", "uniprot_id": "KPYR_HUMAN", "mass": 61830.0, "length": 574, "protein_name": "Pyruvate kinase PKLR", "gene_name": "PKLR", "organism": "Human", "refseq_name": "pyruvate kinase PKLR isoform 1", "refseq_ac": "NP_000289", "gene_names_uniprotkb": "PKLR; PK1; PKL", "gene_names_refseq": "CNSHA2; PK1; PKLR; PKL; PKRL; RPK", "protein_names_uniprotkb": "Pyruvate kinase PKLR; 2.7.1.40; Pyruvate kinase 1; Pyruvate kinase isozymes L/R; R-type/L-type pyruvate kinase; Red cell/liver pyruvate kinase", "protein_names_refseq": "R-type/L-type pyruvate kinase; pyruvate kinase 1; pyruvate kinase PKLR isoform 1; pyruvate kinase PKLR; pyruvate kinase isozyme R/L; pyruvate kinase isozymes L/R; pyruvate kinase isozymes R/L; pyruvate kinase type L; pyruvate kinase, liver and RBC; pyruvate kinase, liver and blood cell; red cell/liver pyruvate kinase", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); congenital nonspherocytic hemolytic anemia 2 (Disease Ontology:DOID:0111077); malaria (Disease Ontology:DOID:12365); Gaucher's disease (Disease Ontology:DOID:1926); congenital nonspherocytic hemolytic anemia (Disease Ontology:DOID:2861); hyperglycemia (Disease Ontology:DOID:4195); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pyruvate kinase hyperactivity (MONDO:MONDO:0007067)", "pathway": " (hsa:5313)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10087985;10772876;11237011;11328279;11960989;1445295;1536957;17081983;17360088;1896471;19085939;20068230;20068231;2018831;21794208;22564745;22898188;23186163;24275569;24714562;25576301;26992070;27294321;29242379;29557506;29771506;30397120;3126495;32157095;33298915;33592498;33717175;34171305;34433824;3566732;36010968;36038921;36586017;36892591;36963289;37217939;38581917;39302247;7706479;8161798;8180378;8476433;8481523;8483951;8664896;8807089;9075576;9090535;9482576;9827908;9886305", "class_list": "", "function": "FLI1 accelerates leukemogenesis through transcriptional regulation of pyruvate kinase-L/R and other glycolytic genes. Publication Status: Online-Only, [RefSeq, PubMed]; Genotype-phenotype association in pyruvate kinase deficiency [review] Review article, [RefSeq, PubMed]; Haematological profile of malaria patients with G6PD and PKLR variants (erythrocytic enzymopathies): a cross-sectional study in Thailand. Publication Status: Online-Only, [RefSeq, PubMed]; PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G > A and c.1058delAAG variants., [RefSeq, PubMed]; Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis (PubMed:11960989). Also produces the side product 2-phospholactate which can inhibit fructose-2,6-bisphosphate production (PubMed:27294321). 2-phospholactate can be dephosphorylated by PGP which prevents the inhibition of fructose-2,6-bisphosphate production and allows glycolysis to occur (PubMed:27294321)., [UniProtKB, PubMed, PubMed]; Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population., [RefSeq, PubMed]; Targeting PKLR/MYCN/ROMO1 signaling suppresses neuroendocrine differentiation of castration-resistant prostate cancer., [RefSeq, PubMed]; The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O75758;P11973", "ec_number_list": "2.7.10.2;2.7.11.1;2.7.1.40", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016301 kinase activity;GO:0030955 potassium ion binding;GO:0004743 pyruvate kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042866 pyruvate biosynthetic process;GO:0007584 response to nutrient;GO:0032869 cellular response to insulin stimulus;GO:0001666 response to hypoxia;GO:0009749 response to glucose", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P30613-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15013-1", "uniprot_id": "MD2BP_HUMAN", "mass": 31052.0, "length": 274, "protein_name": "MAD2L1-binding protein", "gene_name": "MAD2L1BP", "organism": "Human", "refseq_name": "MAD2L1-binding protein isoform 1", "refseq_ac": "NP_001003690", "gene_names_uniprotkb": "MAD2L1BP; CMT2; KIAA0110", "gene_names_refseq": "CMT2; MAD2L1BP; p31comet", "protein_names_uniprotkb": "MAD2L1-binding protein; Caught by MAD2 protein; p31(comet)", "protein_names_refseq": "MAD2L1-binding protein isoform 1; caught by MAD2 protein; p31(comet)", "tax_id": 9606, "disease": "", "pathway": " (hsa:9587)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "12456649;15257285;17525332;18022368;18669648;23186163;26154972;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29632046;30315122;30429286;30833945;31118282;31154438;31530632;31844290;32157095;32161166;32387766;32488085;32938616;33051298;33298915;33592498;33912179;33968037;34932366;35051231;35580925;37334967;37796616", "class_list": "", "function": "Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Biallelic variants in MAD2L1BP (p31[comet]) cause female infertility characterized by oocyte maturation arrest. Publication Status: Online-Only, [RefSeq, PubMed]; May function to silence the spindle checkpoint and allow mitosis to proceed through anaphase by binding MAD2L1 after it has become dissociated from the MAD2L1-CDC20 complex., [UniProtKB, PubMed]; P31(comet) promotes homologous recombination by inactivating REV7 through the TRIP13 ATPase., [RefSeq, PubMed]; P31(comet, formerly known as Cmt2) counteracts the function of Mad2 and is required for the silencing of the spindle checkpoint, [RefSeq, PubMed]; The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DLV3;E9PAT7;Q6IBB1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005819 spindle", "go_biological_process": "GO:1902426 deactivation of mitotic spindle assembly checkpoint;GO:0007096 regulation of exit from mitosis", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q15013-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5XKR4-1", "uniprot_id": "OTP_HUMAN", "mass": 34159.0, "length": 325, "protein_name": "Homeobox protein orthopedia", "gene_name": "OTP", "organism": "Human", "refseq_name": "homeobox protein orthopedia", "refseq_ac": "NP_115485", "gene_names_uniprotkb": "OTP", "gene_names_refseq": "OTP", "protein_names_uniprotkb": "Homeobox protein orthopedia", "protein_names_refseq": "homeobox protein orthopedia; orthopedia homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:23440)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10458915;22366991;23444222;26927888;28063628;29107289;29316326;29632046;30284410;34357683;35051231", "class_list": "", "function": "Data indicate that low mRNA expression levels of CD44 and orthopedia homeobox (OTP) and high levels of RET, were strongly associated with a low 20-year survival of carcinoid patients., [RefSeq, PubMed]; Half of the pulmonary TC tumors expressed OTP., [RefSeq, PubMed]; Orthopedia protein (OTP) is specific for lung carcinoids because well-differentiated nonlung neuroendocrine tumors are negative for OTP. OTP preferentially stains typical carcinoids over atypical carcinoids, [RefSeq, PubMed]; Our results suggest that OTP may serve as a useful diagnostic marker for lung carcinoid tumors., [RefSeq, PubMed]; Probably involved in the differentiation of hypothalamic neuroendocrine cells., [UniProtKB]; This gene encodes a member of the homeodomain (HD) family. HD family proteins are helix-turn-helix transcription factors that play key roles in the specification of cell fates. This protein may function during brain development. [provided by RefSeq, Jul 2008]., [RefSeq]; We successfully identified a novel gene OTP frequently methylated in breast cancer by genome-wide screening. Our results suggest that the OTP gene may play a crucial role in breast carcinogenesis., [RefSeq, PubMed]; We tested the functional consequences of the novel human OTP mutations and Q83K as well as the mouse R108W mutant; all affect residues that are highly conserved across species. On a single site response element, wild-type OTP was found to act as a repressor; both R108W and Q153R abolished this repression, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5XKR4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29973-1", "uniprot_id": "CNGA1_HUMAN", "mass": 79126.0, "length": 686, "protein_name": "Cyclic nucleotide-gated channel alpha-1", "gene_name": "CNGA1", "organism": "Human", "refseq_name": "cyclic nucleotide-gated channel alpha-1", "refseq_ac": "NP_000078", "gene_names_uniprotkb": "CNGA1; CNCG1; CNCG", "gene_names_refseq": "CNCG1; CNCG; CNG-1; CNG1; CNGA1; RCNC1; RCNCalpha; RCNCa; RP49", "protein_names_uniprotkb": "Cyclic nucleotide-gated channel alpha-1; CNG channel alpha-1; CNG-1; CNG1; Cyclic nucleotide-gated channel, photoreceptor; Rod photoreceptor cGMP-gated cation channel subunit alpha; cGMP-gated cation channel alpha-1", "protein_names_refseq": "CNG channel alpha-1; cGMP-gated cation channel alpha-1; cyclic nucleotide gated channel alpha 1; cyclic nucleotide-gated cation channel 1; cyclic nucleotide-gated channel alpha-1; cyclic nucleotide-gated channel, photoreceptor; interleukin-1 homologue; rod photoreceptor cGMP-gated cation channel subunit alpha; rod photoreceptor cGMP-gated channel subunit alpha", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); retinitis pigmentosa 49 (Disease Ontology:DOID:0110377); retinitis pigmentosa (Disease Ontology:DOID:10584); cancer (Disease Ontology:DOID:162); high grade glioma (Disease Ontology:DOID:3070)", "pathway": " (hsa:1259); (R-HSA-2485179); (R-HSA-2514859)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10037746;10051575;10564809;10676965;11237011;11292825;11601986;11687658;11713293;11754336;11764791;12036349;12119397;12432397;12467591;12467592;12499365;12825937;1356371;1372902;1379636;1387789;1436039;14702087;15570217;15946941;1614872;16274222;16460277;16895762;16908407;17114291;1720239;1722240;17636946;18803695;19818506;1999465;20430952;20850105;20975703;2155175;2161380;22658984;2422346;2457685;2467600;2473195;2540796;2550422;2558719;2578616;2748346;2835761;2837463;3006923;3095147;31154438;3164688;32705276;33332786;33633220;33651975;34699778;34971760;3933561;4359491;4361997;4366891;4772407;6264430;6930647;7479749;7525588;7526403;7532814;7644482;7670478;7678445;7682292;7777544;7983048;8382952;8494894;8500562;8626439;8673138;8706659;8812493;8913594;9119368;9353336;9430683;9459445;9478004;9506952", "class_list": "", "function": "A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide Association Analysis Across 16,956 Patients Identifies a Novel Genetic Association Between BMP6, NIPAL1, CNGA1 and Spondylosis., [RefSeq, PubMed]; Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa., [RefSeq, PubMed]; Pore-forming subunit of the rod cyclic nucleotide-gated channel. Mediates rod photoresponses at dim light converting transient changes in intracellular cGMP levels into electrical signals. In the dark, cGMP levels are high and keep the channel open enabling a steady inward current carried by Na(+) and Ca(2+) ions that leads to membrane depolarization and neurotransmitter release from synaptic terminals. Upon photon absorption cGMP levels decline leading to channel closure and membrane hyperpolarization that ultimately slows neurotransmitter release and signals the presence of light, the end point of the phototransduction cascade. Conducts cGMP- and cAMP-gated ion currents, with permeability for monovalent and divalent cations. The selectivity for Ca(2+) over Na(+) increases with cGMP concentrations, whereas the selectivity among monovalent ions is independent of the cGMP levels., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Structural basis of the partially open central gate in the human CNGA1/CNGB1 channel explained by additional density for calmodulin in cryo-EM map., [RefSeq, PubMed]; The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]., [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": 1, "reported_glycation": 0, "reported_snv": 23, "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": "A8K7K6;J3KPZ2;Q16279;Q16485;Q4W5E3", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005223 intracellularly cGMP-activated cation channel activity;GO:0005272 sodium channel activity;GO:0005222 intracellularly cAMP-activated cation channel activity;GO:0030552 cAMP binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042622 photoreceptor outer segment membrane;GO:0017071 intracellular cyclic nucleotide activated cation channel complex;GO:0120200 rod photoreceptor outer segment", "go_biological_process": "GO:0006816 calcium ion transport;GO:0007601 visual perception;GO:0098655 monoatomic cation transmembrane transport;GO:0006814 sodium ion transport;GO:0007606 sensory perception of chemical stimulus", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P29973-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20853-1", "uniprot_id": "CP2A7_HUMAN", "mass": 56425.0, "length": 494, "protein_name": "Cytochrome P450 2A7", "gene_name": "CYP2A7", "organism": "Human", "refseq_name": "cytochrome P450 2A7 isoform 1", "refseq_ac": "NP_000755", "gene_names_uniprotkb": "CYP2A7", "gene_names_refseq": "CPA7; CPAD; CYP2A7; CYP2A; CYPIIA7; P450-IIA4", "protein_names_uniprotkb": "Cytochrome P450 2A7; 1.14.14.1; CYPIIA7; Cytochrome P450 IIA4", "protein_names_refseq": "cytochrome P450 2A7 isoform 1; cytochrome P450 2A7; cytochrome P450 IIA4; cytochrome P450, family 2, subfamily A, polypeptide 7; cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7; cytochrome P450IIA4", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); lacrimoauriculodentodigital syndrome 1 (Disease Ontology:DOID:0050331); Beare-Stevenson cutis gyrata syndrome (Disease Ontology:DOID:0050660); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); bent bone dysplasia syndrome 1 (Disease Ontology:DOID:0060992); bone disease (Disease Ontology:DOID:0080001); Antley-Bixler syndrome (Disease Ontology:DOID:0081289); Antley-Bixler syndrome without disordered steroidogenesis (Disease Ontology:DOID:0081290); Jackson-Weiss syndrome (Disease Ontology:DOID:0111337); prostate cancer (Disease Ontology:DOID:10283); intestinal atresia (Disease Ontology:DOID:10486); stomach cancer (Disease Ontology:DOID:10534); retinitis pigmentosa (Disease Ontology:DOID:10584); portal hypertension (Disease Ontology:DOID:10762); essential hypertension (Disease Ontology:DOID:10825); hypospadias (Disease Ontology:DOID:10892); urinary bladder cancer (Disease Ontology:DOID:11054); acrocephalosyndactylia (Disease Ontology:DOID:12960); primary pulmonary hypertension (Disease Ontology:DOID:14557); Pfeiffer syndrome (Disease Ontology:DOID:14705); Saethre-Chotzen syndrome (Disease Ontology:DOID:14768); breast cancer (Disease Ontology:DOID:1612); squamous cell carcinoma (Disease Ontology:DOID:1749); transient cerebral ischemia (Disease Ontology:DOID:224); Crouzon syndrome (Disease Ontology:DOID:2339); craniosynostosis (Disease Ontology:DOID:2340); transitional cell carcinoma (Disease Ontology:DOID:2671); endometriosis (Disease Ontology:DOID:289); high grade glioma (Disease Ontology:DOID:3070); dysgerminoma (Disease Ontology:DOID:4441); stomach carcinoma (Disease Ontology:DOID:5517); hepatocellular carcinoma (Disease Ontology:DOID:684); female breast carcinoma (Disease Ontology:DOID:7843); intestinal volvulus (Disease Ontology:DOID:8445); Kaposi's sarcoma (Disease Ontology:DOID:8632)", "pathway": " (hsa:1549); (R-HSA-211935); (R-HSA-211981); (R-HSA-211999)", "pathway_count": 4, "publication_count": 41, "publication_id_list": "10383923;10731522;10741631;11162607;11237011;11701230;12464245;12629583;15006160;15196988;15365656;15454734;15665333;16359177;1664256;2025243;21209280;2322567;25710939;28145423;29557506;29767774;39894887;497175;6220203;7217086;7668294;7903454;8627510;8631948;8637342;8647857;8913342;8914854;8975785;9028626;9103523;9600267;9644715;9842986;9884161", "class_list": "", "function": "CNV deletion at the CYP2A7 is associated with decreased ovarian cancer risk in BRCA1 carriers. Erratum:[Eur J Hum Genet. 2019 Jan;27(1):167-168. doi: 10.1038/s41431-018-0216-1. PMID: 30135485], [RefSeq, PubMed]; CYP2A7 affects CYP2A6 expression by competing for miR-126* binding., [RefSeq, PubMed]; Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics., [UniProtKB]; Single nucleotide polymorphism in CYP2A7 gene is associated with smoking in whites with Chronic Obstructive Pulmonary Disease., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [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": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 35, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q13121", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;5.4.4.7;1.14.14.74;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130;5.3.99.5", "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen;GO:0008392 arachidonate epoxygenase activity;GO:0019825 oxygen binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0019373 epoxygenase P450 pathway;GO:0009804 coumarin metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P20853-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12766-1", "uniprot_id": "HMGX3_HUMAN", "mass": 141106.0, "length": 1292, "protein_name": "HMG domain-containing protein 3", "gene_name": "HMGXB3", "organism": "Human", "refseq_name": "HMG domain-containing protein 3 isoform 1", "refseq_ac": "NP_055798", "gene_names_uniprotkb": "HMGXB3; KIAA0194; SMF", "gene_names_refseq": "HMGX3; HMGXB3; SMF", "protein_names_uniprotkb": "HMG domain-containing protein 3; HMG box-containing protein 3; Protein SMF", "protein_names_refseq": "HMG box domain containing 3; HMG domain-containing protein 3 isoform 1; HMG domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:22993)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;22544926;30779550;31092671;32157095;32897882;32938616;32983136;33298915;33968037;34155128;34274607;34509645;35051231;35254053;35580925;36010968;36215666;37217939;9027509", "class_list": "", "function": "Circular RNA EGLN3 silencing represses renal cell carcinoma progression through the miR-1224-3p/HMGXB3 axis., [RefSeq, PubMed]; Regulation of closely juxtaposed proto-oncogene c-fms and HMGXB3 gene expression by mRNA 3' end polymorphism in breast cancer cells., [RefSeq, PubMed]; This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "G5E9Y4;Q86UG3;Q9UMF4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q12766-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01581-1", "uniprot_id": "HMCS1_HUMAN", "mass": 57294.0, "length": 520, "protein_name": "Hydroxymethylglutaryl-CoA synthase, cytoplasmic", "gene_name": "HMGCS1", "organism": "Human", "refseq_name": "hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1", "refseq_ac": "NP_001091742", "gene_names_uniprotkb": "HMGCS1; HMGCS", "gene_names_refseq": "CMYO28; HMGCS1; HMGCS", "protein_names_uniprotkb": "Hydroxymethylglutaryl-CoA synthase, cytoplasmic; 2.3.3.10; 3-hydroxy-3-methylglutaryl coenzyme A synthase; HMG-CoA synthase", "protein_names_refseq": "3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase; 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble); 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble); hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1; hydroxymethylglutaryl-CoA synthase, cytoplasmic", "tax_id": 9606, "disease": "congenital myopathy 28 (Disease Ontology:DOID:0061259); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3157); (R-HSA-1989781); (R-HSA-2426168); (R-HSA-9969896)", "pathway_count": 4, "publication_count": 200, "publication_id_list": "10026212;10400691;10620343;10666321;10759542;10777541;10896663;11160603;11237011;11267664;11414710;12083769;12118000;12177166;12505311;12582161;12764144;1358203;1377680;14729858;14730012;14766201;15067378;15130092;15635043;16380219;16464866;16519518;16684881;16972786;17081983;17449569;17925399;18327899;18452278;18491316;18540824;18559965;18654640;18669648;18682402;18719978;18726356;18848529;18937434;19088433;19413330;19608861;19651622;19664994;19664995;1968462;19690332;19710929;19748539;19934321;20068231;20110263;20138239;20166139;20230923;20346956;20394422;20450493;20719759;20937905;21406692;21420384;22634312;22898188;23186163;23481700;24196956;24275569;24714562;24715725;25418920;25645385;25810538;25880248;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30779550;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33246356;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;34725712;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36702290;36734275;37938771;38308184;38608446;38665916;39235443;39531736;40914422;5918048;7567999;7592729;7685352;7732023;7892212;7909540;7911016;7913309;8020941;8593458;8619637;8626466;8626488;8647822;8663599;8798690;8806705;8976377;9012850;9099716;9380443;9604010;9634533;9741684;9748239;9748295", "class_list": "", "function": "CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation., [RefSeq, PubMed]; Catalyzes the condensation of acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate, a precursor for cholesterol synthesis., [UniProtKB, PubMed, PubMed]; Catalyzes the condensation of acetyl-CoA with acetoacetyl-CoA to form HMG-CoA., [UniProtKB, UniProtKB]; Circular RNA HMGCS1 sponges MIR4521 to aggravate type 2 diabetes-induced vascular endothelial dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Decreased HMGCS1 inhibits proliferation and inflammatory response of keratinocytes and ameliorates imiquimod-induced psoriasis via the STAT3/IL-23 axis., [RefSeq, PubMed]; P4HA1 activates HMGCS1 to promote nasopharyngeal carcinoma ferroptosis resistance and progression., [RefSeq, PubMed]; VIMAS1 promotes proliferation and drives enzalutamide resistance in prostate cancer via IGF2BP2mediated HMGCS1 mRNA stabilization., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RDL8", "ec_number_list": "2.3.3.10;2.3.1.48;3.6.4.-;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:0042803 protein homodimerization activity;GO:0004421 hydroxymethylglutaryl-CoA synthase activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006084 acetyl-CoA metabolic process;GO:0006695 cholesterol biosynthetic process;GO:0019287 isopentenyl diphosphate biosynthetic process, mevalonate pathway;GO:0033386 geranylgeranyl diphosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "Q01581-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07315-1", "uniprot_id": "CRGC_HUMAN", "mass": 20879.0, "length": 174, "protein_name": "Gamma-crystallin C", "gene_name": "CRYGC", "organism": "Human", "refseq_name": "gamma-crystallin C", "refseq_ac": "NP_066269", "gene_names_uniprotkb": "CRYGC; CRYG3", "gene_names_refseq": "CCL; CRYG3; CRYGC; CTRCT2", "protein_names_uniprotkb": "Gamma-crystallin C; Gamma-C-crystallin; Gamma-crystallin 2-1; Gamma-crystallin 3", "protein_names_refseq": "gamma-crystallin 2-1; gamma-crystallin 3; gamma-crystallin C", "tax_id": 9606, "disease": "cataract 2 multiple types (Disease Ontology:DOID:0110235); cataract (Disease Ontology:DOID:83); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:1420)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10521291;10914683;12011157;12060738;12507494;12601044;12876325;18587492;21423869;22052681;22876111;2777080;29331515;29386872;29914532;30379171;33243271;33278449;33392160;33422942;37184593;4033658;4065573;8943244;8999933", "class_list": "", "function": "Cataract-causing mutations L45P and Y46D impair the thermal stability of gammaC-crystallin., [RefSeq, PubMed]; Cataract-causing mutations L45P and Y46D promote gammaC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif., [RefSeq, PubMed]; Crystallins are the dominant structural components of the vertebrate eye lens., [UniProtKB]; The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human gammaC-Crystallin Causing Congenital Nuclear Cataracts., [RefSeq, PubMed]; This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "Q53R50", "ec_number_list": "", "go_molecular_function": "GO:0005212 structural constituent of eye lens", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007601 visual perception;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P07315-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H213-1", "uniprot_id": "MAGH1_HUMAN", "mass": 24441.0, "length": 219, "protein_name": "Melanoma-associated antigen H1", "gene_name": "MAGEH1", "organism": "Human", "refseq_name": "melanoma-associated antigen H1", "refseq_ac": "NP_054780", "gene_names_uniprotkb": "MAGEH1; APR1", "gene_names_refseq": "APR-1; APR1; MAGEH1; MAGEH", "protein_names_uniprotkb": "Melanoma-associated antigen H1; APR-1; Apoptosis-related protein 1; MAGE-H1 antigen; Restin", "protein_names_refseq": "apoptosis-related protein 1; melanoma antigen family H, 1; melanoma antigen family H1; melanoma-associated antigen H1; restin", "tax_id": 9606, "disease": "", "pathway": " (hsa:28986)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10948432;11454705;25505266;26375851;26572808;27862975;28832583;29242379;29316827;29557506;29786170;30429286;31154438;31530632;31844290;31848261;32350084;32488085;32502341;33592498;33936100;33968037;34788311;35051231;35580925;37938771", "class_list": "", "function": "MAGEH1 expression was downregulated in HCC tumor tissues compared with adjacent normal liver tissues and in samples from patients with tumor recurrence. MAGEH1 reduced HCC cell proliferation, migration and invasion ability., [RefSeq, PubMed]; MAGEH1 interacts with GADD45G and induces renal tubular cell apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Our data showed that Apr-1 plays a crucial role in cell proliferation by controlling cell cycle progression, implying a tumor-suppressor function of Apr-1 in cholangiocarcinoma carcinogenesis, [RefSeq, PubMed]; This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be involved in the atRA (all-trans retinoic acid) signaling through the STAT1-alpha (signal transducer and activator of transcription 1-alpha) pathway. [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": 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": "B2R8V9;Q5JRJ3;Q9Y5M2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9H213-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P33261-1", "uniprot_id": "CP2CJ_HUMAN", "mass": 55945.0, "length": 490, "protein_name": "Cytochrome P450 2C19", "gene_name": "CYP2C19", "organism": "Human", "refseq_name": "cytochrome P450 2C19", "refseq_ac": "NP_000760", "gene_names_uniprotkb": "CYP2C19", "gene_names_refseq": "CPCJ; CYP2C19; CYP2C; CYPIIC17; CYPIIC19; P450C2C; P450IIC19", "protein_names_uniprotkb": "Cytochrome P450 2C19; (R)-limonene 6-monooxygenase; (S)-limonene 6-monooxygenase; (S)-limonene 7-monooxygenase; 1.14.14.1; 1.14.14.51; 1.14.14.52; 1.14.14.53; 1.14.14.75; CYPIIC17; CYPIIC19; Cytochrome P450-11A; Cytochrome P450-254C; Fenbendazole monooxygenase (4'-hydroxylating); Mephenytoin 4-hydroxylase", "protein_names_refseq": "(R)-limonene 6-monooxygenase; (S)-limonene 6-monooxygenase; (S)-limonene 7-monooxygenase; S-mephenytoin 4-hydroxylase; cytochrome P-450 II C; cytochrome P450 2C19; cytochrome P450, family 2, subfamily C, polypeptide 19; cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19; cytochrome P450-11A; cytochrome P450-254C; fenbendazole monooxygenase (4'-hydroxylating); flavoprotein-linked monooxygenase; mephenytoin 4'-hydroxylase; microsomal monooxygenase; xenobiotic monooxygenase", "tax_id": 9606, "disease": "invasive aspergillosis (Disease Ontology:DOID:0050073); Keshan disease (Disease Ontology:DOID:0050083); ductal carcinoma in situ (Disease Ontology:DOID:0060074); atrial fibrillation (Disease Ontology:DOID:0060224); cerebral cavernous malformation (Disease Ontology:DOID:0060669); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); pre-eclampsia (Disease Ontology:DOID:10591); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); sickle cell anemia (Disease Ontology:DOID:10923); corneal neovascularization (Disease Ontology:DOID:11382); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); dilated cardiomyopathy (Disease Ontology:DOID:12930); retinopathy of prematurity (Disease Ontology:DOID:13025); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); background diabetic retinopathy (Disease Ontology:DOID:13208); Kawasaki disease (Disease Ontology:DOID:13378); eosinophilic esophagitis (Disease Ontology:DOID:13922); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); melanoma (Disease Ontology:DOID:1909); leiomyosarcoma (Disease Ontology:DOID:1967); nephroblastoma (Disease Ontology:DOID:2154); Leydig cell tumor (Disease Ontology:DOID:2696); allergic contact dermatitis (Disease Ontology:DOID:3042); carcinoma (Disease Ontology:DOID:305); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); thyroid gland carcinoma (Disease Ontology:DOID:3963); tuberculosis (Disease Ontology:DOID:399); macular retinal edema (Disease Ontology:DOID:4449); renal cell carcinoma (Disease Ontology:DOID:4450); multiple chemical sensitivity (Disease Ontology:DOID:4661); liver cirrhosis (Disease Ontology:DOID:5082); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); myocardial infarction (Disease Ontology:DOID:5844); nephrolithiasis (Disease Ontology:DOID:585); hepatocellular carcinoma (Disease Ontology:DOID:684); peptic ulcer disease (Disease Ontology:DOID:750); osteoarthritis (Disease Ontology:DOID:8398); prostate carcinoma in situ (Disease Ontology:DOID:8634); vascular dementia (Disease Ontology:DOID:8725); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); heroin dependence (Disease Ontology:DOID:9976); obsolete drug metabolism, poor, Cyp2C19-related (MONDO:MONDO:0012294)", "pathway": " (hsa:1557); (R-HSA-211981); (R-HSA-211999); (R-HSA-2142670); (R-HSA-2142816); (R-HSA-9749641)", "pathway_count": 6, "publication_count": 93, "publication_id_list": "10.1101/2023.09.13.557529;10022751;10220572;10383923;10411572;10434065;10731522;10741631;11237011;11581266;11701230;11950794;12432928;12464245;12464799;12468260;12616642;12629583;13741103;14660610;15096040;15196988;15258110;15365656;15454734;15469410;15499191;15611369;15665333;16141610;16258079;16359177;1664256;16837570;16858120;16943252;17482904;1783992;18491316;18577768;19413330;19836360;19965576;2009263;20166139;2025243;20972997;22674043;23118231;23959307;25840124;28378927;28677105;31154438;3342084;3705620;38747453;38874073;39025838;39300676;497175;5013373;5773090;5862532;6220203;6777177;6838677;7206363;7217086;7625847;7802672;7903454;7969038;8195181;8215410;8627510;8631948;8637342;8647857;8975785;9028626;9103523;9103550;9144407;931988;9435160;9618440;9644715;9732415;975718;9842986;9866708;9884161", "class_list": "", "function": "A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) (PubMed:18577768, PubMed:19965576, PubMed:20972997). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:18577768, PubMed:19965576, PubMed:20972997). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates PUFA specifically at the omega-1 position (PubMed:18577768). Catalyzes the epoxidation of double bonds of PUFA (PubMed:19965576, PubMed:20972997). Also metabolizes plant monoterpenes such as limonene. Oxygenates (R)- and (S)-limonene to produce carveol and perillyl alcohol (PubMed:11950794). Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine. Hydroxylates fenbendazole at the 4' position (PubMed:23959307)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CYP2C19 Genotype Is Associated With Adverse Cardiovascular Outcomes in Black Patients Treated With Clopidogrel Undergoing Percutaneous Coronary Intervention., [RefSeq, PubMed]; High Frequency of CYP2C19*3 Heterozygotes Among Patients Under Clopidogrel Treatment in Ouagadougou, Burkina Faso., [RefSeq, PubMed]; Interaction of age and CYP2C19 genotypes on voriconazole steady-state trough concentration in Chinese patients., [RefSeq, PubMed]; Metabolic activity of CYP2C19 and CYP2D6 on antidepressant response from 13 clinical studies using genotype imputation: a meta-analysis. Erratum:[Transl Psychiatry. 2024 Aug 31;14(1):350. doi: 10.1038/s41398-024-03064-x. PMID: 39217139] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 9552, "biomarker_type": "", "glycan_count": 1, "disease_count": 48, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "P33259;Q8WZB1;Q8WZB2;Q9UCD4", "ec_number_list": "1.14.14.1;4.2.1.152;1.14.13.n7;1.14.14.55;1.14.14.56;1.14.14.73;1.14.14.-;1.14.14.51;1.14.14.52;1.14.14.53;1.14.13.-;1.14.14.75;5.4.4.7;1.14.14.74;1.14.14.78;1.14.14.79;1.14.14.94;1.14.14.80;1.14.14.130;5.3.99.5", "go_molecular_function": "GO:0018675 (S)-limonene 6-monooxygenase activity;GO:0018676 (S)-limonene 7-monooxygenase activity;GO:0052741 (R)-limonene 6-monooxygenase activity;GO:0005506 iron ion binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0016098 monoterpenoid metabolic process;GO:0097267 omega-hydroxylase P450 pathway;GO:0001676 long-chain fatty acid metabolic process;GO:0006805 xenobiotic metabolic process;GO:0042178 xenobiotic catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P33261-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P57058-1", "uniprot_id": "HUNK_HUMAN", "mass": 79686.0, "length": 714, "protein_name": "Hormonally up-regulated neu tumor-associated kinase", "gene_name": "HUNK", "organism": "Human", "refseq_name": "hormonally up-regulated neu tumor-associated kinase", "refseq_ac": "NP_055401", "gene_names_uniprotkb": "HUNK; MAKV", "gene_names_refseq": "HUNK", "protein_names_uniprotkb": "Hormonally up-regulated neu tumor-associated kinase; 2.7.11.1; B19; Serine/threonine-protein kinase MAK-V", "protein_names_refseq": "B19; hormonally up-regulated neu tumor-associated kinase; hormonally upregulated Neu-associated kinase; hormonally upregulated neu tumor-associated kinase; serine/threonine protein kinase MAK-V", "tax_id": 9606, "disease": "", "pathway": " (hsa:30811)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;15575376;17344846;19717424;24366607;26992070;27920218;28834231;29242379;29393594;31530632;31597954;31752345;32157095;32387766;33537174;33968037;34171305;37193711;38071109;38838015", "class_list": "", "function": "A gene expression signature that distinguishes Hunk-wild type from Hunk-deficient tumors predicts clinical outcome in women with breast cancer, [RefSeq, PubMed]; HUNK inhibits cargo uptake and lysosomal traffic in the caveolar pathway via the AGAP3/ARF6., [RefSeq, PubMed]; HUNK inhibits epithelial-mesenchymal transition of CRC via direct phosphorylation of GEF-H1 and activating RhoA/LIMK-1/CFL-1. Publication Status: Online-Only, [RefSeq, PubMed]; HUNK phosphorylates EGFR to regulate breast cancer metastasis. Erratum:[Oncogene. 2021 May;40(20):3635-3636. doi: 10.1038/s41388-021-01797-3. PMID: 33958726], [RefSeq, PubMed]; Overproduction of MAK-V/Hunk in human breast cancer may be used fore more precise molecular typing., [RefSeq, PubMed]; Rubicon as a novel substrate of HUNK. 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": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P57058-1", "record_type": "protein" }, { "uniprot_canonical_ac": "E9PJI5-1", "uniprot_id": "NPIA7_HUMAN", "mass": 42230.0, "length": 369, "protein_name": "Nuclear pore complex-interacting protein family member A7", "gene_name": "NPIPA7", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "NPIPA7", "gene_names_refseq": "", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member A7", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:101059938); (hsa:101059953)", "pathway_count": 2, "publication_count": 2, "publication_id_list": "11237011;33592498", "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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "E9PJI5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BUE0-1", "uniprot_id": "MED18_HUMAN", "mass": 23663.0, "length": 208, "protein_name": "Mediator of RNA polymerase II transcription subunit 18", "gene_name": "MED18", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 18", "refseq_ac": "NP_001120822", "gene_names_uniprotkb": "MED18", "gene_names_refseq": "MED18; SRB5; p28b", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 18; Mediator complex subunit 18; p28b", "protein_names_refseq": "TRAP/mediator complex subunit p28b; mediator of RNA polymerase II transcription subunit 18; mediator of RNA polymerase II transcription, subunit 18 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:54797); (R-HSA-1989781); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10075656;10425206;10777541;11095972;11267664;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12584197;12829629;14976261;15067378;15130092;15175163;15273253;15635043;15850785;15919796;15989967;16380219;16972786;17011499;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20068231;20101261;20110263;20410276;22090124;23186163;23239344;23481700;24196956;25576301;25645385;25854864;26992070;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632046;29786170;30379171;30429286;30484775;30833945;31154438;31530632;31534128;31844290;31848261;32157095;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34932366;35051231;35580925;36010968;36102648;36241641;37938771;7685352;7892212;8325954;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;9748239;9836620", "class_list": "", "function": "Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors., [UniProtKB]; Long non-coding RNA SNHG3 promotes progression of gastric cancer by regulating neighboring MED18 gene methylation. Erratum:[Cell Death Dis. 2022 Mar 11;13(3):226. doi: 10.1038/s41419-022-04698-9. PMID: 35277490] Publication Status: Online-Only, [RefSeq, PubMed]; MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DPM1;Q9NXU9", "ec_number_list": "", "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016592 mediator complex;GO:0070847 core mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q9BUE0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94763-1", "uniprot_id": "RMP_HUMAN", "mass": 59832.0, "length": 535, "protein_name": "Unconventional prefoldin RPB5 interactor 1", "gene_name": "URI1", "organism": "Human", "refseq_name": "unconventional prefoldin RPB5 interactor 1 isoform c", "refseq_ac": "NP_001239570", "gene_names_uniprotkb": "URI1; C19orf2; NNX3; PPP1R19; RMP; URI", "gene_names_refseq": "C19orf2; NNX3; PPP1R19; RMP; URI1; URI", "protein_names_uniprotkb": "Unconventional prefoldin RPB5 interactor 1; Protein NNX3; Protein phosphatase 1 regulatory subunit 19; RNA polymerase II subunit 5-mediating protein; RPB5-mediating protein", "protein_names_refseq": "RNA polymerase II subunit 5-mediating protein; RPB5-mediating protein; protein phosphatase 1, regulatory subunit 19; unconventional prefoldin RPB5 interactor 1 isoform c; unconventional prefoldin RPB5 interactor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8725)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;12737519;14615539;15367675;17081983;17936702;18669648;19651622;20068231;21397856;21730289;23186163;23301498;23667685;25576301;26992070;27505673;28218747;28561026;29242379;29437277;29557506;30379171;31738558;31844290;31848261;32157095;32488085;32938616;33717175;33968037;33981976;34171305;34421352;34561969;35289036;35580925;36215666;36241641;9819440;9878255", "class_list": "", "function": "Data show that URI is an 'addicting' oncogene selectively required for the survival of ovarian cancer cells with increased URI copy number., [RefSeq, PubMed]; Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein., [UniProtKB]; Plays a central role in maintaining S6K1 signaling and BAD phosphorylation under normal growth conditions thereby protecting cells from potential deleterious effects of sustained S6K1 signaling. The URI1-PPP1CC complex acts as a central component of a negative feedback mechanism that counteracts excessive S6K1 survival signaling to BAD in response to growth factors. Mediates inhibition of PPP1CC phosphatase activity in mitochondria. Coordinates the regulation of nutrient-sensitive gene expression availability in a mTOR-dependent manner. Seems to be a scaffolding protein able to assemble a prefoldin-like complex that contains PFDs and proteins with roles in transcription and ubiquitination., [UniProtKB]; This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. 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 22. [provided by RefSeq, Nov 2011]., [RefSeq]; URI1 suppresses irradiation-induced reactive oxygen species (ROS) by activating autophagy in hepatocellular carcinoma cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 1, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K805;H7BY42;Q8TC23;Q9UNU3", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003714 transcription corepressor activity;GO:0051219 phosphoprotein binding;GO:0019212 phosphatase inhibitor activity;GO:0000993 RNA polymerase II complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "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:0009615 response to virus;GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "O94763-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60842-1", "uniprot_id": "IF4A1_HUMAN", "mass": 46154.0, "length": 406, "protein_name": "Eukaryotic initiation factor 4A-I", "gene_name": "EIF4A1", "organism": "Human", "refseq_name": "eukaryotic initiation factor 4A-I isoform 2", "refseq_ac": "NP_001191439", "gene_names_uniprotkb": "EIF4A1; DDX2A; EIF4A", "gene_names_refseq": "DDX2A; EIF-4A; EIF4A1; EIF4A; eIF-4A-I; eIF4A-I", "protein_names_uniprotkb": "Eukaryotic initiation factor 4A-I; 3.6.4.13; ATP-dependent RNA helicase eIF4A-1; eIF-4A-I; eIF4A-I", "protein_names_refseq": "ATP-dependent RNA helicase eIF4A-1; eukaryotic initiation factor 4A-I isoform 2; eukaryotic initiation factor 4A-I; eukaryotic initiation factor 4AI; eukaryotic translation initiation factor 4A", "tax_id": 9606, "disease": "oligohydramnios (Disease Ontology:DOID:12215); leiomyoma (Disease Ontology:DOID:127); renovascular hypertension (Disease Ontology:DOID:1591); breast cancer (Disease Ontology:DOID:1612); prostate adenocarcinoma (Disease Ontology:DOID:2526); Leydig cell tumor (Disease Ontology:DOID:2696); high grade glioma (Disease Ontology:DOID:3070); pancreatitis (Disease Ontology:DOID:4989); pulmonary hypertension (Disease Ontology:DOID:6432); chronic ulcer of skin (Disease Ontology:DOID:8549)", "pathway": " (hsa:1973); (R-HSA-1169408); (R-HSA-156827); (R-HSA-429947); (R-HSA-72649); (R-HSA-72662); (R-HSA-72702); (R-HSA-72706); (R-HSA-9820841); (R-HSA-9820865); (R-HSA-9918487)", "pathway_count": 11, "publication_count": 224, "publication_id_list": "10364207;10637334;10659855;10882133;1095581;11018020;11073994;11095724;11112487;11157743;11237011;11283721;11408474;11788588;11889047;12525615;12582176;12588972;1355481;14567916;14583602;14654843;14749774;15131269;15282546;15475613;15485925;15702989;15715967;16009940;16112642;16122702;16139798;16141059;16284618;16352599;16407192;16408927;16428300;16699525;16715065;16775314;16815975;16872604;16914094;17052452;17245413;17284590;17289916;17376915;17595167;17697703;18287095;18292551;18305167;18452278;1856230;18583345;18596238;18625844;18669648;18991276;19073728;19125153;19153607;19204291;19239894;19270716;19558367;19608861;20068231;20133758;20133869;20156963;20219937;20308324;20385878;20941364;21406692;21872626;22967762;23186163;23301498;23444369;24366607;24397554;24714562;25418920;25469497;25480299;25502872;25576301;25645385;25810538;25880248;26154972;26374642;26735137;26811146;26992070;27452731;27600516;27846572;27920218;28063628;28218747;28228285;28411811;28446606;28510447;28514659;28832583;28834231;28904123;29117567;291969;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30397120;30410026;30429286;30484775;30524438;30779550;30833945;30940748;31092671;31217245;31222486;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32502391;32890404;32897882;32938616;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34561969;34647228;34696522;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;35585045;36010968;36241641;36284347;36727461;36768380;37217939;37316325;37938771;38177122;38665916;38738857;39215053;39349455;40596516;40914422;429297;592398;592399;641056;6853548;7000367;7559393;7935836;8449919;8493113;8943342;9045610;9099687;9525617;9548260;9732867;9857202", "class_list": "", "function": "ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome (PubMed:20156963). In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon. As a result, promotes cell proliferation and growth (PubMed:20156963)., [UniProtKB, PubMed, PubMed, PubMed]; EIF4A1 Is a Prognostic Marker and Actionable Target in Human Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; EIF4A1-dependent mRNAs employ purine-rich 5'UTR sequences to activate localised eIF4A1-unwinding through eIF4A1-multimerisation to facilitate translation., [RefSeq, PubMed]; Genetic evidence supporting potential causal roles of EIF4 family in breast cancer: a two-sample randomized Mendelian study. Publication Status: Online-Only, [RefSeq, PubMed]; MTORC1/S6K1 signaling promotes sustained oncogenic translation through modulating CRL3[IBTK]-mediated ubiquitination of eIF4A1 in cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; RNA helicase., [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": 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": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R6L8;D3DTP9;J3QLC4;P04765;Q5U018;Q61516", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;3.4.19.12;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;3.1.13.4;2.3.2.27;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;3.6.5.3;3.1.-.-;3.6.5.-;7.6.2.1;7.2.2.-;5.6.2.-;2.7.7.52;2.7.7.19;2.3.2.-;3.1.13.-;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:0003729 mRNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0097165 nuclear stress granule;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002183 cytoplasmic translational initiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006413 translational initiation", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "P60842-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBC1-1", "uniprot_id": "IKBL1_HUMAN", "mass": 43257.0, "length": 381, "protein_name": "NF-kappa-B inhibitor-like protein 1", "gene_name": "NFKBIL1", "organism": "Human", "refseq_name": "NF-kappa-B inhibitor-like protein 1 isoform 2", "refseq_ac": "NP_001138433", "gene_names_uniprotkb": "NFKBIL1; IKBL", "gene_names_refseq": "IKBL; NFKBIL1; NFKBIL", "protein_names_uniprotkb": "NF-kappa-B inhibitor-like protein 1; I-kappa-B-like protein; IkappaBL; Inhibitor of kappa B-like protein; Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1", "protein_names_refseq": "I-kappa-B-like protein; NF-kappa-B inhibitor-like protein 1 isoform 2; NF-kappa-B inhibitor-like protein 1; ikappaBL; inhibitor of kappa B-like protein; nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1", "tax_id": 9606, "disease": "rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:4795)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10202016;10369924;11113070;11237011;12509789;18691976;20829348;25809685;27920218;28063628;28832583;28834231;29242379;29508533;29632046;31162003;36284347;37217939;8081366;9480751", "class_list": "", "function": "Genetic association studies in a population of black women in South Africa: Data suggest that an SNP in NFKBIL1 (rs2071592) is associated with iron status/iron-deficiency anemia in the population studied., [RefSeq, PubMed]; Involved in the regulation of innate immune response. Acts as negative regulator of Toll-like receptor and interferon-regulatory factor (IRF) signaling pathways. Contributes to the negative regulation of transcriptional activation of NF-kappa-B target genes in response to endogenous proinflammatory stimuli., [UniProtKB, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Study found significant associations for two single nucleotide polymorphisms in NFKBIL1: rs2239707 showed a significant distribution of genotype frequencies in the case-control analysis both for all individuals combined and in boys only, and rs2230365 was significantly associated with the ALTs-module language impairment in boys only., [RefSeq, PubMed]; This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NL91;B4DUW1;Q14625;Q5HYU4;Q5RJ72;Q5ST96;Q5STV4;Q5STV5;Q9UBX4", "ec_number_list": "", "go_molecular_function": "GO:0140416 transcription regulator inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0032720 negative regulation of tumor necrosis factor production;GO:0071222 cellular response to lipopolysaccharide;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0034122 negative regulation of toll-like receptor signaling pathway;GO:0031665 negative regulation of lipopolysaccharide-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9UBC1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1E959-1", "uniprot_id": "ODAM_HUMAN", "mass": 30777.0, "length": 279, "protein_name": "Odontogenic ameloblast-associated protein", "gene_name": "ODAM", "organism": "Human", "refseq_name": "odontogenic ameloblast-associated protein isoform 1 precursor", "refseq_ac": "NP_060325", "gene_names_uniprotkb": "ODAM; APIN", "gene_names_refseq": "APIN; ODAM", "protein_names_uniprotkb": "Odontogenic ameloblast-associated protein; Apin", "protein_names_refseq": "odontogenic ameloblast-associated protein isoform 1 precursor; odontogenic ameloblast-associated protein; odontogenic, ameloblast asssociated", "tax_id": 9606, "disease": "", "pathway": " (hsa:54959); (R-HSA-977225)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10097139;10319874;10391242;10411933;10583407;10956649;11237011;11278841;11401442;11467836;11590439;118839;12454989;1270801;14506261;14567678;14647039;15064394;15962837;16174740;16799559;16959974;17425515;17647262;18065497;18070888;1837051;18449172;18472969;18484335;1849145;19011241;19658395;19828817;20676056;20807650;2118650;2195544;22065755;22131221;23813966;2409350;24833601;24893886;25523424;25911094;26018760;26417681;26668317;26686862;26807092;279930;28411811;2900981;29745811;3035556;3053705;3080684;3094007;3142462;31838295;33537174;34171305;34634673;35580925;3675579;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9862427", "class_list": "", "function": "AMELX and ODAM variations was not different between two populations of schoolchildren with respect to dental fluorosis (DF) severity; however, the presence of rs1784418 differed between phenotypes with regard to susceptibility to DF. Therefore, MMP20 might be related to the various phenotypes of DF, [RefSeq, PubMed]; Calcifying epithelial odontogenic tumor-associated amyloid consists of a unique and previously undescribed protein that we provisionally designate APin., [RefSeq, PubMed]; CircRNA CircZMYM4 inhibits the growth and metastasis of lung adenocarcinoma via the miR-587/ODAM pathway., [RefSeq, PubMed]; Data suggest that ODAM is a developmental antigen that has an essential role in tooth maturation and in the pathogenesis of certain odontogenic and other epithelial neoplasms, [RefSeq, PubMed]; Similar to AMTN, ODAM is able to promote HA nucleation in a dose-dependent manner in SBF, and even outside of its biological context in vitro., [RefSeq, PubMed]; The protein sequences deduced from the cloned cDNA for rat, mouse, pig, and human were aligned together with those obtained from four other mammal genomes. Apin is highly conserved in mammals., [RefSeq, PubMed]; Tooth-associated epithelia protein that probably plays a role in odontogenesis, the complex process that results in the initiation and generation of the tooth. May be incorporated in the enamel matrix at the end of mineralization process. Involved in the induction of RHOA activity via interaction with ARHGEF and expression of downstream factors such as ROCK. Plays a role in attachment of the junctional epithelium to the tooth surface., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 12, "predicted_n_glycosites": 0, "predicted_o_glycosites": 12, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q8WWE5;Q9NWZ9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0099512 supramolecular fiber;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0006954 inflammatory response;GO:0010628 positive regulation of gene expression;GO:0032956 regulation of actin cytoskeleton organization;GO:0043547 positive regulation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "A1E959-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15504-1", "uniprot_id": "NUP42_HUMAN", "mass": 44872.0, "length": 423, "protein_name": "Nucleoporin NUP42", "gene_name": "NUP42", "organism": "Human", "refseq_name": "nucleoporin NUP42 isoform 2", "refseq_ac": "NP_031368", "gene_names_uniprotkb": "NUP42; CG1; NUPL2", "gene_names_refseq": "CG1; NLP-1; NLP1; NLP_1; NUP42; NUPL2; UIP1; hCG1", "protein_names_uniprotkb": "Nucleoporin NUP42; NLP-1; NUP42 homolog; Nucleoporin hCG1; Nucleoporin-42; Nucleoporin-like protein 2", "protein_names_refseq": "H_RG271G13.9; NUP42 homolog; nucleoporin NUP42 isoform 2; nucleoporin NUP42; nucleoporin hCG1; nucleoporin like 2; nucleoporin-like protein 1; nucleoporin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:11097); (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-9705671)", "pathway_count": 31, "publication_count": 417, "publication_id_list": "10.1101/2023.09.13.557529;10205180;10228171;10323864;10358091;10444065;10489353;10526235;10531003;10556282;10574707;10601273;10601333;10610322;10668806;10725331;10759568;10827188;10846107;10851237;10862613;10920397;10954706;11014198;11073998;11095724;11112487;11118210;11124902;11157743;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;15731250;15802566;15823533;15829507;15831457;1586970;15931174;15940266;15959518;15989970;16000379;16009940;16030353;16112642;16122702;16139798;16140760;16194093;16278218;16314397;16352599;16361254;16407192;16428300;16478998;16608850;16608852;16626738;16688858;16699525;16710424;16715065;16775314;16810316;16815975;16872604;16914094;16933365;17000901;17018294;17081640;17132145;17183683;17204286;17224653;17289916;17317185;17376915;17412958;1754405;17690096;17693435;17698605;17705785;18203656;18226598;18235501;18235502;18287095;18305167;18364396;18381449;18394993;18408014;18411249;18423201;18535146;18550409;18583345;18625722;18628979;18669648;18691969;18708356;18809514;18946085;18984158;19073728;19125153;19229036;19270716;19287951;1944575;19494120;19596686;19622798;19640981;19682613;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;21098080;21147198;21167178;21284855;21311021;21335236;21450806;21550342;21554500;21559454;21593607;21647297;21690215;22121020;22174689;22250199;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;24369422;2470644;24714562;24715725;24782567;24870230;25114211;25218447;25391492;25576301;25640237;25704882;25723178;25849199;26572645;26992070;27068747;27501258;27846572;28415052;28904123;29237092;29351928;29437277;29557506;30355688;30360396;30410026;30429286;30761409;31217245;31492838;31844290;31848261;31850239;32157095;32353859;32357974;32428392;32488085;32589897;32726803;32728199;32938616;32953130;32979938;33024073;33060197;33097660;33110251;33214551;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33537174;33567255;33592498;33633747;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33963333;33968037;33989516;33990585;34019948;34021074;34054808;34084167;34110168;34166398;34171305;34185709;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34725712;35051231;35102342;35132862;35513511;35580925;35643212;36010968;37051252;37938771;38665916;39531497;39534244;40307207;40596516;6261960;6930639;7559393;7585962;7759547;7769657;7828588;7878053;7958838;8113738;8196654;8313914;8721986;8805303;8946918;9092824;9305631;9405152;9412458;9436978;9450185;9452416;9512417;9525617;9582382;9618489;9651582;9660920;9660949;9755184;9756909;9837918;9845364;9873016;9885291;9920933", "class_list": "", "function": "(Microbial infection) In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope., [UniProtKB, PubMed]; NLP1 functions as an accessory factor in CRM1-dependent nuclear protein export, [RefSeq, PubMed]; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "A4D143;B4DP42;Q49AE7;Q9BS49", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0005049 nuclear export signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0006611 protein export from nucleus;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 42.5, "record_id": "O15504-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y473-1", "uniprot_id": "ZN175_HUMAN", "mass": 81609.0, "length": 711, "protein_name": "Zinc finger protein 175", "gene_name": "ZNF175", "organism": "Human", "refseq_name": "zinc finger protein 175", "refseq_ac": "NP_009078", "gene_names_uniprotkb": "ZNF175", "gene_names_refseq": "OTK18; ZNF175", "protein_names_uniprotkb": "Zinc finger protein 175; Zinc finger protein OTK18", "protein_names_refseq": "zinc finger protein 175; zinc finger protein OTK18", "tax_id": 9606, "disease": "", "pathway": " (hsa:7728); (R-HSA-212436)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;14688346;15081264;15175151;15896744;16606702;16719718;19034670;19247725;2163759;23481700;25645385;25880248;25892735;26375851;28832583;29242379;29493099;29769354;29786170;29961568;30379171;31217245;31844290;32157095;32357974;33717175;33912179;34185709;35051231;8183939;8769649;8838321;9637681;9653119", "class_list": "", "function": "Down-regulates the expression of several chemokine receptors. Interferes with HIV-1 replication by suppressing Tat-induced viral LTR promoter activity., [UniProtKB, PubMed]; HIV-1 induces OTK18 expression through a YIN-YANG-1 mediated manner in human macrophages, [RefSeq, PubMed]; OTK18 may play a role in neurotrophin production and consequently support neuronal survival., [RefSeq, PubMed]; OTK18/zinc finger protein 175 expression in brain mononuclear phagocytes is a signature for advanced HIV-1 encephalitis., [RefSeq, PubMed]; Transcriptional suppressor OTK18 plays a role in macrophage control of viral replication during advanced HIV-1 infection., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9H2", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005730 nucleolus;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051607 defense response to virus;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9Y473-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07949-1", "uniprot_id": "RET_HUMAN", "mass": 124319.0, "length": 1114, "protein_name": "Proto-oncogene tyrosine-protein kinase receptor Ret", "gene_name": "RET", "organism": "Human", "refseq_name": "proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor", "refseq_ac": "NP_065681", "gene_names_uniprotkb": "RET; CDHF12; CDHR16; PTC", "gene_names_refseq": "CDHF12; CDHR16; HSCR1; MEN2A; MEN2B; MTC1; PTC; RET-ELE1; RET", "protein_names_uniprotkb": "Proto-oncogene tyrosine-protein kinase receptor Ret; 2.7.10.1; Cadherin family member 12; Proto-oncogene c-Ret", "protein_names_refseq": "RET receptor tyrosine kinase; cadherin family member 12; cadherin-related family member 16; proto-oncogene c-Ret; proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor; proto-oncogene tyrosine-protein kinase receptor Ret; rearranged during transfection; ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)", "tax_id": 9606, "disease": "multiple endocrine neoplasia type 2A (Disease Ontology:DOID:0050430); familial medullary thyroid carcinoma (Disease Ontology:DOID:0050547); pheochromocytoma (Disease Ontology:DOID:0050771); renal hypoplasia (Disease Ontology:DOID:0080204); Parkinsonism (Disease Ontology:DOID:0080855); multiple endocrine neoplasia type 2B (Disease Ontology:DOID:10016); Hirschsprung's disease (Disease Ontology:DOID:10487); clubfoot (Disease Ontology:DOID:11836); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); brain ischemia (Disease Ontology:DOID:2316); colorectal cancer (Disease Ontology:DOID:9256); Hirschsprung disease, susceptibility to, 1 (MONDO:MONDO:0007723)", "pathway": " (hsa:5979); (R-HSA-5673001); (R-HSA-8853659); (R-HSA-9768919); (R-HSA-9830364); (R-HSA-9830674)", "pathway_count": 6, "publication_count": 373, "publication_id_list": "10.1101/2023.09.13.557529;10022819;10076558;10090908;10323403;10439047;10445857;10448070;10484767;10508167;10522989;10612852;10618407;10664228;10790203;10826520;10869344;10876191;10980597;10982477;10995764;11000521;11002419;11027663;11061555;11090077;11136978;11237011;11237712;11245446;11295841;11313946;11313948;11331212;11351254;11360177;11390647;11445581;11470823;11491658;11520496;11536047;11546808;11564857;11589684;11692159;11702783;11732489;11886862;11932300;12000816;12019403;12032311;12086152;12091387;12094235;12121613;12242309;12410354;12474140;12694233;12734540;12746565;12755958;12771945;12787916;14506247;14566559;14701734;14707138;14711813;14766744;14981541;15044950;15240649;15286081;15320968;15345114;15356145;1545823;15517484;15523405;15531548;15546878;15569713;15677445;15699703;15844786;15855933;15953945;16053382;16118333;16343103;16357163;16419493;16569669;16627759;16646689;16684964;16712668;16736292;16778204;16782438;16813162;16839264;16847065;16865647;16928683;16959974;1716764;17316110;17344846;17384213;17471236;17599050;17610518;17664273;17848262;17884497;17891235;17939859;17998941;18248647;18252215;18322301;18331611;18631007;18631354;18753381;18775330;18805915;1898771;19029224;19053769;19057948;19138047;19279408;19366855;19369195;19411807;19413330;19443294;19445625;19475497;19561646;19823924;19826964;19853745;19900702;19920141;19958926;20013610;20039896;20064382;20068231;20117004;20119574;20409618;20463576;20473317;20478380;20494215;20521125;20554711;20605972;20616503;20629553;20682772;20702524;20801952;20977903;21102635;21134556;21134561;21186952;21254918;21357690;21368041;21372320;21422799;21454698;21626080;21690267;21711375;21779497;21779505;21875731;21993244;21994944;22111543;22128160;22174939;22189301;22274720;22341042;22345297;22404432;22569528;22584703;22589270;22676047;22750304;22751117;23056499;23103841;23180660;23303910;23333276;23341727;23429478;23443682;23536393;23575685;23705946;23780998;2406025;24291638;24349301;24465693;24560924;24699996;24805091;24897931;24937142;25047660;25219551;25242331;25330015;25409876;25425582;25440022;25501606;25515555;25645385;25675305;25720956;25736215;25769001;25781681;25887804;25950813;26060748;26085527;26237509;2660074;26732158;26758973;26829565;26992070;27226544;2734021;27379493;27472814;27525386;27543214;27673361;27807060;27994876;28166591;28323957;28460442;28778966;28846097;28846099;28911154;28953886;29142006;29144449;29262623;29434222;29665843;29769354;29786170;29908090;3037315;30701022;3078962;31118272;31135801;31534554;31535977;32062451;32203567;32298114;32345963;32387766;32897882;32938616;33123756;33141586;33392160;33672854;34509645;35051231;35689816;37938771;38847983;39337252;6148751;7581377;7633441;7665556;7704557;7784092;7809086;7845675;7849720;7860065;7874109;7881414;7906417;7906866;7911697;7915165;7935463;7972015;7997019;8052307;8099202;8103403;8114938;8114939;8394845;8493579;8557249;8595427;8621380;8625130;8626834;8628282;8631863;8637703;8662982;8663426;8665852;8674117;8710374;8807338;8939933;9003111;9043870;9047383;9047384;9067749;9090527;9094028;9097963;9174404;9192684;9223675;9259198;9294615;9299438;9359036;9360560;9384613;9398735;9407096;9452064;9452077;9491986;9497256;9506724;9575150;9604935;9621513;9677065;9760196;9764818;9820617;9839497;9883723;9927426", "class_list": "", "function": "Defining the Genomic Landscape of Diffuse Sclerosing Papillary Thyroid Carcinoma: Prognostic Implications of RET Fusions., [RefSeq, PubMed]; Isoform 1 in complex with GFRAL induces higher activation of MAPK-signaling pathway than isoform 2 in complex with GFRAL., [UniProtKB, PubMed]; Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-derived growth family factors (GDNF, NRTN, ARTN, PSPN and GDF15) (PubMed:20064382, PubMed:20616503, PubMed:20702524, PubMed:21357690, PubMed:21454698, PubMed:24560924, PubMed:28846097, PubMed:28846099, PubMed:28953886, PubMed:31118272). In contrast to most receptor tyrosine kinases, RET requires not only its cognate ligands but also coreceptors, for activation (PubMed:21994944, PubMed:23333276, PubMed:28846097, PubMed:28846099, PubMed:28953886). GDNF ligands (GDNF, NRTN, ARTN, PSPN and GDF15) first bind their corresponding GDNFR coreceptors (GFRA1, GFRA2, GFRA3, GFRA4 and GFRAL, respectively), triggering RET autophosphorylation and activation, leading to activation of downstream signaling pathways, including the MAPK- and AKT-signaling pathways (PubMed:21994944, PubMed:23333276, PubMed:24560924, PubMed:25242331, PubMed:28846097, PubMed:28846099, PubMed:28953886). Acts as a dependence receptor via the GDNF-GFRA1 signaling: in the presence of the ligand GDNF in somatotrophs within pituitary, promotes survival and down regulates growth hormone (GH) production, but triggers apoptosis in absence of GDNF (PubMed:20616503, PubMed:21994944). Required for the molecular mechanisms orchestration during intestine organogenesis via the ARTN-GFRA3 signaling: involved in the development of enteric nervous system and renal organogenesis during embryonic life, and promotes the formation of Peyer's patch-like structures, a major component of the gut-associated lymphoid tissue (By similarity). Mediates, through interaction with GDF15-receptor GFRAL, GDF15-induced cell-signaling in the brainstem which triggers an aversive response, characterized by nausea, vomiting, and/or loss of appetite in response to various stresses (PubMed:28846097, PubMed:28846099, PubMed:28953886). Modulates cell adhesion via its cleavage by caspase in sympathetic neurons and mediates cell migration in an integrin (e.g. ITGB1 and ITGB3)-dependent manner (PubMed:20702524, PubMed:21357690). Also active in the absence of ligand, triggering apoptosis through a mechanism that requires receptor intracellular caspase cleavage (PubMed:21357690). Triggers the differentiation of rapidly adapting (RA) mechanoreceptors (PubMed:20064382). Involved in the development of the neural crest (By similarity). Regulates nociceptor survival and size (By similarity). Phosphorylates PTK2/FAK1 (PubMed:21454698)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]., [RefSeq]; Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points Amid RET Pathogenic Variants in Medullary Thyroid Cancer/Multiple Endocrine Neoplasia Type 2 (MEN2). Review article 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": 3, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 2, "reported_n_glycosites": 10, "reported_o_glycosites": 1, "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": 12, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 2, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 32, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 222, "reported_interactions": 0, "missing_score": 9481, "biomarker_type": "", "glycan_count": 4, "disease_count": 13, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "A8K6Z2;Q15250;Q9BTB0;Q9H4A2", "ec_number_list": "2.7.1.153;2.7.1.137;2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;3.6.5.2;2.7.1.40;2.7.11.13;2.7.11.11;3.1.3.48;3.1.4.11;2.7.1.32;2.7.1.82;2.7.10.4;2.7.11.24;2.7.11.17;2.7.11.23", "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0005509 calcium ion binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0043235 receptor complex;GO:0010008 endosome membrane;GO:0098797 plasma membrane protein complex", "go_biological_process": "GO:0007497 posterior midgut development;GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway;GO:0007165 signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0010976 positive regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 39.1, "record_id": "P07949-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZMJ4-1", "uniprot_id": "IL34_HUMAN", "mass": 27482.0, "length": 242, "protein_name": "Interleukin-34", "gene_name": "IL34", "organism": "Human", "refseq_name": "interleukin-34 isoform 2 precursor", "refseq_ac": "NP_001166242", "gene_names_uniprotkb": "IL34; C16orf77", "gene_names_refseq": "C16orf77; IL-34; IL34", "protein_names_uniprotkb": "Interleukin-34; IL-34", "protein_names_refseq": "interleukin-34 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:146433); (R-HSA-449836); (R-HSA-9680350)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10395686;10438516;11237011;12469119;12558796;12882960;1334462;16488976;16492764;18467591;20489731;20504948;20829061;21049007;2147944;21716315;2196173;22039170;22153499;22264405;22299025;22483114;23291588;23744080;23783831;24890514;25662098;26029847;26095744;26235028;29557506;29741879;29786170;35580925;37074911;37938771;38103407;38166811;38218098;38367301;39321806;7597091;7615501;7681396;7737969;7805849;8355686;8981370;9225065;9422780", "class_list": "", "function": "Cut-off value for interleukin-34 as an additional potential inflammatory biomarker for estimation of slow coronary flow risk. Publication Status: Online-Only, [RefSeq, PubMed]; Cytokine that promotes the proliferation, survival and differentiation of monocytes and macrophages. Promotes the release of pro-inflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, and in the regulation of bone resorption. Signaling via CSF1R and its downstream effectors stimulates phosphorylation of MAPK1/ERK2 AND MAPK3/ERK1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Data suggest a discrete role of IL-34 in inflammatory rheumatoid arthritis (RA) diseases. Publication Status: Online-Only, [RefSeq, PubMed]; Discovered IL-34 and its receptor CSF1 by functional screening of the extracellular proteome., [RefSeq, PubMed]; Elevated serum IL-34 is correlated with disease severity in patients with biliary atresia following Kasai portoenterostomy., [RefSeq, PubMed]; Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM, May 2008]., [RefSeq]; Interleukin-34-orchestrated tumor-associated macrophage reprogramming is required for tumor immune escape driven by p53 inactivation., [RefSeq, PubMed]; Longitudinal associations between serum IL-34 with severity and prognosis in community-acquired pneumonia patients., [RefSeq, PubMed]; SAMHD1 dysfunction induces IL-34 expression via NF-kappaB p65 in neuronal SH-SY5Y cells., [RefSeq, PubMed]; Study identifies IL-34 expression in the synovial tissue of patients with arthritis; this cytokine, as a downstream effector of TNFalpha and IL-1beta, may contribute to inflammation and bone erosions in rheumatoid arthritis, [RefSeq, PubMed]; The different spatiotemporal expression of IL-34 and CSF-1 allows for complementary activation of the CSF-1R in developing and adult tissues., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RC28;B2Z4A8;B2ZC70;Q8N6L2", "ec_number_list": "", "go_molecular_function": "GO:0005157 macrophage colony-stimulating factor receptor binding;GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0038145 macrophage colony-stimulating factor signaling pathway;GO:0001934 positive regulation of protein phosphorylation;GO:0006954 inflammatory response;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q6ZMJ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UGU5-1", "uniprot_id": "HMGX4_HUMAN", "mass": 65712.0, "length": 601, "protein_name": "HMG domain-containing protein 4", "gene_name": "HMGXB4", "organism": "Human", "refseq_name": "HMG domain-containing protein 4 isoform 1", "refseq_ac": "NP_001003681", "gene_names_uniprotkb": "HMGXB4; HMG2L1; HMGBCG", "gene_names_refseq": "HMG2L1; HMGBCG; HMGXB4; P53N; THC211630", "protein_names_uniprotkb": "HMG domain-containing protein 4; HMG box-containing protein 4; High mobility group protein 2-like 1; Protein HMGBCG", "protein_names_refseq": "HMG box domain containing 4; HMG box-containing protein 4; HMG domain-containing protein 4 isoform 1; HMG domain-containing protein 4; high mobility group protein 2-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10042)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10329004;11237011;17671966;18452278;18477386;19413330;19651622;20068231;20800603;21406692;23186163;25576301;26547506;26992070;28904123;30315122;31530632;31844290;31998317;32157095;32387766;32488085;32938616;33141586;33298915;33592498;33595778;33691108;33968037;33981976;34019948;34171305;34405274;34509645;35051231;36010968;37217939", "class_list": "", "function": "Analysis of the P(53N) a Novel Protein Encoded on Chromosome 22q12.1-12.3 in Glioblastomas and Ependymomas Specimens., [RefSeq, PubMed]; High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010]., [RefSeq]; High-mobility group protein 2-like 1 and SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3 GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Negatively regulates Wnt/beta-catenin signaling during development., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These results highlight a previously un-reported role of HMGXB4 in the hematopoietic system and transcriptional imbalances of HMGXB4 could contribute to the aberrant expansion of the megakaryocytic lineage in primary myelofibrosis patients, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "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": "O75672;O75673;Q9UMT5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0016589 NURF complex", "go_biological_process": "GO:0008333 endosome to lysosome transport;GO:0016055 Wnt signaling pathway;GO:0030178 negative regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9UGU5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2W1-1", "uniprot_id": "HOP2_HUMAN", "mass": 24906.0, "length": 217, "protein_name": "Homologous-pairing protein 2 homolog", "gene_name": "PSMC3IP", "organism": "Human", "refseq_name": "homologous-pairing protein 2 homolog isoform 3", "refseq_ac": "NP_001242943", "gene_names_uniprotkb": "PSMC3IP; HOP2; TBPIP", "gene_names_refseq": "GT198; HOP2; HUMGT198A; ODG3; PSMC3IP; TBPIP", "protein_names_uniprotkb": "Homologous-pairing protein 2 homolog; Nuclear receptor coactivator GT198; PSMC3-interacting protein; Proteasome 26S ATPase subunit 3-interacting protein; TBP-1-interacting protein; Tat-binding protein 1-interacting protein", "protein_names_refseq": "DBD-interacting; TBP-1-interacting protein; homologous-pairing protein 2 homolog isoform 3; homologous-pairing protein 2 homolog; nuclear receptor coactivator GT198; proteasome 26S ATPase subunit 3-interacting protein; tat-binding protein 1-interacting protein", "tax_id": 9606, "disease": "ovarian dysgenesis 3 (Disease Ontology:DOID:0080495)", "pathway": " (hsa:29893); (R-HSA-912446)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10029069;10438626;10562567;10728666;10734115;10806355;10928988;11237011;11292842;11739747;15164066;15304223;16123081;16292313;16322221;16407260;17525332;17541404;17716379;17965729;17977839;17981954;18256600;18535008;20044539;20044541;20062530;20818382;21963259;24714562;25645385;25892735;26758079;26992070;28228285;28832583;28904123;29242379;29393594;29608566;29769354;30315122;31844290;31848261;32157095;32357974;32387766;32938616;33298915;33592498;33717175;33912179;33968037;34079088;34171305;34509645;34878148;35051231;36284347;36581221;37217939;7490091;8929543;9008167;9311981;9450758;9781043;9826763", "class_list": "", "function": "A PSMC3IP/HOP2 mutation may cause XX ovarian dysgenesis through abolishing coactivation of estrogen-driven transcription, [RefSeq, PubMed]; Data suggest that the human TBPIP/Hop2-Mnd1 complex may ensure proper pairing between homologous chromosomes through its stimulation of strand exchange during meiosis., [RefSeq, PubMed]; Identification of GT198 (TBPIP/Hop2) as a nuclear receptor coactivator. GT198 is phosphorylation regulated. GT198 interacts with nuclear receptors., [RefSeq, PubMed]; Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L., [RefSeq, PubMed]; Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double-strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1-promoted homologous pairing. May inhibit HIV-1 viral protein TAT activity and modulate the activity of proteasomes through association with PSMC3. Acts as a tissue specific coactivator of hormone-dependent transcription mediated by nuclear receptors., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011]., [RefSeq]; Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C5ILB7;Q14458;Q8WXG2;Q96HA2", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003690 double-stranded DNA binding;GO:0120230 recombinase activator activity", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005654 nucleoplasm;GO:0120231 DNA recombinase auxiliary factor complex;GO:0005634 nucleus", "go_biological_process": "GO:0007129 homologous chromosome pairing at meiosis;GO:0007131 reciprocal meiotic recombination;GO:0000709 meiotic joint molecule formation;GO:0010774 meiotic strand invasion involved in reciprocal meiotic recombination;GO:0006310 DNA recombination", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9P2W1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3E1-1", "uniprot_id": "HDGR3_HUMAN", "mass": 22620.0, "length": 203, "protein_name": "Hepatoma-derived growth factor-related protein 3", "gene_name": "HDGFL3", "organism": "Human", "refseq_name": "hepatoma-derived growth factor-related protein 3", "refseq_ac": "NP_057157", "gene_names_uniprotkb": "HDGFL3; CGI-142; HDGF2; HDGFRP3", "gene_names_refseq": "CGI-142; HDGF-2; HDGF2; HDGFL3; HDGFRP3; HRP-3", "protein_names_uniprotkb": "Hepatoma-derived growth factor-related protein 3; HDGF-2; HRP-3; Hepatoma-derived growth factor 2", "protein_names_refseq": "hepatoma-derived growth factor 2; hepatoma-derived growth factor, related protein 3; hepatoma-derived growth factor-related protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:50810)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10581169;11237011;15371438;17081983;18452278;19237540;21406692;23301498;24012673;28854847;29242379;30379171;31154438;31162607;32157095;32161166;34714604;36794849;37681334;40596516", "class_list": "", "function": "A novel function of HRP-3 in regulating cell cycle progression via the HDAC-E2F1-Cyclin E pathway in lung cancer., [RefSeq, PubMed]; Bulk RNA-Seq Combined with Single-Cell Transcriptome Sequencing Reveals the Possible Mechanisms by Which HDGFL3 Involves in Prostate Cancer Growth and Metastasis., [RefSeq, PubMed]; Depletion of HRP-3 induces apoptosis of radio- and chemoresistant A549 cells. HRP-3 is essential for regulating reactive oxygen species-dependent, p53-induced cell death., [RefSeq, PubMed]; Enhances DNA synthesis and may play a role in cell proliferation., [UniProtKB, PubMed]; HDGFRP3 interaction with 53BP1 promotes DNA double-strand break repair. Erratum:[Nucleic Acids Res. 2024 Mar 21;52(5):2759-2760. doi: 10.1093/nar/gkae146. PMID: 38407480], [RefSeq, PubMed]; HRP3 PWWP is a new family of minor groove-specific DNA-binding proteins, [RefSeq, PubMed]; Hepatoma-derived growth factor-related protein-3 interacts with microtubules and promotes neurite outgrowth in mouse cortical neurons, [RefSeq, PubMed]; LEDGF/p75 and HRP2 IBDs avidly bind HIV-1 Integrase, share a similar domain organization and have an evident evolutionary and likely functional relationship, [RefSeq, PubMed]; The study observed higher expression levels of HDGFRP3 and ID2 in bipolar disorder (BD) patients who favourably respond to lithium. Both of these genes are involved in neurogenesis, and HDGFRP3 has been suggested to be a neurotrophic factor., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding;GO:0008083 growth factor activity;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046785 microtubule polymerization;GO:0031175 neuron projection development;GO:0007026 negative regulation of microtubule depolymerization", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9Y3E1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y661-1", "uniprot_id": "HS3S4_HUMAN", "mass": 49799.0, "length": 456, "protein_name": "Heparan sulfate glucosamine 3-O-sulfotransferase 4", "gene_name": "HS3ST4", "organism": "Human", "refseq_name": "heparan sulfate glucosamine 3-O-sulfotransferase 4", "refseq_ac": "NP_006031", "gene_names_uniprotkb": "HS3ST4; 3OST4", "gene_names_refseq": "3-OST-4; 30ST4; 3OST4; HS3ST4; h3-OST-4", "protein_names_uniprotkb": "Heparan sulfate glucosamine 3-O-sulfotransferase 4; 2.8.2.-; 3-OST-4; Heparan sulfate 3-O-sulfotransferase 4; Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4; h3-OST-4", "protein_names_refseq": "heparan sulfate (glucosamine) 3-O-sulfotransferase 4; heparan sulfate 3-O-sulfotransferase 4; heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4; heparan sulfate glucosamine 3-O-sulfotransferase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:9951); (R-HSA-2022928)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10318803;10639137;10644753;10677367;10716625;11087757;11169766;11274177;11279150;11390981;12138164;12492399;15082721;15607426;16343444;17482450;18757372;20554947;21700882;25648963;25892735;28132690;28148688;30471091;33159882;34087483;34351732;34904858;35051231;35676258;7601448;9346953;9463333;9535912;9915799;9988767", "class_list": "glycogene", "function": "3-OST-2 and 3-OST-4 are the major neural gD-type 3-OSTs, and so are prime candidates for participating in HS-dependent neurobiologic events., [RefSeq, PubMed]; Heparan sulfate 3-O-sulfotransferase 4 is genetically associated with herpes zoster and enhances varicella-zoster virus-mediated fusogenic activity., [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to the 3-O- position of an N-sulfoglucosamine residue in heparan sulfate (PubMed:34351732). Is able to install the 3-O-sulfo group in a disaccharide domain consisting of -GlcA2S-GlcNS- to form the -GlcA2S-GlcNS3S- sequence, and in -IdoA2S-GlcNS-IdoA2S- to form -IdoA2S-GlcNS3S-IdoA2S- (PubMed:34351732). Does not sulfate the -GlcA-GlcNS-IdoA2S- domain (PubMed:34351732)., [UniProtKB, PubMed]; The 3OST-2 and -4 are specifically expressed in brain., [RefSeq, PubMed]; This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; This study provided that additional genome-wide associations, near HS3ST4 were identified and other putative modulators of memory performance were revealed by a pathway approach and hippocampal gene expression analyses., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 659, "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": "Q5QI42;Q8NDC2", "ec_number_list": "2.8.2.23;2.8.2.-;2.8.2.29;2.8.2.30", "go_molecular_function": "GO:0008467 [heparan sulfate]-glucosamine 3-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0030201 heparan sulfate proteoglycan metabolic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9Y661-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBC0-1", "uniprot_id": "HNF6_HUMAN", "mass": 51023.0, "length": 465, "protein_name": "Hepatocyte nuclear factor 6", "gene_name": "ONECUT1", "organism": "Human", "refseq_name": "hepatocyte nuclear factor 6", "refseq_ac": "NP_004489", "gene_names_uniprotkb": "ONECUT1; HNF6A; HNF6", "gene_names_refseq": "HNF-6; HNF6A; HNF6; ONECUT1", "protein_names_uniprotkb": "Hepatocyte nuclear factor 6; HNF-6; One cut domain family member 1; One cut homeobox 1", "protein_names_refseq": "hepatocyte nuclear factor 6, alpha; hepatocyte nuclear factor 6; one cut domain family member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3175); (R-HSA-210744); (R-HSA-210747); (R-HSA-9925561); (R-HSA-9925563); (R-HSA-9937080)", "pathway_count": 6, "publication_count": 12, "publication_id_list": "10491763;11237011;25576301;29557506;30315122;30379171;30779550;31049588;34663987;34789845;35482136;38253038", "class_list": "", "function": "Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients., [RefSeq, PubMed]; Data show that chromatin regions that contain the ONECUT motif were in- or lowly accessible in fibroblasts and became accessible after the overexpression of ONECUT1, ONECUT2 or ONECUT3., [RefSeq, PubMed]; Mutations and variants of ONECUT1 in diabetes., [RefSeq, PubMed]; This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]., [RefSeq]; Transcriptional activator. Binds the consensus sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR. Important for liver genes transcription., [UniProtKB]; Transcriptional changes and the role of ONECUT1 in hPSC pancreatic differentiation. 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": 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": "B2RTV4;Q99744;Q9UMR6", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9UBC0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZI9-1", "uniprot_id": "IFNL3_HUMAN", "mass": 21706.0, "length": 196, "protein_name": "Interferon lambda-3", "gene_name": "IFNL3", "organism": "Human", "refseq_name": "interferon lambda-3 isoform 1 precursor", "refseq_ac": "NP_001333866", "gene_names_uniprotkb": "IFNL3; IL28B; IL28C; ZCYTO22", "gene_names_refseq": "IFN-lambda-3; IFN-lambda-4; IFNL3; IL-28B; IL-28C; IL28B; IL28C", "protein_names_uniprotkb": "Interferon lambda-3; Cytokine Zcyto22; IFN-lambda-3; IL-28B; IL-28C; Interleukin-28B; Interleukin-28C", "protein_names_refseq": "cytokine Zcyto22; interferon lambda-3 isoform 1 precursor; interferon, lambda 4; interleukin-28B; interleukin-28C", "tax_id": 9606, "disease": "thrombocytopenia (Disease Ontology:DOID:1588); hepatitis C (Disease Ontology:DOID:1883); cryoglobulinemia (Disease Ontology:DOID:2917); liver cirrhosis (Disease Ontology:DOID:5082)", "pathway": " (hsa:282617); (R-HSA-8854691)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10875937;11163236;11196675;11237011;11390453;11390454;11481447;11564763;11706020;12087100;12351624;12469119;12483210;14580208;14764663;15120653;15166220;15178681;15919823;16478884;16539846;1662392;16750817;16982608;17878297;18599299;18669613;18830264;18941194;19457860;19535621;20462497;20671117;20712453;20966397;21098725;22802649;22962576;24715725;24751921;25004819;27133025;28458652;29557506;29789417;36682084;36708570;37812032;38193711;38406928;7512451;7543512;8830676", "class_list": "", "function": "Closely positioned genes on human chromosome 19 encode distinct but paralogous proteins, which we designate interferon-lambda1 (IFN-lambda1), IFN-lambda2 and IFN-lambda3, [RefSeq, PubMed]; Cytokine with antiviral, antitumour and immunomodulatory activities. Plays a critical role in the antiviral host defense, predominantly in the epithelial tissues. Acts as a ligand for the heterodimeric class II cytokine receptor composed of IL10RB and IFNLR1, and receptor engagement leads to the activation of the JAK/STAT signaling pathway resulting in the expression of IFN-stimulated genes (ISG), which mediate the antiviral state. Has a restricted receptor distribution and therefore restricted targets: is primarily active in epithelial cells and this cell type-selective action is because of the epithelial cell-specific expression of its receptor IFNLR1. Seems not to be essential for early virus-activated host defense in vaginal infection, but plays an important role in Toll-like receptor (TLR)-induced antiviral defense. Plays a significant role in the antiviral immune defense in the intestinal epithelium. Exerts an immunomodulatory effect by up-regulating MHC class I antigen expression., [UniProtKB, PubMed, PubMed]; IFN-lambda3 and CCL17 as predictors of disease progression in patients with mild to moderate COVID-19: A cohort study in a real-world setting., [RefSeq, PubMed]; IFN-lambda3 is induced by Leishmania donovani and can inhibit parasite growth in cell line models but not in the mouse model, while it shows a significant association with leishmaniasis in humans., [RefSeq, PubMed]; IFN-lambdas are thus able to generate tolerogenic DCs, an activity that could thwart IFN-beta functions, [RefSeq, PubMed]; Identified from the human genomic sequence a family of three cytokines, designated interleukin 28A (IL-28A), IL-28B and IL-29, that are distantly related to type I interferons (IFNs) and the IL-10 family, [RefSeq, PubMed]; Its all about IFN-lambda4: Protective role of IFNL4 polymorphism against COVID-19-related pneumonia in females., [RefSeq, PubMed]; Predictive Potential Of Il28b Gene In Hcv Patients, Resistant To Daclatasvir And Sofosbuvir In KPK Population., [RefSeq, PubMed]; The Impact of interferon lambda 3 Polymorphism on Hepato-Cellular Carcinoma Progression in Hepatitis C Virus Patients: Treatment-Naive and Experienced. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28A (IL28A), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [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": 6, "reported_glycation": 0, "reported_snv": 10, "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": "A2BDE1;Q6VN56;Q7Z4J3;Q8IWL6", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0045071 negative regulation of viral genome replication;GO:0098586 cellular response to virus;GO:0050778 positive regulation of immune response", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8IZI9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NNB3-1", "uniprot_id": "IFM5_HUMAN", "mass": 14378.0, "length": 132, "protein_name": "Interferon-induced transmembrane protein 5", "gene_name": "IFITM5", "organism": "Human", "refseq_name": "interferon-induced transmembrane protein 5", "refseq_ac": "NP_001020466", "gene_names_uniprotkb": "IFITM5", "gene_names_refseq": "BRIL; DSPA1; Hrmp1; IFITM5; OI5; fragilis4", "protein_names_uniprotkb": "Interferon-induced transmembrane protein 5; BRIL; Bone-restricted interferon-induced transmembrane protein-like protein; DSPA1; Dispanin subfamily A member 1", "protein_names_refseq": "bone-restricted ifitm-like protein; bone-restricted interferon-induced transmembrane protein-like protein; dispanin subfamily A member 1; interferon-induced transmembrane protein 5", "tax_id": 9606, "disease": "osteogenesis imperfecta type 5 (Disease Ontology:DOID:0110344)", "pathway": " (hsa:387733)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "22363774;22863190;24058703;24519609;24674092;25576301;31159867;33360005;35216266", "class_list": "", "function": "Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V., [RefSeq, PubMed]; Required for normal bone mineralization., [UniProtKB, PubMed]; The IFITM5 5' UTR was sequenced in 9 heterozygous subjects with osteogenesis imperfecta type V. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone. Identical mutations have variable phenotypic expression, even within the same family. Publication Status: Online-Only, [RefSeq, PubMed]; The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]., [RefSeq]; We suggest that all patients negative for COL1A1/2 pathogenic variants be tested for the presence of an IFITM5 pathogenic variant, even if they are not expressing typical osteogenesis imperfecta V symptoms. 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": 3, "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_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0001701 in utero embryonic development;GO:0060349 bone morphogenesis;GO:0030500 regulation of bone mineralization;GO:0030282 bone mineralization", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6NNB3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01584-1", "uniprot_id": "IL1B_HUMAN", "mass": 30748.0, "length": 269, "protein_name": "Interleukin-1 beta", "gene_name": "IL1B", "organism": "Human", "refseq_name": "interleukin-1 beta proprotein", "refseq_ac": "NP_000567", "gene_names_uniprotkb": "IL1B; IL1F2", "gene_names_refseq": "IL-1; IL1-BETA; IL1B; IL1F2; IL1beta", "protein_names_uniprotkb": "Interleukin-1 beta; Catabolin; IL-1 beta", "protein_names_refseq": "IL-1 beta; catabolin; interleukin 1beta; interleukin-1 beta proprotein; preinterleukin 1 beta; pro-interleukin-1-beta", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); obstructive sleep apnea (Disease Ontology:DOID:0050848); glomerulosclerosis (Disease Ontology:DOID:0050851); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); myelodysplastic syndrome (Disease Ontology:DOID:0050908); colitis (Disease Ontology:DOID:0060180); alcohol-associated liver disease (Disease Ontology:DOID:0070658); mucositis (Disease Ontology:DOID:0080178); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); COVID-19 (Disease Ontology:DOID:0080600); urinary tract infection (Disease Ontology:DOID:0080784); Parkinsonism (Disease Ontology:DOID:0080855); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); keratoconus (Disease Ontology:DOID:10126); dry eye syndrome (Disease Ontology:DOID:10140); thalassemia (Disease Ontology:DOID:10241); pleurisy (Disease Ontology:DOID:10247); common cold (Disease Ontology:DOID:10459); stomach cancer (Disease Ontology:DOID:10534); pleural tuberculosis (Disease Ontology:DOID:106); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); otitis media (Disease Ontology:DOID:10754); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); membranous glomerulonephritis (Disease Ontology:DOID:10976); urinary bladder cancer (Disease Ontology:DOID:11054); hydronephrosis (Disease Ontology:DOID:11111); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); osteoporosis (Disease Ontology:DOID:11476); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); nephrotic syndrome (Disease Ontology:DOID:1184); primary biliary cholangitis (Disease Ontology:DOID:12236); varicocele (Disease Ontology:DOID:12337); Graves' disease (Disease Ontology:DOID:12361); paracoccidioidomycosis (Disease Ontology:DOID:12662); agranulocytosis (Disease Ontology:DOID:12987); retinopathy of prematurity (Disease Ontology:DOID:13025); crescentic glomerulonephritis (Disease Ontology:DOID:13139); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); Kawasaki disease (Disease Ontology:DOID:13378); hypolipoproteinemia (Disease Ontology:DOID:1387); polyneuropathy (Disease Ontology:DOID:1389); Parkinson's disease (Disease Ontology:DOID:14330); cystic fibrosis (Disease Ontology:DOID:1485); alcohol use disorder (Disease Ontology:DOID:1574); thrombocytopenia (Disease Ontology:DOID:1588); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); cystitis (Disease Ontology:DOID:1679); retinal vein occlusion (Disease Ontology:DOID:1727); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); hepatitis C (Disease Ontology:DOID:1883); dental caries (Disease Ontology:DOID:216); thrombocytosis (Disease Ontology:DOID:2228); transient cerebral ischemia (Disease Ontology:DOID:224); arteriosclerosis (Disease Ontology:DOID:2349); anemia (Disease Ontology:DOID:2355); multiple sclerosis (Disease Ontology:DOID:2377); nephrosis (Disease Ontology:DOID:2527); asthma (Disease Ontology:DOID:2841); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); bronchiolitis (Disease Ontology:DOID:2942); pulmonary tuberculosis (Disease Ontology:DOID:2957); IgA glomerulonephritis (Disease Ontology:DOID:2986); familial Mediterranean fever (Disease Ontology:DOID:2987); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); brain infarction (Disease Ontology:DOID:3454); middle cerebral artery infarction (Disease Ontology:DOID:3525); gastric adenocarcinoma (Disease Ontology:DOID:3717); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); tuberculosis (Disease Ontology:DOID:399); systemic scleroderma (Disease Ontology:DOID:418); hyperglycemia (Disease Ontology:DOID:4195); cervical cancer (Disease Ontology:DOID:4362); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); endophthalmitis (Disease Ontology:DOID:4692); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); pancreatitis (Disease Ontology:DOID:4989); esophageal cancer (Disease Ontology:DOID:5041); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); cochlear disease (Disease Ontology:DOID:5463); pneumonia (Disease Ontology:DOID:552); eye disease (Disease Ontology:DOID:5614); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); periodontitis (Disease Ontology:DOID:824); osteoarthritis (Disease Ontology:DOID:8398); extrinsic allergic alveolitis (Disease Ontology:DOID:841); lung disease (Disease Ontology:DOID:850); chronic myeloid leukemia (Disease Ontology:DOID:8552); ulcerative colitis (Disease Ontology:DOID:8577); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); cholesteatoma (Disease Ontology:DOID:869); vascular dementia (Disease Ontology:DOID:8725); bacterial pneumonia (Disease Ontology:DOID:874); diabetic retinopathy (Disease Ontology:DOID:8947); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352); status asthmaticus (Disease Ontology:DOID:9362); epididymitis (Disease Ontology:DOID:9402); acute myocardial infarction (Disease Ontology:DOID:9408); steatotic liver disease (Disease Ontology:DOID:9452); multiple myeloma (Disease Ontology:DOID:9538); bronchiectasis (Disease Ontology:DOID:9563); encephalitis (Disease Ontology:DOID:9588); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3553); (R-HSA-448706); (R-HSA-5620971); (R-HSA-5660668); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-9020702); (R-HSA-9660826); (R-HSA-9960519); (R-HSA-9960525)", "pathway_count": 10, "publication_count": 287, "publication_id_list": "10023775;10075690;10092818;10219247;10369418;10415057;10433356;10510379;10514433;10586089;10653850;10702308;10854325;10867011;10882101;10918611;11058569;11084045;11094434;11104795;11120780;11237011;11278437;11278729;11313357;11356008;11404481;11463377;11728343;11960013;11960372;11991722;12223527;12242343;12496252;12538665;12554859;12600988;12626585;12646168;12791687;12794819;12832402;12860405;1460289;14625308;14634100;14712222;15116091;15192144;15261459;15584925;1574116;15805299;15869882;15917247;15919823;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16451196;16510571;16540365;16606674;16897187;16962260;16982608;17135271;17141195;17427945;17431422;17458857;17507369;17572495;17641058;17675297;17890055;17997719;18070982;18180283;18243101;1828071;1833184;18353781;1837236;18438411;18447642;18644974;19124156;19185846;1919436;19264966;19397496;1940369;1940799;19859801;19903815;2001363;20145033;20148899;20493732;20802483;21102457;21109482;21252155;2139180;2147937;21689689;21730069;21937440;21994466;22046235;22205702;22267217;22383755;22693070;22851691;23086340;23124025;23172665;23455323;23555662;2372550;23817414;23878142;23955712;23967200;24097101;24201029;24715725;24743777;24952504;25234944;25576301;2585509;2587933;2602367;26116704;26154972;2635664;26375003;26508369;26992070;27281216;27383986;27418190;27466718;27543614;27846572;27862975;2786529;2787508;28045099;28331908;28392147;28459430;28832583;29030430;29177860;29242379;2946959;29493099;29539421;2954882;29557506;29891674;2989698;29898893;29990470;30001391;30143555;30429286;30976076;31113851;31844290;31986264;32109412;32157095;32188940;32272059;32367036;32488085;32502341;32511562;32576222;3259176;32719155;3281727;32820063;32897882;32938616;32983136;33377178;33592498;33717175;33723046;33883744;33968037;3490654;34932366;3493774;35051231;35580925;36284347;36581221;37558421;37993712;37993714;38937528;39002004;39059376;39181275;3920526;39208402;6083565;7510216;7512027;7512451;7516408;7529288;7543512;7593617;7594602;7628694;7683661;7684412;7687627;7689226;7795521;7796300;7898939;7902377;7907877;8044845;8063757;8085155;8102388;8120391;8163946;8186324;8301137;8327496;8332913;8537680;8599092;8602263;8621622;8662928;8663118;8668165;8734788;8742066;8797861;8816495;8837778;8871669;8897595;8910398;8921438;8946277;8999548;9013879;9013939;9062193;9121587;9312047;9346484;9354687;9371760;9430229;9449724;9550426;9651359;9723655;9736340;9794440;9822675;9836587;9859996;9874564;9918218;9990852;9990853", "class_list": "glycogene", "function": "Effect of alpha7 nAChR-autophagy axis of deciduous tooth pulp stem cells in regulating IL-1beta in the process of physiological root resorption of deciduous teeth., [RefSeq, PubMed]; Human microglia-derived proinflammatory cytokines facilitate human retinal ganglion cell development and regeneration., [RefSeq, PubMed]; Intense impact of IL-1beta expressing inflammatory macrophages in acute aortic dissection. Publication Status: Online-Only, [RefSeq, PubMed]; NLRP12 c.1382dup promotes the development of Crohn's disease through the ERK/NLRP3/ IL-1beta pathway., [RefSeq, PubMed]; Potent pro-inflammatory cytokine (PubMed:10653850, PubMed:12794819, PubMed:28331908, PubMed:3920526). Initially discovered as the major endogenous pyrogen, induces prostaglandin synthesis, neutrophil influx and activation, T-cell activation and cytokine production, B-cell activation and antibody production, and fibroblast proliferation and collagen production (PubMed:3920526). Promotes Th17 differentiation of T-cells. Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells (PubMed:10653850). Plays a role in angiogenesis by inducing VEGF production synergistically with TNF and IL6 (PubMed:12794819). Involved in transduction of inflammation downstream of pyroptosis: its mature form is specifically released in the extracellular milieu by passing through the gasdermin-D (GSDMD) pore (PubMed:33377178, PubMed:33883744). Acts as a sensor of S.pyogenes infection in skin: cleaved and activated by pyogenes SpeB protease, leading to an inflammatory response that prevents bacterial growth during invasive skin infection (PubMed:28331908)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Potent pro-inflammatory cytokine. Initially discovered as the major endogenous pyrogen, induces prostaglandin synthesis, neutrophil influx and activation, T-cell activation and cytokine production, B-cell activation and antibody production, and fibroblast proliferation and collagen production. Promotes Th17 differentiation of T-cells. Synergizes with IL12/interleukin-12 to induce IFNG synthesis from T-helper 1 (Th1) cells. Plays a role in angiogenesis by inducing VEGF production synergistically with TNF and IL6. Involved in transduction of inflammation downstream of pyroptosis: its mature form is specifically released in the extracellular milieu by passing through the gasdermin-D (GSDMD) pore., [UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. Similarly, IL-1B has been implicated in human osteoarthritis pathogenesis. Patients with severe Coronavirus Disease 2019 (COVID-19) present elevated levels of pro-inflammatory cytokines such as IL-1B in bronchial alveolar lavage fluid samples. The lung damage induced by the Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is to a large extent, a result of the inflammatory response promoted by cytokines such as IL-1B. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2020]., [RefSeq]; Tissue resident cells differentiate S. aureus from S. epidermidis via IL-1beta following barrier disruption in healthy human skin. 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": 12, "reported_glycation": 0, "reported_snv": 314, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "monitoring; prognostic; diagnostic", "glycan_count": 0, "disease_count": 124, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53X59;Q53XX2;Q7M4S7;Q7RU01;Q96HE5;Q9UCT6", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0019904 protein domain specific binding;GO:0005125 cytokine activity;GO:0005149 interleukin-1 receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0030141 secretory granule;GO:0005764 lysosome", "go_biological_process": "GO:0060355 positive regulation of cell adhesion molecule production;GO:0002711 positive regulation of T cell mediated immunity;GO:0010829 negative regulation of D-glucose transmembrane transport;GO:0014805 smooth muscle adaptation;GO:0070164 negative regulation of adiponectin secretion", "synthesized_glycan_count": 0, "hit_score": 28.8, "record_id": "P01584-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13651-1", "uniprot_id": "I10R1_HUMAN", "mass": 63003.0, "length": 578, "protein_name": "Interleukin-10 receptor subunit alpha", "gene_name": "IL10RA", "organism": "Human", "refseq_name": "interleukin-10 receptor subunit alpha isoform 1 precursor", "refseq_ac": "NP_001549", "gene_names_uniprotkb": "IL10RA; IL10R", "gene_names_refseq": "CD210a; CD210; CDW210A; HIL-10R; IL-10R1; IL10RA; IL10R", "protein_names_uniprotkb": "Interleukin-10 receptor subunit alpha; CDw210a; IL-10 receptor subunit alpha; IL-10R subunit 1; IL-10R subunit alpha; IL-10R1; IL-10RA; Interleukin-10 receptor subunit 1", "protein_names_refseq": "IL-10 receptor subunit alpha; IL-10R subunit 1; IL-10R subunit alpha; interleukin 10 receptor, alpha; interleukin-10 receptor alpha chain; interleukin-10 receptor subunit 1; interleukin-10 receptor subunit alpha isoform 1 precursor", "tax_id": 9606, "disease": "inflammatory bowel disease 28 (Disease Ontology:DOID:0110899)", "pathway": " (hsa:3587); (R-HSA-6783783); (R-HSA-9725371)", "pathway_count": 3, "publication_count": 112, "publication_id_list": "10092818;10415057;10433356;11169414;11237011;11485736;11751994;12093920;12133952;12554859;12626585;12748172;12832402;1460289;15340161;15837194;15919823;16009132;16982608;17110082;17111047;17416736;17690253;17922009;18024471;18097461;1940369;1940799;19890111;20015877;20145033;20493732;21715655;22087322;22955283;23719902;23839161;24060861;24190977;24743777;24785691;25818168;26962683;27405747;27553022;27920218;28228285;28514659;28832583;28834231;29242379;29393594;29557506;29588546;30315122;30429286;30692217;31217245;31366041;31390744;31434245;31844290;32157095;32350084;32357974;32983136;33043033;33595140;33849446;33912179;33968037;34185709;34357683;34879221;35051231;35154160;35580925;37511050;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7684412;7687627;7902377;8063757;8102388;8120391;8163946;8186324;8301137;8537680;8662928;8734788;8742066;8871669;8897595;8910398;8921438;8946277;9013939;9312047;9354687;9449724;9550426;9794440;9836587;9918218;9930702", "class_list": "", "function": "Association of IL10RA, IL10RB, and IL22RA Polymorphisms/Haplotypes with Susceptibility to and Clinical Manifestations of SLE. Publication Status: Online-Only, [RefSeq, PubMed]; Cell surface receptor for the cytokine IL10 that participates in IL10-mediated anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Upon binding to IL10, induces a conformational change in IL10RB, allowing IL10RB to bind IL10 as well (PubMed:16982608). In turn, the heterotetrameric assembly complex, composed of two subunits of IL10RA and IL10RB, activates the kinases JAK1 and TYK2 that are constitutively associated with IL10RA and IL10RB respectively (PubMed:12133952). These kinases then phosphorylate specific tyrosine residues in the intracellular domain in IL10RA leading to the recruitment and subsequent phosphorylation of STAT3. Once phosphorylated, STAT3 homodimerizes, translocates to the nucleus and activates the expression of anti-inflammatory genes. In addition, IL10RA-mediated activation of STAT3 inhibits starvation-induced autophagy (PubMed:26962683)., [UniProtKB, PubMed, PubMed, PubMed]; Characterization of novel and large fragment deletions in exon 1 of the IL10RA gene in Chinese children with very early onset inflammatory bowel diseases. Publication Status: Online-Only, [RefSeq, PubMed]; IL-10 receptor expression on lymphocytes and monocytes in children with food allergy., [RefSeq, PubMed]; Interleukin-10 receptor signaling promotes the maintenance of a PD-1(int) TCF-1(+) CD8(+) T cell population that sustains anti-tumor immunity., [RefSeq, PubMed]; The protein encoded by this gene is a receptor for interleukin 10. This protein is structurally related to interferon receptors. It has been shown to mediate the immunosuppressive signal of interleukin 10, and thus inhibits the synthesis of proinflammatory cytokines. This receptor is reported to promote survival of progenitor myeloid cells through the insulin receptor substrate-2/PI 3-kinase/AKT pathway. Activation of this receptor leads to tyrosine phosphorylation of JAK1 and TYK2 kinases. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2009]., [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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K6I0;B0YJ27", "ec_number_list": "", "go_molecular_function": "GO:0019969 interleukin-10 binding;GO:0004920 interleukin-10 receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0032496 response to lipopolysaccharide;GO:0050728 negative regulation of inflammatory response;GO:0010507 negative regulation of autophagy;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q13651-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q71H61-1", "uniprot_id": "ILDR2_HUMAN", "mass": 71200.0, "length": 639, "protein_name": "Immunoglobulin-like domain-containing receptor 2", "gene_name": "ILDR2", "organism": "Human", "refseq_name": "immunoglobulin-like domain-containing receptor 2 isoform 1 precursor", "refseq_ac": "NP_955383", "gene_names_uniprotkb": "ILDR2; C1orf32", "gene_names_refseq": "C1orf32; ILDR2; dJ782G3.1", "protein_names_uniprotkb": "Immunoglobulin-like domain-containing receptor 2; Angulin-3", "protein_names_refseq": "angulin-3; immunoglobulin-like domain-containing receptor 2 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:387597)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19064610;19536175;27353377;28904123;29431694;29557506;31844290;33392160;34357683;34932366;35051231", "class_list": "", "function": "May be involved in ER stress pathways with effects on lipid homeostasis and insulin secretion. With ILDR1 and LSR, involved in the maintain of the epithelial barrier function through the recruitment of MARVELD2/tricellulin to tricellular tight junctions (By similarity). Also functions as a B7-like protein family member expressed on immune cells and inflamed tissue and with T-cell inhibitory activity (PubMed:29431694). In the inner ear, may regulate alternative pre-mRNA splicing via binding to TRA2A, TRA2B and SRSF1 (By similarity)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; We demonstrated that ZNF70 interacts with ZFP64 and activates HES1 transcription by binding to the HES1 promoter. In addition, HES1 gene expression is increased in ILDR2-knockdown HepG2 cells, in which ZNF70 is translocated from the cytoplasm to the nucleus, suggesting that ZNF70 migration to the nucleus after dissociating from the ILDR2-ZNF70 complex activates HES1 transcription. These results support a novel link betwee, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005923 bicellular tight junction;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0070160 tight junction", "go_biological_process": "GO:0031016 pancreas development;GO:0043484 regulation of RNA splicing;GO:0050868 negative regulation of T cell activation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q71H61-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96BM0-1", "uniprot_id": "I27L1_HUMAN", "mass": 9549.0, "length": 104, "protein_name": "Interferon alpha-inducible protein 27-like protein 1", "gene_name": "IFI27L1", "organism": "Human", "refseq_name": "interferon alpha-inducible protein 27-like protein 1 precursor", "refseq_ac": "NP_660292", "gene_names_uniprotkb": "IFI27L1; FAM14B", "gene_names_refseq": "FAM14B; IFI27L1; ISG12C", "protein_names_uniprotkb": "Interferon alpha-inducible protein 27-like protein 1; ISG12(c); ISG12C; Interferon-stimulated gene 12c protein", "protein_names_refseq": "ISG12(c) protein; family with sequence similarity 14, member B; interferon alpha-inducible protein 27-like protein 1 precursor; interferon alpha-inducible protein 27-like protein 1; interferon-stimulated gene 12c protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:122509)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;14728724;20237496;22609626;23481700;24715725;26154972;27673746;27777077;28228285;28904123;31844290;32157095;32161166;32350084;32357974;32387766;32502341;33141586;33691108;34087483;34171305;34509645;35051231;35251023;35580925;36241641", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in the apoptotic process and has a pro-apoptotic activity., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0060090 molecular adaptor activity", "go_cellular_component": "GO:0031966 mitochondrial membrane;GO:0016020 membrane", "go_biological_process": "GO:0006915 apoptotic process;GO:0097193 intrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q96BM0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TF58-1", "uniprot_id": "IFFO2_HUMAN", "mass": 57328.0, "length": 517, "protein_name": "Intermediate filament family orphan 2", "gene_name": "IFFO2", "organism": "Human", "refseq_name": "intermediate filament family orphan 2", "refseq_ac": "NP_001129737", "gene_names_uniprotkb": "IFFO2", "gene_names_refseq": "IFFO2", "protein_names_uniprotkb": "Intermediate filament family orphan 2", "protein_names_refseq": "intermediate filament family orphan 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:126917)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;25418920;25576301;26154972;26811146;26992070;27920218;28121444;28228285;28832583;29393594;29557506;29632046;29769354;30315122;30484775;31844290;32387766;32488085;33592498;34171305;35051231;36215666;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q9H7K0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q5TF58-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NEV9-1", "uniprot_id": "IL27A_HUMAN", "mass": 27493.0, "length": 243, "protein_name": "Interleukin-27 subunit alpha", "gene_name": "IL27", "organism": "Human", "refseq_name": "interleukin-27 subunit alpha precursor", "refseq_ac": "NP_663634", "gene_names_uniprotkb": "IL27; IL27A; IL30", "gene_names_refseq": "IL-27A; IL-27; IL27A; IL27p28; IL27; IL30; p28", "protein_names_uniprotkb": "Interleukin-27 subunit alpha; IL-27 subunit alpha; IL-27-A; IL27-A; Interleukin-30; p28", "protein_names_refseq": "IL-27 p28 subunit; IL-27 subunit alpha; IL-27-A; IL27-A; interleukin-27 subunit alpha precursor; interleukin-27 subunit alpha; interleukin-30", "tax_id": 9606, "disease": "pleural tuberculosis (Disease Ontology:DOID:106); lepromatous leprosy (Disease Ontology:DOID:10887); IgA vasculitis (Disease Ontology:DOID:11123); duodenal ulcer (Disease Ontology:DOID:1724); hepatitis B (Disease Ontology:DOID:2043); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); tuberculosis (Disease Ontology:DOID:399); systemic scleroderma (Disease Ontology:DOID:418); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); peptic ulcer disease (Disease Ontology:DOID:750); Cor pulmonale (Disease Ontology:DOID:8515); infectious mononucleosis (Disease Ontology:DOID:8568)", "pathway": " (hsa:246778); (R-HSA-9020956)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11237011;12121660;12734330;14565860;14657353;14764690;15793300;17068156;17294231;17318299;18191724;18292512;18389480;19933857;20519510;21631431;24771852;25992861;27119567;32983136;38690286;38742942;38932287;39063193;39422056;8483502;9342359", "class_list": "", "function": "An early product of activated antigen-presenting cells; drives rapid clonal expansion of naive but not memory CD4(+) T cells, [RefSeq, PubMed]; Associates with EBI3 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal expansion of naive but not memory CD4 T-cells. It also strongly synergizes with IL-12 to trigger interferon-gamma/IFN-gamma production of naive CD4 T-cells, binds to the cytokine receptor WSX-1/TCCR which appears to be required but not sufficient for IL-27-mediated signal transduction. IL-27 potentiate the early phase of TH1 response and suppress TH2 and TH17 differentiation. It induces the differentiation of TH1 cells via two distinct pathways, p38 MAPK/TBX21- and ICAM1/ITGAL/ERK-dependent pathways. It also induces STAT1, STAT3, STAT4 and STAT5 phosphorylation and activates TBX21/T-Bet via STAT1 with resulting IL12RB2 up-regulation, an event crucial to TH1 cell commitment. It suppresses the expression of GATA3, the inhibitor TH1 cells development. In CD8 T-cells, it activates STATs as well as GZMB. IL-27 reveals to be a potent inhibitor of TH17 cell development and of IL-17 production. Indeed IL27 alone is also able to inhibit the production of IL17 by CD4 and CD8 T-cells. While IL-27 suppressed the development of pro-inflammatory Th17 cells via STAT1, it inhibits the development of anti-inflammatory inducible regulatory T-cells, iTreg, independently of STAT1. IL-27 also has an effect on cytokine production, it suppresses pro-inflammatory cytokine production such as IL2, IL4, IL5 and IL6 and activates suppressors of cytokine signaling such as SOCS1 and SOCS3. Apart from suppression of cytokine production, IL-27 also antagonizes the effects of some cytokines such as IL6 through direct effects on T-cells. Another important role of IL-27 is its antitumor activity as well as its antiangiogenic activity with activation of production of antiangiogenic chemokines such as IP-10/CXCL10 and MIG/CXCL9. In vein endothelial cells, it induces IRF1/interferon regulatory factor 1 and increase the expression of MHC class II transactivator/CIITA with resulting up-regulation of major histocompatibility complex class II. IL-27 also demonstrates antiviral activity with inhibitory properties on HIV-1 replication., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; EBI3 may play a role, independently from its association to p28, in regulating anti-viral or anti-tumoral immune responses, [RefSeq, PubMed]; Emerging Roles of IL-27 in Trophoblast Cells and Pregnancy Complications. Review article, [RefSeq, PubMed]; IL-27 regulates IL-12 responsiveness of naive CD4+ T cells through Stat1-dependent and -independent mechanisms, [RefSeq, PubMed]; IL-27 triggers STAT activation and gene transcription of a subset of inflammatory cytokines in primary human mast cells and in human monocytes., [RefSeq, PubMed]; IL27 and IL1RN are causally associated with acute pancreatitis: a Mendelian randomization study., [RefSeq, PubMed]; Interleukin 27, Similar to Interferons, Modulates Gene Expression of Tripartite Motif (TRIM) Family Members and Interferes with Mayaro Virus Replication in Human Macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; Role of IL-27 in COVID-19: A Thin Line between Protection and Disease Promotion. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The effects of IL-27 and IL-35 gene variation and expression levels on the susceptibility and clinical manifestations of pulmonary tuberculosis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [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": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0N0L2;Q6P676", "ec_number_list": "", "go_molecular_function": "GO:0045523 interleukin-27 receptor binding;GO:0005102 signaling receptor binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol;GO:0009986 cell surface", "go_biological_process": "GO:0045625 regulation of T-helper 1 cell differentiation;GO:0070106 interleukin-27-mediated signaling pathway;GO:0006954 inflammatory response;GO:0043066 negative regulation of apoptotic process;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8NEV9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96S86-1", "uniprot_id": "HPLN3_HUMAN", "mass": 40894.0, "length": 360, "protein_name": "Hyaluronan and proteoglycan link protein 3", "gene_name": "HAPLN3", "organism": "Human", "refseq_name": "hyaluronan and proteoglycan link protein 3 isoform 1", "refseq_ac": "NP_001294881", "gene_names_uniprotkb": "HAPLN3; EXLD1; PRO271", "gene_names_refseq": "EXLD1; HAPLN3; HsT19883", "protein_names_uniprotkb": "Hyaluronan and proteoglycan link protein 3", "protein_names_refseq": "extracellular link domain containing, 1; hyaluronan and proteoglycan link protein 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:145864)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12663660;12975309;20664984;20950796;28832583;29242379;29786170;31433512;31844290;32488085;34185709;36284347", "class_list": "glycogene", "function": "DNA methylation levels at GAS6(growth arrest specific 6)/GSTP1(glutathione S-transferase pi 1)/HAPLN3(hyaluronan and proteoglycan link protein 3) genomic loci showed large differences between cancer and benign samples, [RefSeq, PubMed]; Elevated CLDN16 gene expression was suggested to be involved in the development of breast cancer and to be a biomarker and target treatment for breast cancer., [RefSeq, PubMed]; May function in hyaluronic acid binding., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [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": 506, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7P0", "ec_number_list": "", "go_molecular_function": "GO:0005540 hyaluronic acid binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0045202 synapse;GO:0072534 perineuronal net;GO:0140150 gel phase of interstitial matrix", "go_biological_process": "GO:0007155 cell adhesion;GO:0007417 central nervous system development;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96S86-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00458-1", "uniprot_id": "IFRD1_HUMAN", "mass": 50269.0, "length": 451, "protein_name": "Interferon-related developmental regulator 1", "gene_name": "IFRD1", "organism": "Human", "refseq_name": "interferon-related developmental regulator 1 isoform 1", "refseq_ac": "NP_001007246", "gene_names_uniprotkb": "IFRD1", "gene_names_refseq": "IFRD1; PC4; TIS7", "protein_names_uniprotkb": "Interferon-related developmental regulator 1; Nerve growth factor-inducible protein PC4", "protein_names_refseq": "12-O-tetradecanoylphorbol-13-acetate-induced sequence 7; TPA induced sequence 7; interferon-related developmental regulator 1 isoform 1; nerve growth factor-inducible protein PC4; pheochromocytoma cell-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:3475)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;19409521;19664994;20080976;21248752;23481700;2467301;24714562;25576301;25645385;26154972;26728094;26992070;27846572;27862975;27920218;2797820;28832583;28834231;29242379;29493099;29557506;29632046;29632711;29786170;30429286;30779550;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32265295;32488085;32502341;32938616;32983136;32992150;33592498;33912179;33981976;34534740;35051231;35318648;35580925;36241641;37217939;38664232;40914422;7756174;9722946;9822615", "class_list": "", "function": "Could play a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand-induced signal (By similarity)., [UniProtKB]; Disrupting the interaction between a p53 gain-of-function mutant and the transcriptional co-activator PC4 reverses drug resistance in cancer cells., [RefSeq, PubMed]; Functional ablation of PC4/IFRD1 in myoblast cells by sense and antisense strategies as well as by microinjection of PC4/IFRD1 antibodies, inhibits differentiation. GeneRIF: In the absence of PC4/IFRD1 skeletal muscle differentiation is defective., [RefSeq, PubMed]; IFRD1 mRNA decay stress-sensitive regulation is mediated by an upstream open reading frame, [RefSeq, PubMed]; IFRD1 regulates the asthmatic responses of airway via NF-kappaB pathway., [RefSeq, PubMed]; Identification of the IFRD gene family, comprising the two genes PC4 / Tis7 / IFRD1 and SKMc15 / IFRD2, and in situ-hybridization analysis of their expression during developments, [RefSeq, PubMed]; Insights on the disruption of the complex between human positive coactivator 4 and p53 by small molecules., [RefSeq, PubMed]; Sequence conservation, animal models, and protein structure evaluation support the involvement of IFRD1 in SMNA, [RefSeq, PubMed]; This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]., [RefSeq]; This reference (Tirone and Shooter 1989) shows the cloning and the sequence of the original IFRD1 homolog, isolated in rat as NGF-inducible immediate early gene (named PC4). GeneRIF: This reference shows the cloning and the sequence of the original IFRD1 homolog isolated in rat as nerve growth factor-inducible immediate early gene (named PC4)., [RefSeq, PubMed]; This reference shows the cloning and the sequence of the original IFRD1 homolog isolated in mouse as TPA-inducible immediate early gene (named Tis7)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7Z5G1;O75234;Q5U013;Q9BVE4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007518 myoblast fate determination;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O00458-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14732-1", "uniprot_id": "IMPA2_HUMAN", "mass": 31321.0, "length": 288, "protein_name": "Inositol monophosphatase 2", "gene_name": "IMPA2", "organism": "Human", "refseq_name": "inositol monophosphatase 2", "refseq_ac": "NP_055029", "gene_names_uniprotkb": "IMPA2; IMP.18P", "gene_names_refseq": "IMPA2", "protein_names_uniprotkb": "Inositol monophosphatase 2; 3.1.3.25; IMP 2; IMPase 2; Inositol-1(or 4)-monophosphatase 2; Myo-inositol monophosphatase A2", "protein_names_refseq": "IMP 2; IMPase 2; inosine monophosphatase 2; inositol monophosphatase 2; inositol(myo)-1(or 4)-monophosphatase 2; myo-inositol monophosphatase 2; myo-inositol monophosphatase A2", "tax_id": 9606, "disease": "bipolar disorder (Disease Ontology:DOID:3312); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:3613); (R-HSA-1855183)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10593988;10822345;11237011;11317223;12890864;1377913;15024000;15474001;15504365;15504367;17068342;1718960;17340635;18364358;20068231;24366607;24714562;25576301;26154972;27846572;27862975;27920218;28832583;28904123;29242379;29393594;29557506;30833945;31154438;31202813;31530632;31848261;32157095;32387766;32409648;32938616;32983136;33592498;33968037;34171305;35051231;35494241;35580925;38048842;7608176;7721860;7761412;8006039;8390685;9295334;9322233;9430698", "class_list": "", "function": "A novel function of IMPA2, plays a tumor-promoting role in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; IMPA2 promotes basal-like breast cancer aggressiveness by a MYC-mediated positive feedback loop., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phosphatase that can use myo-inositol monophosphates, myo-inositol 1,4-diphosphate, scyllo-inositol-1,4-diphosphate, glucose-1-phosphate, beta-glycerophosphate and 2'-AMP as substrates in vitro (PubMed:17068342). It is likely that IMPA2 has an as yet unidentified in vivo substrate(s) (PubMed:17068342). Has been implicated as the pharmacological target for lithium (Li(+)) action in brain (PubMed:17068342)., [UniProtKB, PubMed]; The crystal structures of human IMPA2 are useful for understanding the effect of nonsynonymous polymorphism reported in IMPA2, and will contribute to further functional analyses of IMPA2., [RefSeq, PubMed]; This locus encodes an inositol monophosphatase. The encoded protein catalyzes the dephosphoylration of inositol monophosphate and plays an important role in phosphatidylinositol signaling. This locus may be associated with susceptibility to bipolar disorder. [provided by RefSeq, Jan 2011]., [RefSeq]; We conclude that miR-25-mediated IMPA2 downregulation constitutes a novel signature for cancer metastasis and poor outcomes in clear cell renal cell carcinoma (ccRCC). We further postulate that the therapeutic targeting of miR-25 can be useful for preventing the metastatic progression of ccRCC associated with IMPA2 downregulation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ29;Q9UJT3", "ec_number_list": "3.1.3.25;3.1.3.94", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0008934 inositol monophosphate 1-phosphatase activity;GO:0052832 inositol monophosphate 3-phosphatase activity;GO:0052833 inositol monophosphate 4-phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006020 inositol metabolic process;GO:0007165 signal transduction;GO:0006796 phosphate-containing compound metabolic process;GO:0010226 response to lithium ion;GO:0006021 inositol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "O14732-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43364-1", "uniprot_id": "HXA2_HUMAN", "mass": 41002.0, "length": 376, "protein_name": "Homeobox protein Hox-A2", "gene_name": "HOXA2", "organism": "Human", "refseq_name": "homeobox protein Hox-A2", "refseq_ac": "NP_006726", "gene_names_uniprotkb": "HOXA2; HOX1K", "gene_names_refseq": "HOX1K; HOXA2; MCOHI", "protein_names_uniprotkb": "Homeobox protein Hox-A2; Homeobox protein Hox-1K", "protein_names_refseq": "homeobox protein Hox-1K; homeobox protein Hox-A2", "tax_id": 9606, "disease": "bilateral microtia-deafness-cleft palate syndrome (MONDO:MONDO:0012854)", "pathway": " (hsa:3199); (R-HSA-5617472); (R-HSA-9010553)", "pathway_count": 3, "publication_count": 56, "publication_id_list": "10777502;15867264;16079151;16549775;17185360;17428788;1756725;17660710;17713478;17761849;17851529;18394579;18781158;19115252;19232136;19706539;19747919;1975088;19782034;19854132;20085832;22569366;22705304;22879880;23217742;23219899;23534758;23630040;23746841;23775976;24174538;24312487;24586203;25101834;25135475;25242263;2570724;25913784;28832583;29557506;31323436;32324272;32436804;32649979;35372588;36215666;7488013;7501971;7831296;7906964;7908827;8674428;8759021;9218805;9272954;9482740", "class_list": "", "function": "A missense mutation in the HOXA2 in a consanguineous iranian family with bilateral microtia was reported. Erratum:[Am J Hum Genet. 2008 Sep;83(3):424], [RefSeq, PubMed]; Abnormally high expression of HOXA2 as an independent factor for poor prognosis in glioma patients., [RefSeq, PubMed]; Comprehensive Landscape of HOXA2, HOXA9, and HOXA10 as Potential Biomarkers for Predicting Progression and Prognosis in Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of loss-of-function HOXA2 mutations in Chinese families with dominant bilateral microtia., [RefSeq, PubMed]; In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]., [RefSeq]; LncRNA HOTAIRM1 promotes osteogenesis of hDFSCs by epigenetically regulating HOXA2 via DNMT1 in vitro., [RefSeq, PubMed]; Our experiments support that PPP1CB and KPC2 together inhibit the activity of HOXA2 by activating its nuclear export, but favored HOXA2 de-ubiquitination and stabilization thereby establishing a store of HOXA2 in the cytoplasm., [RefSeq, PubMed]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis., [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": "A1L4K3;B2RMW3", "ec_number_list": "", "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0060037 pharyngeal system development;GO:0048706 embryonic skeletal system development;GO:0061061 muscle structure development", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O43364-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01563-1", "uniprot_id": "IFNA2_HUMAN", "mass": 21578.0, "length": 188, "protein_name": "Interferon alpha-2", "gene_name": "IFNA2", "organism": "Human", "refseq_name": "interferon alpha-2 precursor", "refseq_ac": "NP_000596", "gene_names_uniprotkb": "IFNA2; IFNA2A; IFNA2B; IFNA2C", "gene_names_refseq": "IFN-alpha-2; IFN-alphaA; IFNA2B; IFNA2; IFNA; leIF A", "protein_names_uniprotkb": "Interferon alpha-2; IFN-alpha-2; Interferon alpha-A; LeIF A", "protein_names_refseq": "alpha-2a interferon; interferon alpha 2a; interferon alpha 2b; interferon alpha A; interferon alpha-2 precursor", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); common cold (Disease Ontology:DOID:10459); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:3440); (R-HSA-909733); (R-HSA-912694); (R-HSA-933541); (R-HSA-9705671); (R-HSA-983231); (R-HSA-9833109)", "pathway_count": 7, "publication_count": 205, "publication_id_list": "10022928;10395669;10421793;10542297;10581243;10982844;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;16710296;16914100;16959974;16987978;17001036;17027967;17196961;17251292;1730654;17327220;17351669;17392790;17969444;18035202;18508557;18575461;19193793;19293402;19479062;19668221;20043992;20130243;20363976;2049076;20496919;20530532;20627800;20643137;21632562;218813;2211721;22383950;22619329;22941947;23061660;23121362;23453971;23875128;24417533;2445813;24722368;25371710;25982860;26845023;30485383;30558248;31850239;32032529;32113509;32353859;32428392;32511913;32574262;32589897;32661006;32661059;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;38077399;38243615;3906813;6158094;6159537;6159538;6162102;6162107;6163083;6170983;6310510;6548414;688397;7510216;7526154;7537377;7540766;7627809;8197134;8232552;8234245;8605876;8621447;8662638;8702790;8816476;8943354;8994971;9065479;9096384;9121453;9230307;9242679;9326583;9331217;9334213;9417943;9422515;9425112;9654101;9660177;9660935;9694076;9822609;9847332;9861020;9927674", "class_list": "", "function": "Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients., [RefSeq, PubMed]; More rapid blood interferon alpha2 decline in fatal versus surviving COVID-19 patients. Publication Status: Online-Only, [RefSeq, PubMed]; Produced by macrophages, IFN-alpha have antiviral activities., [UniProtKB, PubMed]; The effects of TGF-beta1 and IFN-alpha2b on decorin, decorin isoforms and type I collagen in hypertrophic scar dermal fibroblasts., [RefSeq, PubMed]; The structure, mechanism of action and biological activities of IFNalpha2. [Review] Review article, [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. The encoded protein is effective in reducing the symptoms and duration of the common cold and in treating many types of cancer, including some hematological malignancies and solid tumors. A deficiency of type I interferon in the blood is thought to be a hallmark of severe COVID-19 and may provide a rationale for a combined therapeutic approach. [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": 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": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "H2DF54;H2DF55;P01564;Q14606;Q6DJX8;Q96KI6", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0032714 negative regulation of interleukin-5 production;GO:0002312 B cell activation involved in immune response;GO:0006954 inflammatory response;GO:0007166 cell surface receptor signaling pathway;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 21.8, "record_id": "P01563-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01567-1", "uniprot_id": "IFNA7_HUMAN", "mass": 22107.0, "length": 189, "protein_name": "Interferon alpha-7", "gene_name": "IFNA7", "organism": "Human", "refseq_name": "interferon alpha-7 precursor", "refseq_ac": "NP_066401", "gene_names_uniprotkb": "IFNA7", "gene_names_refseq": "IFN-alphaJ; IFNA-J; IFNA7", "protein_names_uniprotkb": "Interferon alpha-7; IFN-alpha-7; IFN-alpha-J1; Interferon alpha-J1; Interferon alpha-J; LeIF J", "protein_names_refseq": "IFN-alpha 7; IFN-alpha-J1; interferon alpha-7 precursor; interferon alpha-J1; interferon alpha-J; leIF J", "tax_id": 9606, "disease": "", "pathway": " (hsa:3444); (R-HSA-909733); (R-HSA-912694); (R-HSA-933541); (R-HSA-9705671); (R-HSA-983231); (R-HSA-9833109)", "pathway_count": 7, "publication_count": 188, "publication_id_list": "10022928;10395669;10421793;10542297;10581243;10982844;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;16710296;16914100;16987978;17027967;17196961;17251292;1730654;17327220;17351669;17392790;17969444;18035202;18508557;18575461;19193793;19293402;19479062;19668221;20043992;20130243;20237496;20331378;20363976;20530532;20627800;20643137;21632562;218813;2211721;22383950;22619329;22941947;23061660;23121362;23453971;24417533;24722368;25371710;26845023;2995168;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;34408239;34439781;34452305;34471099;34502139;34597346;35102342;35643212;37051252;4057246;6162102;6181262;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8662638;8702790;8816476;8910771;8943354;9065479;9096384;9121453;9230307;9242679;9326583;9331217;9334213;9422515;9425112;9660177;9660935;9822609;9847332;9861020;9927674", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase., [UniProtKB]; Secretome screening reveals immunomodulating functions of IFNalpha-7, PAP and GDF-7 on regulatory T-cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q14607;Q5VV14", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002312 B cell activation involved in immune response;GO:0007267 cell-cell signaling;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P01567-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01568-1", "uniprot_id": "IFN21_HUMAN", "mass": 21741.0, "length": 189, "protein_name": "Interferon alpha-21", "gene_name": "IFNA21", "organism": "Human", "refseq_name": "interferon alpha-21 precursor", "refseq_ac": "NP_002166", "gene_names_uniprotkb": "IFNA21", "gene_names_refseq": "IFN-alphaI; IFNA21; LeIF F; leIF-F", "protein_names_uniprotkb": "Interferon alpha-21; IFN-alpha-21; Interferon alpha-F; LeIF F", "protein_names_refseq": "IFN-alpha-21; interferon alpha-21 precursor; interferon alpha-F; leukocyte interferon protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:3452); (R-HSA-909733); (R-HSA-912694); (R-HSA-933541); (R-HSA-9705671); (R-HSA-983231); (R-HSA-9833109)", "pathway_count": 7, "publication_count": 188, "publication_id_list": "10022928;10395669;10421793;10542297;10581243;10982844;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;18508557;18575461;19193793;19293402;19479062;19668221;20043992;20130243;20363976;20530532;20627800;20643137;21632562;21757613;218813;2211721;22383950;22619329;22941947;23061660;23121362;23453971;24417533;24722368;25371710;26845023;30485383;30558248;31850239;32032529;32113509;32248921;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;3803589;6162102;6163083;6548414;6548765;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8662638;8702790;8816476;8910771;8943354;9065479;9096384;9121453;9230307;9242679;9326583;9331217;9334213;9422515;9425112;9660177;9660935;9822609;9847332;9861020;9927674", "class_list": "", "function": "IFNA21 may be involved in inflammatory processes in an age-dependent manner and in progression of coronary artery disease. Several 9p21 SNPs may modulate inflammatory processes mediated by IFNA21 and may, therefore, contribute to pathophysiology of coronary artery disease., [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]; Structural AA changes in the C-helix interacting with IFNAlphaR1 may change the signaling dynamics leading to elevated APOBEC3 & lower IDO by an engineered mutant derived from the amino-terminal region of IFNalpha21b and the COOH-terminus from IFNalpha2c., [RefSeq, PubMed]; This gene is a member of the alpha interferon gene cluster on the short arm of chromosome 9. Interferons are cytokines produced in response to viral infection that mediate the immune response and interfere with viral replication. The encoded protein is a type I interferon and may play a specific role in the antiviral response to rubella virus. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q14608;Q5VWD1;Q7M4Q4", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding;GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002312 B cell activation involved in immune response;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0002250 adaptive immune response;GO:0043330 response to exogenous dsRNA", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P01568-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01569-1", "uniprot_id": "IFNA5_HUMAN", "mass": 21942.0, "length": 189, "protein_name": "Interferon alpha-5", "gene_name": "IFNA5", "organism": "Human", "refseq_name": "interferon alpha-5 precursor", "refseq_ac": "NP_002160", "gene_names_uniprotkb": "IFNA5", "gene_names_refseq": "IFN-alpha-5; IFN-alphaG; IFNA5; INA5; INFA5; leIF G", "protein_names_uniprotkb": "Interferon alpha-5; IFN-alpha-5; Interferon alpha-61; Interferon alpha-G; LeIF G", "protein_names_refseq": "interferon alpha-5 precursor; interferon alpha-61; interferon alpha-G", "tax_id": 9606, "disease": "", "pathway": " (hsa:3442); (R-HSA-909733); (R-HSA-912694); (R-HSA-933541); (R-HSA-9705671); (R-HSA-983231); (R-HSA-9833109)", "pathway_count": 7, "publication_count": 186, "publication_id_list": "10022928;10395669;10421793;10542297;10581243;10982844;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;15340161;15361868;15449939;15710388;15778442;16009940;16054028;16125763;16127453;16153868;16171819;1630448;16710296;16914100;16987978;17027967;17196961;17251292;1730654;17327220;17351669;17392790;17703412;17969444;18035202;18508557;18575461;18953482;19000144;19193793;19293402;19479062;19668221;20043992;20130243;20363976;20530532;20627800;20643137;21632562;218813;2211721;22383950;22619329;22941947;23061660;23121362;23453971;24417533;24722368;25371710;26845023;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;4057246;6162102;6163083;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8662638;8702790;8816476;8943354;9065479;9096384;9121453;9230307;9242679;9326583;9331217;9334213;9422515;9660177;9660935;9822609;9847332;9861020;9927674", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase., [UniProtKB]; This is the first report of positive association of IFNA gene in SLE, especially the role of specific subtypes IFNA1 and IFNA5. GeneRIF: Observational study of gene-gene 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": 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": "Q52LX3", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding;GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002312 B cell activation involved in immune response;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0002250 adaptive immune response;GO:0043330 response to exogenous dsRNA", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "P01569-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01570-1", "uniprot_id": "IFN14_HUMAN", "mass": 22063.0, "length": 189, "protein_name": "Interferon alpha-14", "gene_name": "IFNA14", "organism": "Human", "refseq_name": "interferon alpha-14 precursor", "refseq_ac": "NP_002163", "gene_names_uniprotkb": "IFNA14", "gene_names_refseq": "IFN-alphaH; IFNA14; LEIF2H", "protein_names_uniprotkb": "Interferon alpha-14; IFN-alpha-14; Interferon alpha-H; Interferon lambda-2-H; LeIF H", "protein_names_refseq": "IFN-alpha-14; interferon alpha-14 precursor; interferon alpha-H; interferon lambda-2-H; leIF H", "tax_id": 9606, "disease": "", "pathway": " (hsa:3448); (R-HSA-909733); (R-HSA-912694); (R-HSA-933541); (R-HSA-9705671); (R-HSA-983231); (R-HSA-9833109)", "pathway_count": 7, "publication_count": 194, "publication_id_list": "10022928;10395669;10421793;10542297;10581243;10982844;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;18508557;18575461;19193793;19293402;19479062;19668221;20043992;20130243;20363976;20530532;20588308;20627800;20643137;21632562;218813;2211721;22383950;22619329;22941947;23061660;23121362;23453971;24417533;24722368;25371710;26845023;27729616;28904123;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;34932366;35051231;35102342;35643212;37051252;38097874;4057246;6162102;6163083;6165082;6548414;688397;7510216;7526154;7537377;7540766;7765487;8197134;8232552;8605876;8621447;8662638;8702790;8816476;8910771;8943354;9065479;9096384;9121453;9230307;9242679;9326583;9331217;9334213;9422515;9425112;9654101;9660177;9660935;9822609;9847332;9861020;9927674", "class_list": "", "function": "FISH analysis reveals CDKN2A and IFNA14 co-deletion is heterogeneous and is a prominent feature of glioblastoma., [RefSeq, PubMed]; Gene therapy with plasmids encoding IFN-beta and -alpha14, but not the commonly used -alpha2, confers long-term suppression of HIV-1 replication., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5VZ56;Q7M4S1", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding;GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002312 B cell activation involved in immune response;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0002250 adaptive immune response;GO:0043330 response to exogenous dsRNA", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "P01570-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01579-1", "uniprot_id": "IFNG_HUMAN", "mass": 19348.0, "length": 166, "protein_name": "Interferon gamma", "gene_name": "IFNG", "organism": "Human", "refseq_name": "interferon gamma precursor", "refseq_ac": "NP_000610", "gene_names_uniprotkb": "IFNG", "gene_names_refseq": "IFG; IFI; IFNG; IMD69", "protein_names_uniprotkb": "Interferon gamma; IFN-gamma; Immune interferon", "protein_names_refseq": "IFN-gamma; immune interferon; interferon gamma precursor", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); renal fibrosis (Disease Ontology:DOID:0050855); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); medulloblastoma (Disease Ontology:DOID:0050902); stroke (Disease Ontology:DOID:0051061); chronic pancreatitis (Disease Ontology:DOID:0051065); lupus nephritis (Disease Ontology:DOID:0080162); tuberous sclerosis 2 (Disease Ontology:DOID:0080325); COVID-19 (Disease Ontology:DOID:0080600); polymyositis (Disease Ontology:DOID:0080745); Graves ophthalmopathy (Disease Ontology:DOID:0081120); graft-versus-host disease (Disease Ontology:DOID:0081267); immunodeficiency 69 (Disease Ontology:DOID:0112006); sensorineural hearing loss (Disease Ontology:DOID:10003); dermatomyositis (Disease Ontology:DOID:10223); celiac disease (Disease Ontology:DOID:10608); otitis media (Disease Ontology:DOID:10754); nephritis (Disease Ontology:DOID:10952); urinary bladder cancer (Disease Ontology:DOID:11054); brucellosis (Disease Ontology:DOID:11077); pulpitis (Disease Ontology:DOID:11121); allergic conjunctivitis (Disease Ontology:DOID:11204); Hantavirus hemorrhagic fever with renal syndrome (Disease Ontology:DOID:11266); suppurative otitis media (Disease Ontology:DOID:11506); panuveitis (Disease Ontology:DOID:12030); factor VIII deficiency (Disease Ontology:DOID:12134); Chagas disease (Disease Ontology:DOID:12140); primary biliary cholangitis (Disease Ontology:DOID:12236); Vogt-Koyanagi-Harada disease (Disease Ontology:DOID:12297); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); malaria (Disease Ontology:DOID:12365); aplastic anemia (Disease Ontology:DOID:12449); ataxia telangiectasia (Disease Ontology:DOID:12704); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); Sjogren's syndrome (Disease Ontology:DOID:12894); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); Fanconi anemia (Disease Ontology:DOID:13636); toxic shock syndrome (Disease Ontology:DOID:14115); selective IgG deficiency disease (Disease Ontology:DOID:14176); hypothyroidism (Disease Ontology:DOID:1459); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); hepatitis C (Disease Ontology:DOID:1883); viral hepatitis (Disease Ontology:DOID:1884); hepatitis (Disease Ontology:DOID:2237); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); glucosephosphate dehydrogenase deficiency (Disease Ontology:DOID:2862); endometriosis (Disease Ontology:DOID:289); glomerulonephritis (Disease Ontology:DOID:2921); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); high grade glioma (Disease Ontology:DOID:3070); chronic granulomatous disease (Disease Ontology:DOID:3265); atopic dermatitis (Disease Ontology:DOID:3310); mixed connective tissue disease (Disease Ontology:DOID:3492); acute retinal necrosis syndrome (Disease Ontology:DOID:3611); tuberculosis (Disease Ontology:DOID:399); systemic scleroderma (Disease Ontology:DOID:418); allergic rhinitis (Disease Ontology:DOID:4481); endophthalmitis (Disease Ontology:DOID:4692); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acute disseminated encephalomyelitis (Disease Ontology:DOID:639); rheumatoid arthritis (Disease Ontology:DOID:7148); autoimmune thyroiditis (Disease Ontology:DOID:7188); abdominal aortic aneurysm (Disease Ontology:DOID:7693); lung disease (Disease Ontology:DOID:850); myeloid leukemia (Disease Ontology:DOID:8692); Crohn's disease (Disease Ontology:DOID:8778); leishmaniasis (Disease Ontology:DOID:9065); systemic lupus erythematosus (Disease Ontology:DOID:9074); eczema herpeticum (Disease Ontology:DOID:9123); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408); vesicoureteral reflux (Disease Ontology:DOID:9620); diabetic neuropathy (Disease Ontology:DOID:9743); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3458); (R-HSA-877300); (R-HSA-877312); (R-HSA-8877330); (R-HSA-8950505); (R-HSA-9732724); (R-HSA-9942503)", "pathway_count": 7, "publication_count": 98, "publication_id_list": "10064597;10067896;10421843;10533284;10764830;10805787;10860730;10986460;11112687;11469797;11972023;12040185;12220513;12438563;12446674;12855578;12915721;1396683;14586410;14722222;1508672;15143187;1525157;15296648;15322115;15327519;15388922;15530433;16038020;16237089;16467876;16873067;16914093;1706709;17125875;17377532;18031232;18362138;18591661;1902591;19054851;19800266;20049711;20130243;20304997;20363976;23061660;2427621;24417533;2504704;27525523;2860101;28832583;29242379;29557506;3109913;31428522;31986264;32163377;32350084;32576222;32983136;33239784;34185709;34531288;35051231;39277179;39312196;39366761;6173769;6176945;6180322;6329718;6427223;7510216;7514165;7530745;7615558;7617032;7654188;7657660;7673114;7690989;7729559;7796299;8156998;8163024;8176225;8349687;8483949;8530158;8550631;8631301;8666937;9111318;9143706;9446616;9643557", "class_list": "glycogene", "function": "Cholesterol promotes IFNG mRNA expression in CD4[+] effector/memory cells by SGK1 activation. Publication Status: Online-Only, [RefSeq, PubMed]; IFN-gamma induces acute graft-versus-host disease by promoting HMGB1-mediated nuclear-to-cytoplasm translocation and autophagic degradation of p53., [RefSeq, PubMed]; Recurrent ocular toxoplasmosis is associated with interferon-gamma deficiency possibly due to genetic origin. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]., [RefSeq]; Type II interferon produced by immune cells such as T-cells and NK cells that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (PubMed:16914093, PubMed:8666937). Primarily signals through the JAK-STAT pathway after interaction with its receptor IFNGR1 to affect gene regulation (PubMed:8349687). Upon IFNG binding, IFNGR1 intracellular domain opens out to allow association of downstream signaling components JAK2, JAK1 and STAT1, leading to STAT1 activation, nuclear translocation and transcription of IFNG-regulated genes. Many of the induced genes are transcription factors such as IRF1 that are able to further drive regulation of a next wave of transcription (PubMed:16914093). Plays a role in class I antigen presentation pathway by inducing a replacement of catalytic proteasome subunits with immunoproteasome subunits (PubMed:8666937). In turn, increases the quantity, quality, and repertoire of peptides for class I MHC loading (PubMed:8163024). Increases the efficiency of peptide generation also by inducing the expression of activator PA28 that associates with the proteasome and alters its proteolytic cleavage preference (PubMed:11112687). Up-regulates as well MHC II complexes on the cell surface by promoting expression of several key molecules such as cathepsins B/CTSB, H/CTSH, and L/CTSL (PubMed:7729559). Participates in the regulation of hematopoietic stem cells during development and under homeostatic conditions by affecting their development, quiescence, and differentiation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": 20, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 302, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; diagnostic; prognostic", "glycan_count": 41, "disease_count": 84, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B5BU88;Q53ZV4", "ec_number_list": "", "go_molecular_function": "GO:0005133 type II interferon receptor binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0032834 positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response;GO:0060552 positive regulation of fructose 1,6-bisphosphate metabolic process;GO:0060557 positive regulation of vitamin D biosynthetic process;GO:0032747 positive regulation of interleukin-23 production;GO:0032700 negative regulation of interleukin-17 production", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "P01579-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05000-1", "uniprot_id": "IFNW1_HUMAN", "mass": 22319.0, "length": 195, "protein_name": "Interferon omega-1", "gene_name": "IFNW1", "organism": "Human", "refseq_name": "interferon omega-1 precursor", "refseq_ac": "NP_002168", "gene_names_uniprotkb": "IFNW1", "gene_names_refseq": "IFNW1", "protein_names_uniprotkb": "Interferon omega-1; Interferon alpha-II-1", "protein_names_refseq": "IFN-omega 1, interferon omega-1; interferon alpha-II-1; interferon omega-1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:3467)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "15340161;1647209;1693148;21854986;22192711;28957693;2985969;3895159;7765487;8142025;8223648", "class_list": "", "function": "A review on current status in clinical applications of interferon-omega Review article, [RefSeq, PubMed]; Studies indicate that upregulation of the type I interferon protein signature has added additional markers of disease activity and insight into the pathogenesis of the disease. Review article, [RefSeq, PubMed]; The protein encoded by this gene is an interferon and possesses antiviral activity. The encoded protein binds to the interferon alpha/beta receptor but not to the interferon gamma receptor. This intronless gene has several pseudogenes spread throughout the genome. [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": 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": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q13168;Q5U802;Q5VWD0;Q7M4P5", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding;GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0002312 B cell activation involved in immune response;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0009615 response to virus;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P05000-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08887-1", "uniprot_id": "IL6RA_HUMAN", "mass": 51548.0, "length": 468, "protein_name": "Interleukin-6 receptor subunit alpha", "gene_name": "IL6R", "organism": "Human", "refseq_name": "interleukin-6 receptor subunit alpha isoform 1 precursor", "refseq_ac": "NP_000556", "gene_names_uniprotkb": "IL6R", "gene_names_refseq": "CD126; HIES5; IL-1Ra; IL-6R-1; IL-6RA; IL-6R; IL6QTL; IL6Q; IL6RA; IL6RQ; IL6R; gp80", "protein_names_uniprotkb": "Interleukin-6 receptor subunit alpha; IL-6 receptor subunit alpha; IL-6R 1; IL-6R subunit alpha; IL-6R-alpha; IL-6RA; Membrane glycoprotein 80; gp80", "protein_names_refseq": "CD126 antigen; IL-6 receptor subunit alpha; interleukin-6 receptor subunit alpha isoform 1 precursor; membrane glycoprotein 80", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); sleep apnea (Disease Ontology:DOID:0050847); hyper IgE syndrome (Disease Ontology:DOID:0080545); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); Graves' disease (Disease Ontology:DOID:12361); Huntington's disease (Disease Ontology:DOID:12858); uveitis (Disease Ontology:DOID:13141); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); depressive disorder (Disease Ontology:DOID:1596); orchitis (Disease Ontology:DOID:2518); pulmonary tuberculosis (Disease Ontology:DOID:2957); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); obesity (Disease Ontology:DOID:9970); hyper-IgE recurrent infection syndrome 5, autosomal recessive (MONDO:MONDO:0030069)", "pathway": " (hsa:3570); (R-HSA-1059683); (R-HSA-110056); (R-HSA-112411); (R-HSA-6785807); (R-HSA-9616222); (R-HSA-9679191); (R-HSA-9958825)", "pathway_count": 8, "publication_count": 215, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10023775;10066782;10087012;10219247;10233885;10330422;10369418;10510379;10586089;10777583;10851062;10867011;11017875;11058569;11084045;11104795;11120780;11121117;11237011;11242107;11278437;11278729;11340171;11356008;11369759;11404481;11463377;11564866;11684017;11867521;11960372;12223527;12242300;12242343;12461182;12483717;12586835;12600988;12702500;12794819;12829785;12832402;12869508;14517214;14634100;14712222;15116091;15261459;15584925;15805299;15869882;15950906;16007214;16048438;16107692;16115318;16205632;16236134;16270750;16397018;16451196;16510571;16522641;16540365;16606674;16751774;16868551;17063141;17357077;17427945;17458857;17562868;17572495;17662961;17675186;18243101;18353781;18447642;18519587;18555777;18644974;1872801;18776924;19124156;19185846;19219045;19397496;20223979;20493732;20661648;21102457;21252155;21471526;21689689;21730069;2183031;21937440;21990364;21993314;21994466;22036506;22046235;22117219;22205702;22371011;22383755;22401777;22474248;22552008;2261637;22693070;22814904;22851691;23001182;23086340;23090970;23124025;23172665;23455323;23481700;23555662;23584533;23641311;23967200;2405250;24097101;24190977;24272870;24379003;24584101;24584857;24743777;25234944;2524830;2529343;25784653;25801024;26002965;26876177;26992070;2721961;2788034;28060820;28265003;28317937;28411811;28425720;29431622;29632046;29945920;30201761;30459171;30995492;31048504;31217245;31235509;3136546;31582665;32157095;32306778;32350084;32387766;33141586;33314148;33392160;33691108;34215617;34357683;35251023;38253038;39216780;7510216;7512451;7529288;7701321;7795521;7796300;7812050;7862113;7871433;7898939;7907877;8056053;8085155;8131746;8134389;8140422;8234276;8272873;8388392;8467812;8602263;8621622;8626374;8662591;8662795;8663118;8668165;8695841;8797861;8816495;8846917;9013879;9177240;9285712;9382798;9630226;9651359;9723655;9736340;9794795;9822675;9874564", "class_list": "", "function": "A structural model, derived from 3.65 A resolution crystallographic data of the complex between IL-6, the extracellular binding domains of IL-6R, and the extracellular activation and binding domains of gp130 is presented Erratum:[Science. 2003 Aug 15;301(5635):918], [RefSeq, PubMed]; IL-6R (trans-signaling) is a key regulator of reverse cholesterol transport in lipid-laden macrophages., [RefSeq, PubMed]; Part of the receptor for interleukin 6. Binds to IL6 with low affinity, but does not transduce a signal (PubMed:28265003). Signal activation necessitate an association with IL6ST. Activation leads to the regulation of the immune response, acute-phase reactions and hematopoiesis (PubMed:30995492, PubMed:31235509). The interaction with membrane-bound IL6R and IL6ST stimulates 'classic signaling', the restricted expression of the IL6R limits classic IL6 signaling to only a few tissues such as the liver and some cells of the immune system. Whereas the binding of IL6 and soluble IL6R to IL6ST stimulates 'trans-signaling'. Alternatively, 'cluster signaling' occurs when membrane-bound IL6:IL6R complexes on transmitter cells activate IL6ST receptors on neighboring receiver cells (Probable)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Signaling via the membrane-bound IL6R is mostly regenerative and anti-inflammatory (Probable). Drives naive CD4(+) T cells to the Th17 lineage, through 'cluster signaling' by dendritic cells (By similarity)., [UniProtKB, PubMed, UniProtKB]; Signaling via the membrane-bound IL6R is mostly regenerative and anti-inflammatory. Drives naive CD4(+) T cells to the Th17 lineage, through 'cluster signaling' by dendritic cells., [UniProtKB, UniProtKB, UniProtKB]; Soluble form of IL6 receptor (sIL6R) that acts as an agonist of IL6 activity (PubMed:21990364). The IL6:sIL6R complex (hyper-IL6) binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL6R in a process called IL6 'trans-signaling'. sIL6R is causative for the pro-inflammatory properties of IL6 and an important player in the development of chronic inflammatory diseases (PubMed:21990364). In complex with IL6, is required for induction of VEGF production (PubMed:12794819). Plays a protective role during liver injury, being required for maintenance of tissue regeneration (By similarity). 'Trans-signaling' in central nervous system regulates energy and glucose homeostasis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Soluble form of IL6 receptor (sIL6R) that acts as an agonist of IL6 activity. The IL6:sIL6R complex (hyper-IL6) binds to IL6ST/gp130 on cell surfaces and induces signaling also on cells that do not express membrane-bound IL6R in a process called IL6 'trans-signaling'. sIL6R is causative for the pro-inflammatory properties of IL6 and an important player in the development of chronic inflammatory diseases. In complex with IL6, is required for induction of VEGF production. Plays a protective role during liver injury, being required for maintenance of tissue regeneration. 'Trans-signaling' in central nervous system regulates energy and glucose homeostasis., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been identified in this gene. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Aug 2020]., [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": 5, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 37, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "predictive", "glycan_count": 6, "disease_count": 19, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A8KAE8;B2R6V4;Q16202;Q53EQ7;Q5FWG2;Q5VZ23", "ec_number_list": "", "go_molecular_function": "GO:0004915 interleukin-6 receptor activity;GO:0004921 interleukin-11 receptor activity;GO:0019970 interleukin-11 binding;GO:0019981 interleukin-6 binding;GO:0070119 ciliary neurotrophic factor binding", "go_cellular_component": "GO:0070110 ciliary neurotrophic factor receptor complex;GO:0005896 interleukin-6 receptor complex;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0072126 positive regulation of glomerular mesangial cell proliferation;GO:0070120 ciliary neurotrophic factor-mediated signaling pathway;GO:0002384 hepatic immune response;GO:0008284 positive regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 23.2, "record_id": "P08887-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09914-1", "uniprot_id": "IFIT1_HUMAN", "mass": 55360.0, "length": 478, "protein_name": "Antiviral innate immune response effector IFIT1", "gene_name": "IFIT1", "organism": "Human", "refseq_name": "antiviral innate immune response effector IFIT1 isoform 3", "refseq_ac": "NP_001257857", "gene_names_uniprotkb": "IFIT1; G10P1; IFI56; IFNAI1; ISG56", "gene_names_refseq": "C56; G10P1; IFI-56K; IFI-56; IFI56; IFIT-1; IFIT1; IFNAI1; ISG56; P56; RNM561", "protein_names_uniprotkb": "Antiviral innate immune response effector IFIT1; IFI-56K; IFIT-1; Interferon-induced 56 kDa protein; Interferon-induced protein with tetratricopeptide repeats 1; P56", "protein_names_refseq": "antiviral innate immune response effector IFIT1 isoform 3; antiviral innate immune response effector IFIT1; interferon, alpha-inducible protein (MW 56kD); interferon-induced 56 kDa protein; interferon-inducible mRNA 561", "tax_id": 9606, "disease": "", "pathway": " (hsa:3434); (R-HSA-1169408); (R-HSA-909733)", "pathway_count": 3, "publication_count": 167, "publication_id_list": "10395669;10542297;10982844;11092454;11095724;11112487;11157743;11337497;11377645;11404376;11585831;11788588;12029096;12525615;12582176;12766484;12842042;14769151;15047845;15131269;15312780;15449939;15485925;15702989;15778442;16009940;16023166;16112642;16122702;16139798;16171819;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;16987978;17251292;17289916;1730654;17351669;17376915;17969444;18035202;18287095;18305167;18575461;18583345;19008854;19073728;19125153;19270716;19416887;20068231;20130243;20133869;20219937;20308324;20363976;20385878;20643137;21190939;21612406;21642987;21976647;2211721;22424782;23061660;23121362;23334420;23481700;24417533;25371710;25576301;25645385;25880248;25892735;26992070;27600516;27846572;27862975;27920218;28228285;28251928;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29769354;29786170;29789417;30429286;30484775;30485383;30833945;3121313;31844290;32032529;32113509;32157095;32350084;32357974;32387766;32488085;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33117408;33189161;33193462;33396578;33592498;3360121;33717175;33912179;33968037;34087483;34171305;34185709;34211107;34357683;34509645;35051231;35318648;35580925;36010968;36241641;36284347;36285486;3753936;37938771;38881847;39009378;6162102;6186990;6548414;688397;7510216;7526154;7537377;7540766;7559393;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9242679;9334213;9525617;9660177;9847332;9861020", "class_list": "", "function": "Plays a key role in the innate immune response as part of an interferon-dependent multiprotein complex, recognizing and sequestering viral RNAs that lack host-specific 2'-O-methylation at their 5' cap. By distinguishing these RNAs from host mRNAs, inhibits their translation by competing with the translation initiation factor eIF4E (PubMed:21642987, PubMed:27240734, PubMed:39009378, PubMed:23334420, PubMed:28251928, PubMed:36285486). Could also prevent viral replication through its interaction with DNA replication origin-binding protein E1 of several viruses. Causes the translocation of E1 from the nucleus to the cytoplasm and can also inhibit its helicase activity in vitro (PubMed:19008854, PubMed:21976647). Exhibits antiviral activity against many viruses from the Flaviviridae (West Nile virus, Dengue virus, hepatitis C virus), Coronaviridae (human 229E coronavirus, SARS-CoV-2 and SARS-CoV), Poxviridae (vaccinia virus) and Togaviridae (Sindbis virus) families (PubMed:19008854, PubMed:21976647, PubMed:28251928, PubMed:36285486)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TLR3 signaling-induced interferon-stimulated gene 56 plays a role in the pathogenesis of rheumatoid arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein containing tetratricopeptide repeats that was originally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This gene is located in a cluster on chromosome 10 with five other closely related genes. There is a pseudogene for this gene on chromosome 13. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 20, "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": "B3KS50;D3DR31;Q5T7J1;Q96QM5", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0004857 enzyme inhibitor activity;GO:0140610 RNA sequestering activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0043657 host cell", "go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:0071357 cellular response to type I interferon;GO:0019060 intracellular transport of viral protein in host cell;GO:0045071 negative regulation of viral genome replication;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "P09914-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DOY2-1", "uniprot_id": "IGLC2_HUMAN", "mass": 11294.0, "length": 106, "protein_name": "Immunoglobulin lambda constant 2", "gene_name": "IGLC2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGLC2", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda constant 2; Ig lambda chain C region Kern; Ig lambda chain C region NIG-64; Ig lambda chain C region SH; Ig lambda chain C region X; Ig lambda-2 chain C region", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 541, "publication_id_list": 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"class_list": "immunoglobin", "function": "Constant region of immunoglobulin light chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A075B6K9;A0M8Q4;P0CG05;P0CG06;P80423", "ec_number_list": "", "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 54.2, "record_id": "P0DOY2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P14652-1", "uniprot_id": "HXB2_HUMAN", "mass": 37914.0, "length": 356, "protein_name": "Homeobox protein Hox-B2", "gene_name": "HOXB2", "organism": "Human", "refseq_name": "homeobox protein Hox-B2", "refseq_ac": "NP_002136", "gene_names_uniprotkb": "HOXB2; HOX2H", "gene_names_refseq": "HOX2H; HOX2; HOXB2; Hox-2.8; K8", "protein_names_uniprotkb": "Homeobox protein Hox-B2; Homeobox protein Hox-2.8; Homeobox protein Hox-2H; K8", "protein_names_refseq": "K8 home protein; homeo box 2H; homeo box B2; homeobox protein Hox-2.8; homeobox protein Hox-2H; homeobox protein Hox-B2", "tax_id": 9606, "disease": "", "pathway": " (hsa:3212); (R-HSA-5617472)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10595394;10777502;15867264;16079151;16549775;17185360;17287340;17428788;1756725;17660710;17713478;17761849;17851529;18781158;19007248;19115252;19232136;19747919;1975088;19782034;19854132;20085832;22569366;22705304;22879880;23186163;23219899;23534758;23630040;24174538;24312487;24586203;24715725;25101834;25135475;2570724;2574852;2576652;25913784;2901346;31844290;32938616;35051231;35320486;38322121;38617001;38851728;7488013;7501971;7831296;7876223;7906964;7908827;8674428;8759021;9218805;9272954;9482740", "class_list": "", "function": "HOXB2 promotes cisplatin resistance by upregulating lncRNA DANCR in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; High expression of homeobox B2 predicts poor survival of colon adenocarcinoma by enhancing tumor proliferation and invasion., [RefSeq, PubMed]; Homeobox B2 promotes malignant behavior and contributes to the radioresistance of nasopharyngeal carcinoma by regulating forkhead box protein O1. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis., [UniProtKB, PubMed]; The homeoprotein HOXB2 limits triple-negative breast carcinogenesis via extracellular matrix remodeling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P10913;P17485", "ec_number_list": "", "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P14652-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15248-1", "uniprot_id": "IL9_HUMAN", "mass": 15909.0, "length": 144, "protein_name": "Interleukin-9", "gene_name": "IL9", "organism": "Human", "refseq_name": "interleukin-9 precursor", "refseq_ac": "NP_000581", "gene_names_uniprotkb": "IL9", "gene_names_refseq": "HP40; IL-9; IL9; P40", "protein_names_uniprotkb": "Interleukin-9; Cytokine P40; IL-9; T-cell growth factor P40", "protein_names_refseq": "T-cell growth factor p40; cytokine P40; homolog of mouse T cell and mast cell growth factor 40; interleukin-9 precursor; p40 T-cell and mast cell growth factor; p40 cytokine", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); adult respiratory distress syndrome (Disease Ontology:DOID:11394); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); rhinitis (Disease Ontology:DOID:4483)", "pathway": " (hsa:3578); (R-HSA-8985947)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10562299;10919676;11306517;1376929;18250158;18591661;1901233;1971295;20169197;2129501;21439476;2508790;25297818;29557506;29742432;34357683;38605942;38643817;38825637;38941612;39201262;7718508;7775604;8022485;8756628;9535918", "class_list": "", "function": "Heterogeneous IL-9 Production by Circulating Skin-Tropic and Extracutaneous Memory T Cells in Atopic Dermatitis Patients. Publication Status: Online-Only, [RefSeq, PubMed]; IL-9 secreted by leukemia stem cells induces Th1-skewed CD4+ T cells, which promote their expansion., [RefSeq, PubMed]; Increased interleukin-9 and Th9 cells in patients with refractory Graves' disease and interleukin-9 polymorphisms are associated with autoimmune thyroid diseases. Publication Status: Online-Only, [RefSeq, PubMed]; Locus of (IL-9) control: IL9 epigenetic regulation in cellular function and human disease. Review article, [RefSeq, PubMed]; Multifunctional cytokine secreted mainly by T-helper 2 lymphocytes and also mast cells or NKT cells that plays important roles in the immune response against parasites (PubMed:29742432). Affects intestinal epithelial permeability and adaptive immunity (PubMed:29742432). In addition, induces the differentiation of specific T-cell subsets such as IL-17 producing helper T-cells (TH17) and also proliferation and differentiation of mast cells. Mechanistically, exerts its biological effects through a receptor composed of IL9R subunit and a signal transducing subunit IL2RG. Receptor stimulation results in the rapid activation of JAK1 and JAK3 kinase activities leading to STAT1, STAT3 and STAT5-mediated transcriptional programs. Induction of differentiation genes seems to be mediated by STAT1 alone, while protection of cells from apoptosis depends on STAT3 and STAT5., [UniProtKB, UniProtKB, PubMed]; Serum levels of IL-9 and IL-11 serve as predictors for the occurrence of early neurologic deterioration in patients with cerebral infarction., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005140 interleukin-9 receptor binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0032754 positive regulation of interleukin-5 production;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0008284 positive regulation of cell population proliferation;GO:0030307 positive regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P15248-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28356-1", "uniprot_id": "HXD9_HUMAN", "mass": 36495.0, "length": 352, "protein_name": "Homeobox protein Hox-D9", "gene_name": "HOXD9", "organism": "Human", "refseq_name": "homeobox protein Hox-D9", "refseq_ac": "NP_055028", "gene_names_uniprotkb": "HOXD9; HOX4C", "gene_names_refseq": "HOX4C; HOX4; HOXD9; Hox-4.3; Hox-5.2", "protein_names_uniprotkb": "Homeobox protein Hox-D9; Homeobox protein Hox-4C; Homeobox protein Hox-5.2", "protein_names_refseq": "Hox-4.3, mouse, homolog of; homeo box D9; homeobox protein Hox-4C; homeobox protein Hox-5.2; homeobox protein Hox-D9", "tax_id": 9606, "disease": "", "pathway": " (hsa:3235)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11857506;1756725;18669648;23186163;25645385;2568311;2574852;29237092;30379171;30620550;32938616;34846842;35051231;35254053;36907878;37004946;37603105;37974228;38197534", "class_list": "", "function": "BST2 promotes gastric cancer metastasis under the regulation of HOXD9 and PABPC1., [RefSeq, PubMed]; HOXD9 contributes to the Warburg effect and tumor metastasis in non-small cell lung cancer via transcriptional activation of PFKFB3., [RefSeq, PubMed]; HOXD9 is a potential prognostic biomarker involved in immune microenvironment of glioma., [RefSeq, PubMed]; HOXD9/miR-451a/PSMB8 axis is implicated in the regulation of cell proliferation and metastasis via PI3K/AKT signaling pathway in human anaplastic thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Homeobox D9 drives the malignant phenotypes and enhances the Programmed death ligand-1 expression in non-small cell lung cancer cells via binding to Angiopoietin-2 promoter. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis., [UniProtKB]; This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene 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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "Q86ST1", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO: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: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:0009952 anterior/posterior pattern specification;GO:0009954 proximal/distal pattern formation", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P28356-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P30740-1", "uniprot_id": "ILEU_HUMAN", "mass": 42742.0, "length": 379, "protein_name": "Leukocyte elastase inhibitor", "gene_name": "SERPINB1", "organism": "Human", "refseq_name": "leukocyte elastase inhibitor", "refseq_ac": "NP_109591", "gene_names_uniprotkb": "SERPINB1; ELANH2; MNEI; PI2", "gene_names_refseq": "EI; ELANH2; HEL-S-27; HEL57; LEI; M/NEI; MNEI; PI-2; PI2; SERPINB1", "protein_names_uniprotkb": "Leukocyte elastase inhibitor; EI; LEI; M/NEI; Monocyte/neutrophil elastase inhibitor; PI-2; Peptidase inhibitor 2; Serpin B1", "protein_names_refseq": "epididymis luminal protein 57; epididymis secretory protein Li 27; leukocyte elastase inhibitor; peptidase inhibitor 2; protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived; serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1; serpin peptidase inhibitor, clade B (ovalbumin), member 1", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372); glycogen storage disease (Disease Ontology:DOID:2747)", "pathway": " (hsa:1992); (R-HSA-6798695); (R-HSA-9948001)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10.1101/2023.09.13.557529;11747453;12665801;1286667;1376927;17924679;19608861;21248149;23186163;23269243;23650620;24714562;24715725;25119034;25576301;26701651;27655845;27726376;27862975;28832583;29177860;29242379;29314611;29331515;29393594;29557506;29632711;29786170;29789417;30429286;30692621;30833945;31154438;31611695;31844290;31848261;32109412;32157095;32350084;32581219;32897882;32903749;32938616;32983136;33214551;33592498;33936100;33968037;34019948;34171305;34916628;34932366;35051231;35154160;35251023;35291946;35580925;36284347;36730076;37558421;40914422;7578269;8692836;9630619", "class_list": "", "function": "A Novel SERPINB1 Single-Nucleotide Polymorphism Associated With Glycemic Control and beta-Cell Function in Egyptian Type 2 Diabetic Patients. Publication Status: Online-Only, [RefSeq, PubMed]; A proteomic analysis of NETosis in trauma: Emergence of serpinB1 as a key player., [RefSeq, PubMed]; Neutrophil serine protease inhibitor that plays an essential role in the regulation of the innate immune response, inflammation and cellular homeostasis (PubMed:30692621). Acts primarily to protect the cell from proteases released in the cytoplasm during stress or infection. These proteases are important in killing microbes but when released from granules, these potent enzymes also destroy host proteins and contribute to mortality. Regulates the activity of the neutrophil proteases elastase, cathepsin G, proteinase-3, chymase, chymotrypsin, and kallikrein-3 (PubMed:11747453, PubMed:30692621). Also acts as a potent intracellular inhibitor of GZMH by directly blocking its proteolytic activity (PubMed:23269243). During inflammation, limits the activity of inflammatory caspases CASP1, CASP4 and CASP5 by suppressing their caspase-recruitment domain (CARD) oligomerization and enzymatic activation (PubMed:30692621). When secreted, promotes the proliferation of beta-cells via its protease inhibitory function (PubMed:26701651)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; SERPINB1 overexpression protects myocardial damage induced by acute myocardial infarction through AMPK/mTOR pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K5L2;B4DNT0;Q53FB9;Q5W0E1;Q9UDF8", "ec_number_list": "", "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0030414 peptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0030336 negative regulation of cell migration;GO:0032691 negative regulation of interleukin-1 beta production;GO:0010951 negative regulation of endopeptidase activity;GO:0044342 type B pancreatic cell proliferation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P30740-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31274-1", "uniprot_id": "HXC9_HUMAN", "mass": 29248.0, "length": 260, "protein_name": "Homeobox protein Hox-C9", "gene_name": "HOXC9", "organism": "Human", "refseq_name": "homeobox protein Hox-C9", "refseq_ac": "NP_008828", "gene_names_uniprotkb": "HOXC9; HOX3B", "gene_names_refseq": "HOX3B; HOX3; HOXC9", "protein_names_uniprotkb": "Homeobox protein Hox-C9; Homeobox protein Hox-3B", "protein_names_refseq": "homeo box C9; homeobox protein Hox-3B; homeobox protein Hox-C9", "tax_id": 9606, "disease": "", "pathway": " (hsa:3225)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11857506;16959974;22615398;23186163;2576652;30418433;30833945;32574038;32816159;34159686;34171305;35289036;35513511;36010968;36272177;38446596;39302247;39531497;39534244;40596516", "class_list": "", "function": "CircRNA-mediated upregulation of HOXC9 is correlated with poor outcome and immune microenvironment infiltrates in LUAD., [RefSeq, PubMed]; HOXC9 characterizes a suppressive tumor immune microenvironment and integration with multiple immune biomarkers predicts response to PD-1 blockade plus chemotherapy in lung adenocarcinoma., [RefSeq, PubMed]; HOXC9 overexpression is associated with gastric cancer progression and a prognostic marker for poor survival in gastric cancer patients., [RefSeq, PubMed]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis., [UniProtKB]; This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of HOXC9 generates interferon-gamma resistance in gastric cancer by inhibiting the DAPK1/RIG1/STAT1 axis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "B2RCN7;Q9H1I0", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0009952 anterior/posterior pattern specification;GO:0009954 proximal/distal pattern formation;GO:0048704 embryonic skeletal system morphogenesis", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P31274-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31785-1", "uniprot_id": "IL2RG_HUMAN", "mass": 42287.0, "length": 369, "protein_name": "Cytokine receptor common subunit gamma", "gene_name": "IL2RG", "organism": "Human", "refseq_name": "cytokine receptor common subunit gamma isoform 1 precursor", "refseq_ac": "NP_000197", "gene_names_uniprotkb": "IL2RG", "gene_names_refseq": "CD132; CIDX; IL-2RG; IL2RG; IMD4; P64; SCIDX1; SCIDX", "protein_names_uniprotkb": "Cytokine receptor common subunit gamma; IL-2 receptor subunit gamma; IL-2R subunit gamma; IL-2RG; Interleukin-2 receptor subunit gamma; gammaC; p64", "protein_names_refseq": "CD132 antigen; IL-2 receptor subunit gamma; IL-2R subunit gamma; common cytokine receptor gamma chain; cytokine receptor common subunit gamma isoform 1 precursor; cytokine receptor common subunit gamma; gammaC; interleukin 2 receptor, gamma; nonfunctional common cytokine receptor gamma chain", "tax_id": 9606, "disease": "X-linked severe combined immunodeficiency (Disease Ontology:DOID:0060013); COVID-19 (Disease Ontology:DOID:0080600); severe combined immunodeficiency (Disease Ontology:DOID:627); combined T cell and B cell immunodeficiency (Disease Ontology:DOID:628); combined immunodeficiency, X-linked (MONDO:MONDO:0010730)", "pathway": " (hsa:3561); (R-HSA-1266695); (R-HSA-5673001); (R-HSA-6785807); (R-HSA-8983432); (R-HSA-8985947); (R-HSA-9020558); (R-HSA-9020958); (R-HSA-912526); (R-HSA-9701898)", "pathway_count": 10, "publication_count": 333, "publication_id_list": "10023775;10207047;10219247;10358752;10369418;10455108;10508167;10510379;10562299;10570274;10586089;10794430;10825200;10867011;10869344;10919676;10982827;11016959;11027663;11058569;11084045;11090077;11104795;11120780;11136978;11237011;11278437;11278729;11306517;11313946;11340297;11356008;11404481;11418623;11418668;11463377;11546808;11564764;11702783;11728342;11782012;11960372;12032311;12093291;12094235;12121613;12184921;12200137;12223527;12242343;12244150;12433361;12517932;12600988;12623850;12759422;12832402;12889071;1376929;14506247;14593182;14634100;1465135;14707138;14712222;15116091;15123770;15178252;15261459;1526987;15353558;15356145;1545823;15546878;15584925;15653507;15749844;15805299;15869882;15950906;16007214;16048438;16107692;16205632;16212621;16236134;16293754;1631559;16397018;16451196;16477002;16510571;16540365;16606674;16627759;16684964;1716764;17427945;17458857;17572495;17998941;18243101;18250158;18353781;18447642;18591661;18644974;18775330;1898771;19088198;19124156;19185846;19279408;19397496;19690332;19864382;19901323;19920141;20169197;20478380;20493732;21102457;21102525;21102635;21105711;21252155;21372320;21439476;21689689;21715655;21730069;21779497;21779505;21850230;21937440;21993244;21994466;22046235;22205702;22299025;22383755;22464331;22569528;22589270;22693070;22750304;22851691;23086340;23103841;23124025;23172665;2317865;23303910;23443682;23455323;23481700;23555662;23575685;23719902;23967200;24004669;24097101;24190977;24417533;24714562;24715725;24737791;24743777;24897931;24937142;25115512;25193384;25219551;25234944;25297818;25418920;25502872;25781681;25892735;26085527;26154972;26301565;26375851;26728094;26974155;26992070;27397612;27423467;27543614;27774606;27846572;27879258;27920218;28218747;28228285;28467828;28747913;28778966;28832583;28834231;28871256;28904123;29097600;29139090;29242379;29314611;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30692217;31135801;31154438;31217245;31844290;31918398;31937595;31998317;32350084;32387766;32502341;32897882;32983136;33043033;33141586;33298915;33592498;33633747;33717175;33936100;34078123;34211107;34357683;34433824;34932366;35051231;35154160;35251023;35318648;35494241;36241641;36284347;37932447;38720389;6148751;7489741;7499411;7510216;7512451;7514277;7529123;7529288;7557965;7568001;7600304;7641685;7668284;7718508;7719938;7775604;7795521;7796300;7809086;7860773;7883965;7898939;7907877;7935463;7937790;7972015;7973658;8022485;8027558;8052307;8084588;8085155;8088810;8128231;8266076;8266077;8266078;8294403;8299698;8394845;8401490;8493579;8514792;8530383;8602263;8605324;8621622;8631883;8643566;8648694;8663118;8665852;8668165;8700888;8702919;8709637;8710374;8756628;8797861;8816495;8900089;8939933;9013879;9030599;9049783;9058718;9099679;9108392;9126349;9150740;9233603;9398404;9399950;9512511;9535918;9553136;9604935;9651359;9715265;9723655;9736340;9822675;9874564;9885561;9927426", "class_list": "", "function": "Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; IL-2RG as a possible immunotherapeutic target in CRC predicting poor prognosis and regulated by miR-7-5p and miR-26b-5p. Publication Status: Online-Only, [RefSeq, PubMed]; PD-1 signaling negatively regulates the common cytokine receptor gamma chain via MARCH5-mediated ubiquitination and degradation to suppress anti-tumor immunity., [RefSeq, PubMed]; The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q5FC12", "ec_number_list": "", "go_molecular_function": "GO:0015026 coreceptor activity;GO:0019955 cytokine binding;GO:0004896 cytokine receptor activity;GO:0019976 interleukin-2 binding;GO:0042010 interleukin-15 receptor activity", "go_cellular_component": "GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0035771 interleukin-4-mediated signaling pathway;GO:0038110 interleukin-2-mediated signaling pathway;GO:0006955 immune response;GO:0007165 signal transduction;GO:0019725 cellular homeostasis", "synthesized_glycan_count": 0, "hit_score": 33.8, "record_id": "P31785-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32881-1", "uniprot_id": "IFNA8_HUMAN", "mass": 21989.0, "length": 189, "protein_name": "Interferon alpha-8", "gene_name": "IFNA8", "organism": "Human", "refseq_name": "interferon alpha-8 precursor", "refseq_ac": "NP_002161", "gene_names_uniprotkb": "IFNA8", "gene_names_refseq": "IFN-alphaB; IFNA8", "protein_names_uniprotkb": "Interferon alpha-8; IFN-alpha-8; Interferon alpha-B2; Interferon alpha-B; LeIF B", "protein_names_refseq": "IFN-alpha-8; interferon alpha type 201; interferon alpha-8 precursor; interferon alpha-B'; interferon alpha-B2; leIF B", "tax_id": 9606, "disease": "", "pathway": " (hsa:3445); (R-HSA-909733); (R-HSA-912694); (R-HSA-933541); (R-HSA-9705671); (R-HSA-983231); (R-HSA-9833109)", "pathway_count": 7, "publication_count": 190, "publication_id_list": "10022928;10395669;10421793;10542297;10581243;10982844;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;16710296;16914100;16987978;17027967;17196961;17251292;1730654;17327220;17351669;17392790;17969444;18035202;18508557;18575461;19193793;19293402;19479062;19668221;20043992;20130243;20363976;20530532;20627800;20643137;21632562;218813;2211721;22383950;22570109;22619329;22941947;23061660;23121362;23453971;24030809;24417533;24722368;25063872;25371710;26845023;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;37217939;4057246;6162102;6163083;6164048;6325303;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8662638;8702790;8816476;8836918;8943354;9065479;9096384;9121453;9230307;9242679;9326583;9331217;9334213;9422515;9425112;9660177;9660935;9822609;9847332;9861020;9927674", "class_list": "", "function": "IFN-alpha8 and -alpha10 most potently enhanced expression of IFN-gamma, IL-2, and IL-4., [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]; These data suggest that increased IFN-alpha8 activity may promote the loss of T cells by accelerating cell turnover and activation-induced cell death while decreasing the renewal of T cells by inhibiting the proliferative effect of IL-7., [RefSeq, PubMed]; Variation at IFNA2 -173 and IFNA8 -884 conditions reduced IFN-alpha production, and increased susceptibility to SMA and mortality, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "P01565;P09236;Q5VWV7;Q5VYQ3", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding;GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002312 B cell activation involved in immune response;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0002250 adaptive immune response;GO:0043330 response to exogenous dsRNA", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "P32881-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35452-1", "uniprot_id": "HXD12_HUMAN", "mass": 29031.0, "length": 270, "protein_name": "Homeobox protein Hox-D12", "gene_name": "HOXD12", "organism": "Human", "refseq_name": "homeobox protein Hox-D12", "refseq_ac": "NP_067016", "gene_names_uniprotkb": "HOXD12; HOX4H", "gene_names_refseq": "HOX4H; HOXD12", "protein_names_uniprotkb": "Homeobox protein Hox-D12; Homeobox protein Hox-4H", "protein_names_refseq": "Hox-4.7, mouse, homolog of; homeo box D12; homeobox protein Hox-4H; homeobox protein Hox-D12", "tax_id": 9606, "disease": "clubfoot (Disease Ontology:DOID:11836)", "pathway": " (hsa:3238)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;1675198;19938081;20085705;39259414", "class_list": "", "function": "HOXD12 defines an age-related aggressive subtype of oligodendroglioma. Publication Status: Online-Only, [RefSeq, PubMed]; In human embryonic stem cell (hESCs)differentiation, a 1.8kb region between HOXD11 and HOXD12 (D11.12) that is associated with PcG proteins was discovered, it shows alteration in nuclease sensitivity as hESCs differentiate., [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis., [UniProtKB, UniProtKB, UniProtKB]; This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5MCP0;Q0VAD7;Q0VAD8;Q9NS03", "ec_number_list": "", "go_molecular_function": "GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P35452-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35453-1", "uniprot_id": "HXD13_HUMAN", "mass": 36101.0, "length": 343, "protein_name": "Homeobox protein Hox-D13", "gene_name": "HOXD13", "organism": "Human", "refseq_name": "homeobox protein Hox-D13", "refseq_ac": "NP_000514", "gene_names_uniprotkb": "HOXD13; HOX4I", "gene_names_refseq": "BDE; BDSD; HOX4I; HOXD13; SPD1; SPD", "protein_names_uniprotkb": "Homeobox protein Hox-D13; Homeobox protein Hox-4I", "protein_names_refseq": "homeo box 4I; homeo box D13; homeobox protein Hox-4I; homeobox protein Hox-D13; synpolydactyly", "tax_id": 9606, "disease": "brachydactyly (Disease Ontology:DOID:0050581); brachydactyly-syndactyly syndrome (Disease Ontology:DOID:0050689); synpolydactyly (Disease Ontology:DOID:0060242); brachydactyly type A4 (Disease Ontology:DOID:0110967); brachydactyly type D (Disease Ontology:DOID:0110971); brachydactyly type E1 (Disease Ontology:DOID:0110972); syndactyly type 5 (Disease Ontology:DOID:0111819); hypospadias (Disease Ontology:DOID:10892); cryptorchidism (Disease Ontology:DOID:11383); clubfoot (Disease Ontology:DOID:11836); VACTERL association (Disease Ontology:DOID:14679)", "pathway": " (hsa:3239)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "12414828;12649808;16222680;1675198;17236141;19006232;23301498;23995701;24789103;26581570;31844290;32157095;32350084;33633747;33968037;34019948;35051231;35653119;36195906;36833285;37427568;37541260;37776184;8614804;8817328", "class_list": "", "function": "EWS::FLI1 and HOXD13 Control Tumor Cell Plasticity in Ewing Sarcoma., [RefSeq, PubMed]; Gene Structure and Report of Nine Polyalanine Duplications in Families with Synpolydactyly, Type II, [RefSeq, PubMed]; HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families. Review article, [RefSeq, PubMed]; Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families., [RefSeq, PubMed]; Sequence-specific transcription factor that binds gene promoters and activates their transcription (PubMed:24789103). Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women. 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": 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": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0048619 embryonic hindgut morphogenesis;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "P35453-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60568-1", "uniprot_id": "IL2_HUMAN", "mass": 17628.0, "length": 153, "protein_name": "Interleukin-2", "gene_name": "IL2", "organism": "Human", "refseq_name": "interleukin-2 precursor", "refseq_ac": "NP_000577", "gene_names_uniprotkb": "IL2", "gene_names_refseq": "IL-2; IL2; TCGF; lymphokine", "protein_names_uniprotkb": "Interleukin-2; IL-2; T-cell growth factor; TCGF", "protein_names_refseq": "T cell growth factor; aldesleukin; interleukin-2 precursor; involved in regulation of T-cell clonal expansion", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); inflammatory bowel disease (Disease Ontology:DOID:0050589); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); atrial fibrillation (Disease Ontology:DOID:0060224); drug allergy (Disease Ontology:DOID:0060500); colorectal carcinoma (Disease Ontology:DOID:0080199); COVID-19 (Disease Ontology:DOID:0080600); Graves ophthalmopathy (Disease Ontology:DOID:0081120); graft-versus-host disease (Disease Ontology:DOID:0081267); birdshot chorioretinopathy (Disease Ontology:DOID:0111079); sensorineural hearing loss (Disease Ontology:DOID:10003); bacterial infectious disease (Disease Ontology:DOID:104); Alzheimer's disease (Disease Ontology:DOID:10652); open-angle glaucoma (Disease Ontology:DOID:1067); cholesteatoma of middle ear (Disease Ontology:DOID:10964); urinary bladder cancer (Disease Ontology:DOID:11054); anogenital venereal wart (Disease Ontology:DOID:11168); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); ataxia telangiectasia (Disease Ontology:DOID:12704); Sjogren's syndrome (Disease Ontology:DOID:12894); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); aggressive periodontitis (Disease Ontology:DOID:1474); limited scleroderma (Disease Ontology:DOID:1577); cystitis (Disease Ontology:DOID:1679); squamous cell carcinoma (Disease Ontology:DOID:1749); pancreatic cancer (Disease Ontology:DOID:1793); hepatitis C (Disease Ontology:DOID:1883); viral hepatitis (Disease Ontology:DOID:1884); hepatitis B (Disease Ontology:DOID:2043); autoimmune hepatitis (Disease Ontology:DOID:2048); post-traumatic stress disorder (Disease Ontology:DOID:2055); Takayasu's arteritis (Disease Ontology:DOID:2508); asthma (Disease Ontology:DOID:2841); high grade glioma (Disease Ontology:DOID:3070); interstitial lung disease (Disease Ontology:DOID:3082); atopic dermatitis (Disease Ontology:DOID:3310); brain infarction (Disease Ontology:DOID:3454); systemic scleroderma (Disease Ontology:DOID:418); renal cell carcinoma (Disease Ontology:DOID:4450); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); primary immunodeficiency disease (Disease Ontology:DOID:612); severe combined immunodeficiency (Disease Ontology:DOID:627); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); lung disease (Disease Ontology:DOID:850); bullous pemphigoid (Disease Ontology:DOID:8506); herpes zoster (Disease Ontology:DOID:8536); psoriasis (Disease Ontology:DOID:8893); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); Zellweger syndrome (Disease Ontology:DOID:905); systemic lupus erythematosus (Disease Ontology:DOID:9074); pemphigus (Disease Ontology:DOID:9182); type 1 diabetes mellitus (Disease Ontology:DOID:9744); alopecia areata (Disease Ontology:DOID:986)", "pathway": " (hsa:3558); (R-HSA-5673001); (R-HSA-8877330); (R-HSA-9020558); (R-HSA-912526)", "pathway_count": 5, "publication_count": 119, "publication_id_list": "10207047;10455108;10508167;10533284;10570274;10825200;10861392;10869344;10982827;11027663;11090077;11136978;11313946;11340297;11546808;11702783;12032311;12094235;12121613;12220513;1396583;14506247;1465135;14707138;1510960;15178252;1526987;15356145;1545823;15546878;16293754;1631562;16477002;16627759;16684964;16873067;1716764;17377532;17998941;18775330;1898771;19279408;19800266;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24897931;24937142;25142963;25219551;25781681;26085527;2793860;28778966;30089912;31135801;31428522;32560819;32576222;3264184;3491296;34932366;3500515;38904818;39333474;3935432;6148751;6306584;6312994;6324170;6330695;6333684;6403867;6438535;6608729;7499411;7529123;7568001;7600304;7722480;7809086;7935463;7972015;7973658;7973659;8022485;8052307;8084588;8294403;8344280;8394845;8493579;8580378;8631883;8643566;8665852;8700888;8702919;8710374;8824916;8939933;9030599;9099679;9108392;9512511;9604935;9885561;9927426", "class_list": "", "function": "CD38 in SLE CD4 T cells promotes Ca[2+] flux and suppresses interleukin-2 production by enhancing the expression of GM2 on the surface membrane. Publication Status: Online-Only, [RefSeq, PubMed]; Cytokine produced by activated CD4-positive helper T-cells and to a lesser extend activated CD8-positive T-cells and natural killer (NK) cells that plays pivotal roles in the immune response and tolerance (PubMed:6438535). Binds to a receptor complex composed of either the high-affinity trimeric IL-2R (IL2RA/CD25, IL2RB/CD122 and IL2RG/CD132) or the low-affinity dimeric IL-2R (IL2RB and IL2RG) (PubMed:16293754, PubMed:16477002). Interaction with the receptor leads to oligomerization and conformation changes in the IL-2R subunits resulting in downstream signaling starting with phosphorylation of JAK1 and JAK3 (PubMed:7973659). In turn, JAK1 and JAK3 phosphorylate the receptor to form a docking site leading to the phosphorylation of several substrates including STAT5 (PubMed:8580378). This process leads to activation of several pathways including STAT, phosphoinositide-3-kinase/PI3K and mitogen-activated protein kinase/MAPK pathways (PubMed:25142963). Functions as a T-cell growth factor and can increase NK-cell cytolytic activity as well (PubMed:6608729). Promotes strong proliferation of activated B-cells and subsequently immunoglobulin production (PubMed:6438535). Plays a pivotal role in regulating the adaptive immune system by controlling the survival and proliferation of regulatory T-cells, which are required for the maintenance of immune tolerance. Moreover, participates in the differentiation and homeostasis of effector T-cell subsets, including Th1, Th2, Th17 as well as memory CD8-positive T-cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; IL-2 regulates CD4(+) T cell differentiation and function, the effector and memory responses of CD8(+) T cells, and the loss of IL-2 or responsiveness to IL-2 at least in part explains the exhausted phenotype that occurs during chronic viral infections and in tumour responses. Review article, [RefSeq, PubMed]; Plasma Levels of Interleukin 2 (IL-2) Associated with Hearing Loss Evaluation in the Elderly., [RefSeq, PubMed]; This gene is a member of the interleukin 2 (IL2) cytokine subfamily which includes IL4, IL7, IL9, IL15, IL21, erythropoietin, and thrombopoietin. The protein encoded by this gene is a secreted cytokine produced by activated CD4+ and CD8+ T lymphocytes, that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine (IL2R) is a heterotrimeric protein complex whose gamma chain is also shared by IL4 and IL7. The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Sep 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 4, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring", "glycan_count": 20, "disease_count": 60, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P01585", "ec_number_list": "", "go_molecular_function": "GO:0019209 kinase activator activity;GO:0031851 kappa-type opioid receptor binding;GO:0043208 glycosphingolipid binding;GO:0005125 cytokine activity;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002366 leukocyte activation involved in immune response;GO:0038110 interleukin-2-mediated signaling pathway;GO:2000320 negative regulation of T-helper 17 cell differentiation;GO:0032740 positive regulation of interleukin-17 production;GO:0034105 positive regulation of tissue remodeling", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "P60568-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q01113-1", "uniprot_id": "IL9R_HUMAN", "mass": 57147.0, "length": 521, "protein_name": "Interleukin-9 receptor", "gene_name": "IL9R", "organism": "Human", "refseq_name": "interleukin-9 receptor isoform 1 precursor", "refseq_ac": "NP_002177", "gene_names_uniprotkb": "IL9R", "gene_names_refseq": "CD129; IL-9R; IL9R", "protein_names_uniprotkb": "Interleukin-9 receptor; IL-9 receptor; IL-9R", "protein_names_refseq": "IL-9 receptor; interleukin-9 receptor isoform 1 precursor", "tax_id": 9606, "disease": "cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:3581); (R-HSA-8985947)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10562299;10655549;10919676;11306517;1376929;18250158;18591661;20169197;21439476;22638550;25297818;28832583;29242379;30114630;32329646;35154160;35416152;35998415;7718508;7775604;8022485;8193355;8666384;8756628;9535918", "class_list": "", "function": "Decreased placental IL9 and IL9R in preeclampsia impair trophoblast cell proliferation, invasion, and angiogenesis., [RefSeq, PubMed]; IL-9 and IL-9 receptor expression in lymphocytes from bronchoalveolar lavage fluid of patients with interstitial lung disease., [RefSeq, PubMed]; IL-9R Loss in Type 2 Innate Lymphoid Cells Reflects Treg Impairment in Patients With Mastocytosis., [RefSeq, PubMed]; Plays an important role in the immune response against parasites by acting as a receptor of IL9., [UniProtKB, UniProtKB]; The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Thus the IL-9/IL-9R system is a new contributing factor in the cytokine network of psoriatic arthritis and rheumatoid arthritis., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "B9ZVT0;Q14634;Q8WWU1;Q96TF0", "ec_number_list": "", "go_molecular_function": "GO:0004919 interleukin-9 receptor activity;GO:0019983 interleukin-9 binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0042127 regulation of cell population proliferation;GO:0016064 immunoglobulin mediated immune response;GO:0038113 interleukin-9-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q01113-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q0D2I5-1", "uniprot_id": "IFFO1_HUMAN", "mass": 61979.0, "length": 559, "protein_name": "Non-homologous end joining factor IFFO1", "gene_name": "IFFO1", "organism": "Human", "refseq_name": "non-homologous end joining factor IFFO1 isoform 4", "refseq_ac": "NP_001034759", "gene_names_uniprotkb": "IFFO1; IFFO", "gene_names_refseq": "HOM-TES-103; IFFO1; IFFO", "protein_names_uniprotkb": "Non-homologous end joining factor IFFO1; Intermediate filament family orphan 1; NHEJ factor IFFO1; Tumor antigen HOM-TES-103", "protein_names_refseq": "NHEJ factor IFFO1; intermediate filament-like MGC:2625; non-homologous end joining factor IFFO1 isoform 4; non-homologous end joining factor IFFO1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25900)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;12032826;25418920;25880248;26811146;26929215;27600516;27846572;28904123;29493099;29557506;31324691;31548606;31844290;32157095;32265295;32357974;32387766;32488085;32938616;32938750;32983136;33298915;33936100;33968037;34171305;34509645;34932366;35132862;35580925;36010968;36257380;37405427;37541260;38665916", "class_list": "", "function": "CircIFFO1 suppresses tumor growth and metastasis of cutaneous squamous cell carcinoma by targeting the miR-424-5p/NFIB axis., [RefSeq, PubMed]; METTL3-mediated N6-methyladenosine modification and HDAC5/YY1 promote IFFO1 downregulation in tumor development and chemo-resistance., [RefSeq, PubMed]; Nuclear matrix protein involved in the immobilization of broken DNA ends and the suppression of chromosome translocation during DNA double-strand breaks (DSBs) (PubMed:31548606). Interacts with the nuclear lamina component LMNA, resulting in the formation of a nucleoskeleton that relocalizes to the DSB sites in a XRCC4-dependent manner and promotes the immobilization of the broken ends, thereby preventing chromosome translocation (PubMed:31548606). Acts as a scaffold that allows the DNA repair protein XRCC4 and LMNA to assemble into a complex at the DSB sites (PubMed:31548606)., [UniProtKB, PubMed]; The lamin A/C-IFFO1-constituted nucleoskeleton prevents chromosome translocation by immobilizing broken DNA ends during tumorigenesis., [RefSeq, PubMed]; This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 14, "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": "Q24JT6;Q7L5J9;Q7Z5X4;Q9BQ46", "ec_number_list": "", "go_molecular_function": "GO:0008093 cytoskeletal anchor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005882 intermediate filament;GO:0016363 nuclear matrix;GO:0035861 site of double-strand break;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0006303 double-strand break repair via nonhomologous end joining;GO:1990683 DNA double-strand break attachment to nuclear envelope", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q0D2I5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13907-1", "uniprot_id": "IDI1_HUMAN", "mass": 26319.0, "length": 227, "protein_name": "Isopentenyl-diphosphate Delta-isomerase 1", "gene_name": "IDI1", "organism": "Human", "refseq_name": "isopentenyl-diphosphate Delta-isomerase 1 isoform b", "refseq_ac": "NP_001304884", "gene_names_uniprotkb": "IDI1", "gene_names_refseq": "IDI1; IPP1; IPPI1", "protein_names_uniprotkb": "Isopentenyl-diphosphate Delta-isomerase 1; 5.3.3.2; IPP isomerase 1; IPPI1; Isopentenyl pyrophosphate isomerase 1", "protein_names_refseq": "IPP isomerase 1; isopentenyl diphosphate dimethylallyl diphosphate isomerase 1; isopentenyl pyrophosphate isomerase 1; isopentenyl-diphosphate Delta-isomerase 1 isoform b; isopentenyl-diphosphate Delta-isomerase 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:3422); (R-HSA-2426168); (R-HSA-9969896)", "pathway_count": 3, "publication_count": 131, "publication_id_list": "10.1101/2023.09.13.557529;10026212;10400691;10620343;10666321;10759542;10896663;11160603;11237011;11414710;12083769;12177166;12764144;1377680;14629038;14729858;14730012;14766201;16464866;16519518;16684881;17250851;17449569;17925399;18327899;18559965;18654640;18682402;18726356;18937434;18991276;19608861;1968462;20138239;20394422;20450493;20719759;20877624;20937905;20955688;21420384;22634312;23481700;24366607;24715725;25418920;25576301;25950736;26154972;26375851;26811146;26929215;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30524438;30567295;31222486;31844290;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33246356;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34211107;34357683;34405274;34509645;35051231;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;38665916;5918048;7567999;7592729;7732023;7909540;7911016;7913309;8020941;8593458;8619637;8626466;8626488;8647822;8663599;8798690;8806705;8976377;9099716;9380443;9604010;9634533;9741684;9748295", "class_list": "", "function": "Canonical pathway analysis, using Ingenuity Pathway Analysis software, revealed that the only genes in the 'superpathway of cholesterol biosynthesis' were Idi1 (upregulated) and Hmgcs2 (downregulated). The Idi1 and Hmgcs2 genes have regulatory roles in atrial lipotoxic myopathy associated with atrial enlargement Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the 1,3-allylic rearrangement of the homoallylic substrate isopentenyl (IPP) to its highly electrophilic allylic isomer, dimethylallyl diphosphate (DMAPP)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Only one of the two isoforms (IDI1) is highly conserved, ubiquitously expressed and most likely responsible for housekeeping isomerase activity, [RefSeq, PubMed]; The present findings suggest that IDI1 and IDI2 may be associated with the production of cholesterol metabolites in neurons, leading to alpha-synuclein aggregation during the process of Lewy body formation., [RefSeq, PubMed]; Within the 40-kb region on 10p15.3 subtelomere, which harbours two genes encoding isopentenyl diphosphate isomerase 1 (IDI1) and IDI2, there was found a segmental copy-number gain in a large proportion of sporadic amyotrophic lateral sclerosis 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": 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": 4, "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": "B4E155;Q32Q13;Q53GQ6;Q86U81;Q8WUX8;Q96IZ4;Q9BQ74", "ec_number_list": "5.3.3.2", "go_molecular_function": "GO:0004452 isopentenyl-diphosphate delta-isomerase activity;GO:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005829 cytosol", "go_biological_process": "GO:0009240 isopentenyl diphosphate biosynthetic process;GO:0050992 dimethylallyl diphosphate biosynthetic process;GO:0006695 cholesterol biosynthetic process;GO:0035634 response to stilbenoid;GO:0033386 geranylgeranyl diphosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q13907-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14213-1", "uniprot_id": "IL27B_HUMAN", "mass": 25396.0, "length": 229, "protein_name": "Interleukin-27 subunit beta", "gene_name": "EBI3", "organism": "Human", "refseq_name": "interleukin-27 subunit beta precursor", "refseq_ac": "NP_005746", "gene_names_uniprotkb": "EBI3; IL27B", "gene_names_refseq": "EBI3; IL-27B; IL27B; IL35B", "protein_names_uniprotkb": "Interleukin-27 subunit beta; EBV-induced gene 3 protein; Epstein-Barr virus-induced gene 3 protein; IL-27 subunit beta; IL-27B", "protein_names_refseq": "EBV-induced gene 3 protein; Epstein-Barr virus induced gene 3; IL-27 subunit beta; IL27 subunit; IL35 subunit; cytokine receptor; epstein-Barr virus-induced gene 3 protein; interleukin-27 subunit beta precursor; interleukin-27 subunit beta", "tax_id": 9606, "disease": "pre-eclampsia (Disease Ontology:DOID:10591)", "pathway": " (hsa:10148); (R-HSA-8984722); (R-HSA-9020956)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "12121660;12734330;12829785;14565860;14764690;15944288;16324152;17294231;17874423;18033300;18292512;18389480;19933857;20519510;21631431;21872626;22306691;22424782;22487722;22645359;22814351;23481700;24058793;24572363;24714562;24715725;24743305;24771852;25418920;25502872;25576301;25892735;25992861;26154972;26279360;26375851;26811146;26929215;27119567;27846572;27920218;28063628;28218747;28228285;28467828;28514659;28649982;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;30315122;30410026;31092671;31217245;31844290;31998317;32265295;32350084;32357974;32502341;32983136;33141586;33298915;33912179;33936100;34357683;34932366;35051231;35154160;35580925;36548354;37878703;38243080;39422056;7584149;8483502;8551575;9342359", "class_list": "", "function": "Associates with IL27 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal expansion of naive but not memory CD4 T-cells. It also strongly synergizes with IL-12 to trigger interferon-gamma/IFN-gamma production of naive CD4 T-cells, binds to the cytokine receptor WSX-1/TCCR. Another important role of IL-27 is its antitumor activity as well as its antiangiogenic activity with activation of production of antiangiogenic chemokines., [UniProtKB, PubMed]; Emerging Roles of IL-27 in Trophoblast Cells and Pregnancy Complications. Review article, [RefSeq, PubMed]; Epstein-Barr virus-induced gene 3 commits human mesenchymal stem cells to differentiate into chondrocytes via endoplasmic reticulum stress sensor. Publication Status: Online-Only, [RefSeq, PubMed]; Human interleukin-12alpha and EBI3 are cytokines with anti-inflammatory functions., [RefSeq, PubMed]; This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008]., [RefSeq]; Tumor-derived interleukin 35 mediates the dissemination of gemcitabine resistance in pancreatic adenocarcinoma., [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": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0N0N2;O75269", "ec_number_list": "", "go_molecular_function": "GO:0045523 interleukin-27 receptor binding;GO:0005125 cytokine activity;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0070106 interleukin-27-mediated signaling pathway;GO:0043066 negative regulation of apoptotic process;GO:0043410 positive regulation of MAPK cascade;GO:0042088 T-helper 1 type immune response;GO:0032729 positive regulation of type II interferon production", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q14213-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T764-1", "uniprot_id": "IFT1B_HUMAN", "mass": 54993.0, "length": 474, "protein_name": "Protein IFIT1 homolog B", "gene_name": "IFIT1B", "organism": "Human", "refseq_name": "protein IFIT1 homolog B", "refseq_ac": "NP_001010987", "gene_names_uniprotkb": "IFIT1B; IFIT1L", "gene_names_refseq": "IFIT1B; IFIT1L; bA149I23.6", "protein_names_uniprotkb": "Protein IFIT1 homolog B; Interferon-induced protein with tetratricopeptide repeats 1-like protein; Interferon-induced protein with tetratricopeptide repeats 1B", "protein_names_refseq": "interferon-induced protein with tetratricopeptide repeats 1-like protein; protein IFIT1 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:439996)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "23481700;27240734;31530632;31844290;32265295;32350084;33981976;34087483;34405274;35051231", "class_list": "", "function": "IFIT1B is likely non-functional, lacking the critical antiviral role of IFIT1. Unlike IFIT1, which is essential in the innate immune response as part of an interferon-dependent multiprotein complex, IFIT1B does not prevent the translation of viral RNAs that lack host-specific 2'-O-methylation at their 5' cap. Consequently, it probably cannot inhibit their translation by competing with the host translation machinery., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7E245", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0071345 cellular response to cytokine stimulus;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5T764-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VF2-1", "uniprot_id": "IGFN1_HUMAN", "mass": 137763.0, "length": 1251, "protein_name": "Immunoglobulin-like and fibronectin type III domain-containing protein 1", "gene_name": "IGFN1", "organism": "Human", "refseq_name": "immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform 1", "refseq_ac": "NP_001158058", "gene_names_uniprotkb": "IGFN1; EEF1A2BP1; KYIP1", "gene_names_refseq": "EEF1A2BP1; IGFN1", "protein_names_uniprotkb": "Immunoglobulin-like and fibronectin type III domain-containing protein 1; EEF1A2-binding protein 1; KY-interacting protein 1", "protein_names_refseq": "EEF1A2-binding protein 1; KY-interacting protein 1; eEF1A2 binding protein; immunoglobulin-like and fibronectin type III domain-containing protein 1 isoform 1; immunoglobulin-like and fibronectin type III domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91156)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1038/emboj.2013.79;15385448;18756455;23584533;28832583;29242379;29323771;30335789;33968037;34932366;35051231", "class_list": "", "function": "A model in which this increased expression of IGFN1 serves to down-regulate protein synthesis via interaction with eEF1A during denervation., [RefSeq, PubMed]; A novel variant, c.6196A>G in the IGFN1 gene, was significantly associated with only Polypoidal choroidal vasculopathy (combined p = 7.1 x 10(-11) , odds ratio = 9.44), but not with neovascular age-related macular degeneration(combined p = 0.683, odds ratio = 1.30)., [RefSeq, PubMed]; Study results in UOK146 renal cell carcinoma cell line provide evidence of novel splicing in intron 15 of IGFN1 leading to the formation of two more alternative spliced isoforms. Potential G-quadruplex forming sequence (PQS) in this intron forms a stable G-quadruplex which is involved in the alternative splicing and regulates splicing efficiency. 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": 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": "F8WAI1;Q9NT72", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0030018 Z disc", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q86VF2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N5X7-1", "uniprot_id": "IF4E3_HUMAN", "mass": 24441.0, "length": 224, "protein_name": "Eukaryotic translation initiation factor 4E type 3", "gene_name": "EIF4E3", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4E type 3 isoform b", "refseq_ac": "NP_001128121", "gene_names_uniprotkb": "EIF4E3", "gene_names_refseq": "EIF4E3; eIF-4E3; eIF4E-3", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4E type 3; eIF-4E type 3; eIF-4E3; eIF4E type 3; eIF4E-3", "protein_names_refseq": "eukaryotic translation initiation factor 4E type 3 isoform b; eukaryotic translation initiation factor 4E type 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:317649); (R-HSA-1169408); (R-HSA-9918487)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "11095724;11112487;11157743;11237011;11788588;12525615;12582176;15131269;15485925;15702989;16009940;16112642;16122702;16139798;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;17289916;17376915;18287095;18305167;18583345;19073728;19125153;19270716;20133869;20219937;20308324;20385878;23587918;25403230;26735137;27578149;28942592;29117567;29242379;30429286;32890404;33893802;33968037;33981976;34696522;35051231;35580925;35585045;37067401;38177122;7559393;9525617", "class_list": "", "function": "EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[supplied by OMIM, Mar 2008]., [RefSeq]; EIF4E3 forms an active eIF4F complex during stresses (eIF4FS) targeting mTOR and re-programs the translatome., [RefSeq, PubMed]; EIF4E3 impedes oncogenic transformation and its expression is lost in some cancers., [RefSeq, PubMed]; Following heat shock, eIF4E2 is found in both processing bodies and stress granules, whereas eIF4E3_A relocates only to stress granules. Publication Status: Online-Only, [RefSeq, PubMed]; M7G-related genes-NCBP2 and EIF4E3 determine immune contexture in head and neck squamous cell carcinoma by regulating CCL4/CCL5 expression., [RefSeq, PubMed]; MNK1 and MNK2 inhibition ablates eIF4E1 phosphorylation and concurrently enhances eIF4E3 expression in diffuse large B-cell lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Recognizes and binds the 7-methylguanosine-containing mRNA cap during an early step in the initiation of protein synthesis. May act as an inhibitor of EIF4E1 activity (By similarity)., [UniProtKB]; We performed bioinformatics analyses of ESTs and the 3'UTRs of the main transcript splice variants of the translational initiation factor eIF4E1 and its family members, eIF4E2 and eIF4E3. We propose to elucidate the minor splice variants of eIF4E2 and eIF4E3 in great detail because they might produce proteins with modified features that fulfill different cellular roles from their major counterparts., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "B2R963;Q6NUT1", "ec_number_list": "", "go_molecular_function": "GO:0000340 RNA 7-methylguanosine cap binding;GO:0003743 translation initiation factor activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016281 eukaryotic translation initiation factor 4F complex", "go_biological_process": "GO:0006417 regulation of translation;GO:0006413 translational initiation", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8N5X7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TCB0-1", "uniprot_id": "IFI44_HUMAN", "mass": 50491.0, "length": 444, "protein_name": "Interferon-induced protein 44", "gene_name": "IFI44", "organism": "Human", "refseq_name": "interferon-induced protein 44", "refseq_ac": "NP_006408", "gene_names_uniprotkb": "IFI44; MTAP44", "gene_names_refseq": "IFI44; MTAP44; TLDC5; p44", "protein_names_uniprotkb": "Interferon-induced protein 44; Microtubule-associated protein 44; p44", "protein_names_refseq": "TBC/LysM-associated domain containing 5; interferon-induced protein 44; interferon-induced, hepatitis C-associated microtubular aggregate protein (44kD); microtubule-associated protein 44", "tax_id": 9606, "disease": "", "pathway": " (hsa:10561)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "11237011;16886895;17784819;18953482;22009320;22424782;23481700;24714562;24715725;25502872;25505266;25880248;25892735;26154972;26375851;26728094;26992070;27543614;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32350084;32357974;32488085;32502341;32611756;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;34171305;34357683;34405274;34932366;35051231;35318648;35580925;36010968;36189314;36215666;36241641;36284347;36581221;37938771;38989827;39051937;7925411", "class_list": "", "function": "ACSL4 upregulates IFI44 and IFI44L expression and promotes the proliferation and invasiveness of head and neck squamous cell carcinoma cells., [RefSeq, PubMed]; Binds and depletes intracellular GTP, abolishing extracellular signal-regulated kinase (ERK) signaling and resulting finally in cell cycle arrest., [RefSeq, PubMed]; IFI44 is an immune evasion biomarker for SARS-CoV-2 and Staphylococcus aureus infection in patients with RA. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon-Induced Protein 44 and Interferon-Induced Protein 44-Like Restrict Replication of Respiratory Syncytial Virus. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon-induced protein 44 (IFI44) and interferon regulatory factor 4 (IRF4) gene expression in rheumatoid arthritis., [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]; This protein aggregates to form microtubular structures., [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": "B7ZAG3;D3DQ80;Q14496", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006955 immune response;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q8TCB0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96M15-1", "uniprot_id": "IFAS1_HUMAN", "mass": 15995.0, "length": 143, "protein_name": "Putative uncharacterized protein IGF2BP2-AS1", "gene_name": "IGF2BP2-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGF2BP2-AS1; C3orf65", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein IGF2BP2-AS1; IGF2BP2 antisense RNA 1; IGF2BP2 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "26992070;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": 0.5, "record_id": "Q96M15-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PD4-1", "uniprot_id": "IL17F_HUMAN", "mass": 18045.0, "length": 163, "protein_name": "Interleukin-17F", "gene_name": "IL17F", "organism": "Human", "refseq_name": "interleukin-17F precursor", "refseq_ac": "NP_443104", "gene_names_uniprotkb": "IL17F", "gene_names_refseq": "CANDF6; IL-17F; IL17F; ML-1; ML1", "protein_names_uniprotkb": "Interleukin-17F; Cytokine ML-1; IL-17F", "protein_names_refseq": "cytokine ML-1; interleukin-17F precursor", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815); leprosy (Disease Ontology:DOID:1024); pneumoconiosis (Disease Ontology:DOID:10316); silicosis (Disease Ontology:DOID:10325); diffuse scleroderma (Disease Ontology:DOID:1580); chronic mucocutaneous candidiasis (Disease Ontology:DOID:2058); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); allergic rhinitis (Disease Ontology:DOID:4481); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:112744); (R-HSA-448424); (R-HSA-6785807); (R-HSA-9705671)", "pathway_count": 4, "publication_count": 168, "publication_id_list": "10023775;10219247;10369418;10510379;10586089;10867011;11058569;11084045;11104795;11120780;11278437;11278729;11356008;11404481;11463377;11574464;11591732;11591768;11891214;11960372;12019269;12223527;12242343;12600988;12692549;12759408;12832402;14634100;14712222;15116091;15208624;15261459;15340161;15584925;15805299;15869882;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16397230;16451196;16510571;16540365;16606674;16785495;17355969;17427945;17458857;17572495;17911633;18243101;18353781;18447642;18644974;18684971;19124156;19185846;19397496;19838198;20493732;21102457;21252155;21350122;21689689;21730069;21937440;21993848;21993849;21994466;22046235;22205702;22383755;22693070;22851691;22941947;23086340;23124025;23172665;23455323;23555662;23834281;23967200;24097101;24743777;25234944;28827714;31850239;32187518;32353859;32428392;32589897;32726803;32728199;32953130;32979938;33024073;33060197;33097660;33110251;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33963333;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34597346;35102342;35643212;37051252;38331704;38416662;38531177;38767154;38871733;7510216;7512451;7529288;7795521;7796300;7898939;7907877;8085155;8602263;8621622;8663118;8668165;8777726;8797861;8816495;9013879;9651359;9723655;9736340;9822675;9874564", "class_list": "", "function": "A cytokine involved in the activaion of MAP kinases, [RefSeq, PubMed]; Association of IL-17F rs763780 polymorphism and risk of psoriasis in Turkish population: a case-control study., [RefSeq, PubMed]; Association of Interleukin-17A and Interleukin-17F Gene Polymorphisms with Atopic Dermatitis in Chinese Children., [RefSeq, PubMed]; Association of interleukin-17F (rs763780) single nucleotide polymorphism with multiple sclerosis and optic neuritis. Publication Status: Online-Only, [RefSeq, PubMed]; Dual blockade of interleukin-17A and interleukin-17F as a therapeutic strategy for liver fibrosis: Investigating the potential effect and mechanism of brodalumab., [RefSeq, PubMed]; Effector cytokine of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity (PubMed:21350122). IL17A-IL17F signals via IL17RA-IL17RC heterodimeric receptor complex, triggering homotypic interaction of IL17RA and IL17RC chains with TRAF3IP2 adapter through SEFIR domains. This leads to downstream TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways ultimately resulting in transcriptional activation of cytokines, chemokines, antimicrobial peptides and matrix metalloproteinases, with potential strong immune inflammation (PubMed:11574464, PubMed:11591732, PubMed:11591768, PubMed:17911633, PubMed:18684971, PubMed:21350122, PubMed:28827714). IL17A-IL17F is primarily involved in host defense against extracellular bacteria and fungi by inducing neutrophilic inflammation (By similarity). As signature effector cytokine of T-helper 17 cells (Th17), primarily induces neutrophil activation and recruitment at infection and inflammatory sites (By similarity). Stimulates the production of antimicrobial beta-defensins DEFB1, DEFB103A, and DEFB104A by mucosal epithelial cells, limiting the entry of microbes through the epithelial barriers (By similarity). IL17F homodimer can signal via IL17RC homodimeric receptor complex, triggering downstream activation of TRAF6 and NF-kappa-B signaling pathway (PubMed:32187518). Via IL17RC induces transcriptional activation of IL33, a potent cytokine that stimulates group 2 innate lymphoid cells and adaptive T-helper 2 cells involved in pulmonary allergic response to fungi. Likely via IL17RC, promotes sympathetic innervation of peripheral organs by coordinating the communication between gamma-delta T cells and parenchymal cells. Stimulates sympathetic innervation of thermogenic adipose tissue by driving TGFB1 expression (By similarity). Regulates the composition of intestinal microbiota and immune tolerance by inducing antimicrobial proteins that specifically control the growth of commensal Firmicutes and Bacteroidetes (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Interleukin 17F Gene Polymorphism as a Potential Protective Factor in the Immunopathology of Ocular Toxoplasmosis., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 8, "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": "Q6NSI0;Q7Z6P4;Q96PI8;Q9NUE6", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0005125 cytokine activity;GO:0019955 cytokine binding;GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0017015 regulation of transforming growth factor beta receptor signaling pathway;GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q96PD4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTL4-1", "uniprot_id": "IER2_HUMAN", "mass": 24196.0, "length": 223, "protein_name": "Immediate early response gene 2 protein", "gene_name": "IER2", "organism": "Human", "refseq_name": "immediate early response gene 2 protein", "refseq_ac": "NP_004898", "gene_names_uniprotkb": "IER2; ETR101; PIP92", "gene_names_refseq": "CHX1; ETR101; IER2", "protein_names_uniprotkb": "Immediate early response gene 2 protein; Protein ETR101", "protein_names_refseq": "chxI protein homolog; immediate early response gene 2 protein", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); childhood acute myeloid leukemia (Disease Ontology:DOID:0070323); melanoma (Disease Ontology:DOID:1909); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:9592)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "19584537;2061303;22120713;23481700;24366607;25418920;25576301;26154972;26260137;26375851;26992070;27397612;27846572;27862975;27920218;28228285;28832583;28904123;29242379;29493099;29557506;29632711;29769354;29786170;29789417;30315122;30429286;30524438;30779550;31154438;31530632;31844290;31848261;31998317;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34211107;34357683;34509645;34611309;34932366;35051231;35318648;36010968;36017918;36047562;36241641;36284347;39207055", "class_list": "", "function": "DNA-binding protein that seems to act as a transcription factor (PubMed:19584537). Involved in the regulation of neuronal differentiation, acts upon JNK-signaling pathway activation and plays a role in neurite outgrowth in hippocampal cells (By similarity). May mediate with FIBP FGF-signaling in the establishment of laterality in the embryo (By similarity). Promotes cell motility, seems to stimulate tumor metastasis (PubMed:22120713)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; Ectopic Ier2 expression promoted the motility and invasiveness of poorly metastatic 1AS pancreatic tumor cells in vitro, [RefSeq, PubMed]; Hypoxic Upregulation of IER2 Increases Paracrine GMFG Signaling of Endoplasmic Reticulum Stress-CAF to Promote Chordoma Progression via Targeting ITGB1., [RefSeq, PubMed]; IER2-induced senescence drives melanoma invasion through osteopontin., [RefSeq, PubMed]; Long Non-Coding RNA PCAT19 Regulates the Malignant Progression of Bladder Cancer through the miR-335-5p/IER2 Axis., [RefSeq, PubMed]; PP2A-B55 and its adapter proteins IER2 and IER5 regulate the activity of RB family proteins and the expression of cell cycle-related genes., [RefSeq, PubMed]; Results from western blot analysis showed that the activity of the focal adhesion kinase (FAK) can be regulated by IER2., [RefSeq, PubMed]; The functioning of ETR101 as a transcriptional activator for the gene ISYNA1, [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": 2, "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": "Q03827;Q2TAZ2", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030182 neuron differentiation;GO:0048870 cell motility;GO:0071774 response to fibroblast growth factor", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9BTL4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BUP3-1", "uniprot_id": "HTAI2_HUMAN", "mass": 27049.0, "length": 242, "protein_name": "Protein HTATIP2", "gene_name": "HTATIP2", "organism": "Human", "refseq_name": "protein HTATIP2 isoform a", "refseq_ac": "NP_001091990", "gene_names_uniprotkb": "HTATIP2; CC3; TIP30", "gene_names_refseq": "CC3; HTATIP2; SDR44U1; TIP30", "protein_names_uniprotkb": "Protein HTATIP2; 30 kDa HIV-1 TAT-interacting protein; HIV-1 TAT-interactive protein 2", "protein_names_refseq": "30 kDa HIV-1 TAT-interacting protein; HIV-1 TAT-interactive protein 2; HIV-1 Tat interactive protein 2, 30kDa; Tat-interacting protein (30kD); oxidoreductase HTATIP2; protein HTATIP2 isoform a; protein HTATIP2; short chain dehydrogenase/reductase family 44U, member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10553)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;10611237;10698937;11237011;14695192;15073177;15282309;15728189;18519672;19562805;20068231;24237036;24715725;25576301;25645385;25802875;26154972;27846572;27920218;28832583;28904123;29242379;29493099;29508533;29557506;29632711;30833945;31154438;31217245;31468715;31844290;31848261;32157095;32161166;32265295;32387766;32488085;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34561969;34688245;34725712;35051231;35154160;35494241;35561310;35580925;36010968;36241641;36284347;36817429;37847559;38303513;38665916;9174052;9482853", "class_list": "", "function": "Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator. Publication Status: Online-Only, [RefSeq, PubMed]; HTATIP2 Overexpression was Associated With a Good Prognosis in Gastric Cancer., [RefSeq, PubMed]; HTATIP2 regulates arteriogenic activity in monocytes from patients with limb ischemia. Publication Status: Online-Only, [RefSeq, PubMed]; Represses translation by preventing reactivation of elongation factor eEF1A (By similarity). May also inhibit nuclear import by competing with nuclear import substrates for binding to a subset of nuclear transport receptors (PubMed:15282309). Has additionally been proposed to act as a redox sensor involved in cellular oxidative stress surveillance (PubMed:18519672)., [UniProtKB, PubMed, UniProtKB, PubMed]; The potential role of human HIV-1 TAT-Interactive Protein 2 levels in the pathogenesis of contact dermatitis 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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 5, "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": "A8K7S7;D3DQY8;O15383;O60520;O95345;Q53GC1;Q53GG2;Q6IBI3", "ec_number_list": "", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006417 regulation of translation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0046777 protein autophosphorylation;GO:0043068 positive regulation of programmed cell death", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9BUP3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1B7-1", "uniprot_id": "I2BPL_HUMAN", "mass": 82659.0, "length": 796, "protein_name": "Probable E3 ubiquitin-protein ligase IRF2BPL", "gene_name": "IRF2BPL", "organism": "Human", "refseq_name": "probable E3 ubiquitin-protein ligase IRF2BPL", "refseq_ac": "NP_078772", "gene_names_uniprotkb": "IRF2BPL; C14orf4; EAP1; KIAA1865; My039", "gene_names_refseq": "C14orf4; EAP1; IRF2BPL; NEDAMSS", "protein_names_uniprotkb": "Probable E3 ubiquitin-protein ligase IRF2BPL; 2.3.2.27; Enhanced at puberty protein 1; Interferon regulatory factor 2-binding protein-like", "protein_names_refseq": "E3 ubiquitin-protein ligase IRF2BPL; enhanced at puberty 1; enhanced at puberty protein 1; probable E3 ubiquitin-protein ligase IRF2BPL", "tax_id": 9606, "disease": "neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (Disease Ontology:DOID:0081327); central nervous system disease (Disease Ontology:DOID:331)", "pathway": " (hsa:64207)", "pathway_count": 1, "publication_count": 127, "publication_id_list": "10.1101/2023.09.13.557529;11095982;15302935;15345747;16964243;17081983;17287340;17322306;17334524;17627301;18212344;18220336;18452278;18669648;18707149;18767875;19413330;19415658;19651622;19664994;19664995;19690332;20068231;20166139;21406692;22869377;23186163;23301498;23481700;24275569;24715725;25418920;25502872;25576301;25645385;25880248;26154972;26375851;26992070;27543614;27862975;27920218;28832583;28834231;28904123;29237092;29242379;29331515;29351928;29374064;29393594;29493099;29508533;29557506;29632711;29786170;29789417;30001391;30057031;30059200;30166628;30315122;30379171;30429286;30524438;30779550;30833945;31092671;31154438;31373491;31492838;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33214551;33298915;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34105348;34171305;34185709;34357683;34433824;34561969;34725712;34846842;34864472;34932366;35051231;35132862;35254053;35289036;35318648;35513511;35580925;36241641;36284347;37114479;37340703;37541260;37938771;38253038;38481258;38650104;38665916;39302247;39531497;39534244;40307207", "class_list": "", "function": "Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration., [RefSeq, PubMed]; C14orf4 encodes a transcriptional regulator that, acting within the neuroendocrine brain, contributes to controlling female reproductive function, [RefSeq, PubMed]; De novo variants of IRF2BPL result in developmental epileptic disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation., [RefSeq, PubMed]; IRF2BPL as a novel causative gene for progressive myoclonus epilepsy., [RefSeq, PubMed]; Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins (PubMed:29374064). Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signaling pathway (PubMed:29374064). Probably plays a role in the development of the central nervous system and in neuronal maintenance (Probable). Also acts as a transcriptional regulator of genes controlling female reproductive function. May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 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": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "Q8NDQ2;Q96JG2;Q9H3I7", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0046543 development of secondary female sexual characteristics;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q9H1B7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H293-1", "uniprot_id": "IL25_HUMAN", "mass": 20330.0, "length": 177, "protein_name": "Interleukin-25", "gene_name": "IL25", "organism": "Human", "refseq_name": "interleukin-25 isoform 1 precursor", "refseq_ac": "NP_073626", "gene_names_uniprotkb": "IL25; IL17E; PRO10272", "gene_names_refseq": "IL17E; IL25", "protein_names_uniprotkb": "Interleukin-25; IL-17E; IL-25; Interleukin-17E", "protein_names_refseq": "interleukin-17E; interleukin-25 isoform 1 precursor", "tax_id": 9606, "disease": "gastric ulcer (Disease Ontology:DOID:10808); diffuse scleroderma (Disease Ontology:DOID:1580); atopic dermatitis (Disease Ontology:DOID:3310); allergic rhinitis (Disease Ontology:DOID:4481); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:64806); (R-HSA-448424)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "11058597;11574464;11714825;11754819;12239140;12975309;15340161;15860795;16397230;16785495;21993848;21993849;23271734;23834281;24715725;25821217;37702163;37781372;38028847;38396704;38818476;8777726", "class_list": "", "function": "Cytokine produced by various cells such as eosinophils, T-helper type 2 (Th2) cells or epithelial cells that plays a role in internal safety of adaptive immune responses by regulating cytokine production (PubMed:15860795, PubMed:25821217). Promotes and augments T-helper type 2 responses locally or systemically (PubMed:25821217). Exerts its activity via its receptor composed of IL17RA and IL17RB for signal transduction (By similarity). In turn, stimulates the JAK2-STAT5A pathway and promotes the secretion of type-2 associated cytokines including IL4, IL9 and IL13 (PubMed:25821217). Also induces the release of IL8, and IL6 from eosinophils through the combined activation of MAPK and NF-kappa-B pathways (PubMed:15860795). Inhibits the differentiation of T-helper (Th17) cells via the production of IL4, IL5 and IL13 (PubMed:11754819)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Evaluation of IL-6, IL-25 & IL-35 in the COVID 19 Patients and their Correlation to Demography Data in the Symptomatic Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Interleukin-25 as a Potential Biomarker in Lung Metastasis of Hepatocellular Carcinoma with HBV History in Chinese Patients: A Single Center, Case-control Study. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of IL-17E up-regulates gene expression of Th2 cytokines and induces growth retardation, jaundice, and multiorgan inflammation in a transgenic mouse model., [RefSeq, PubMed]; Proteomic Analysis by 4D Label-free MS-PRM Provides Insight into the Role and Regulatory Mechanisms of IL-25 in NK Cells., [RefSeq, PubMed]; The Alarmin Triad-IL-25, IL-33, and TSLP-Serum Levels and Their Clinical Implications in Chronic Spontaneous Urticaria. Publication Status: Online-Only, [RefSeq, PubMed]; The IL-25/ILC2 axis promotes lung cancer with a concomitant accumulation of immune-suppressive cells in tumors in humans and mice. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]., [RefSeq]; Transgenic overexpression from humans into mice results in eosinophilia, B-lymphocyte hyperplasia, and altered antibody production., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "Q2M3F0;Q8IZV3;Q8WXB0", "ec_number_list": "", "go_molecular_function": "GO:0030380 interleukin-17E receptor binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0002437 inflammatory response to antigenic stimulus;GO:0070534 protein K63-linked ubiquitination;GO:0010837 regulation of keratinocyte proliferation;GO:0097400 interleukin-17-mediated signaling pathway;GO:0072538 T-helper 17 type immune response", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9H293-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBE4-1", "uniprot_id": "IL21_HUMAN", "mass": 18653.0, "length": 162, "protein_name": "Interleukin-21", "gene_name": "IL21", "organism": "Human", "refseq_name": "interleukin-21 isoform 2 precursor", "refseq_ac": "NP_001193935", "gene_names_uniprotkb": "IL21", "gene_names_refseq": "CVID11; IL-21; IL21; Za11", "protein_names_uniprotkb": "Interleukin-21; IL-21; Za11", "protein_names_refseq": "interleukin-21 isoform 2 precursor", "tax_id": 9606, "disease": "common variable immunodeficiency 11 (Disease Ontology:DOID:0081153); celiac disease (Disease Ontology:DOID:10608); anogenital venereal wart (Disease Ontology:DOID:11168); allergic disease (Disease Ontology:DOID:1205); dengue hemorrhagic fever (Disease Ontology:DOID:12206); autoimmune hepatitis (Disease Ontology:DOID:2048); asthma (Disease Ontology:DOID:2841); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); periodontal disease (Disease Ontology:DOID:3388); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); hepatocellular carcinoma (Disease Ontology:DOID:684); neuromyelitis optica (Disease Ontology:DOID:8869); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:59067); (R-HSA-9020958)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "11016959;11081504;11418623;12093291;12244150;12517932;12759422;15147560;15178704;17565991;17673207;22235133;24746753;27774606;37875903;37972478;38638431;39056553", "class_list": "", "function": "Cytokine with immunoregulatory activity. May promote the transition between innate and adaptive immunity. Induces the production of IgG(1) and IgG(3) in B-cells (By similarity). Implicated in the generation and maintenance of T follicular helper (Tfh) cells and the formation of germinal-centers. Together with IL6, control the early generation of Tfh cells and are critical for an effective antibody response to acute viral infection (By similarity). May play a role in proliferation and maturation of natural killer (NK) cells in synergy with IL15. May regulate proliferation of mature B- and T-cells in response to activating stimuli. In synergy with IL15 and IL18 stimulates interferon gamma production in T-cells and NK cells (PubMed:11081504, PubMed:15178704). During T-cell mediated immune response may inhibit dendritic cells (DC) activation and maturation (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; IL-21 rapidly induces mRNA synthesis for IFN-gamma, T-bet, IL-2 receptor alpha, IL-12 receptor beta 2, IL-18 receptor, and myeloid differentiation factor 88, the genes that are important in activating innate immunity and Th1 response in NK and T cells., [RefSeq, PubMed]; Interleukin-21 modulates balance between regulatory T cells and T-helper 17 cells in chronic hepatitis B virus infection. Publication Status: Online-Only, [RefSeq, PubMed]; Pro-inflammatory cytokine IL-21 correlates with the reactive oxygen species and 25-hydroxy vitamin D in rheumatoid arthritis patients., [RefSeq, PubMed]; The role of Interleukin-21 in autoimmune Diseases: Mechanisms, therapeutic Implications, and future directions. Review article, [RefSeq, PubMed]; Therapeutic potential of interleukin-21 in cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 14, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5J0L4", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005134 interleukin-2 receptor binding;GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0032740 positive regulation of interleukin-17 production;GO:0034105 positive regulation of tissue remodeling;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9HBE4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPF7-1", "uniprot_id": "IL23A_HUMAN", "mass": 20730.0, "length": 189, "protein_name": "Interleukin-23 subunit alpha", "gene_name": "IL23A", "organism": "Human", "refseq_name": "interleukin-23 subunit alpha precursor", "refseq_ac": "NP_057668", "gene_names_uniprotkb": "IL23A; PRO5798; SGRF", "gene_names_refseq": "IL-23A; IL-23; IL23A; IL23P19; P19; SGRF", "protein_names_uniprotkb": "Interleukin-23 subunit alpha; IL-23 subunit alpha; IL-23-A; IL-23p19; Interleukin-23 subunit p19", "protein_names_refseq": "IL-23 subunit alpha; IL-23-A; IL-23p19; JKA3 induced upon T-cell activation; interleukin 23 p19 subunit; interleukin 23, alpha subunit p19; interleukin-23 subunit alpha precursor; interleukin-23 subunit p19; interleukin-six, G-CSF related factor", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:51561); (R-HSA-6785807); (R-HSA-9020933)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10023775;10219247;10369418;10510379;10586089;10867011;11058569;11084045;11104795;11114383;11120780;11278437;11278729;11356008;11404481;11463377;11960372;12023369;12162874;12223527;12242343;12421946;12600988;12832402;12947981;12975309;14634100;14712222;15114670;15116091;15261459;15486065;15584925;15731058;15805299;15869882;15950906;16007214;16048438;16107692;16138901;16205632;16236134;16342235;16397018;16424222;16451196;16510571;16540365;16606674;16688182;16751425;17427945;17458857;17572495;17676044;18243101;18353781;18447642;18644974;18680750;18840671;19124156;19161421;19185846;19397496;20493732;20699468;21102457;21252155;21689689;21730069;21937440;21994466;22046235;22205702;22383755;22693070;22851691;23086340;23124025;23172665;23455323;23555662;23967200;24097101;24743777;25234944;25516297;25576301;26109132;26887945;28832583;29242379;29287995;30410026;31998317;32474165;32479512;33043033;33298915;33606986;33912179;35051231;38466035;38516774;38608446;38686385;38867048;7510216;7512451;7529288;7795521;7796300;7898939;7907877;8085155;8602263;8621622;8663118;8668165;8797861;8816495;9013879;9651359;9723655;9736340;9822675;9874564", "class_list": "", "function": "Associates with IL12B to form the pro-inflammatory cytokine IL-23 that plays different roles in innate and adaptive immunity (PubMed:11114383). Released by antigen-presenting cells such as dendritic cells or macrophages, binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R to activate JAK2 and TYK2 which then phosphorylate the receptor to form a docking site leading to the phosphorylation of STAT3 and STAT4 (PubMed:29287995, PubMed:32474165, PubMed:33606986). This process leads to activation of several pathways including p38 MAPK or NF-kappa-B and promotes the production of pro-inflammatory cytokines such as interleukin-17A/IL17A (PubMed:12023369). In turn, participates in the early and effective intracellular bacterial clearance (PubMed:32474165). Promotes the expansion and survival of T-helper 17 cells, a CD4-positive helper T-cell subset that produces IL-17, as well as other IL-17-producing cells (PubMed:17676044)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; CTLA-4-expressing ILC3s restrain interleukin-23-mediated inflammation., [RefSeq, PubMed]; Decreased HMGCS1 inhibits proliferation and inflammatory response of keratinocytes and ameliorates imiquimod-induced psoriasis via the STAT3/IL-23 axis., [RefSeq, PubMed]; Elevated expression of mRNA for IL-23(p19)was found in trigeminal ganglia of BALB/C mice infected with HSV-1 from early acute infection to the beginning of the latent phase., [RefSeq, PubMed]; IL-23 past, present, and future: a roadmap to advancing IL-23 science and therapy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; MiRNA-21 promotes the progression of acute liver failure via the KLF6/autophagy/IL-23 signaling pathway., [RefSeq, PubMed]; The Dysregulated IL-23/TH17 Axis in Endometriosis Pathophysiology., [RefSeq, PubMed]; This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q6NZ80;Q6NZ82;Q9H2A5", "ec_number_list": "", "go_molecular_function": "GO:0045519 interleukin-23 receptor binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0070743 interleukin-23 complex;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0051142 positive regulation of NK T cell proliferation;GO:0032693 negative regulation of interleukin-10 production;GO:0032740 positive regulation of interleukin-17 production;GO:0034105 positive regulation of tissue remodeling;GO:0051135 positive regulation of NK T cell activation", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q9NPF7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NWW0-1", "uniprot_id": "HPIP_HUMAN", "mass": 15291.0, "length": 138, "protein_name": "Host cell factor C1 regulator 1", "gene_name": "HCFC1R1", "organism": "Human", "refseq_name": "host cell factor C1 regulator 1 isoform 2", "refseq_ac": "NP_001002017", "gene_names_uniprotkb": "HCFC1R1; HPIP", "gene_names_refseq": "HCFC1R1; HPIP", "protein_names_uniprotkb": "Host cell factor C1 regulator 1; HCF-1 beta-propeller-interacting protein", "protein_names_refseq": "HCF-1 beta-propeller-interacting protein; host cell factor C1 regulator 1 (XPO1 dependent); host cell factor C1 regulator 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54985)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;12235138;19913121;20628086;24714562;25418920;25576301;25800793;26463629;26728094;26992070;27818289;28514659;28832583;28904123;29242379;29557506;29786170;30429286;31154438;31217245;31844290;31848261;32157095;32488085;32897882;32938616;33298915;33592498;34171305;34185709;35051231;35580925;36010968;37217939", "class_list": "", "function": "HPIP is upregulated in colorectal cancer and regulates colorectal cancer cell proliferation, apoptosis and invasion Publication Status: Online-Only, [RefSeq, PubMed]; HPIP overexpression is an independent predictor of platinum-based chemotherapy resistance in epithelial ovarian neoplasms., [RefSeq, PubMed]; HPIP promotes thyroid cancer cell growth, migration and epithelial mesenchymal transformation through activating PI3K/AKT signaling pathway., [RefSeq, PubMed]; HPIP regulates HCF-1 activity by modulating its subcellular localization, [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]; Regulates HCFC1 activity by modulating its subcellular localization. Overexpression of HCFC1R1 leads to accumulation of HCFC1 in the cytoplasm. HCFC1R1-mediated export may provide the pool of cytoplasmic HCFC1 required for import of virion-derived VP16 into the nucleus., [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": 0, "reported_mutagensis": 2, "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": "D3DUA7;Q68EN7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9NWW0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX55-2", "uniprot_id": "HYPK_HUMAN", "mass": 13651.0, "length": 121, "protein_name": "Huntingtin-interacting protein K", "gene_name": "HYPK", "organism": "Human", "refseq_name": "huntingtin-interacting protein K isoform 2", "refseq_ac": "NP_001186814", "gene_names_uniprotkb": "HYPK; C15orf63; HSPC136", "gene_names_refseq": "C15orf63; HSPC136; HYPK", "protein_names_uniprotkb": "Huntingtin-interacting protein K; Huntingtin yeast partner K", "protein_names_refseq": "huntingtin yeast partner K; huntingtin-interacting protein K isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25764)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "17947297;20068231;20154145;29754825;30779550;31154438;31530632;31848261;32042062;34836490;35857868;38657047;9700202", "class_list": "", "function": "Component of several N-terminal acetyltransferase complexes (PubMed:20154145, PubMed:29754825, PubMed:32042062). Inhibits the N-terminal acetylation activity of the N-terminal acetyltransferase NAA10-NAA15 complex (also called the NatA complex) (PubMed:29754825, PubMed:32042062). Has chaperone-like activity preventing polyglutamine (polyQ) aggregation of HTT in neuronal cells probably while associated with the NatA complex (PubMed:17947297, PubMed:20154145). May play a role in the NatA complex-mediated N-terminal acetylation of PCNP (PubMed:20154145)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; HYPK coordinates degradation of polyneddylated proteins by autophagy., [RefSeq, PubMed]; HYPK: A marginally disordered protein sensitive to charge decoration., [RefSeq, PubMed]; Phosphorylation of Arl4A/D promotes their binding by the HYPK chaperone for their stable recruitment to the plasma membrane., [RefSeq, PubMed]; The present study, has confirmed, by confocal microscopy and immunoprecipitation, that HYPK interacts with the N-terminal of Htt., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 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": "C9JKJ0;O75408;Q8WUW8;Q9P024", "ec_number_list": "", "go_molecular_function": "GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9NX55-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZH8-1", "uniprot_id": "IL36G_HUMAN", "mass": 18721.0, "length": 169, "protein_name": "Interleukin-36 gamma", "gene_name": "IL36G", "organism": "Human", "refseq_name": "interleukin-36 gamma isoform 2", "refseq_ac": "NP_001265497", "gene_names_uniprotkb": "IL36G; IL1E; IL1F9; IL1H1; IL1RP2; PRO5737", "gene_names_refseq": "IL-1F9; IL-1H1; IL-1RP2; IL1E; IL1F9; IL1H1; IL1RP2; IL36G", "protein_names_uniprotkb": "Interleukin-36 gamma; IL-1 epsilon; IL-1-related protein 2; IL-1F9; IL-1H1; IL-1RP2; Interleukin-1 epsilon; Interleukin-1 family member 9; Interleukin-1 homolog 1", "protein_names_refseq": "IL-1 related protein 2; IL-1-epsilon; interleukin 1-related protein 2; interleukin-1 epsilon; interleukin-1 family member 9; interleukin-1 homolog 1; interleukin-36 gamma isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56300); (R-HSA-9014826)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10744718;10860666;11237011;11466363;11991722;12975309;14734551;20870894;21965679;22315422;23095752;23147407;24829417;25673295;29314611;30804664;31154438;32272059;37285630;37545106;37827276;38262494;38301135", "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. 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. 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; also stimulates its own expression and that of the prototypic cutaneous pro-inflammatory parameters TNF, S100A7/psoriasin and inducible NOS. May play a role in pro-inflammatory responses during particular neutrophilic airway inflammation: activates mitogen-activated protein kinases and NF-kappa B in primary lung fibroblasts, and stimulates the expression of IL-8 and CXCL3 and Th17 chemokine CCL20 in lung fibroblasts. May be involved in the innate immune response to fungal pathogens, such as Aspergillus fumigatus., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human interleukin-36gamma plays a crucial role in cytokine induction during Sporothrix brasiliensis and S. schenckii infection in keratinocytes and PBMCs., [RefSeq, PubMed]; IL36G genetic variant is independently associated with susceptibility, severity and joint involvement in psoriasis., [RefSeq, PubMed]; Interleukin-36gamma Mediates the In Vitro Activation of CD8[+] T Cells from Patients Living with Chronic Human Immunodeficiency Virus-1 Infection., [RefSeq, PubMed]; Mature IL-36gamma Induces Stratum Corneum Exfoliation in Generalized Pustular Psoriasis by Suppressing Corneodesmosin. Erratum:[J Invest Dermatol. 2025 Feb;145(2):456. doi: 10.1016/j.jid.2024.04.002. PMID: 39078356], [RefSeq, PubMed]; Role of interleukin-36gamma induced by ultraviolet radiation in chronic actinic dermatitis., [RefSeq, PubMed]; The protein encoded by this gene is a member of the interleukin 1 cytokine family. The activity of this cytokine is mediated by interleukin 1 receptor-like 2 (IL1RL2/IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5/IL-1 delta). Interferon-gamma, tumor necrosis factor-alpha and interleukin 1, beta (IL1B) are reported to stimulate the expression of this cytokine in keratinocytes. The expression of this cytokine in keratinocytes can also be induced by a contact hypersensitivity reaction or herpes simplex virus infection. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, May 2019]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q56B91;Q6UVX7;Q7RTZ9", "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:0005829 cytosol", "go_biological_process": "GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007267 cell-cell signaling;GO:0045087 innate immune response;GO:0071222 cellular response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9NZH8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZI8-1", "uniprot_id": "IF2B1_HUMAN", "mass": 63481.0, "length": 577, "protein_name": "Insulin-like growth factor 2 mRNA-binding protein 1", "gene_name": "IGF2BP1", "organism": "Human", "refseq_name": "insulin-like growth factor 2 mRNA-binding protein 1 isoform 2", "refseq_ac": "NP_001153895", "gene_names_uniprotkb": "IGF2BP1; CRDBP; VICKZ1; ZBP1", "gene_names_refseq": "CRD-BP; CRDBP; IGF2BP1; IMP-1; IMP1; VICKZ1; ZBP1", "protein_names_uniprotkb": "Insulin-like growth factor 2 mRNA-binding protein 1; CRD-BP; Coding region determinant-binding protein; IGF-II mRNA-binding protein 1; IGF2 mRNA-binding protein 1; IMP-1; IMP1; VICKZ family member 1; ZBP-1; Zipcode-binding protein 1", "protein_names_refseq": "IGF-II mRNA-binding protein 1; IGF2 mRNA-binding protein 1; VICKZ family member 1; ZBP-1; coding region determinant-binding protein; insulin-like growth factor 2 mRNA binding protein 1 deltaN CRDBP; insulin-like growth factor 2 mRNA-binding protein 1 isoform 2; zipcode-binding protein 1", "tax_id": 9606, "disease": "acquired metabolic disease (Disease Ontology:DOID:0060158)", "pathway": " (hsa:10642); (R-HSA-428359); (R-HSA-5687128)", "pathway_count": 3, "publication_count": 150, "publication_id_list": "10.1101/2023.09.13.557529;10470034;10875929;10975528;11584266;11713986;11804587;12024010;12546821;12808096;12894594;12915405;12921532;15144186;15226418;15282548;15314207;15538386;15577943;15601260;16049158;16356927;16360641;16371649;16541107;16778892;16964243;16971392;16973613;17081983;17101699;17161475;17212783;17254968;17255263;17287340;17289661;17395884;17652133;17728103;17893325;17924679;17932509;17947239;18031682;18162290;18212344;18235225;18248330;18385235;18593949;18618095;18644862;18669648;18691976;18707149;18720373;19007248;19029303;19166925;19413330;19429674;19473979;19513348;19541769;19593530;19647520;19651622;19664995;20068231;20080952;20236090;20371350;20536836;20543837;20734105;20849292;21177870;21317288;21329875;21329882;21372320;22267219;22279049;22505454;22508986;22800433;23069990;23186163;23481700;23640942;23878308;24309468;24585635;25339975;25645385;25880248;26375851;26992070;28510447;28834231;29242379;29476152;29632046;30397120;30484775;32119511;32157095;32245947;32265295;32350084;32357974;32488085;32500232;32870666;32897882;32938616;33141586;33214551;33298915;33392160;33592498;33717175;33912179;34019948;34171305;34357683;35051231;35138101;35251023;35318648;36010968;36215666;36241641;36284347;37938771;38665916;39090761;39159608;39179895;39433965;7559638;7799959;8107774;8132663;9535855;9628874;9747882;9801297;9891060", "class_list": "", "function": "METTL3 and IGF2BP1-Mediated m6A Modification of ZHX2 Promotes Tumor Property of Renal Cell Carcinoma., [RefSeq, PubMed]; METTL3/IGF2BP1 influences the development of non-small-cell lung cancer by mediating m6A methylation modification of TRPV1., [RefSeq, PubMed]; RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Preferentially binds to N6-methyladenosine (m6A)-containing mRNAs and increases their stability (PubMed:29476152, PubMed:32245947). Plays a direct role in the transport and translation of transcripts required for axonal regeneration in adult sensory neurons (By similarity). Regulates localized beta-actin/ACTB mRNA translation, a crucial process for cell polarity, cell migration and neurite outgrowth. Co-transcriptionally associates with the ACTB mRNA in the nucleus. This binding involves a conserved 54-nucleotide element in the ACTB mRNA 3'-UTR, known as the 'zipcode'. The RNP thus formed is exported to the cytoplasm, binds to a motor protein and is transported along the cytoskeleton to the cell periphery. During transport, prevents ACTB mRNA from being translated into protein. When the RNP complex reaches its destination near the plasma membrane, IGF2BP1 is phosphorylated. This releases the mRNA, allowing ribosomal 40S and 60S subunits to assemble and initiate ACTB protein synthesis. Monomeric ACTB then assembles into the subcortical actin cytoskeleton (By similarity). During neuronal development, key regulator of neurite outgrowth, growth cone guidance and neuronal cell migration, presumably through the spatiotemporal fine tuning of protein synthesis, such as that of ACTB (By similarity). May regulate mRNA transport to activated synapses (By similarity). Binds to and stabilizes ABCB1/MDR-1 mRNA (By similarity). During interstinal wound repair, interacts with and stabilizes PTGS2 transcript. PTGS2 mRNA stabilization may be crucial for colonic mucosal wound healing (By similarity). Binds to the 3'-UTR of IGF2 mRNA by a mechanism of cooperative and sequential dimerization and regulates IGF2 mRNA subcellular localization and translation. Binds to MYC mRNA, in the coding region instability determinant (CRD) of the open reading frame (ORF), hence preventing MYC cleavage by endonucleases and possibly microRNA targeting to MYC-CRD (PubMed:29476152). Binding to MYC mRNA is enhanced by m6A-modification of the CRD (PubMed:29476152). Binds to the 3'-UTR of CD44 mRNA and stabilizes it, hence promotes cell adhesion and invadopodia formation in cancer cells. Binds to the oncofetal H19 transcript and to the neuron-specific TAU mRNA and regulates their localizations. Binds to and stabilizes BTRC/FBW1A mRNA. Binds to the adenine-rich autoregulatory sequence (ARS) located in PABPC1 mRNA and represses its translation. PABPC1 mRNA-binding is stimulated by PABPC1 protein. Prevents BTRC/FBW1A mRNA degradation by disrupting microRNA-dependent interaction with AGO2. Promotes the directed movement of tumor-derived cells by fine-tuning intracellular signaling networks. Binds to MAPK4 3'-UTR and inhibits its translation. Interacts with PTEN transcript open reading frame (ORF) and prevents mRNA decay. This combined action on MAPK4 (down-regulation) and PTEN (up-regulation) antagonizes HSPB1 phosphorylation, consequently it prevents G-actin sequestration by phosphorylated HSPB1, allowing F-actin polymerization. Hence enhances the velocity of cell migration and stimulates directed cell migration by PTEN-modulated polarization. Interacts with Hepatitis C virus (HCV) 5'-UTR and 3'-UTR and specifically enhances translation at the HCV IRES, but not 5'-cap-dependent translation, possibly by recruiting eIF3. Interacts with HIV-1 GAG protein and blocks the formation of infectious HIV-1 particles. Reduces HIV-1 assembly by inhibiting viral RNA packaging, as well as assembly and processing of GAG protein on cellular membranes. During cellular stress, such as oxidative stress or heat shock, stabilizes target mRNAs that are recruited to stress granules, including CD44, IGF2, MAPK4, MYC, PTEN, RAPGEF2 and RPS6KA5 transcripts., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RNA-binding protein IGF2BP1 is required for spermatogenesis in an age-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; The RNA-binding protein IGF2BP1 regulates stability of mRNA transcribed from FOXM1 target genes in hypermitotic meningiomas. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C9JT33", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0045182 translation regulator activity;GO:0048027 mRNA 5'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030027 lamellipodium;GO:0030426 growth cone", "go_biological_process": "GO:0010610 regulation of mRNA stability involved in response to stress;GO:0070934 CRD-mediated mRNA stabilization;GO:2000767 positive regulation of cytoplasmic translation;GO:0007399 nervous system development;GO:0140059 dendrite arborization", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "Q9NZI8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P0M4-1", "uniprot_id": "IL17C_HUMAN", "mass": 21765.0, "length": 197, "protein_name": "Interleukin-17C", "gene_name": "IL17C", "organism": "Human", "refseq_name": "interleukin-17C precursor", "refseq_ac": "NP_037410", "gene_names_uniprotkb": "IL17C; PRO1122", "gene_names_refseq": "CX2; IL-17C; IL17C", "protein_names_uniprotkb": "Interleukin-17C; Cytokine CX2; IL-17C", "protein_names_refseq": "cytokine CX2; interleukin-17C precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:27189); (R-HSA-448424)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10639155;11574464;11984595;12975309;16397230;16785495;19423540;19913121;21993848;21993849;23834281;34171305;35479098;36130829;37263138;38704381;8777726", "class_list": "", "function": "Asymptomatic SARS-CoV-2 Infection Is Associated With Higher Levels of Serum IL-17C, Matrix Metalloproteinase 10 and Fibroblast Growth Factors Than Mild Symptomatic COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Cytokine that plays a crucial role in innate immunity of the epithelium, including to intestinal bacterial pathogens, in an autocrine manner. Stimulates the production of antibacterial peptides and pro-inflammatory molecules for host defense by signaling through the NF-kappa-B and MAPK pathways. Acts synergically with IL22 in inducing the expression of antibacterial peptides, including S100A8, S100A9, REG3A and REG3G. Synergy is also observed with TNF and IL1B in inducing DEFB2 from keratinocytes. Depending on the type of insult, may have both protective and pathogenic properties, either by maintaining epithelial homeostasis after an inflammatory challenge or by promoting inflammatory phenotype. Enhanced IL17C/IL17RE signaling may also lead to greater susceptibility to autoimmune diseases., [UniProtKB, PubMed]; Expressed in multiple sclerosis brain lesions, [RefSeq, PubMed]; IL-17C is a driver of damaging inflammation during Neisseria gonorrhoeae infection of human Fallopian tube. Publication Status: Online-Only, [RefSeq, PubMed]; IL-17C neutralization protects the kidney against acute injury and chronic injury., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Th17-Derived Cytokines Synergistically Enhance IL-17C Production by the Colonic Epithelium., [RefSeq, PubMed]; The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [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": 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": "Q3MIG8;Q9HC75", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007166 cell surface receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0070534 protein K63-linked ubiquitination;GO:0072538 T-helper 17 type immune response", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9P0M4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P0W0-1", "uniprot_id": "IFNK_HUMAN", "mass": 25218.0, "length": 207, "protein_name": "Interferon kappa", "gene_name": "IFNK", "organism": "Human", "refseq_name": "interferon kappa precursor", "refseq_ac": "NP_064509", "gene_names_uniprotkb": "IFNK; PRO20084", "gene_names_refseq": "IFNK; IFNT1; INFE1", "protein_names_uniprotkb": "Interferon kappa; IFN-kappa", "protein_names_refseq": "IFN-kappa; interferon kappa precursor; interferon-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:56832)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11514542;12391192;12975309;15340161;32352019;34364883;35358091;36694223;36928117", "class_list": "", "function": "IFN-kappa Is a Rheostat for Development of Psoriasiform Inflammation., [RefSeq, PubMed]; IFN-kappa is able to directly modulate cytokine release from monocytes and dendritic cells, inhibit inducible IL-12 release from monocytes, and bind strongly to heparin., [RefSeq, PubMed]; IFN-kappa is critical for normal wound repair and is decreased in diabetic wounds. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon Kappa Is Important for Keratinocyte Host Defense against Herpes Simplex Virus-1. Publication Status: Online-Only, [RefSeq, PubMed]; Keratinocytes sense and eliminate CRISPR DNA through STING/IFN-kappa activation and APOBEC3G induction. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in the regulation of immune cell function. Cytokine that imparts cellular protection against viral infection in a species-specific manner. Activates the interferon-stimulated response element signaling pathway. It is able to directly modulate cytokine release from monocytes and dendritic cells. Binds heparin., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [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": "Q5T166", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002312 B cell activation involved in immune response;GO:0008285 negative regulation of cell population proliferation;GO:0051607 defense response to virus;GO:0006355 regulation of DNA-templated transcription;GO:0060337 type I interferon-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9P0W0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2X3-1", "uniprot_id": "IMPCT_HUMAN", "mass": 36476.0, "length": 320, "protein_name": "Protein IMPACT", "gene_name": "IMPACT", "organism": "Human", "refseq_name": "protein IMPACT", "refseq_ac": "NP_060909", "gene_names_uniprotkb": "IMPACT", "gene_names_refseq": "IMPACT; RWDD5", "protein_names_uniprotkb": "Protein IMPACT; Imprinted and ancient gene protein homolog", "protein_names_refseq": "Impact homolog; RWD domain containing 5; imprinted and ancient gene protein homolog; protein IMPACT", "tax_id": 9606, "disease": "", "pathway": " (hsa:55364); (R-HSA-9633012)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10982836;11018027;11116084;11237011;11244491;11677247;11691921;1400365;14630918;15385533;15752730;15775988;15781252;15871461;16026328;16989641;17267404;17726049;18285520;20237496;20361218;20648630;23269699;25418920;25576301;26992070;27526673;27600516;27607563;27862975;28832583;28904123;29393594;29413899;29557506;29632046;30379171;30429286;30804176;32157095;32357974;33592498;33912179;33968037;34171305;35580925;8336711;9211906", "class_list": "", "function": "Data suggest that high expression of protein IMPACT homolog in non-immune cells acts as a protective mechanism against indoleamine 2,3-dioxygenase (IDO)-induced GCN2 activation, making them resistant to the amino acid-deprived environment caused by IDO., [RefSeq, PubMed]; It thus seems that lineage-specific enhancement of gene expression rather than the tandem repeat per se played a critical role in the evolution of imprinting of Impact., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Segmental duplication followed by enhancement of the promoter activity is responsible for the species-specific imprinting of Impact, [RefSeq, PubMed]; Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1-mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4 synthesis. Through its inhibitory action on EIF2AK4/GCN2, plays a role in differentiation of neuronal cells by stimulating neurite outgrowth., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8MXG0;Q49AM0;Q9H2X4", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0043022 ribosome binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0035556 intracellular signal transduction;GO:0045666 positive regulation of neuron differentiation;GO:0006446 regulation of translational initiation;GO:0034198 cellular response to amino acid starvation", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9P2X3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHA7-1", "uniprot_id": "IL36A_HUMAN", "mass": 17684.0, "length": 158, "protein_name": "Interleukin-36 alpha", "gene_name": "IL36A", "organism": "Human", "refseq_name": "interleukin-36 alpha", "refseq_ac": "NP_055255", "gene_names_uniprotkb": "IL36A; FIL1E; IL1E; IL1F6", "gene_names_refseq": "FIL1(EPSILON); FIL1E; FIL1; IL-1F6; IL1(EPSILON); IL1F6; IL36A", "protein_names_uniprotkb": "Interleukin-36 alpha; FIL1 epsilon; IL-1 epsilon; IL-1F6; Interleukin-1 epsilon; Interleukin-1 family member 6", "protein_names_refseq": "FIL1 epsilon; IL-1 epsilon; IL-1F6 (FIL-1-epsilon); interleukin 1 family, member 6 (epsilon); interleukin-1 epsilon; interleukin-1 family member 6; interleukin-36 alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:27179); (R-HSA-9014826)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10625660;11466363;11991722;14734551;16777052;21881584;21965679;22315422;24829417;25673295;32272059;33392160;35698471;35903102;38189700;38203575", "class_list": "", "function": "Altered Gene Expression of IL-35 and IL-36alpha in the Skin of Patients with Atopic Dermatitis. Publication Status: Online-Only, [RefSeq, PubMed]; 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. 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. In cultured monocytes up-regulates expression of IL-1A, IL-1B and IL-6. In myeloid dendritic cells involved in cell maturation by up-regulating surface expression of CD83, CD86 and HLA-DR. In monocyte-derived dendritic cells facilitates dendritic cell maturation and drives T-cell proliferation. May play a role in pro-inflammatory effects in the lung., [UniProtKB, 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]; The protein encoded by this gene is a cytokine that can activate NF-kappa-B and MAPK signaling pathways to generate an inflammatory response. The encoded protein functions primarily in skin and demonstrates increased expression in psoriasis. In addition, decreased expression of this gene has been linked to a poor prognosis in both hepatocellular carcinoma and colorectal cancer patients. [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": "B2RAD9;Q53SR7;Q5BLR4;Q7RTZ8", "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": 1.7, "record_id": "Q9UHA7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHF5-1", "uniprot_id": "IL17B_HUMAN", "mass": 20437.0, "length": 180, "protein_name": "Interleukin-17B", "gene_name": "IL17B", "organism": "Human", "refseq_name": "interleukin-17B isoform 2", "refseq_ac": "NP_001304916", "gene_names_uniprotkb": "IL17B; IL20; NIRF; PRO1031; ZCYTO7", "gene_names_refseq": "IL-17B; IL-20; IL17B; NIRF; ZCYTO7", "protein_names_uniprotkb": "Interleukin-17B; Cytokine Zcyto7; IL-17B; IL-20; Interleukin-20; Neuronal interleukin-17-related factor", "protein_names_refseq": "cytokine-like protein ZCYTO7; interleukin 20; interleukin-17 beta; interleukin-17B isoform 2; neuronal interleukin-17 related factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:27190)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10639155;10749887;12975309;15713213;30770417;35570406;38033168", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our data reveal that analogous to other IL-17 family members, IL-17B has an inflammatory role in the human system., [RefSeq, PubMed]; Potential role of INTERLEUKIN-17 in the pathogenesis of oral lichen planus: a systematic review with META-analysis., [RefSeq, PubMed]; Stimulates the release of tumor necrosis factor alpha and IL-1-beta from the monocytic cell line THP-1., [UniProtKB]; The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. Alternative splicing results in multiple splice variants. [provided by RefSeq, Dec 2015]., [RefSeq]; Variants of IL6, IL10, FCN2, RNASE3, IL12B and IL17B loci are associated with Schistosoma mansoni worm burden in the Albert Nile region of Uganda. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q14CE5", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0032736 positive regulation of interleukin-13 production;GO:0032754 positive regulation of interleukin-5 production;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9UHF5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NNL0-1", "uniprot_id": "NTM2B_HUMAN", "mass": 93984.0, "length": 878, "protein_name": "NUT family member 2B", "gene_name": "NUTM2B", "organism": "Human", "refseq_name": "NUT family member 2B", "refseq_ac": "NP_001265424", "gene_names_uniprotkb": "NUTM2B; FAM22B", "gene_names_refseq": "FAM22B; NUTM2B; bA119F19.1", "protein_names_uniprotkb": "NUT family member 2B", "protein_names_refseq": "NUT family member 2B; family with sequence similarity 22, member B; protein FAM22B", "tax_id": 9606, "disease": "", "pathway": " (hsa:729262)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;22456610;26542179;26945340;32387766;37217939", "class_list": "", "function": "Studies show that patients with clear cell sarcoma of the kidney (CCSK) and the fusion YWHAE-NUTM2B/E were relatively young, had low tumor volumes, and did not present with stage I disease which fail to identify an explicit clinical phenotype., [RefSeq, PubMed]; Tumors with YWHAE-FAM22 rearrangements constitute a distinct group of endometrial stromal sarcoma (ESS), which is associated with high-grade morphology and aggressive clinical behavior compared to JAZF1 ESS., [RefSeq, PubMed]; We report recurrent BCOR exon 16 internal tandem duplications and YWHAE-NUTM2B fusions in half of infantile soft tissue undifferentiated round cell sarcoma and most primitive myxoid mesenchymal tumor of infancy cases, but not in other pediatric sarcomas., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NM73", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NNL0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MXV4-1", "uniprot_id": "NUD19_HUMAN", "mass": 42233.0, "length": 375, "protein_name": "Acyl-coenzyme A diphosphatase NUDT19", "gene_name": "NUDT19", "organism": "Human", "refseq_name": "acyl-coenzyme A diphosphatase NUDT19 precursor", "refseq_ac": "NP_001099040", "gene_names_uniprotkb": "NUDT19", "gene_names_refseq": "NUDT19; RP2", "protein_names_uniprotkb": "Acyl-coenzyme A diphosphatase NUDT19; 3.6.1.-; 3.6.1.77; Nucleoside diphosphate-linked moiety X motif 19; Nudix motif 19", "protein_names_refseq": "CTC-379B2.4; acyl-coenzyme A diphosphatase NUDT19 precursor; acyl-coenzyme A diphosphatase NUDT19; nucleoside diphosphate-linked moiety X motif 19, mitochondrial; nudix (nucleoside diphosphate linked moiety X)-type motif 19; nudix motif 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:390916); (R-HSA-390918); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10022913;10562279;10673331;10777549;11101887;11415433;11546814;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15545321;15858711;16185196;16854980;17007944;17726030;18359941;18712838;18799520;19197237;19208625;19584060;19632994;20178365;20877624;21554508;21976670;21980954;22002062;22057399;22371489;22544926;22747494;23481700;23963456;24235149;24535825;24715725;24865970;24905344;25016021;25418920;25505266;25538232;25576301;25854684;26086376;26138649;26154972;26220973;26344566;26992070;27597759;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28521612;28611990;28765278;28787099;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30429286;30524438;30833945;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33979257;33981976;34171305;34211107;34405274;34509645;35051231;35561310;35580925;36241641;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4'-phosphopantetheine and adenosine 3',5'-bisphosphate (By similarity). Mediates the hydrolysis of a wide range of CoA esters, including choloyl-CoA and branched-chain fatty-acyl-CoA esters and at low substrate concentrations medium and long-chain fatty-acyl-CoA esters are the primary substrates (By similarity). Highest activity seen with medium-chain acyl-CoA esters and higher rates of activity seen with the unsaturated acyl-CoA esters compared with the saturated esters (By similarity). Exhibits decapping activity towards dpCoA-capped RNAs in vitro (By similarity)., [UniProtKB, UniProtKB]; Isolation and functional characterization of the NUDT19 ortholog in mouse., [RefSeq, PubMed]; LncRNA LINC00958 Activates mTORC1/P70S6K Signalling Pathway to Promote Epithelial-Mesenchymal Transition Process in the Hepatocellular Carcinoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "3.6.1.-;3.6.1.77;3.1.2.2;3.1.2.27;3.1.2.1;3.1.2.11;3.1.2.3;3.1.2.5;6.2.1.3;6.2.1.-;6.2.1.7;6.2.1.24;6.2.1.15;2.3.1.42;1.3.3.6;2.3.2.27;1.1.1.42;1.11.1.6;3.4.24.56;1.4.3.3;2.6.1.51;2.6.1.44;2.3.1.176;2.3.1.16;2.3.1.155;2.3.2.36;1.14.13.39;4.1.3.4;2.3.1.137;2.3.1.7;3.6.1.17;5.3.3.21;2.3.1.65;3.4.21.-;1.5.3.13;3.4.21.53;3.6.1.62;3.6.1.64;1.4.3.1;1.1.1.184;1.3.1.38;1.3.1.124;3.6.1.9;3.6.1.68;3.6.1.76;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:0000287 magnesium ion binding;GO:0010945 coenzyme A diphosphatase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0009062 fatty acid catabolic process;GO:0036114 medium-chain fatty-acyl-CoA catabolic process;GO:2001294 malonyl-CoA catabolic process;GO:0015938 coenzyme A catabolic process;GO:0044580 butyryl-CoA catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "A8MXV4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C9JG80-1", "uniprot_id": "NPIB4_HUMAN", "mass": 126699.0, "length": 1138, "protein_name": "Nuclear pore complex-interacting protein family member B4", "gene_name": "NPIPB4", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "NPIPB4", "gene_names_refseq": "", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member B4", "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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "C9JG80-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N8D7-1", "uniprot_id": "NKAI3_HUMAN", "mass": 22620.0, "length": 197, "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3", "gene_name": "NKAIN3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "NKAIN3; FAM77D", "gene_names_refseq": "", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3; Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 3; Protein FAM77D", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:286183)", "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": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002028 regulation of sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N8D7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95158-1", "uniprot_id": "NXPH4_HUMAN", "mass": 33065.0, "length": 308, "protein_name": "Neurexophilin-4", "gene_name": "NXPH4", "organism": "Human", "refseq_name": "neurexophilin-4 precursor", "refseq_ac": "NP_009155", "gene_names_uniprotkb": "NXPH4; NPH4; PRO4403", "gene_names_refseq": "NPH4; NXPH4", "protein_names_uniprotkb": "Neurexophilin-4", "protein_names_refseq": "alternative protein NXPH4; neurexophilin-4 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:11247)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;24190977;25418920;26154972;26929215;26992070;27543614;28834231;29314611;29605689;30315122;31611695;31844290;32350084;32938616;34919637;35251023;35758021;37074911;9570794", "class_list": "", "function": "A novel EZH2/NXPH4/CDKN2A axis is involved in regulating the proliferation and migration of non-small cell lung cancer cells., [RefSeq, PubMed]; May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors., [UniProtKB]; Neurexophilin 4 is a prognostic biomarker correlated with immune infiltration in bladder 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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K4I4;Q7Z6L3;Q8N462", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005576 extracellular region", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0050804 modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O95158-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UM47-1", "uniprot_id": "NOTC3_HUMAN", "mass": 243631.0, "length": 2321, "protein_name": "Neurogenic locus notch homolog protein 3", "gene_name": "NOTCH3", "organism": "Human", "refseq_name": "neurogenic locus notch homolog protein 3 precursor", "refseq_ac": "NP_000426", "gene_names_uniprotkb": "NOTCH3", "gene_names_refseq": "CADASIL1; CADASIL; CARASIL1; CASIL; FPLD1; IMF2; LMNS; NOTCH3", "protein_names_uniprotkb": "Neurogenic locus notch homolog protein 3; Notch 3", "protein_names_refseq": "Notch homolog 3; neurogenic locus notch homolog protein 3 precursor; neurogenic locus notch homolog protein 3; notch 3", "tax_id": 9606, "disease": "autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (Disease Ontology:DOID:0061227); familial partial lipodystrophy type 1 (Disease Ontology:DOID:0070207); infantile myofibromatosis 2 (Disease Ontology:DOID:0070667); autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (Disease Ontology:DOID:0111035); lateral meningocele syndrome (Disease Ontology:DOID:0111343); intestinal cancer (Disease Ontology:DOID:10155); Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); brain cancer (Disease Ontology:DOID:1319); CADASIL (Disease Ontology:DOID:13945); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); adenocarcinoma (Disease Ontology:DOID:299); central nervous system cancer (Disease Ontology:DOID:3620); colorectal cancer (Disease Ontology:DOID:9256); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:4854); (R-HSA-1912399); (R-HSA-1912408); (R-HSA-1912420); (R-HSA-350054); (R-HSA-5083630); (R-HSA-9013507); (R-HSA-9013508); (R-HSA-9017802)", "pathway_count": 9, "publication_count": 175, "publication_id_list": "10.1101/2023.09.13.557529;10075724;10079256;10227618;10366590;10371548;10459009;10545110;10669757;10713164;10734111;10802807;10854111;10935626;10935637;10964718;11058919;11101851;11102981;11112321;11135303;11237011;11524432;11530204;11559313;11707585;11755616;11810186;11866432;12049766;12050117;12136071;12146805;12370315;12374742;12386158;12486116;12589106;12810003;1295745;14714274;14991602;15229130;15300988;15350543;15364702;15378071;15472075;15533827;15546612;15684396;15692013;15818833;16009764;16385447;16530045;16612405;16751179;17157496;17235124;17292860;17344417;17540598;17540599;17554337;17573339;1764995;17685488;17823410;18243100;18273901;18299578;1831692;18347015;18765654;18974129;19150886;19153638;19208840;19417009;19528524;19640841;19701457;19714243;19723635;19773441;20080834;20090754;20170518;20197277;20351093;20442293;20442780;20495621;20801121;20805998;21097675;21280156;21402699;21464368;21490058;21551231;21602795;21875955;22110129;22396495;23090970;23572112;23602593;23731542;24000151;24129315;24190977;24842903;25125655;25356737;25394726;25417103;25576301;25870235;26977885;27157619;27423596;27749937;27841855;28657654;29101237;29242379;29351928;29393594;29632711;30127001;30199759;30524438;31020640;31848261;31960911;32387766;32502341;32574038;32938616;32980981;32983136;33592498;33912179;34087483;34411563;35026854;35051231;35254053;35289036;35580925;36067866;36241641;37074911;37217939;37280231;37340703;38665916;39191170;39201482;39271666;39286249;39652711;7918097;8293978;8681805;8878478;9187150;9207795;9244302;9388399;9653148;9693032;9727485", "class_list": "", "function": "Clinical and neuroradiological spectrum of biallelic variants in NOTCH3., [RefSeq, PubMed]; Exploiting branched-chain amino acid metabolism and NOTCH3 expression to predict and target colorectal cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543, PubMed:14714274). Upon ligand activation through the released notch intracellular domain (NICD), it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke. Publication Status: Online-Only, [RefSeq, PubMed]; Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 200, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 16, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "Q9UEB3;Q9UPL3;Q9Y6L8", "ec_number_list": "", "go_molecular_function": "GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0050793 regulation of developmental process;GO:0006351 DNA-templated transcription;GO:0007219 Notch signaling pathway;GO:0048661 positive regulation of smooth muscle cell proliferation;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 20.5, "record_id": "Q9UM47-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15381-1", "uniprot_id": "NVL_HUMAN", "mass": 95051.0, "length": 856, "protein_name": "Nuclear valosin-containing protein-like", "gene_name": "NVL", "organism": "Human", "refseq_name": "nuclear valosin-containing protein-like isoform 3", "refseq_ac": "NP_001230075", "gene_names_uniprotkb": "NVL; NVL2", "gene_names_refseq": "NVL2; NVL", "protein_names_uniprotkb": "Nuclear valosin-containing protein-like; NVLp; Nuclear VCP-like protein", "protein_names_refseq": "NVLp; nuclear valosin-containing protein-like isoform 3; nuclear valosin-containing protein-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:4931)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12429849;15469983;16782053;18669648;19007248;19691289;19851296;20058876;20068231;21406692;21474449;22226966;23186163;23301498;24366607;24715725;25576301;25645385;26154972;26166824;26456651;26811146;26992070;27846572;27920218;28218747;28416111;28832583;28834231;28855257;29107693;29242379;29331515;29393594;29437277;29493099;29557506;29632046;30429286;31217245;31358741;31844290;32157095;32357974;32387766;32488085;32938616;32983136;33141586;33422691;33592498;33912179;33936100;33968037;34171305;34509645;35051231;35494241;35561310;35580925;36215666;36284347;37938771;40914422;9286697", "class_list": "", "function": "Data show that the nuclear exosome adaptors nuclear valosin-containing protein-like (NVL) and zinc finger, CCHC domain containing 8 protein (ZCCHC8) bind the Mtr4 exosome RNA helicase (MTR4) KOW domain on a surface. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction of NVL2 with ribosomal protein L5 is ATP-dependent and likely contributes to the nucleolar translocation of NVL2, [RefSeq, PubMed]; Interactome analysis of the Tudor domain-containing protein SPF30 which associates with the MTR4-exosome RNA-decay machinery under the regulation of AAA-ATPase NVL2., [RefSeq, PubMed]; Nuclear VCP/p97-like protein 2 might regulate the association/dissociation reaction of DOB1 with pre-ribosomal particles by acting as a molecular chaperone., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT (PubMed:22226966). Involved in both early and late stages of the pre-rRNA processing pathways (PubMed:26166824). Spatiotemporally regulates 60S ribosomal subunit biogenesis in the nucleolus (PubMed:15469983, PubMed:16782053, PubMed:26456651, PubMed:29107693). Catalyzes the release of specific assembly factors, such as WDR74, from pre-60S ribosomal particles through the ATPase activity (PubMed:26456651, PubMed:28416111, PubMed:29107693)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [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": 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": 15, "reported_mutagensis": 11, "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": "B4DMC4;B4DP98;Q96EM7", "ec_number_list": "", "go_molecular_function": "GO:1990275 preribosome binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0005697 telomerase holoenzyme complex", "go_biological_process": "GO:0032092 positive regulation of protein binding;GO:0042273 ribosomal large subunit biogenesis;GO:0042254 ribosome biogenesis;GO:0006364 rRNA processing;GO:1905323 telomerase holoenzyme complex assembly", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O15381-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15399-1", "uniprot_id": "NMDE4_HUMAN", "mass": 143752.0, "length": 1336, "protein_name": "Glutamate receptor ionotropic, NMDA 2D", "gene_name": "GRIN2D", "organism": "Human", "refseq_name": "glutamate receptor ionotropic, NMDA 2D precursor", "refseq_ac": "NP_000827", "gene_names_uniprotkb": "GRIN2D; GluN2D; NMDAR2D", "gene_names_refseq": "DEE46; EB11; EIEE46; GRIN2D; GluN2D; NMDAR2D; NR2D", "protein_names_uniprotkb": "Glutamate receptor ionotropic, NMDA 2D; EB11; GluN2D; Glutamate [NMDA] receptor subunit epsilon-4; N-methyl D-aspartate receptor subtype 2D; NMDAR2D; NR2D", "protein_names_refseq": "N-methyl D-aspartate receptor subtype 2D; N-methyl-d-aspartate receptor subunit 2D; estrogen receptor binding CpG island; glutamate [NMDA] receptor subunit epsilon-4; glutamate receptor ionotropic, NMDA 2D precursor; glutamate receptor ionotropic, NMDA 2D; glutamate receptor, ionotropic, N-methyl D-aspartate 2D", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); developmental and epileptic encephalopathy 46 (Disease Ontology:DOID:0080456); epilepsy (Disease Ontology:DOID:1826); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:2906); (R-HSA-438066); (R-HSA-442982); (R-HSA-5673001); (R-HSA-6794361); (R-HSA-8849932); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 9, "publication_count": 132, "publication_id_list": "10.1101/2023.09.13.557529;10373510;10508167;10869344;11027663;11090077;11136978;11313946;11546808;11604393;11702783;12032311;12094235;12121613;12807427;12815021;14506247;14622581;14707138;15356145;1545823;15540461;15546878;16242404;16495444;16624946;16627759;16630835;16684964;16846852;16959974;1716764;17855605;17897391;17997397;17998941;18227064;18775330;18812509;18829961;1898771;19279408;19681166;19920141;20064387;20064388;20478380;20519524;20600927;21102635;21282647;21372320;21779497;21779505;21993244;22569528;22589270;22750304;22833210;23103841;23303910;23443682;23481700;23575685;24190977;24897931;24937142;25219551;25378172;25781681;25892735;26085527;26321637;26875626;26992070;27616483;28095420;28126851;28449373;28778966;28832583;29437277;29557506;29786170;30484775;30590034;30833945;31135801;31530632;31844290;32157095;32161166;32387766;32502341;32897882;32938616;33392160;33968037;33981976;34185709;34509645;34561969;35051231;36215666;36241641;36959261;37084840;37511595;37794492;37982578;6148751;7569905;7695896;7736595;7809086;7935463;7972015;8052307;8394845;8493579;8576240;8601796;8665852;8710374;8939933;9069287;9489750;9604935;9648857;9808458;9927426;9927700", "class_list": "", "function": "Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:26875626, PubMed:27616483, PubMed:28126851, PubMed:9489750). Participates in synaptic plasticity for learning and memory formation (By similarity). Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:26875626, PubMed:27616483, PubMed:28126851, PubMed:9489750). NMDARs mediate simultaneously the potassium efflux and the influx of calcium and sodium (By similarity). Each GluN2 subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators (PubMed:26875626, PubMed:28095420, PubMed:28126851, PubMed:9489750)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; GRIN2D knockdown suppresses the progression of lung adenocarcinoma by regulating the E2F signalling pathway., [RefSeq, PubMed]; Multivariate GWAS of Alzheimer's disease CSF biomarker profiles implies GRIN2D in synaptic functioning. Publication Status: Online-Only, [RefSeq, PubMed]; N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010]., [RefSeq]; Potential Roles for the GluN2D NMDA Receptor Subunit in Schizophrenia. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The promoting effects of Grin2d expression in tumorigenesis and the aggressiveness of esophageal cancer., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 9835, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0022849 glutamate-gated calcium ion channel activity;GO:0004970 glutamate-gated receptor activity;GO:0016595 glutamate binding;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential;GO:0004972 NMDA glutamate receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0017146 NMDA selective glutamate receptor complex;GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0098976 excitatory chemical synaptic transmission;GO:0035235 ionotropic glutamate receptor signaling pathway;GO:0060079 excitatory postsynaptic potential;GO:2000463 positive regulation of excitatory postsynaptic potential;GO:0035249 synaptic transmission, glutamatergic", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "O15399-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43908-1", "uniprot_id": "NKG2F_HUMAN", "mass": 18234.0, "length": 158, "protein_name": "NKG2-F type II integral membrane protein", "gene_name": "KLRC4", "organism": "Human", "refseq_name": "NKG2-F type II integral membrane protein", "refseq_ac": "NP_038459", "gene_names_uniprotkb": "KLRC4; NKG2F", "gene_names_refseq": "KLRC4; NKG2-F; NKG2F", "protein_names_uniprotkb": "NKG2-F type II integral membrane protein; NK cell receptor F; NKG2-F-activating NK receptor", "protein_names_refseq": "NK cell receptor F; NKG2-F type II integral membrane protein; NKG2-F-activating NK receptor; killer cell lectin-like receptor subfamily C, member 4; natual killer cell group 2-F", "tax_id": 9606, "disease": "", "pathway": " (hsa:8302)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11751968;15140575;26097239;28706259;31502863;38237612;9394807;9598306;9683661", "class_list": "", "function": "CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 are bona fide susceptibility genes for Behcet's disease., [RefSeq, PubMed]; May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells., [UniProtKB]; NKG2F is expressed in NK cells and can associate with DAP12., [RefSeq, PubMed]; Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]., [RefSeq]; Novel Association of KLRC4-KLRK1 Gene Polymorphisms with Susceptibility and Progression of Antithyroid Drug-Induced Agranulocytosis., [RefSeq, PubMed]; Screening for the Biomarkers Associated with Myocardial Infarction by Bioinformatics Analysis., [RefSeq, PubMed]; This study demonstrates that the MBL2/rs1800450 and KLRC4/rs2617170 are susceptibility factors for Behcet's disease in a Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "O60851", "ec_number_list": "", "go_molecular_function": "GO:0062081 activating MHC class Ib receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0002228 natural killer cell mediated immunity;GO:0045954 positive regulation of natural killer cell mediated cytotoxicity;GO:0002223 stimulatory C-type lectin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O43908-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01303-1", "uniprot_id": "NPY_HUMAN", "mass": 10851.0, "length": 97, "protein_name": "Pro-neuropeptide Y", "gene_name": "NPY", "organism": "Human", "refseq_name": "pro-neuropeptide Y preproprotein", "refseq_ac": "NP_000896", "gene_names_uniprotkb": "NPY", "gene_names_refseq": "NPY; PYY4", "protein_names_uniprotkb": "Pro-neuropeptide Y; NPY; Neuropeptide tyrosine", "protein_names_refseq": "prepro-neuropeptide Y; pro-neuropeptide Y preproprotein; pro-neuropeptide Y", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); peripheral artery disease (Disease Ontology:DOID:0050830); absence epilepsy (Disease Ontology:DOID:0070309); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Huntington's disease (Disease Ontology:DOID:12858); dementia (Disease Ontology:DOID:1307); hypothyroidism (Disease Ontology:DOID:1459); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); status epilepticus (Disease Ontology:DOID:1824); anxiety disorder (Disease Ontology:DOID:2030); arteriosclerosis (Disease Ontology:DOID:2349); temporal lobe epilepsy (Disease Ontology:DOID:3328); cerebral infarction (Disease Ontology:DOID:3526); median neuropathy (Disease Ontology:DOID:571); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4852); (R-HSA-375276); (R-HSA-418594); (R-HSA-9615017)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10079109;10100623;10102273;10217147;10358014;10381885;10421367;10421368;10438732;10461880;10480625;10498338;10499587;10561544;10604470;10854085;10899166;10913147;11007482;11322507;11385580;11457843;11562423;11683476;11773063;11779849;12120503;12239572;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1321422;1325670;1337145;1346068;1383123;1425680;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16783365;16840535;16923326;1710450;1710578;17154253;1719979;1722333;18127230;18434541;1847994;18577758;19289742;21314817;21536589;23116540;23446738;23690594;24028821;24040102;2427515;24275569;24906252;2534964;2649896;2748346;27496565;27547294;2834384;3202875;3366244;35165283;35180645;3525564;35507650;36525977;3753985;37938771;3839058;3856870;38882210;39216475;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7593641;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;9008359;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9756788;9792798;9832121;9851594", "class_list": "", "function": "ABCA7-dependent induction of neuropeptide Y is required for synaptic resilience in Alzheimer's disease through BDNF/NGFR signaling., [RefSeq, PubMed]; In this review, we highlight recent evidences concerning paracrine/autocrine actions of NPY involved in neuroprotection, neurogenesis and neuroinflammation--{REVIEW}, [RefSeq, PubMed]; Ligand for neuropeptide Y receptor type 1 (NPY1R) and neuropeptide Y receptor type 2 (NPY2R) (PubMed:1321422, PubMed:7592910, PubMed:35165283, PubMed:35507650, PubMed:36525977, PubMed:38882210). Receptor binding induces adenylate cyclase-inhibiting G protein-coupled receptor signaling, resulting in inhibition of cAMP production (PubMed:1321422, PubMed:7592910, PubMed:38882210). Receptor activation by NPY also leads to an increase of intracellular Ca(2+) levels (PubMed:1321422, PubMed:35165283, PubMed:7592910). Is involved in the regulation of eating behaviour, acting as a stimulator of food intake (By similarity). Involved in the regulation of colonic antisecretory tone, and colonic contractility (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed]; NPY, via NPY Y5 and to a lesser extent via the Y1 receptors, exerts a stimulatory action on Ucn1 cells in the nonpreganglionic Edinger-Westphal nucleus., [RefSeq, PubMed]; Neuropeptide Y has fungicidal, antimicrobial activity against Candida albicans., [RefSeq, PubMed]; Neuropeptide y is widely expressed in the nervous system and has been shown to have a role in numerous physiologic processes--{REVIEW} Review article, [RefSeq, PubMed]; This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. The protein also exhibits antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 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": 4, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 19, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005102 signaling receptor binding;GO:0005246 calcium channel regulator activity;GO:0005184 neuropeptide hormone activity;GO:0031841 neuropeptide Y receptor binding", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0098992 neuronal dense core vesicle;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0032100 positive regulation of appetite;GO:1904000 positive regulation of eating behavior;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "P01303-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P03891-1", "uniprot_id": "NU2M_HUMAN", "mass": 38961.0, "length": 347, "protein_name": "NADH-ubiquinone oxidoreductase chain 2", "gene_name": "MT-ND2", "organism": "Human", "refseq_name": "NADH dehydrogenase subunit 2", "refseq_ac": "YP_003024027", "gene_names_uniprotkb": "MT-ND2; MTND2; NADH2; ND2", "gene_names_refseq": "MTND2; ND2", "protein_names_uniprotkb": "NADH-ubiquinone oxidoreductase chain 2; 7.1.1.2; NADH dehydrogenase subunit 2", "protein_names_refseq": "NADH dehydrogenase subunit 2", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); Parkinson's disease (Disease Ontology:DOID:14330); multiple sclerosis (Disease Ontology:DOID:2377); Leigh disease (Disease Ontology:DOID:3652); myocardial infarction (Disease Ontology:DOID:5844); mitochondrial metabolism disease (Disease Ontology:DOID:700); Leber hereditary optic neuropathy (Disease Ontology:DOID:705); Alzheimer disease, susceptibility to, mitochondrial (MONDO:MONDO:0100295)", "pathway": " (hsa:4536); (R-HSA-5419276); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9837999)", "pathway_count": 5, "publication_count": 127, "publication_id_list": "10327278;11130070;11220739;11695836;11923310;12198491;12231006;12611891;12837546;12840039;12949126;1327877;1370613;14623864;14741580;14760490;15250827;15522782;15870080;16115876;16230336;16996290;17033964;17101804;17297443;1732158;1757091;17579211;17803939;17936786;18429816;186667;18782833;1900003;19716793;19752196;19841671;20186120;20406883;20552642;20858599;21924235;22172991;22262461;22710082;23150584;23201127;23270816;23553477;23564345;23747254;23931759;239860;24191001;24315374;24520911;25233460;25564869;25678554;26154972;26504172;26923599;26992070;27496948;27499296;27626371;27642048;27846572;28377575;28396416;28904123;29301859;29437277;29932645;30120231;30410026;30429286;30484775;31327635;31666358;31695197;31866046;32157095;32320651;32357974;32387766;32488085;32897882;32938616;33257573;33298915;33392160;33592498;33879611;33882309;33912179;33968037;33981976;34087483;34171305;34357683;34509645;34704252;34943861;35051231;35333655;35614220;35870450;36010968;36215666;36241641;36302763;36596788;36629048;37141370;37938771;38199007;3921850;4288886;6260957;7219534;7530363;7623837;9461455;9475751;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:16996290). Essential for the catalytic activity and assembly of complex I (PubMed:16996290)., [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": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q34769;Q9TGI0;Q9TGI1;Q9TGI2;Q9TGI3;Q9TGI4", "ec_number_list": "7.1.1.2;3.6.5.5;7.1.1.9;3.6.5.-;3.1.1.29;2.1.1.-;1.-.-.-;2.1.1.320;3.4.24.-;3.6.-.-;1.3.8.7;1.3.8.8", "go_molecular_function": "GO:0019901 protein kinase binding;GO:0008137 NADH dehydrogenase (ubiquinone) activity;GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0001666 response to hypoxia;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": 12.8, "record_id": "P03891-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P03905-1", "uniprot_id": "NU4M_HUMAN", "mass": 51581.0, "length": 459, "protein_name": "NADH-ubiquinone oxidoreductase chain 4", "gene_name": "MT-ND4", "organism": "Human", "refseq_name": "NADH dehydrogenase subunit 4", "refseq_ac": "YP_003024035", "gene_names_uniprotkb": "MT-ND4; MTND4; NADH4; ND4", "gene_names_refseq": "MTND4; ND4", "protein_names_uniprotkb": "NADH-ubiquinone oxidoreductase chain 4; 7.1.1.2; NADH dehydrogenase subunit 4", "protein_names_refseq": "NADH dehydrogenase subunit 4", "tax_id": 9606, "disease": "Leber hereditary optic neuropathy and dystonia (Disease Ontology:DOID:0111755); Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); MELAS syndrome (Disease Ontology:DOID:3687); macular degeneration (Disease Ontology:DOID:4448); schizophrenia (Disease Ontology:DOID:5419); Leber hereditary optic neuropathy (Disease Ontology:DOID:705)", "pathway": " (hsa:4538); (R-HSA-5419276); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 4, "publication_count": 95, "publication_id_list": "10327278;11130070;11220739;11695836;12022039;12231006;12611891;12837546;12840039;12949126;1323207;1327877;1377597;14741580;14760490;15250827;16230336;17033964;1757091;17803939;17936786;18429816;186667;18782833;1959619;1959931;19716793;19752196;20186120;20406883;20552642;20818383;20858599;21924235;22172991;23150584;23270816;23553477;23564345;23747254;239860;24191001;24715725;25233460;25564869;25576301;25678554;26154972;26992070;27499296;27626371;27846572;28510447;28904123;29437277;29557506;30410026;30429286;31217245;31666358;31866046;3201231;32157095;32320651;32357974;32387766;32561536;32938616;33141586;33879611;33882309;33968037;34171305;34509645;34725712;35051231;35333655;35580925;35614220;36010968;36241641;36302763;36596788;37141370;37198654;38199007;3921850;4288886;6284948;7219534;8344246;8644732;9452107;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:15250827, PubMed:8344246, PubMed:8644732). Essential for the catalytic activity and assembly of complex I (PubMed:15250827, PubMed:8344246, PubMed:8644732)., [UniProtKB, PubMed, PubMed, PubMed]; Regulates mitochondrial respiration by decreasing oxygen consumption (PubMed:37198654). Also regulates reactive oxygen species homeostasis (PubMed:37198654)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6RL39;Q6RQN9;Q8HNR8", "ec_number_list": "7.1.1.2;7.1.1.9;3.6.5.-;3.1.1.29;2.1.1.-;1.-.-.-;2.1.1.320;1.3.8.7;1.3.8.8", "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity;GO:0048039 ubiquinone binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I;GO:0005576 extracellular region", "go_biological_process": "GO:0001701 in utero embryonic development;GO:0035094 response to nicotine;GO:0045471 response to ethanol;GO:0001666 response to hypoxia;GO:0032981 mitochondrial respiratory chain complex I assembly", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P03905-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C025-1", "uniprot_id": "NUD17_HUMAN", "mass": 35923.0, "length": 328, "protein_name": "m7GpppN-mRNA hydrolase NUDT17", "gene_name": "NUDT17", "organism": "Human", "refseq_name": "m7GpppN-mRNA hydrolase NUDT17", "refseq_ac": "NP_001012776", "gene_names_uniprotkb": "NUDT17", "gene_names_refseq": "NUDT17", "protein_names_uniprotkb": "m7GpppN-mRNA hydrolase NUDT17; 3.6.1.62; Nucleoside diphosphate-linked moiety X motif 17; Nudix motif 17", "protein_names_refseq": "m7GpppN-mRNA hydrolase NUDT17; nucleoside diphosphate-linked moiety X motif 17; nudix (nucleoside diphosphate linked moiety X)-type motif 17; nudix motif 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:200035)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "26992070;29242379;31844290;38756100", "class_list": "", "function": "Acts as a decapping enzyme capable of hydrolyzing monomethylated capped RNAs (in vitro). Hydrolyzes monomethylated capped RNA after alpha and beta phosphates to form N(7)-methyl-GDP. Shows low activity towards unmethylated capped RNA., [UniProtKB, UniProtKB]; Association between NUDT17 polymorphisms and breast cancer risk., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "3.6.1.59;3.6.1.52;3.6.1.62;3.6.1.10;3.6.1.61;3.6.1.64", "go_molecular_function": "GO:0046872 metal ion binding;GO:0035529 NADH pyrophosphatase activity;GO:0140933 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity", "go_cellular_component": "GO:0005777 peroxisome", "go_biological_process": "GO:0019677 NAD+ catabolic process;GO:0006742 NADP+ catabolic process;GO:0110154 RNA decapping", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0C025-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28331-1", "uniprot_id": "NDUS1_HUMAN", "mass": 79468.0, "length": 727, "protein_name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial", "gene_name": "NDUFS1", "organism": "Human", "refseq_name": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 2 precursor", "refseq_ac": "NP_001186910", "gene_names_uniprotkb": "NDUFS1", "gene_names_refseq": "CI-75Kd; CI-75k; MC1DN5; NDUFS1; PRO1304", "protein_names_uniprotkb": "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial; 7.1.1.2; CI-75kD; Complex I-75kD", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase); NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 2 precursor; complex I 75kDa subunit; complex I, mitochondrial respiratory chain, 75-kD subunit; mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit", "tax_id": 9606, "disease": "mitochondrial complex I deficiency (Disease Ontology:DOID:0060536); nuclear type mitochondrial complex I deficiency 5 (Disease Ontology:DOID:0112068); inherited metabolic disorder (Disease Ontology:DOID:655); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:4719); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 145, "publication_id_list": "10327278;11220739;11237011;11349233;11695836;11923310;12198491;12231006;12611891;12837546;1327877;14623864;14741580;15250827;15522782;15870080;16115876;16230336;17033964;17101804;17297443;17579211;17936786;186667;1935949;19752196;19841671;20068231;20406883;20552642;20858599;21654843;21924235;22262461;22499341;22710082;23150584;23201127;23270816;23301498;23553477;23564345;23747254;23931759;239860;24191001;24315374;24520911;24714562;25418920;25564869;25576301;25678554;25892735;26154972;26504172;26728094;26758079;26923599;26992070;27090790;27452731;27496948;27499296;27600516;27626371;27642048;28228285;28377575;28396416;28510447;28832583;28834231;28904123;29242379;29301859;29508533;29557506;29786170;29789417;29932645;30120231;30315122;30484775;30879903;31154438;31217245;31327635;31557978;31666358;31695197;31844290;31848261;31866046;32157095;32161166;32320651;32357974;32488085;32502341;32938616;32983136;33141586;33257573;33298915;33392160;33465208;33592498;33691108;33717175;33879611;33882309;33912179;33936100;33968037;34171305;34229054;34357683;34405274;34704252;34932366;34943861;35051231;35318648;35333655;35580925;35614220;35870450;36010968;36241641;36284347;36402252;36629048;36658121;37938771;38199007;38665916;38720274;40307207;40596516;40914422;4288886;7623837;9571201;9878551", "class_list": "", "function": "Association between NDUFS1 from urinary extracellular vesicles and decreased differential renal function in children with ureteropelvic junction obstruction. Publication Status: Online-Only, [RefSeq, PubMed]; 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:30879903, PubMed:31557978). Essential for catalysing the entry and efficient transfer of electrons within complex I (PubMed:31557978). Plays a key role in the assembly and stability of complex I and participates in the association of complex I with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978)., [UniProtKB, PubMed, PubMed]; Down regulation of NDUFS1 is involved in the progression of parenteral-nutrition-associated liver disease by increasing Oxidative stress., [RefSeq, PubMed]; PHB2 promotes colorectal cancer cell proliferation and tumorigenesis through NDUFS1-mediated oxidative phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]., [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": 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": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DIN9;B4DJA0;B4DPG1;B4DUC1;E7ENF3;Q53TR8;Q8N1C4;Q8TCC9", "ec_number_list": "7.1.1.2;2.3.3.1;3.6.4.10;1.4.1.3;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;1.2.4.1;1.8.1.4;5.6.1.7;2.3.1.168;2.3.1.-;2.3.1.37;4.98.1.1;1.1.1.38;2.3.1.9;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;1.1.1.37;5.3.3.8;1.3.8.1;1.3.8.5;1.1.1.42;3.1.2.2;1.1.1.41;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.7.11.2;2.7.11.-;3.4.21.92;1.1.1.35;2.7.1.23;2.1.1.-;1.-.-.-;2.1.1.320;6.2.1.-;6.2.1.4;5.6.2.3;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;1.3.8.7;1.3.8.8;6.1.1.5;2.3.1.41", "go_molecular_function": "GO:0009055 electron transfer activity;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0051537 2 iron, 2 sulfur cluster binding;GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix;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:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "P28331-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P40261-1", "uniprot_id": "NNMT_HUMAN", "mass": 29574.0, "length": 264, "protein_name": "Nicotinamide N-methyltransferase", "gene_name": "NNMT", "organism": "Human", "refseq_name": "nicotinamide N-methyltransferase", "refseq_ac": "NP_006160", "gene_names_uniprotkb": "NNMT", "gene_names_refseq": "NNMT", "protein_names_uniprotkb": "Nicotinamide N-methyltransferase; 2.1.1.1", "protein_names_refseq": "nicotinamide N-methyltransferase", "tax_id": 9606, "disease": "left ventricular failure (Disease Ontology:DOID:0051064); coronary artery disease (Disease Ontology:DOID:3393); renal cell carcinoma (Disease Ontology:DOID:4450); abdominal aortic aneurysm (Disease Ontology:DOID:7693)", "pathway": " (hsa:4837); (R-HSA-156581); (R-HSA-196807); (R-HSA-2408508)", "pathway_count": 4, "publication_count": 118, "publication_id_list": "10331075;10331643;10514445;10613898;10644686;10978155;11248244;11271497;11511179;11578145;11594753;11788603;11866528;11991719;12163696;12359228;12547821;12574164;12590576;12790796;13563527;13981612;14516279;1483038;14966140;15090606;15137942;15381699;15674325;15788214;16037612;16118205;16267626;1637327;16407288;16444005;16690024;1711890;17402747;17451884;17604275;17641676;17868694;17914902;18411268;18539146;19531469;19608861;20164179;20383543;20388704;21193388;2129526;21504897;21699903;21823666;21933152;21994945;22701565;22822066;23212377;23230272;2339986;23455543;24717514;24734162;24847004;25531177;25576301;26571212;27570878;27862975;28510447;29331515;29557506;29632711;29786170;30044909;30429286;31043742;31217245;31611695;31844290;31848261;32157095;32161166;32488085;32906142;32938616;33087354;33592498;33968037;34019948;34185709;35051231;35318648;35580925;36010968;36284347;37834386;37889548;37938771;38126621;38665916;38855943;39069579;4349867;6456763;7305945;8182091;8289818;8527488;8575745;8809081;8968737;9175157;9473669;9586999", "class_list": "", "function": "Catalyzes the N-methylation of nicotinamide using the universal methyl donor S-adenosyl-L-methionine to form N1-methylnicotinamide and S-adenosyl-L-homocysteine, a predominant nicotinamide/vitamin B3 clearance pathway (PubMed:21823666, PubMed:23455543, PubMed:8182091). Plays a central role in regulating cellular methylation potential, by consuming S-adenosyl-L-methionine and limiting its availability for other methyltransferases. Actively mediates genome-wide epigenetic and transcriptional changes through hypomethylation of repressive chromatin marks, such as H3K27me3 (PubMed:23455543, PubMed:26571212, PubMed:31043742). In a developmental context, contributes to low levels of the repressive histone marks that characterize pluripotent embryonic stem cell pre-implantation state (PubMed:26571212). Acts as a metabolic regulator primarily on white adipose tissue energy expenditure as well as hepatic gluconeogenesis and cholesterol biosynthesis. In white adipocytes, regulates polyamine flux by consuming S-adenosyl-L-methionine which provides for propylamine group in polyamine biosynthesis, whereas by consuming nicotinamide controls NAD(+) levels through the salvage pathway (By similarity). Via its product N1-methylnicotinamide regulates protein acetylation in hepatocytes, by repressing the ubiquitination and increasing the stability of SIRT1 deacetylase (By similarity). Can also N-methylate other pyridines structurally related to nicotinamide and play a role in xenobiotic detoxification (PubMed:30044909)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Lipid reprogramming induced by the NNMT-ABCA1 axis enhanced membrane fluidity to promote endometrial cancer progression., [RefSeq, PubMed]; N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008]., [RefSeq]; NNMT switches the proangiogenic phenotype of cancer-associated fibroblasts via epigenetically regulating ETS2/VEGFA axis., [RefSeq, PubMed]; NNMT/1-MNA Promote Cell-Cycle Progression of Breast Cancer by Targeting UBC12/Cullin-1-Mediated Degradation of P27 Proteins., [RefSeq, PubMed]; Nicotinamide N-Methyltransferase (NNMT) is Involved in Gastric Adenocarcinoma Immune Infiltration by Driving Amino Acid Metabolism., [RefSeq, PubMed]; Proteomics Profiling of Bladder Cancer Tissues from Early to Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early Detection and Prognosis of BCa. 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": 8, "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": "", "ec_number_list": "2.1.1.1;2.1.1.8;2.1.1.20", "go_molecular_function": "GO:0008112 nicotinamide N-methyltransferase activity;GO:0030760 pyridine N-methyltransferase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0019677 NAD+ catabolic process;GO:0032259 methylation;GO:0045722 positive regulation of gluconeogenesis;GO:0090312 positive regulation of protein deacetylation;GO:0006769 nicotinamide metabolic process", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "P40261-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P48745-1", "uniprot_id": "CCN3_HUMAN", "mass": 39162.0, "length": 357, "protein_name": "CCN family member 3", "gene_name": "CCN3", "organism": "Human", "refseq_name": "CCN family member 3 precursor", "refseq_ac": "NP_002505", "gene_names_uniprotkb": "CCN3; IGFBP9; NOVH; NOV", "gene_names_refseq": "CCN3; IBP-9; IGFBP-9; IGFBP9; NOVh; NOV", "protein_names_uniprotkb": "CCN family member 3; Cellular communication network factor 3; IBP-9; IGF-binding protein 9; IGFBP-9; Insulin-like growth factor-binding protein 9; Nephro blastoma-overexpressed gene protein homolog; NovH; Protein NOV homolog", "protein_names_refseq": "CCN family member 3 precursor; CCN family member 3; IGF-binding protein 9; insulin-like growth factor-binding protein 9; nephro blastoma-overexpressed gene protein homolog; nephroblastoma overexpressed; nephroblastoma-overexpressed gene protein homolog; protein NOV homolog", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591)", "pathway": " (hsa:4856)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;12050162;12665631;12695522;15181016;15213231;15340161;15611078;17463287;1756408;20139355;21063504;21344378;21871891;23090970;23584533;24190977;24722330;30379171;30429286;31848261;32157095;33946014;34828265;35051231;35289036;36499638;36737605;38987585;7520150;8622864;9927660", "class_list": "", "function": "A maternal brain hormone that builds bone., [RefSeq, PubMed]; CCN3 Proteins as a diagnostic marker in osteosarcoma patients: A case control study., [RefSeq, PubMed]; CCN3/NOV promotes metastasis and tumor progression via GPNMB-induced EGFR activation in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated Expression of CCN3 in Articular Cartilage Induces Osteoarthritis in Hip Joints Irrespective of Age and Weight Bearing. Publication Status: Online-Only, [RefSeq, PubMed]; Immediate-early protein playing a role in various cellular processes including proliferation, adhesion, migration, differentiation and survival (PubMed:12050162, PubMed:12695522, PubMed:15181016, PubMed:15611078, PubMed:21344378). Acts by binding to integrins or membrane receptors such as NOTCH1 (PubMed:12695522, PubMed:15611078, PubMed:21344378). Essential regulator of hematopoietic stem and progenitor cell function (PubMed:17463287). Inhibits myogenic differentiation through the activation of Notch-signaling pathway (PubMed:12050162). Inhibits vascular smooth muscle cells proliferation by increasing expression of cell-cycle regulators such as CDKN2B or CDKN1A independently of TGFB1 signaling (PubMed:20139355). Ligand of integrins ITGAV:ITGB3 and ITGA5:ITGB1, acts directly upon endothelial cells to stimulate pro-angiogenic activities and induces angiogenesis. In endothelial cells, supports cell adhesion, induces directed cell migration (chemotaxis) and promotes cell survival (PubMed:12695522). Also plays a role in cutaneous wound healing acting as integrin receptor ligand. Supports skin fibroblast adhesion through ITGA5:ITGB1 and ITGA6:ITGB1 and induces fibroblast chemotaxis through ITGAV:ITGB5. Seems to enhance bFGF-induced DNA synthesis in fibroblasts (PubMed:15611078). Involved in bone regeneration as a negative regulator (By similarity). Enhances the articular chondrocytic phenotype, whereas it repressed the one representing endochondral ossification (PubMed:21871891). Impairs pancreatic beta-cell function, inhibits beta-cell proliferation and insulin secretion (By similarity). Plays a role as negative regulator of endothelial pro-inflammatory activation reducing monocyte adhesion, its anti-inflammatory effects occur secondary to the inhibition of NF-kappaB signaling pathway (PubMed:21063504). Contributes to the control and coordination of inflammatory processes in atherosclerosis (By similarity). Attenuates inflammatory pain through regulation of IL1B- and TNF-induced MMP9, MMP2 and CCL2 expression. Inhibits MMP9 expression through ITGB1 engagement (PubMed:21871891). Brain osteoanabolic hormone (By similarity). Drives osteogenesis in osteochondral skeletal stem cells (PubMed:38987585). During lactation, maintains the maternal skeleton and viability of offspring (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NOV/CCN3 Promotes Cell Migration and Invasion in Intrahepatic Cholangiocarcinoma via miR-92a-3p. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B2R5X7;Q6I9S3;Q96BY5;Q9UDE4", "ec_number_list": "", "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0005112 Notch binding;GO:0005179 hormone activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031012 extracellular matrix", "go_biological_process": "GO:0071603 endothelial cell-cell adhesion;GO:1904057 negative regulation of sensory perception of pain;GO:0090027 negative regulation of monocyte chemotaxis;GO:0001525 angiogenesis;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P48745-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51513-4", "uniprot_id": "NOVA1_HUMAN", "mass": 51727.0, "length": 507, "protein_name": "RNA-binding protein Nova-1", "gene_name": "NOVA1", "organism": "Human", "refseq_name": "RNA-binding protein Nova-1 isoform 1", "refseq_ac": "NP_002506", "gene_names_uniprotkb": "NOVA1", "gene_names_refseq": "NOVA1; Nova-1", "protein_names_uniprotkb": "RNA-binding protein Nova-1; Neuro-oncological ventral antigen 1; Onconeural ventral antigen 1; Paraneoplastic Ri antigen; Ventral neuron-specific protein 1", "protein_names_refseq": "RNA-binding protein Nova-1 isoform 1; RNA-binding protein Nova-1; neuro-oncological ventral antigen 1; onconeural ventral antigen 1; paraneoplastic Ri antigen; ventral neuron-specific protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4857)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10368286;10811881;19413330;19664995;25418920;25645385;29557506;31844290;35051231;37775315;37816258;37887320;38416679;38657094;39966351;8398153;8558240", "class_list": "", "function": "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]; NOVA1 acts as an oncogenic RNA-binding protein to regulate cholesterol homeostasis in human glioblastoma cells., [RefSeq, PubMed]; Pattern of Brain Parenchymal Damage Related to Cerebral Small Vessel Disease in Carriers of Rare NOTCH3 Variants., [RefSeq, PubMed]; RNA-binding protein NOVA1 promotes acute T-lymphocyte leukemia progression by stabilizing USP44 mRNA., [RefSeq, PubMed]; RNA-binding protein which regulates alternative splicing of pre-mRNAs in the brain and spinal cord in a sequence-specific manner (By similarity). Binds to 5'-YCAY-3' repeats, with a minimum of 2 to 3 repeats necessary for high-affinity binding. Mediates both exon inclusion and exclusion, depending upon the position of its binding site within the pre-mRNA (PubMed:10811881). Binding to 5'-YCAY-3' clusters results in a local and asymmetric action to regulate spliceosome assembly. Binding to an exonic 5'-YCAY-3' cluster changes the protein complexes assembled on pre-mRNA, blocking U1 small nuclear ribonucleoprotein (snRNP) binding and inhibiting exon inclusion, whereas binding to an intronic 5'-YCAY-3' repeat enhances spliceosome assembly and favors exon inclusion (By similarity). Regulates the splicing of gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2) and glycine receptor subunit alpha-2 (GLRA2) pre-mRNAs, among others (By similarity). Autoregulates its own splicing. Binds to its own exon 4 and directs its exclusion, thus leading to NOVA1 isoform 3 production (By similarity). May affect the splicing of many genes involved in vocal behavior (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of FGF9 and NOVA1 in cancer-associated fibroblasts promotes cell proliferation, invasion and migration of triple negative breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K0S4;A8K4Q7;D3DS81;D3DS82;Q6B004", "ec_number_list": "", "go_molecular_function": "GO:1990825 sequence-specific mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006396 RNA processing;GO:0007399 nervous system development;GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "P51513-4", "record_type": "protein" }, { "uniprot_canonical_ac": "P53370-1", "uniprot_id": "NUDT6_HUMAN", "mass": 35679.0, "length": 316, "protein_name": "Nudix hydrolase 6", "gene_name": "NUDT6", "organism": "Human", "refseq_name": "nudix hydrolase 6 isoform a", "refseq_ac": "NP_009014", "gene_names_uniprotkb": "NUDT6; FGF2AS", "gene_names_refseq": "ASFGF2; FGF-AS; FGF2AS; GFG-1; GFG1; NUDT6", "protein_names_uniprotkb": "Nudix hydrolase 6; 3.6.1.18; 3.6.1.22; Antisense basic fibroblast growth factor; FAD diphosphatase NUDT6; NADH pyrophosphatase NUDT6; Nucleoside diphosphate-linked moiety X motif 6; Nudix motif 6; Protein GFG", "protein_names_refseq": "FAD diphosphatase NUDT6; NADH pyrophosphatase NUDT6; antisense basic fibroblast growth factor; nudix (nucleoside diphosphate linked moiety X)-type motif 6; nudix hydrolase 6 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:11162)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10022609;11237011;11266510;11801566;17569023;19416273;23481700;25576301;25892735;26811146;27846572;27920218;28832583;28904123;29242379;29789417;30429286;30779550;31154438;31844290;31848261;32157095;32357974;32502341;33537174;33912179;34185709;34211107;34561969;35580925;35705054;36010968;37343711;7984147", "class_list": "", "function": "FGF-2 exhibits antitumor activity in vitro and correlates with expression of FGF receptors expression in medulloblastoma cells, [RefSeq, PubMed]; Mediates the hydrolysis of some nucleoside diphosphate derivatives, such as NADH and FAD (in vitro) (PubMed:37343711). May contribute to the regulation of cell proliferation (PubMed:11266510)., [UniProtKB, PubMed, PubMed]; NUDT6 and NUDT9, two mitochondrial members of the NUDIX family, have distinct hydrolysis activities., [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K756;O95097;Q9UQD9", "ec_number_list": "3.6.1.22;3.6.1.18;2.7.7.2;3.6.1.-", "go_molecular_function": "GO:0047631 ADP-ribose diphosphatase activity;GO:0051287 NAD binding;GO:0035529 NADH pyrophosphatase activity;GO:0047884 FAD diphosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0045786 negative regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P53370-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14994-1", "uniprot_id": "NR1I3_HUMAN", "mass": 39942.0, "length": 352, "protein_name": "Nuclear receptor subfamily 1 group I member 3", "gene_name": "NR1I3", "organism": "Human", "refseq_name": "nuclear receptor subfamily 1 group I member 3 isoform 6", "refseq_ac": "NP_001070937", "gene_names_uniprotkb": "NR1I3; CAR", "gene_names_refseq": "CAR1; CAR; MB67; NR1I3", "protein_names_uniprotkb": "Nuclear receptor subfamily 1 group I member 3; CAR; Constitutive activator of retinoid response; Constitutive active response; Constitutive androstane receptor; Orphan nuclear receptor MB67", "protein_names_refseq": "constitutive activator of retinoid response; constitutive active receptor; constitutive active response; constitutive androstane receptor; nuclear receptor subfamily 1 group I member 3 isoform 6; orphan nuclear hormone receptor; orphan nuclear receptor MB67", "tax_id": 9606, "disease": "cholestasis (Disease Ontology:DOID:13580)", "pathway": " (hsa:9970)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;14573755;15194709;15610735;15618763;19858220;21873423;22726846;24252946;29557506;30361333;33392160;34504302;35184041;35212371;35367211;35494241;35580925;36284347;38128062;8114692;8603043", "class_list": "", "function": "Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element., [UniProtKB, UniProtKB, UniProtKB]; Distinct Roles of the Sister Nuclear Receptors PXR and CAR in Liver Cancer Development. Review article, [RefSeq, PubMed]; Human constitutive androstane receptor represses liver cancer development and hepatoma cell proliferation by inhibiting erythropoietin signaling., [RefSeq, PubMed]; Interaction with YAP underlies the species differences between humans and rodents in CAR-dependent hepatocyte proliferation., [RefSeq, PubMed]; Molecular basis of crosstalk in nuclear receptors: heterodimerization between PXR and CAR and the implication in gene regulation., [RefSeq, PubMed]; Polymorphisms at CYP enzymes, NR1I2 and NR1I3 in association with virologic response to antiretroviral therapy in Brazilian HIV-positive individuals., [RefSeq, PubMed]; This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. In addition to drug metabolism, the CAR protein is also reported to regulate genes involved in glucose metabolism, lipid metabolism, cell proliferation, and circadian clock regulation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2020]., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E9PB75;E9PC13;E9PDU3;E9PGH6;E9PH10;E9PHC8;E9PHN4;F1D8Q0;F1D8Q1;Q0VAC9;Q4U0F0;Q5VTW5;Q5VTW6;Q6GZ68;Q6GZ76;Q6GZ77;Q6GZ78;Q6GZ79;Q6GZ82;Q6GZ83;Q6GZ84;Q6GZ85;Q6GZ87;Q6GZ89", "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:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q14994-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q149M9-1", "uniprot_id": "NWD1_HUMAN", "mass": 174552.0, "length": 1564, "protein_name": "NACHT domain- and WD repeat-containing protein 1", "gene_name": "NWD1", "organism": "Human", "refseq_name": "NACHT domain- and WD repeat-containing protein 1 isoform 1", "refseq_ac": "NP_001007526", "gene_names_uniprotkb": "NWD1", "gene_names_refseq": "NWD1", "protein_names_uniprotkb": "NACHT domain- and WD repeat-containing protein 1", "protein_names_refseq": "NACHT and WD repeat domain-containing protein 1; NACHT domain- and WD repeat-containing protein 1 isoform 1; NACHT domain- and WD repeat-containing protein 1", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547)", "pathway": " (hsa:284434)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;24681825;25418920;28228285;29242379;29393594;29557506;29789417;31474551;31844290;32387766;35051231;35494241", "class_list": "", "function": "May play a role in the control of androgen receptor (AR) protein steady-state levels., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Our study contributes to the understanding of the biological role of Nwd1 at the synapse and the characterization of the beneficial effects of Nwd1 in the treatment of seizures., [RefSeq, PubMed]; Overexpression of NWD1 is associated with prostate cancer., [RefSeq, PubMed]; The protein encoded by this gene is thought to be a cytosolic protein and predicted to contain a NACHT domain and multiple WD40 repeats. Increased expression of this gene was observed in some prostate cancer cell lines. Knocking down expression of this gene results in decreased androgen receptor protein levels, indicating that this gene may be important in modulating androgen receptor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 29, "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": "C9J021;Q68CT3", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q149M9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5M9Q1-1", "uniprot_id": "NKAPL_HUMAN", "mass": 46312.0, "length": 402, "protein_name": "NKAP-like protein", "gene_name": "NKAPL", "organism": "Human", "refseq_name": "NKAP-like protein", "refseq_ac": "NP_001007532", "gene_names_uniprotkb": "NKAPL; C6orf194", "gene_names_refseq": "C6orf194; NKAPL; bA424I5.1", "protein_names_uniprotkb": "NKAP-like protein", "protein_names_refseq": "NKAP-like protein", "tax_id": 9606, "disease": "carcinoma (Disease Ontology:DOID:305)", "pathway": " (hsa:222698)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "19413330;22037552;23223422;24972756;25875095;26297123;27846572;28095483;31844290;33298915;33592498;35051231;36215666", "class_list": "", "function": "Fine-mapping analyses identified six NKAPL locus variants in a single haplotype block showing association with rheumatoid arthritis., [RefSeq, PubMed]; Further evidence for the involvement of NKAPL polymorphisms in the development of schizophrenia., [RefSeq, PubMed]; Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of NKAPL in germline stem cells demonstrated that Nkapl induced changes in spermatogonial stem cell (SSC) markers and the reduction of differentiation factors through the Notch signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Single nucleotide polymorphism in NKAPL is associated with atherosclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Study suggested that rs1635 in the NKAPL gene appeared to play a role in conferring susceptibility to schizophrenia, [RefSeq, PubMed]; Transcriptional repressor of Notch-mediated signaling. Required for spermatogenesis., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "Q3MIV1;Q9H4Q7", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5M9Q1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VXU1-1", "uniprot_id": "NKAI2_HUMAN", "mass": 23831.0, "length": 208, "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2", "gene_name": "NKAIN2", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 1", "refseq_ac": "NP_001035304", "gene_names_uniprotkb": "NKAIN2; FAM77B; TCBA1", "gene_names_refseq": "FAM77B; NKAIN2; NKAIP2; TCBA1; TCBA", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2; Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2; Protein FAM77B; T-cell lymphoma breakpoint-associated target protein 1", "protein_names_refseq": "Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 2; Na+/K+ transporting ATPase interacting 2; T-cell lymphoma breakpoint-associated target protein 1; sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 isoform 1; sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); prostate cancer (Disease Ontology:DOID:10283); cognitive disorder (Disease Ontology:DOID:1561); neuroblastoma (Disease Ontology:DOID:769)", "pathway": " (hsa:154215)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;11979551;15908570;19913121;24205241;27588475;28218747;28381166;29557506;31154438;31844290;34932366", "class_list": "", "function": "High levels of NKAIN2 were detected in the MYCN-amplified NB cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibiting miR-181d may suppress pancreatic cancer development, possibly through the inverse regulation on NKAIN2., [RefSeq, PubMed]; It is concluded that germline alterations of the TCBA1 gene are associated with developmental delay and typical physical features., [RefSeq, PubMed]; NKAIN2 is a novel tumor suppressor gene whose activity is commonly reduced in prostate cancer, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; T-cell lymphoma breakpoint associated target 1 is a possible target gene for T-cell lineage-specific chromosome aberrations at 6q21., [RefSeq, PubMed]; This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IYR4;Q8TF67", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002028 regulation of sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5VXU1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VZ03-1", "uniprot_id": "NXNL2_HUMAN", "mass": 17614.0, "length": 156, "protein_name": "Nucleoredoxin-like protein 2", "gene_name": "NXNL2", "organism": "Human", "refseq_name": "nucleoredoxin-like protein 2 isoform 1", "refseq_ac": "NP_001155097", "gene_names_uniprotkb": "NXNL2; C9orf121", "gene_names_refseq": "C9orf121; NXNL2; RDCVF2; RdCVF2L", "protein_names_uniprotkb": "Nucleoredoxin-like protein 2; RdCVF2; Rod-derived cone viability factor 2", "protein_names_refseq": "nucleoredoxin-like protein 2 isoform 1; nucleoredoxin-like protein 2; rod-derived cone viability factor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:158046)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "20949100;36010968;37084033;39894887", "class_list": "", "function": "May be involved in the maintenance of both the function and the viability of sensory neurons, including photoreceptors and olfactory neurons., [UniProtKB]; NXNL2 Promotes Colon Cancer Proliferation and Metastasis by Regulating AKT Pathway., [RefSeq, PubMed]; Regulation of the Nucleoredoxin-like genes involves a CRX responsive element that can act as both as a positive regulator of promoter activity and as a modulator of cell-type specificity Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AMD0;Q8TBG6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007601 visual perception;GO:0045494 photoreceptor cell maintenance;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5VZ03-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NXP6-1", "uniprot_id": "NXRD1_HUMAN", "mass": 39880.0, "length": 359, "protein_name": "NADP-dependent oxidoreductase domain-containing protein 1", "gene_name": "NOXRED1", "organism": "Human", "refseq_name": "NADP-dependent oxidoreductase domain-containing protein 1", "refseq_ac": "NP_001106946", "gene_names_uniprotkb": "NOXRED1; C14orf148", "gene_names_refseq": "C14orf148; NOXRED1", "protein_names_uniprotkb": "NADP-dependent oxidoreductase domain-containing protein 1; 1.-.-.-; Pyrroline-5-carboxylate reductase-like protein C14orf148", "protein_names_refseq": "NADP-dependent oxidoreductase domain-containing protein 1; pyrroline-5-carboxylate reductase-like protein C14orf148", "tax_id": 9606, "disease": "", "pathway": " (hsa:122945)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;29557506;31435991;35051231;39894887", "class_list": "", "function": "In the analysis of the genotype tissue expression (GTEx) project datasets, HAL rs17676826 C and NOXRED1 rs8012548 G alleles were significantly associated with their mRNA expression levels in sun-exposed skin of the lower leg (P = 6.62 x 10(-6) and 1.37 x 10(-7) , respectively) and in sun-not-exposed suprapubic skin (P < .001 and 1.43 x 10(-8) , respectively)., [RefSeq, PubMed]; Probable oxidoreductase., [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": 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": "B3KQ47;O95435", "ec_number_list": "", "go_molecular_function": "GO:0004735 pyrroline-5-carboxylate reductase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "", "go_biological_process": "GO:0055129 L-proline biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6NXP6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAU0-1", "uniprot_id": "NKX23_HUMAN", "mass": 38406.0, "length": 364, "protein_name": "Homeobox protein Nkx-2.3", "gene_name": "NKX2-3", "organism": "Human", "refseq_name": "homeobox protein Nkx-2.3", "refseq_ac": "NP_660328", "gene_names_uniprotkb": "NKX2-3; NKX23; NKX2C", "gene_names_refseq": "CSX3; NK2.3; NKX2-3; NKX2.3; NKX2C; NKX4-3", "protein_names_uniprotkb": "Homeobox protein Nkx-2.3; Homeobox protein NK-2 homolog C", "protein_names_refseq": "NK2 transcription factor related, locus 3; homeobox protein NK-2 homolog C; homeobox protein Nkx-2.3", "tax_id": 9606, "disease": "", "pathway": " (hsa:159296)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "17554261;25418920;28218747;29242379;30192525;33608382;34423028;34768865;37095209;38063211", "class_list": "", "function": "Development and Validation of an Autophagy-Related Signature for Head and Neck Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21). Publication Status: Online-Only, [RefSeq, PubMed]; NKL Homeobox Genes NKX2-3 and NKX2-4 Deregulate Megakaryocytic-Erythroid Cell Differentiation in AML. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Quantitative Analysis of NKX2-3 Expression in Human Colon: An Immunohistochemical Study., [RefSeq, PubMed]; This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]., [RefSeq]; Transcription factor Nkx2-3 maintains the self-renewal of hematopoietic stem cells by regulating mitophagy., [RefSeq, PubMed]; Transcription factor., [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": 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": "B4DUZ4;Q9NYS6", "ec_number_list": "", "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8TAU0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TB37-1", "uniprot_id": "NUBPL_HUMAN", "mass": 34083.0, "length": 319, "protein_name": "Iron-sulfur cluster transfer protein NUBPL", "gene_name": "NUBPL", "organism": "Human", "refseq_name": "iron-sulfur cluster transfer protein NUBPL isoform 2", "refseq_ac": "NP_001188502", "gene_names_uniprotkb": "NUBPL; C14orf127", "gene_names_refseq": "C14orf127; IND1; MC1DN21; NUBPL; huInd1", "protein_names_uniprotkb": "Iron-sulfur cluster transfer protein NUBPL; IND1 homolog; Nucleotide-binding protein-like; huInd1", "protein_names_refseq": "IND1 homolog; iron-sulfur cluster transfer protein NUBPL isoform 2; iron-sulfur cluster transfer protein NUBPL; iron-sulfur protein required for NADH dehydrogenase; nucleotide binding protein like", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 21 (Disease Ontology:DOID:0112088)", "pathway": " (hsa:80224); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11220739;11237011;17936786;19752196;20406883;20552642;20818383;20858599;20877624;21924235;22072591;23553477;24191001;25678554;27499296;27626371;31666358;31787496;31866046;32320651;32518176;33879611;33882309;35333655;35614220;36868263;38199007;9571201", "class_list": "", "function": "Expanding the Spectrum of NUBPL-Related Leukodystrophy. Review article, [RefSeq, PubMed]; Iron-sulfur cluster transfer protein involved in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:19752196). May deliver one or more Fe-S clusters to complex I subunits (PubMed:19752196)., [UniProtKB, PubMed]; Mutations in NUBPL is associated with complex I deficiency., [RefSeq, PubMed]; NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. Review article, [RefSeq, PubMed]; Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; These data identify huInd1 as a new assembly factor for human respiratory complex I with a possible role in the delivery of one or more Fe/S clusters to complex I subunits.[Ind1], [RefSeq, PubMed]; This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "B4DHZ1;Q86TZ4;Q9H9M2", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0140663 ATP-dependent FeS chaperone activity;GO:0051536 iron-sulfur cluster binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0007005 mitochondrion organization", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8TB37-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WTT2-1", "uniprot_id": "NOC3L_HUMAN", "mass": 92548.0, "length": 800, "protein_name": "Nucleolar complex protein 3 homolog", "gene_name": "NOC3L", "organism": "Human", "refseq_name": "nucleolar complex protein 3 homolog", "refseq_ac": "NP_071896", "gene_names_uniprotkb": "NOC3L; AD24; C10orf117; FAD24", "gene_names_refseq": "AD24; C10orf117; FAD24; NOC3L", "protein_names_uniprotkb": "Nucleolar complex protein 3 homolog; Factor for adipocyte differentiation 24; NOC3 protein homolog; NOC3-like protein; Nucleolar complex-associated protein 3-like protein", "protein_names_refseq": "NOC3 protein homolog; NOC3L DNA replication regulator; factor for adipocyte differentiation 24; nucleolar complex associated 3 homolog; nucleolar complex protein 3 homolog; nucleolar complex-associated protein 3-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64318)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "12429849;15564382;16565220;18669648;19007248;19664995;19690332;19691289;20068231;22796266;23186163;23481700;24146276;24715725;25418920;25576301;25880248;26154972;26992070;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;30429286;30524438;30741601;31217245;31844290;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34932366;35051231;35251023;35494241;35561310;35580925;36010968;36215666;36653889;37938771;40914422", "class_list": "", "function": "Fad24, a mammalian homolog of Noc3p, is a positive regulator in adipocyte differentiation., [RefSeq, PubMed]; Genome-Wide Association Study on Longitudinal Change in Fasting Plasma Glucose in Korean Population., [RefSeq, PubMed]; Knockdown of human NOC3 in HeLa cells abrogates the chromatin association of other pre-RC proteins including hCDC6 and hMCM, leading to DNA replication defects and eventual apoptosis in an abortive S-phase. Human NOC3 physically interacts with multiple human pre-replicative complex (pre-RC) proteins and associates with known replication origins throughout the cell cycle., [RefSeq, PubMed]; May be required for adipogenesis., [UniProtKB]; Results indicate the importance of four gastric cancer susceptibility polymorphisms of IL-10, NOC3L, PSCA and MTRR in the Chinese Han population., [RefSeq, PubMed]; We found PLCE1, C11orf92-C11orf93, and NOC3L associated with colorectal cancer susceptibility, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q9H5M6;Q9H9D8", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016607 nuclear speck", "go_biological_process": "GO:0006270 DNA replication initiation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q8WTT2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92570-1", "uniprot_id": "NR4A3_HUMAN", "mass": 68230.0, "length": 626, "protein_name": "Nuclear receptor subfamily 4 group A member 3", "gene_name": "NR4A3", "organism": "Human", "refseq_name": "nuclear receptor subfamily 4 group A member 3 isoform a", "refseq_ac": "NP_008912", "gene_names_uniprotkb": "NR4A3; CHN; CSMF; MINOR; NOR1; TEC", "gene_names_refseq": "CHN; CSMF; MINOR; NOR1; NR4A3", "protein_names_uniprotkb": "Nuclear receptor subfamily 4 group A member 3; Mitogen-induced nuclear orphan receptor; Neuron-derived orphan receptor 1; Nuclear hormone receptor NOR-1; Translocated in extraskeletal chondrosarcoma", "protein_names_refseq": "chondrosarcoma, extraskeletal myxoid, fused to EWS; mitogen-induced nuclear orphan receptor; neuron-derived orphan receptor 1; nuclear hormone receptor NOR-1; nuclear receptor subfamily 4 group A member 3 isoform a; translocated in extraskeletal chondrosarcoma", "tax_id": 9606, "disease": "Ewing sarcoma (Disease Ontology:DOID:3369); extraskeletal myxoid chondrosarcoma (Disease Ontology:DOID:4549)", "pathway": " (hsa:8013); (R-HSA-8936459)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10617663;12483298;12543801;12576332;16223362;16628190;18316480;19114653;19509293;20339092;20558821;20876458;21129147;21252065;21725049;22777353;24022864;25852083;26010396;26768311;27600516;29242379;29493099;29632711;30379171;30524438;31154438;32157095;32488085;32983136;33592498;33912179;35051231;37962027;38253038;38261254;38474099;38629274;39120703;40596516;8570200;8614405;8634690;8809112;9573341", "class_list": "", "function": "NOR1 promotes the osteoblastic differentiation of human periodontal ligament stem cells via TGF-beta signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; NRF1 Alleviated Oxidative Stress of Glioblastoma Cells by Regulating NOR1., [RefSeq, PubMed]; Orphan Nuclear Receptor Family 4A (NR4A) Members NR4A2 and NR4A3 Selectively Modulate Elements of the Monocyte Response to Buffered Hypercapnia. Publication Status: Online-Only, [RefSeq, PubMed]; Orphan Nuclear Receptor NR4A3 Promotes Vascular Calcification via Histone Lactylation., [RefSeq, PubMed]; Potential Roles of Nr4a3-Mediated Inflammation in Immunological and Neurological Diseases. Review article, [RefSeq, PubMed]; This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]; Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Induces gene expression by binding as monomers to the NR4A1 response element (NBRE) 5'-AAAAGGTCA-3' site and as homodimers to the Nur response element (NurRE) site in the promoter of their regulated target genes (By similarity). Plays a role in the regulation of proliferation, survival and differentiation of many different cell types and also in metabolism and inflammation. Mediates proliferation of vascular smooth muscle, myeloid progenitor cell and type B pancreatic cells; promotes mitogen-induced vascular smooth muscle cell proliferation through transactivation of SKP2 promoter by binding a NBRE site (By similarity). Upon PDGF stimulation, stimulates vascular smooth muscle cell proliferation by regulating CCND1 and CCND2 expression. In islets, induces type B pancreatic cell proliferation through up-regulation of genes that activate cell cycle, as well as genes that cause degradation of the CDKN1A (By similarity). Negatively regulates myeloid progenitor cell proliferation by repressing RUNX1 in a NBRE site-independent manner. During inner ear, plays a role as a key mediator of the proliferative growth phase of semicircular canal development (By similarity). Also mediates survival of neuron and smooth muscle cells; mediates CREB-induced neuronal survival, and during hippocampus development, plays a critical role in pyramidal cell survival and axonal guidance. Is required for S phase entry of the cell cycle and survival of smooth muscle cells by inducing CCND1, resulting in RB1 phosphorylation. Binds to NBRE motif in CCND1 promoter, resulting in the activation of the promoter and CCND1 transcription (By similarity). Also plays a role in inflammation; upon TNF stimulation, mediates monocyte adhesion by inducing the expression of VCAM1 and ICAM1 by binding to the NBRE consensus site (By similarity) (PubMed:20558821). In mast cells activated by Fc-epsilon receptor cross-linking, promotes the synthesis and release of cytokines but impairs events leading to degranulation (By similarity). Also plays a role in metabolism; by modulating feeding behavior; and by playing a role in energy balance by inhibiting the glucocorticoid-induced orexigenic neuropeptides AGRP expression, at least in part by forming a complex with activated NR3C1 on the AGRP- glucocorticoid response element (GRE), and thus weakening the DNA binding activity of NR3C1. Upon catecholamines stimulation, regulates gene expression that controls oxidative metabolism in skeletal muscle (By similarity). Plays a role in glucose transport by regulating translocation of the SLC2A4 glucose transporter to the cell surface (PubMed:24022864). Finally, during gastrulation plays a crucial role in the formation of anterior mesoderm by controlling cell migration. Inhibits adipogenesis (By similarity). Also participates in cardiac hypertrophy by activating PARP1 (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A2A3I7;Q12935;Q14979;Q16420;Q4VXA8;Q4VXA9;Q9UEK2;Q9UEK3", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0042803 protein homodimerization activity;GO:0035259 nuclear glucocorticoid receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0038097 positive regulation of mast cell activation by Fc-epsilon receptor signaling pathway;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q92570-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969Y0-1", "uniprot_id": "NXPE3_HUMAN", "mass": 63800.0, "length": 559, "protein_name": "NXPE family member 3", "gene_name": "NXPE3", "organism": "Human", "refseq_name": "NXPE family member 3 isoform 1 precursor", "refseq_ac": "NP_001127928", "gene_names_uniprotkb": "NXPE3; FAM55C; MSTP115; PRO19596", "gene_names_refseq": "FAM55C; MST115; MSTP115; NXPE3", "protein_names_uniprotkb": "NXPE family member 3; Protein FAM55C", "protein_names_refseq": "NXPE family member 3 isoform 1 precursor; NXPE family member 3; family with sequence similarity 55, member C", "tax_id": 9606, "disease": "", "pathway": " (hsa:91775)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;29242379;29769354;30484775;32157095;32387766;32938616;33298915;33592498;33968037;35051231", "class_list": "", "function": "This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 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": 23, "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": "A8K0X4;D3DN53;Q7Z2S8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q969Y0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CM4-1", "uniprot_id": "NXNL1_HUMAN", "mass": 23943.0, "length": 212, "protein_name": "Nucleoredoxin-like protein 1", "gene_name": "NXNL1", "organism": "Human", "refseq_name": "nucleoredoxin-like protein 1", "refseq_ac": "NP_612463", "gene_names_uniprotkb": "NXNL1; Rdcvf; TXNL6", "gene_names_refseq": "NXNL1; RDCVF; TXNL6", "protein_names_uniprotkb": "Nucleoredoxin-like protein 1; RdCVF; Rod-derived cone viability factor; Thioredoxin-like protein 6", "protein_names_refseq": "nucleoredoxin-like protein 1; rod-derived cone viability factor; thioredoxin-like 6; thioredoxin-like protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:115861)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "15220920;17249548;17286855;18474255;19402160;19843539;20949100;21079812;25957687;29557506", "class_list": "", "function": "CHX10 regulates RdCVF promoter activity in the inner retina., [RefSeq, PubMed]; Data suggest a critical role for TXNL6 in MsrA repair of essential lens proteins under oxidative stress conditions and that TXNL6 is important for MsrA defense protection against cataract. Publication Status: Online-Only, [RefSeq, PubMed]; Is a truncated thioredoxin-like protein specifically expressed by photoreceptors. The identification of this protein offers new treatment possibilities for retinitis pigmentosa, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays an important role in retinal cone photoreceptor survival (PubMed:25957687). In association with glucose transporter SLC16A1/GLUT1 and BSG, promotes retinal cone survival by enhancing aerobic glycolysis and accelerating the entry of glucose into photoreceptors (PubMed:25957687). May play a role in cone cell viability, slowing down cone degeneration, does not seem to play a role in degenerating rods (By similarity)., [UniProtKB, PubMed, UniProtKB]; RdCVF variants have roles in leber congenital amaurosis, [RefSeq, PubMed]; Regulation of the Nucleoredoxin-like genes involves a CRX responsive element that can act as both as a positive regulator of promoter activity and as a modulator of cell-type specificity Publication Status: Online-Only, [RefSeq, PubMed]; Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]., [RefSeq]; Study shows that RdCVF acts through binding to Basigin-1 (BSG1), a transmembrane protein expressed specifically by photoreceptors. BSG1 binds to the glucose transporter GLUT1, resulting in increased glucose entry into cones., [RefSeq, PubMed]; TXNL6 probably protects retinal cells from photooxidative damage-induced apoptosis via upregulation of NF-kappaB activity, [RefSeq, PubMed]; Thioredoxin-like protein that protects retinal rod and cone photoreceptors against oxidative stress and photo-oxidative damage. Plays a role in the inhibition of TAU phosphorylation and protects TAU against oxidative stress in the retina (By similarity). Acts as a reducing system for MSRA, facilitating the repair of oxidized proteins such as alpha-crystallin (CRYAA/CRYAB) and cytochrome c (CYCS) in the lens during oxidative stress conditions (PubMed:21079812)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q0QD37", "ec_number_list": "", "go_molecular_function": "GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0045494 photoreceptor cell maintenance;GO:0045454 cell redox homeostasis;GO:0080183 response to photooxidative stress", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q96CM4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99463-1", "uniprot_id": "NPY6R_HUMAN", "mass": 33180.0, "length": 290, "protein_name": "Putative neuropeptide Y receptor type 6", "gene_name": "NPY6RP", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "NPY6RP; NPY1RL; NPY6R; Y2B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative neuropeptide Y receptor type 6; NPY Y1-like receptor; NPY6-R; PP2; Putative pancreatic polypeptide receptor 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "28411811;34087483;8910290;8910373;9013614", "class_list": "", "function": "When expressed, is unable to bind pancreatic polypeptide (PP), neuropeptide Y (NPY), or peptide YY (PYY), suggesting that either it is functionally inactive or that it may have acquired a pancreatic polypeptide-independent function., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "D3DQB4", "ec_number_list": "", "go_molecular_function": "GO:0008188 neuropeptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043005 neuron projection", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q99463-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99466-1", "uniprot_id": "NOTC4_HUMAN", "mass": 209622.0, "length": 2003, "protein_name": "Neurogenic locus notch homolog protein 4", "gene_name": "NOTCH4", "organism": "Human", "refseq_name": "neurogenic locus notch homolog protein 4 preproprotein", "refseq_ac": "NP_004548", "gene_names_uniprotkb": "NOTCH4; INT3", "gene_names_refseq": "INT3; NOTCH4", "protein_names_uniprotkb": "Neurogenic locus notch homolog protein 4; Notch 4; hNotch4", "protein_names_refseq": "Notch homolog 4; neurogenic locus notch homolog protein 4 preproprotein; notch 4", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); Alzheimer's disease (Disease Ontology:DOID:10652); dementia (Disease Ontology:DOID:1307); endometrial cancer (Disease Ontology:DOID:1380); arteriosclerosis (Disease Ontology:DOID:2349); multiple sclerosis (Disease Ontology:DOID:2377); hemangiopericytoma (Disease Ontology:DOID:264); systemic scleroderma (Disease Ontology:DOID:418); hemangioblastoma (Disease Ontology:DOID:5241); schizophrenia (Disease Ontology:DOID:5419); rheumatoid arthritis (Disease Ontology:DOID:7148); type 1 diabetes mellitus (Disease Ontology:DOID:9744); alopecia areata (Disease Ontology:DOID:986)", "pathway": " (hsa:4855); (R-HSA-1912399); (R-HSA-1912408); (R-HSA-1912420); (R-HSA-350054); (R-HSA-5083630); (R-HSA-9013695); (R-HSA-9013700); (R-HSA-9604323)", "pathway_count": 9, "publication_count": 103, "publication_id_list": "10075724;10079256;10366590;10459009;10545110;10669757;10713164;10734111;10935626;10935637;11101851;11112321;11119607;11135303;11524432;11530204;11707585;12049766;12050117;12370315;12374742;12486116;1295745;14672936;14991602;15472075;15531924;15546612;15684396;15692013;16385447;16530045;16612405;16751179;17157496;17344417;17540598;17540599;17554337;1764995;17685488;17823410;18239137;18243100;1831692;18347015;18452278;19150886;19701457;19714243;19723635;19773441;20080834;20090754;20170518;20197277;20351093;20442293;20442780;20495621;20801121;20804727;20805998;21097675;21280156;21402699;21464368;21490058;21551231;21602795;21875955;22110129;24715725;25740432;26387946;26801977;26977885;29101237;29146722;29557506;30459171;32350084;32938616;33091337;34411563;34509645;35051231;35251023;37268635;37478314;37544578;38811818;7918097;8293978;8681805;8878478;9168133;9187150;9207795;9244302;9653148;9693032;9727485", "class_list": "", "function": "Association of NOTCH4 and ACHE gene polymorphism in Alzheimer's disease of Gujarat cohort., [RefSeq, PubMed]; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. May regulate branching morphogenesis in the developing vascular system (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Inhibition of NOTCH4 sensitizes FLT3/ITD acute myeloid leukemia cells to FLT3 tyrosine kinase inhibition., [RefSeq, PubMed]; NOTCH4 potentiates the IL-13 induced genetic program in M2 alternative macrophages through the AP1 and IRF4-JMJD3 axis., [RefSeq, PubMed]; NOTCH4[DeltaL12_16] sensitizes lung adenocarcinomas to EGFR-TKIs through transcriptional down-regulation of HES1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 8, "predicted_n_glycosites": 4, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 127, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 14, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B0V183;B0V1X5;O00306;Q5SSY7;Q99458;Q99940;Q9H3S8;Q9UII9;Q9UIJ0", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0005509 calcium ion binding;GO:0005112 Notch binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q99466-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99608-1", "uniprot_id": "NECD_HUMAN", "mass": 36086.0, "length": 321, "protein_name": "Necdin", "gene_name": "NDN", "organism": "Human", "refseq_name": "necdin", "refseq_ac": "NP_002478", "gene_names_uniprotkb": "NDN", "gene_names_refseq": "HsT16328; NDN; PWCR", "protein_names_uniprotkb": "Necdin", "protein_names_refseq": "Prader-Willi syndrome chromosome region; necdin homolog; necdin, melanoma antigen (MAGE) family member; necdin-like protein; necdin", "tax_id": 9606, "disease": "Prader-Willi syndrome (Disease Ontology:DOID:11983)", "pathway": " (hsa:4692); (R-HSA-6785807)", "pathway_count": 2, "publication_count": 117, "publication_id_list": "10023775;10219247;10369418;10510379;10586089;10867011;11058569;11084045;11104795;11120780;11278437;11278729;11356008;11404481;11463377;11960372;12223527;12242343;12600988;12832402;14634100;14712222;15116091;15247330;15261459;15584925;15805299;15869882;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16451196;16510571;16540365;16606674;17427945;17458857;17572495;18243101;18353781;18447642;18644974;19124156;19185846;19397496;20493732;21102457;21252155;21543378;21689689;21730069;21937440;21994466;22046235;22205702;22383755;22693070;22851691;22869377;23086340;23124025;23172665;23455323;23555662;23967200;24097101;24743777;25234944;25576301;26154972;27846572;27862975;29493099;29557506;30429286;31154438;31844290;31848261;32157095;32488085;32529326;32938616;32983136;33592498;33936100;34171305;35051231;35580925;36284347;37938771;7510216;7512451;7529288;7795521;7796300;7898939;7907877;8085155;8602263;8621622;8663118;8668165;8797861;8816495;9013879;9302265;9354807;9630521;9651359;9723655;9736340;9822675;9874564", "class_list": "", "function": "Growth suppressor that facilitates the entry of the cell into cell cycle arrest. Functionally similar to the retinoblastoma protein it binds to and represses the activity of cell-cycle-promoting proteins such as SV40 large T antigen, adenovirus E1A, and the transcription factor E2F. Necdin also interacts with p53 and works in an additive manner to inhibit cell growth. Also functions as a transcription factor and directly binds to specific guanosine-rich DNA sequences (By similarity)., [UniProtKB]; The necdin gene is imprinted, with preferential expression from the paternal allele in human and mouse., [RefSeq, PubMed]; The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry., [RefSeq, PubMed]; This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008]., [RefSeq]; Tissue-specific gene expression regulation and imprinted epigenetic modifications of the human NDN gene. 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R6Z5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0043015 gamma-tubulin binding;GO:1990841 promoter-specific chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0043204 perikaryon", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q99608-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99733-1", "uniprot_id": "NP1L4_HUMAN", "mass": 42823.0, "length": 375, "protein_name": "Nucleosome assembly protein 1-like 4", "gene_name": "NAP1L4", "organism": "Human", "refseq_name": "nucleosome assembly protein 1-like 4 isoform 1", "refseq_ac": "NP_005960", "gene_names_uniprotkb": "NAP1L4; NAP2", "gene_names_refseq": "NAP1L4b; NAP1L4; NAP2L; NAP2; hNAP2", "protein_names_uniprotkb": "Nucleosome assembly protein 1-like 4; Histone chaperone NAP1L4; NAP-2; Nucleosome assembly protein 2", "protein_names_refseq": "NAP-2; histone chaperone NAP1L4; nucleosome assembly protein 1-like 4 isoform 1; nucleosome assembly protein 1-like 4b; nucleosome assembly protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:4676)", "pathway_count": 1, "publication_count": 108, "publication_id_list": "10764593;11237011;12939341;15368365;16565220;17081983;17287340;17322306;17924679;18318008;18452278;18510355;18669648;18767875;19007248;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20230923;21136679;21406692;21872626;22223895;23186163;23481700;23783831;24714562;25576301;25645385;25892735;26154972;26375851;26728094;26768311;26992070;27543614;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28649982;28687276;28832583;28834231;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30833945;31154438;31217245;31222486;31530632;31634504;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33214551;33583643;33633747;33691108;33717175;33968037;33981976;34019948;34120636;34357683;34509645;34561969;34725712;35051231;35580925;36010968;36215666;36241641;36284347;37938771;38665916;40914422;8923002;9325046", "class_list": "", "function": "Acts as a histone chaperone in nucleosome assembly., [UniProtKB, PubMed]; Knockdown of NAP1L1 suppresses IkappaBalpha degradation and nuclear transport of p65 subunit after treatment with TNF-a stimulation, leading to attenuation of the NF-kappaB transcriptional activity, whereas NAP1L4 knockdown remains silent.results of this study suggest that NAP1L1 downregulation renders the cell vulnerable to apoptotic cell death through attenuation of NF-kappaB transcriptional activity on the anti-apop..., [RefSeq, PubMed]; NAP-2 is in complex(es) with other proteins, which are distinct from histones, [RefSeq, PubMed]; Nucleosome assembly protein 1-like 4, a new therapeutic target for proliferation and invasion of melanoma cells., [RefSeq, PubMed]; Positive natural selection of N6-methyladenosine on the RNAs of processed pseudogenes. Publication Status: Online-Only, [RefSeq, PubMed]; The NAP1L4 regulates cell fate by controlling the expression of p53-responsive proarrest and proapoptotic genes through selective modulation of p53 acetylation at specific sites during normal homeostasis and in stress-induced responses., [RefSeq, PubMed]; This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [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": 13, "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": "B2R6J4;F5HFY4", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0051082 unfolded protein binding;GO:0042393 histone binding;GO:0031491 nucleosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q99733-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBY0-1", "uniprot_id": "NOX3_HUMAN", "mass": 64935.0, "length": 568, "protein_name": "NADPH oxidase 3", "gene_name": "NOX3", "organism": "Human", "refseq_name": "NADPH oxidase 3", "refseq_ac": "NP_056533", "gene_names_uniprotkb": "NOX3; MOX2", "gene_names_refseq": "GP91-3; MOX-2; NOX3", "protein_names_uniprotkb": "NADPH oxidase 3; 1.6.3.-; GP91-3; MOX-2; Mitogenic oxidase 2; gp91phox homolog 3", "protein_names_refseq": "NADPH oxidase 3; NADPH oxidase catalytic subunit-like 3; gp91phox homolog 3; mitogenic oxidase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:50508); (R-HSA-5668599); (R-HSA-9013149); (R-HSA-9013423)", "pathway_count": 4, "publication_count": 256, "publication_id_list": "10072071;10232922;10400704;10455184;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10873802;10958683;10974555;11007481;11058585;11085924;11090627;11145705;11149925;11373293;11376945;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11956649;11961559;12056906;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12716910;12857875;12877655;12923183;14512443;14514689;14530365;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15181005;15302923;15339924;15342493;15485661;15507211;15579468;15591124;15601624;15611138;15728722;15824103;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16243036;16329988;16473593;16492808;16507994;16519628;1660188;16636067;16702231;16762923;16777452;16777849;16778989;16862148;16896804;16914516;16968698;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18653540;18697831;18838382;19269969;19372727;19494238;19534724;19605563;19673492;19713215;19934221;20400958;20460433;20679435;20810653;20813901;20956805;21148482;21239714;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22808130;22970203;23209303;23255595;23288169;23289851;23434736;23572525;23707487;23718289;23875749;23940355;23980663;24086303;24259668;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25428919;25439478;25704760;25721503;25795300;25862245;25877926;26129894;26529257;26628301;26887924;27117132;27145964;27216196;27481945;27555588;27558335;27566826;27713499;27806292;28114311;28196833;28356423;28486791;29089502;29358323;29382922;29557506;30290780;30853411;31848261;31871319;32014026;32203420;33592498;35051231;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8089108;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9804763;9822598;9843499;9988689", "class_list": "", "function": "Associations of noise kurtosis, genetic variations in NOX3 and lifestyle factors with noise-induced hearing loss. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variants in NOX3 may confer susceptibility to antithyroid drug-induced apoptosis of granulocytes., [RefSeq, PubMed]; In lung transplants, our study highlights a donor-recipient interaction of NOX3 and NFE2L2 that increases the risk of PGD., [RefSeq, PubMed]; NADPH oxidase that catalyzes the generation of superoxide from molecular oxygen utilizing NADPH as an electron donor, upon formation of a complex with CYBA/p22phox (PubMed:15181005, PubMed:15824103). Plays a role in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Nox3 functions together with p22(phox) as an enzyme constitutively producing superoxide, [RefSeq, PubMed]; Nox3 is regulated by NOXO1, p47phox, and p67phox, [RefSeq, PubMed]; The results suggested that rs6557421 variant in Nox3 and rs3744439 variant in Tbx4 might have potential effect on individual susceptibility to pulmonary hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 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": 1, "reported_glycation": 0, "reported_snv": 30, "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": "Q9HBJ9", "ec_number_list": "2.7.11.1;3.1.4.4;1.6.3.-;2.7.10.1;2.7.1.153;2.7.1.137;2.7.10.2;3.6.5.2;2.7.11.13;1.-.-.-;1.6.3.1;1.11.1.-", "go_molecular_function": "GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0016174 NAD(P)H oxidase H2O2-forming activity;GO:0016175 superoxide-generating NAD(P)H oxidase activity;GO:0106292 superoxide-generating NADPH oxidase activity", "go_cellular_component": "GO:0043020 NADPH oxidase complex;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006952 defense response;GO:0042554 superoxide anion generation", "synthesized_glycan_count": 0, "hit_score": 25.7, "record_id": "Q9HBY0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NV35-1", "uniprot_id": "NUD15_HUMAN", "mass": 18609.0, "length": 164, "protein_name": "Nucleotide triphosphate diphosphatase NUDT15", "gene_name": "NUDT15", "organism": "Human", "refseq_name": "nucleotide triphosphate diphosphatase NUDT15 isoform 2", "refseq_ac": "NP_001291674", "gene_names_uniprotkb": "NUDT15; MTH2", "gene_names_refseq": "MTH2; NUDT15D; NUDT15", "protein_names_uniprotkb": "Nucleotide triphosphate diphosphatase NUDT15; 3.6.1.68; 3.6.1.76; 3.6.1.9; MTH2; MutT homolog 2; Nucleoside diphosphate-linked moiety X motif 15; Nucleoside diphosphate-linked to another moiety X hydrolase 15; Nudix hydrolase 15; Nudix motif 15", "protein_names_refseq": "8-oxo-dGTPase NUDT15; mutT homolog 2; nucleoside diphosphate-linked to another moiety X hydrolase 15; nucleotide triphosphate diphosphatase NUDT15 isoform 2; nucleotide triphosphate diphosphatase NUDT15; nudix (nucleoside diphosphate linked moiety X)-type motif 15; probable 7,8-dihydro-8-oxoguanine triphosphatase NUDT15; probable 8-oxo-dGTP diphosphatase NUDT15", "tax_id": 9606, "disease": "poor metabolism of thiopurines 2 (Disease Ontology:DOID:0060996); neutropenia (Disease Ontology:DOID:1227); pancytopenia (Disease Ontology:DOID:12450); leukopenia (Disease Ontology:DOID:615)", "pathway": " (hsa:55270); (R-HSA-2393930); (R-HSA-9748787)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10840050;12435799;12697733;12767940;15747503;15850391;16530731;16717136;17052728;17301077;17567574;17996297;18462755;19419956;197968;20144704;20216118;20385596;211390;21389046;21723252;22444596;22556419;23096567;23816837;24824603;24974183;25108385;25576301;25692488;26238318;26878724;27600516;28832583;29242379;29482072;30379171;30987408;31844290;32938616;33912179;33968037;34357683;36241641;36580660;37794799;38682355;38936894;38944687;5767308;657528;6989049;8226881;8670112;8810257;9099726;9132023;942489", "class_list": "", "function": "Association of NUDT15 gene polymorphism with adverse reaction, treatment efficacy, and dose of 6-mercaptopurine in patients with acute lymphoblastic leukemia: a systematic review and meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Authros identified a nonsynonymous SNP in NUDT15 (encoding p.Arg139Cys) that was strongly associated with thiopurine-induced early leukopenia (odds ratio (OR) = 35.6; P(combined) = 4.88 x 10(-94))., [RefSeq, PubMed]; Catalyzes the hydrolysis of nucleoside triphosphates including dGTP, dTTP, dCTP, their oxidized forms like 8-oxo-dGTP and the prodrug thiopurine derivatives 6-thio-dGTP and 6-thio-GTP (PubMed:26238318). Could also catalyze the hydrolysis of some nucleoside diphosphate derivatives (PubMed:22556419, PubMed:26238318). Hydrolyzes oxidized nucleosides triphosphates like 8-oxo-dGTP in vitro, but the specificity and efficiency towards these substrates are low. Therefore, the potential in vivo sanitizing role of this enzyme, that would consist in removing oxidatively damaged forms of nucleosides to prevent their incorporation into DNA, is unclear (PubMed:22556419, PubMed:26238318). Through the hydrolysis of thioguanosine triphosphates may participate in the catabolism of thiopurine drugs (PubMed:25108385, PubMed:26238318). May also have a role in DNA synthesis and cell cycle progression by stabilizing PCNA (PubMed:19419956). Exhibits decapping activity towards dpCoA-capped RNAs in vitro (By similarity). In vitro, it catalyzes the hydrolysis of isoprene pyrophosphates, including (2E)-geranyl diphosphate, isopentenyl diphosphate, (2E,6E)-farnesyl diphosphate and dimethylallyl diphosphate (PubMed:38944687). It may therefore play a role in the control of cellular levels of these metabolites that are essential for multiple cellular processes, including isoprenoids synthesis and protein isoprenylation (Probable)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Data demonstrate for the first time that PCNA is protected by this newly identified partner molecule MTH2, which is related to DNA synthesis and cell cycle progression., [RefSeq, PubMed]; Human MTH1, MTH2, and NUDT5 proteins act as a defense against the mutagenesis induced by oxidized dGTP., [RefSeq, PubMed]; NUDT15 Polymorphism and Its Association With Mercaptopurine Hematotoxicity in Acute Lymphoblastic Leukemia in Indonesian Children., [RefSeq, PubMed]; Novel variant in Nudix hydrolase 15 gene influences 6-mercaptopurine toxicity in childhood acute lymphoblastic leukemia patients., [RefSeq, PubMed]; Patients with defective NUDT15 alleles showed excessive levels of thiopurine active metabolites and toxicity. [meta-analysis], [RefSeq, PubMed]; This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "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": "A2RUR6;Q32Q27;Q6P2C9", "ec_number_list": "3.6.1.-;3.6.1.77;3.1.4.1;3.6.1.9;3.6.1.17;3.6.1.58;3.6.1.68;3.6.1.76;3.1.3.-;3.6.1.62;3.6.1.64", "go_molecular_function": "GO:0044715 8-oxo-dGDP phosphatase activity;GO:0046872 metal ion binding;GO:0008413 8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity;GO:0035539 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity;GO:0047429 nucleoside triphosphate diphosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1901292 nucleoside phosphate catabolic process;GO:0000278 mitotic cell cycle;GO:0006195 purine nucleotide catabolic process;GO:0006203 dGTP catabolic process;GO:0042262 DNA protection", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9NV35-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULI1-1", "uniprot_id": "NWD2_HUMAN", "mass": 197466.0, "length": 1742, "protein_name": "NACHT and WD repeat domain-containing protein 2", "gene_name": "NWD2", "organism": "Human", "refseq_name": "NACHT and WD repeat domain-containing protein 2", "refseq_ac": "NP_001138462", "gene_names_uniprotkb": "NWD2; KIAA1239", "gene_names_refseq": "KIAA1239; NWD2", "protein_names_uniprotkb": "NACHT and WD repeat domain-containing protein 2; Leucine-rich repeat and WD repeat-containing protein KIAA1239", "protein_names_refseq": "NACHT and WD repeat domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57495)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "26992070;27397612;29557506;30429286;31844290;32387766;32983136;33592498;34932366;35051231;35580925", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "A8MRU1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0045202 synapse", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9ULI1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N162-1", "uniprot_id": "OR8H2_HUMAN", "mass": 35422.0, "length": 312, "protein_name": "Olfactory receptor 8H2", "gene_name": "OR8H2", "organism": "Human", "refseq_name": "olfactory receptor 8H2", "refseq_ac": "NP_001005200", "gene_names_uniprotkb": "OR8H2", "gene_names_refseq": "OR11-171; OR8H2", "protein_names_uniprotkb": "Olfactory receptor 8H2; Olfactory receptor OR11-171", "protein_names_refseq": "olfactory receptor 8H2; olfactory receptor OR11-171", "tax_id": 9606, "disease": "", "pathway": " (hsa:390151); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986", "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": 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": 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": "Q6IFC1", "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:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N162-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGC2-1", "uniprot_id": "OR4E2_HUMAN", "mass": 35466.0, "length": 313, "protein_name": "Olfactory receptor 4E2", "gene_name": "OR4E2", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "OR4E2", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 4E2; Olfactory receptor OR14-42", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:26686); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986;32983136", "class_list": "", "function": "Olfactory receptor that is activated by the binding of organosulfur odorants with thioether groups such as (methylthio)methanethiol (MTMT) and bis(methylthiomethyl) disulfide (By similarity). Also binds odorants cis-cyclooctene and tert-butyl mercaptan (By similarity). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity)., [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": "Q6IET6;Q96R62", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0046872 metal ion binding;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding;GO:0005507 copper ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGC2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG78-1", "uniprot_id": "OR8G5_HUMAN", "mass": 38798.0, "length": 346, "protein_name": "Olfactory receptor 8G5", "gene_name": "OR8G5", "organism": "Human", "refseq_name": "olfactory receptor 8G5", "refseq_ac": "NP_001005198", "gene_names_uniprotkb": "OR8G5; OR8G5P; OR8G6", "gene_names_refseq": "OR11-298; OR8G5P; OR8G5; OR8G6", "protein_names_uniprotkb": "Olfactory receptor 8G5; Olfactory receptor 8G6; Olfactory receptor OR11-298", "protein_names_refseq": "olfactory receptor 8G5; olfactory receptor 8G6; olfactory receptor OR11-298; olfactory receptor, family 8, subfamily G, member 5 pseudogene; olfactory receptor, family 8, subfamily G, member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:219865); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986;35051231", "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": 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": "B2RND3;Q6IEU6", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NG78-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76002-1", "uniprot_id": "OR2J2_HUMAN", "mass": 35204.0, "length": 312, "protein_name": "Olfactory receptor 2J2", "gene_name": "OR2J2", "organism": "Human", "refseq_name": "olfactory receptor 2J2", "refseq_ac": "NP_112167", "gene_names_uniprotkb": "OR2J2", "gene_names_refseq": "OR2J2; OR6-19; OR6-8; OR6.3.8; ORL684; dJ80I19.4; hs6M1-6", "protein_names_uniprotkb": "Olfactory receptor 2J2; Hs6M1-6; OR6-8; Olfactory receptor 6-8; Olfactory receptor OR6-19", "protein_names_refseq": "olfactory receptor 2J2; olfactory receptor 6-8; olfactory receptor OR6-19", "tax_id": 9606, "disease": "", "pathway": " (hsa:26707); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 28, "publication_id_list": "10460249;11237011;14983052;15598656;17601748;17873857;17973576;19474308;19581598;19851445;23481700;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;29557506;31040214;31974307;32066986;32387766;32938616;34509645", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; 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": 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": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NCU9;A6NLD0;B0UY53;Q32N09;Q5ST39;Q5SUJ6;Q6IF24;Q9GZK2;Q9GZL3", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O76002-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGG7-1", "uniprot_id": "OR8A1_HUMAN", "mass": 36388.0, "length": 326, "protein_name": "Olfactory receptor 8A1", "gene_name": "OR8A1", "organism": "Human", "refseq_name": "olfactory receptor 8A1", "refseq_ac": "NP_001005194", "gene_names_uniprotkb": "OR8A1", "gene_names_refseq": "OR11-318; OR8A1; OST025", "protein_names_uniprotkb": "Olfactory receptor 8A1; OST025; Olfactory receptor OR11-318", "protein_names_refseq": "olfactory receptor 8A1; olfactory receptor OR11-318", "tax_id": 9606, "disease": "", "pathway": " (hsa:390275); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11237011;14983052;24800820;27515280;29557506;31974307;32066986", "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": 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": 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": "Q6IEW7;Q96RC6", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGG7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGQ3-1", "uniprot_id": "OR1S2_HUMAN", "mass": 36579.0, "length": 325, "protein_name": "Olfactory receptor 1S2", "gene_name": "OR1S2", "organism": "Human", "refseq_name": "olfactory receptor 1S2", "refseq_ac": "NP_001004459", "gene_names_uniprotkb": "OR1S2", "gene_names_refseq": "OR11-231; OR1S2", "protein_names_uniprotkb": "Olfactory receptor 1S2; Olfactory receptor OR11-231", "protein_names_refseq": "olfactory receptor 1S2; olfactory receptor OR11-231", "tax_id": 9606, "disease": "", "pathway": " (hsa:219958); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11237011;14983052;23481700;24800820;27515280;31974307;32066986;35051231", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFG5;Q96R85", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGQ3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NH00-1", "uniprot_id": "OR2T8_HUMAN", "mass": 34659.0, "length": 312, "protein_name": "Olfactory receptor 2T8", "gene_name": "OR2T8", "organism": "Human", "refseq_name": "olfactory receptor 2T8", "refseq_ac": "NP_001005522", "gene_names_uniprotkb": "OR2T8; OR2T8P", "gene_names_refseq": "OR2T8P; OR2T8", "protein_names_uniprotkb": "Olfactory receptor 2T8", "protein_names_refseq": "olfactory receptor 2T8; olfactory receptor, family 2, subfamily T, member 8 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:343172); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "24800820;27515280;31974307;32066986", "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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NH00-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NNC1-1", "uniprot_id": "P12LL_HUMAN", "mass": 94058.0, "length": 897, "protein_name": "Putative POM121-like protein 1-like", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative POM121-like protein 1-like", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "23481700;26154972;35051231;38253038;7818533;8764824", "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": 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": 0, "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": "A6NNK7;Q8N834", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A6NNC1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04000-1", "uniprot_id": "OPSR_HUMAN", "mass": 40574.0, "length": 364, "protein_name": "Long-wave-sensitive opsin 1", "gene_name": "OPN1LW", "organism": "Human", "refseq_name": "long-wave-sensitive opsin 1", "refseq_ac": "NP_064445", "gene_names_uniprotkb": "OPN1LW; RCP", "gene_names_refseq": "CBBM; CBP; COD5; OPN1LW; RCP; ROP", "protein_names_uniprotkb": "Long-wave-sensitive opsin 1; ROP; Red cone photoreceptor pigment; Red-sensitive opsin", "protein_names_refseq": "cone dystrophy 5 (X-linked); long-wave-sensitive opsin 1; opsin 1 (cone pigments), long-wave-sensitive; red cone opsin; red cone photoreceptor pigment; red-sensitive opsin", "tax_id": 9606, "disease": "blue cone monochromacy (Disease Ontology:DOID:0050679); red color blindness (Disease Ontology:DOID:13910)", "pathway": " (hsa:5956); (R-HSA-2187335); (R-HSA-418594); (R-HSA-419771); (R-HSA-9918450)", "pathway_count": 5, "publication_count": 56, "publication_id_list": "10234000;10581022;10632589;11007482;11237011;12051694;12120503;12177057;12367507;1302020;14623103;1531728;1557123;15674243;15951850;16106050;16128572;16634148;16923326;1742276;18434541;18577758;1925597;19781940;19846785;2303470;23143414;23905688;24799687;2534964;2542268;2748346;2788922;28096191;2834384;2937147;3170584;3303660;34440353;3485310;35741704;35743313;35759666;37097228;4772407;6140680;6589631;7937899;7947717;8015379;8213841;8406495;8666378;9275222;9541407;9705317", "class_list": "", "function": "G protein-coupled photoreceptor that selectively activates G(i) proteins in response to long-wavelength (red) light, thereby decreasing intracellular cAMP levels (PubMed:2937147, PubMed:6140680, Ref.5). Activation occurs when the opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers a G protein-mediated phototransduction cascade (Ref.5). Mediates visual perception of red light in cone photoreceptor cells (PubMed:12051694, PubMed:8213841, PubMed:8666378)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; In a Japanese male with congenital protan red/green color blindness the mutation Gly338Glu (GGG-->GAG) occurred in the single red gene resulting in no absorbance and loss of function, [RefSeq, PubMed]; Insight from OPN1LW Gene Haplotypes into the Cause and Prevention of Myopia. Publication Status: Online-Only, [RefSeq, PubMed]; Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy., [RefSeq, PubMed]; This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]., [RefSeq]; Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 11, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0008020 G protein-coupled photoreceptor activity;GO:0009881 photoreceptor activity;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0097381 photoreceptor disc membrane;GO:0001750 photoreceptor outer segment;GO:0016020 membrane", "go_biological_process": "GO:0016038 absorption of visible light;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0007602 phototransduction", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P04000-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00398-1", "uniprot_id": "P2Y10_HUMAN", "mass": 38774.0, "length": 339, "protein_name": "Putative P2Y purinoceptor 10", "gene_name": "P2RY10", "organism": "Human", "refseq_name": "putative P2Y purinoceptor 10 isoform a", "refseq_ac": "NP_001311147", "gene_names_uniprotkb": "P2RY10", "gene_names_refseq": "LPS2; LYPSR2; P2RY10; P2Y10", "protein_names_uniprotkb": "Putative P2Y purinoceptor 10; P2Y-like receptor; P2Y10", "protein_names_refseq": "G-protein coupled purinergic receptor P2Y10; P2Y-like receptor; lysophosphatidylserine receptor 2; purinergic receptor P2Y, G-protein coupled, 10; putative P2Y purinoceptor 10 isoform a; putative P2Y purinoceptor 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:27334); (R-HSA-416476); (R-HSA-417957)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;10191087;10567430;10727532;10753868;10861009;11004484;11015615;11156592;11196645;11546776;11742120;11753430;12120503;12386137;12458155;15199474;15951850;16182515;16268477;16268778;16339447;16754659;16774927;16923326;16990797;17166850;18297070;18434541;18466763;18515384;18577758;18936096;1905813;19339661;19552634;23890048;24393016;24414167;25469497;25892735;26194851;26758983;26853435;27694321;28089137;2841328;28467828;28904123;29437277;29493099;29557506;29700886;30315122;30410026;30573663;3086311;31217245;31844290;31848261;31998317;32350084;32488085;32983136;3304967;33912179;33936100;34357683;34815397;35154160;35580925;38357893;7937899;8159738;8537336;8664309;8666290;8670200;8720746;9223435;9305846;9364473;9405388;9770463", "class_list": "", "function": "G-protein-coupled receptor P2Y10 facilitates chemokine-induced CD4 T cell migration through autocrine/paracrine mediators. Publication Status: Online-Only, [RefSeq, PubMed]; Our data show that the LysoPS-induced eosinophil degranulation most likely occurs through P2Y10. These findings suggest that LysoPS plays a specific role in eosinophils and introduces the possibility of LysoPS/P2Y10-based therapeutics in the treatment of eosinophilic diseases., [RefSeq, PubMed]; Putative receptor for purines coupled to G proteins., [UniProtKB]; The lncRNA TRG-AS1 promotes the growth of colorectal cancer cells through the regulation of P2RY10/GNA13., [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of G-protein coupled receptors that are preferentially activated by adenosine and uridine nucleotides. There is a pseudogene for this gene nearby on chromosome X. Multiple alternatively spliced transcripts have been observed. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 26, "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": "D3DTE5;Q4VBN7;Q86V16", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "O00398-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14581-1", "uniprot_id": "OR7AH_HUMAN", "mass": 34013.0, "length": 309, "protein_name": "Olfactory receptor 7A17", "gene_name": "OR7A17", "organism": "Human", "refseq_name": "olfactory receptor 7A17", "refseq_ac": "NP_112163", "gene_names_uniprotkb": "OR7A17", "gene_names_refseq": "BC85395_4; HTPCRX19; OR7A17", "protein_names_uniprotkb": "Olfactory receptor 7A17", "protein_names_refseq": "olfactory receptor 7A17; olfactory receptor OR19-20", "tax_id": 9606, "disease": "", "pathway": " (hsa:26333); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;34830183;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory Receptor OR7A17 Expression Correlates with All-Trans Retinoic Acid (ATRA)-Induced Suppression of Proliferation in Human Keratinocyte Cells. Publication Status: Online-Only, [RefSeq, PubMed]; 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": 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": "Q6IFQ6;Q96R98", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O14581-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60412-1", "uniprot_id": "OR7C2_HUMAN", "mass": 35323.0, "length": 319, "protein_name": "Olfactory receptor 7C2", "gene_name": "OR7C2", "organism": "Human", "refseq_name": "olfactory receptor 7C2", "refseq_ac": "NP_036509", "gene_names_uniprotkb": "OR7C2; OR7C3", "gene_names_refseq": "CIT-HSP-87M17; OR19-18; OR7C2; OR7C3", "protein_names_uniprotkb": "Olfactory receptor 7C2; OR19-18; Olfactory receptor 19-18; Olfactory receptor 7C3; Olfactory receptor OR19-22", "protein_names_refseq": "olfactory receptor 19-18; olfactory receptor 7C2; olfactory receptor 7C3; olfactory receptor OR19-22; olfactory receptor, family 7, subfamily C, member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:26658); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;22552337;24800820;27515280;31974307;32066986;35051231;9500546", "class_list": "", "function": "Analysis of indel variations in the human disease-associated genes CDKN2AIP, WDR66, USP20 and OR7C2 in a Korean population. Publication Status: Online-Only, [RefSeq, PubMed]; 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": 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": 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": "O43881;Q6IFP9", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "O60412-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75147-3", "uniprot_id": "OBSL1_HUMAN", "mass": 206947.0, "length": 1896, "protein_name": "Obscurin-like protein 1", "gene_name": "OBSL1", "organism": "Human", "refseq_name": "obscurin-like protein 1 isoform 3 precursor", "refseq_ac": "NP_001166879", "gene_names_uniprotkb": "OBSL1; KIAA0657", "gene_names_refseq": "OBSL1", "protein_names_uniprotkb": "Obscurin-like protein 1", "protein_names_refseq": "obscurin like 1; obscurin-like protein 1 isoform 3 precursor; obscurin-like protein 1", "tax_id": 9606, "disease": "3-M syndrome (Disease Ontology:DOID:0060241)", "pathway": " (hsa:23363); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 152, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;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;17081101;17132228;17183367;17220875;17289344;17332328;17497243;17785452;18093314;18206966;18477606;18669648;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19481195;19617556;19664994;19748355;20133654;20489725;21447816;21463634;21572988;21737058;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23018678;23186163;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25548167;25645385;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27862975;28115426;28904123;29153394;29351928;29393594;29557506;29786170;30315122;30379171;30484775;30610225;30980518;31844290;32005965;32157095;32284348;32387766;32488085;32502341;32938616;33135300;33258289;33444648;33592498;33968037;34087483;34171305;34509645;34597859;35051231;35580925;36010968;36284347;37217939;37340703;37938771;9790970;9887101;9891082", "class_list": "", "function": "A rare cause of syndromic short stature: 3M syndrome in three families., [RefSeq, PubMed]; Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Acts as a regulator of the Cul7-RING(FBXW8) ubiquitin-protein ligase, playing a critical role in the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain. Required to localize CUL7 to the Golgi apparatus in neurons., [UniProtKB, PubMed, PubMed, PubMed]; Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]., [RefSeq]; Loss of OBSL1 leads to downregulation of CUL7 and results in primordial growth disorder 3-M syndrome., [RefSeq, PubMed]; N-terminal Ig-domains of Obsl1 and Obscurin (Obsc) bind to titin-M10 and myomesin. Titin mutations, linked to limb-girdle muscular dystrophy 2J (LGMD2J) or Salih myopathy, weaken or abrogate titin-Obsc and titin-Obsl1 binding., [RefSeq, PubMed]; Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants., [RefSeq, PubMed]; Report the cloning and characterization of OBSL1; OBSL1 is located on human chromosome 2q35 within 100 kb of SPEG, another gene related to obscurin, [RefSeq, PubMed]; The mutational spectrum of CUL7, OBSL1, and investigation of genotype-phenotype correlation in 3M syndrome has been reported., [RefSeq, PubMed]; Three M syndrome 2 in two Indian patients., [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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R468;A4KVA4;A4KVA5;Q96IW3;S4R3M6", "ec_number_list": "", "go_molecular_function": "GO:0008093 cytoskeletal anchor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007010 cytoskeleton organization;GO:0055003 cardiac myofibril assembly;GO:0050775 positive regulation of dendrite morphogenesis;GO:0000226 microtubule cytoskeleton organization;GO:0007088 regulation of mitotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "O75147-3", "record_type": "protein" }, { "uniprot_canonical_ac": "O95007-1", "uniprot_id": "OR6B1_HUMAN", "mass": 35299.0, "length": 311, "protein_name": "Olfactory receptor 6B1", "gene_name": "OR6B1", "organism": "Human", "refseq_name": "olfactory receptor 6B1", "refseq_ac": "NP_001005281", "gene_names_uniprotkb": "OR6B1", "gene_names_refseq": "OR6B1; OR7-3; OR7-9", "protein_names_uniprotkb": "Olfactory receptor 6B1; OR7-3; Olfactory receptor 7-3; Olfactory receptor OR7-9", "protein_names_refseq": "olfactory receptor 6B1; olfactory receptor 7-3; olfactory receptor OR7-9", "tax_id": 9606, "disease": "", "pathway": " (hsa:135946); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;29557506;31974307;32066986;32357974;32387766", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D2G2;B9EH47;Q6IFP6;Q96R38", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "O95007-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95371-1", "uniprot_id": "OR2C1_HUMAN", "mass": 34412.0, "length": 312, "protein_name": "Olfactory receptor 2C1", "gene_name": "OR2C1", "organism": "Human", "refseq_name": "olfactory receptor 2C1", "refseq_ac": "NP_036500", "gene_names_uniprotkb": "OR2C1; OR2C2P", "gene_names_refseq": "OLFmf3; OR2C1; OR2C2P", "protein_names_uniprotkb": "Olfactory receptor 2C1; OLFmf3; Olfactory receptor 2C2; Olfactory receptor OR16-1; Olfactory receptor OR16-2", "protein_names_refseq": "olfactory receptor 2C1; olfactory receptor 2C2; olfactory receptor OR16-1; olfactory receptor OR16-2; olfactory receptor, family 2, subfamily C, member 2 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:4993); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986;9847080", "class_list": "", "function": "Olfactory receptor that is activated by the binding of organosulfur odorants with thioether groups such as (methylthio)methanetiol (MTMT) (By similarity). Also binds odorants acetophenone and benzaldehyde (By similarity). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity). May be involved in the molecular processes underlying fasciculation and targeting of olfactory axons (By similarity)., [UniProtKB, 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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0AVA4;Q6IF34;Q6IF55", "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:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O95371-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95948-1", "uniprot_id": "ONEC2_HUMAN", "mass": 54303.0, "length": 504, "protein_name": "One cut domain family member 2", "gene_name": "ONECUT2", "organism": "Human", "refseq_name": "one cut domain family member 2", "refseq_ac": "NP_004843", "gene_names_uniprotkb": "ONECUT2; HNF6B", "gene_names_refseq": "OC-2; OC2; ONECUT2", "protein_names_uniprotkb": "One cut domain family member 2; HNF-6-beta; Hepatocyte nuclear factor 6-beta; OC-2; One cut homeobox 2; Transcription factor ONECUT-2", "protein_names_refseq": "HNF-6-beta; ONECUT-2 homeodomain transcription factor; hepatocyte nuclear factor 6-beta; one cut domain family member 2; onecut 2; transcription factor ONECUT-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9480)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "18288132;18418398;28904123;33015779;34365839;34846842;35051231;35254053;36178080;36508388;37217939;38997271;9915796", "class_list": "", "function": "A CpG island proximal to ONECUT2 is frequently methylated in diffuse large B-cell lymphoma (DLBCL)., [RefSeq, PubMed]; Increased ONECUT2 induced by Helicobacter pylori promotes gastric cancer cell stemness via an AKT-related pathway. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA TM1-3P Regulates Proliferation, Apoptosis and Inflammation of Fibroblasts in Osteoarthritis through miR-144-3p/ONECUT2 Axis., [RefSeq, PubMed]; MicroRNA-1298-3p induces tumor-suppressive effects in human cervical cancer cells via post-transcriptional suppression of ONECUT2., [RefSeq, PubMed]; OC2 transcription factor is a direct target of T-bet in type-1 T-helper cells., [RefSeq, PubMed]; ONECUT2 which is targeted by hsa-miR-15a-5p enhances stemness maintenance of gastric cancer stem cells., [RefSeq, PubMed]; This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activator. Activates the transcription of a number of liver genes such as HNF3B., [UniProtKB]; Up-regulated ONECUT2 and down-regulated SST promote gastric cell migration, invasion, epithelial-mesenchymal transition and tumor growth in gastric cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "O95948-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P04001-1", "uniprot_id": "OPSG_HUMAN", "mass": 40584.0, "length": 364, "protein_name": "Medium-wave-sensitive opsin 1", "gene_name": "OPN1MW2; OPN1MW", "organism": "Human", "refseq_name": "medium-wave-sensitive opsin 1", "refseq_ac": "NP_000504", "gene_names_uniprotkb": "OPN1MW2; OPN1MW; GCP; OPN1MW", "gene_names_refseq": "CBBM; CBD; COD5; GCP; GOP; OPN1MW1; OPN1MW", "protein_names_uniprotkb": "Medium-wave-sensitive opsin 1; GOP; Green cone photoreceptor pigment; Green-sensitive opsin", "protein_names_refseq": "cone dystrophy 5 (X-linked); green cone photoreceptor pigment; green cone pigment; green-sensitive opsin; medium-wave-sensitive opsin 1; opsin 1 (cone pigments), medium-wave-sensitive; photopigment apoprotein", "tax_id": 9606, "disease": "blue cone monochromacy (Disease Ontology:DOID:0050679); red-green color blindness (Disease Ontology:DOID:13909)", "pathway": " (hsa:101060233); (hsa:2652); (hsa:728458); (R-HSA-2187335); (R-HSA-418594); (R-HSA-419771); (R-HSA-9918436)", "pathway_count": 7, "publication_count": 60, "publication_id_list": "10234000;10581022;10632589;11007482;11237011;11772996;12051694;12120503;12177057;12367507;1302020;14623103;1531728;1557123;15674243;15951850;16106050;16128572;16634148;16923326;1742276;18434541;18577758;1925597;19781940;19846785;20579627;2303470;23143414;23905688;24799687;2534964;2542268;2748346;2788922;28096191;2834384;28402104;2937147;29940872;30948514;3170584;3303660;34440353;3485310;35051231;35743313;35759666;4772407;6140680;6589631;7937899;7947717;8015379;8213841;8406495;8666378;9275222;9541407;9705317", "class_list": "", "function": "G protein-coupled photoreceptor that selectively activates G(i) proteins in response to medium-wavelength (green) light, thereby decreasing intracellular cAMP levels (PubMed:2937147, PubMed:6140680, Ref.6). Activation occurs when the opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers a G protein-mediated phototransduction cascade (Ref.6). Mediates visual perception of green light in cone photoreceptor cells (PubMed:12051694, PubMed:1302020, PubMed:8666378)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Molecular genetic analysis of the OPN1LW/OPN1MW gene cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR. Publication Status: Online-Only, [RefSeq, PubMed]; Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy., [RefSeq, PubMed]; These results suggest that O-glycosylation is a fundamental feature of red and green cone opsins, which may be relevant to their function or to cone cell development, and that differences in this post-translational modification also could contribute to the different morphologies of rod and cone photoreceptors., [RefSeq, PubMed]; This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0008020 G protein-coupled photoreceptor activity;GO:0009881 photoreceptor activity;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0097381 photoreceptor disc membrane;GO:0001750 photoreceptor outer segment;GO:0120201 cone photoreceptor disc membrane;GO:0016020 membrane", "go_biological_process": "GO:0016038 absorption of visible light;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0007602 phototransduction", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P04001-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08100-1", "uniprot_id": "OPSD_HUMAN", "mass": 38893.0, "length": 348, "protein_name": "Rhodopsin", "gene_name": "RHO", "organism": "Human", "refseq_name": "rhodopsin", "refseq_ac": "NP_000530", "gene_names_uniprotkb": "RHO; OPN2", "gene_names_refseq": "CSNBAD1; OPN2; RHO; RP4", "protein_names_uniprotkb": "Rhodopsin; Opsin-2", "protein_names_refseq": "opsin 2, rod pigment; opsin-2; rhodopsin", "tax_id": 9606, "disease": "retinitis pigmentosa 4 (Disease Ontology:DOID:0110372); congenital stationary night blindness autosomal dominant 1 (Disease Ontology:DOID:0110862); retinitis pigmentosa (Disease Ontology:DOID:10584); fundus albipunctatus (Disease Ontology:DOID:11105); night blindness (Disease Ontology:DOID:8499)", "pathway": " (hsa:6010); (R-HSA-2453902); (R-HSA-2485179); (R-HSA-2514859); (R-HSA-418594); (R-HSA-419771); (R-HSA-5620916)", "pathway_count": 7, "publication_count": 242, "publication_id_list": "10037746;10051575;10075733;10234000;10564809;10581022;10617778;10632589;10676965;10753906;11007482;11123914;11274389;11292825;11498053;11601986;11687658;11713293;11754336;11910029;12036349;12036956;12119397;12120503;12177057;12221131;12407145;12432397;12467591;12467592;12499365;12566452;12825937;1302020;1302614;1356371;1379636;1387789;1391967;1436039;14623103;14702087;15145060;15158452;15314061;1531728;15471866;1557123;15674243;15728366;15865448;15946941;15951850;16038802;16136078;1614872;16155582;16274222;16431365;16460277;16537653;16634148;16782012;16895762;16908407;16923326;17007872;17030804;17114291;1720239;1722240;17255476;17574030;17628206;17636946;17646400;1765377;17956946;1833777;1840561;18434541;18577758;1862076;18685082;18803695;1882937;1897520;19017632;19049981;19153612;1925597;19297529;19309693;19454479;19818506;1985460;19934218;19960070;1999465;20083215;20192770;20308558;20430952;20532191;20850105;20975703;21273506;2137202;21493626;21550243;2155175;21565611;2161380;21774515;21775626;2215617;22334370;22389062;2239971;22420621;22433857;22658984;22665496;22983554;2303470;23351793;23567335;23945166;2422346;24296415;2457685;2467600;2473195;2534964;2540796;2542268;2550422;2558719;25664179;2578616;26200343;2748346;2834384;2835761;2837463;28524165;28753425;28837730;2937147;3006923;30679635;3095147;31154438;31251171;3164688;3170584;34932366;35051231;36010968;37952496;38070066;38284172;38743626;3933561;39370953;4359491;4361997;4366891;4772407;5315589;6140680;6264430;6288450;6342691;6512705;6589631;6679757;6930647;7525588;7526403;7633434;7644482;7662865;7670478;7678445;7682292;7777544;7846071;7850269;7881178;7929238;7937899;7947717;7981701;7983048;7987326;7987331;7987385;8015379;8045708;8076945;8081400;8088850;8105993;8107847;8240107;8317502;8353500;8358437;8364589;8382952;8401533;8406457;8406495;8494894;8500562;8554077;8566799;8617805;8626439;8673138;8706659;8812493;8884265;8913594;9099669;9119368;9169442;9275222;9303550;9353336;9430683;9452035;9459445;9478004;9490294;9506952;9541407;9703434;9819391;9888392;9920938", "class_list": "", "function": "Charge transfer characteristics in rhodopsin mimics during photoexcitation. Publication Status: Online-Only, [RefSeq, PubMed]; Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness., [RefSeq, PubMed]; G protein-coupled photoreceptor that activates the G protein transducin (t) signaling pathway in response to light and is essential for image-forming vision under low-light conditions (PubMed:6140680, PubMed:7846071, PubMed:8107847). Required for postnatal photoreceptor cell viability (PubMed:12566452, PubMed:2215617). Activation occurs when the covalently bound 11-cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers G protein-mediated phototransduction (Probable) (PubMed:26200343, PubMed:28753425, PubMed:8107847). Signal termination occurs via receptor phosphorylation, which promotes binding of arrestin (SAG) and displacement of the G protein alpha subunit (Probable) (PubMed:26200343)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population., [RefSeq, PubMed]; Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa., [RefSeq, PubMed]; Osmotic stress studies of G-protein-coupled receptor rhodopsin activation., [RefSeq, PubMed]; The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when light hits the retinal molecule. Defects in this gene are a cause of congenital stationary night blindness. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 8, "reported_phosphosites": 11, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q16414;Q2M249", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0046872 metal ion binding;GO:0005502 11-cis retinal binding;GO:0008020 G protein-coupled photoreceptor activity", "go_cellular_component": "GO:0060342 photoreceptor inner segment membrane;GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0016038 absorption of visible light;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0007603 phototransduction, visible light;GO:0007602 phototransduction", "synthesized_glycan_count": 0, "hit_score": 26.8, "record_id": "P08100-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DN37-1", "uniprot_id": "PAL4G_HUMAN", "mass": 18166.0, "length": 164, "protein_name": "Peptidyl-prolyl cis-trans isomerase A-like 4G", "gene_name": "PPIAL4G", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase A-like 4G", "refseq_ac": "NP_001116540", "gene_names_uniprotkb": "PPIAL4G", "gene_names_refseq": "COAS-2; PPIAL4G", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase A-like 4G; 5.2.1.8; PPIase A-like 4G; Peptidylprolyl cis-trans isomerase A-like 4", "protein_names_refseq": "PPIase A-like 4A; PPIase A-like 4G; chromosome 1-amplified sequence 2; peptidyl-prolyl cis-trans isomerase A-like 4G; peptidylprolyl cis-trans isomerase A-like 4A; peptidylprolyl cis-trans isomerase A-like 4G; peptidylprolyl isomerase A (cyclophilin A)-like 4G", "tax_id": 9606, "disease": "", "pathway": " (hsa:644591)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "10.1101/2023.09.13.557529;39894887", "class_list": "", "function": "PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1L431;A2BFH1", "ec_number_list": "5.2.1.8", "go_molecular_function": "GO:0016018 cyclosporin A binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P0DN37-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DN77-1", "uniprot_id": "OPSG2_HUMAN", "mass": 40584.0, "length": 364, "protein_name": "Medium-wave-sensitive opsin 2", "gene_name": "OPN1MW2", "organism": "Human", "refseq_name": "medium-wave-sensitive opsin 2", "refseq_ac": "NP_001041646", "gene_names_uniprotkb": "OPN1MW2", "gene_names_refseq": "GOP; OPN1MW2", "protein_names_uniprotkb": "Medium-wave-sensitive opsin 2; GOP; Green cone photoreceptor pigment; Green-sensitive opsin; Opsin 1 cone pigments medium-wave-sensitive 2", "protein_names_refseq": "green cone photoreceptor pigment; green-sensitive opsin; medium-wave-sensitive opsin 2; opsin 1 (cone pigments), medium-wave-sensitive 2; opsin 1 cone pigments medium-wave-sensitive 2", "tax_id": 9606, "disease": "blue cone monochromacy (Disease Ontology:DOID:0050679)", "pathway": " (hsa:101060233); (hsa:2652); (hsa:728458)", "pathway_count": 3, "publication_count": 1, "publication_id_list": "19493002", "class_list": "", "function": "G protein-coupled photoreceptor that selectively activates G(i) proteins in response to medium-wavelength (green) light, thereby decreasing intracellular cAMP levels. Activation occurs when the opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers a G protein-mediated phototransduction cascade. Mediates visual perception of green light in cone photoreceptor cells., [UniProtKB, UniProtKB]; Immunoreactivity to anti-OPN1LW antibodies was seen in the basal layer of human epidermis & reconstructed skin. The opsin mRNA was seen in total RNA from human skin. Neither immunoreactivity nor mRNA expression was seen in cultured human keratinocytes., [RefSeq, PubMed]; This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0008020 G protein-coupled photoreceptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0001750 photoreceptor outer segment;GO:0120201 cone photoreceptor disc membrane", "go_biological_process": "GO:0016038 absorption of visible light;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0007602 phototransduction", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DN77-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P36957-1", "uniprot_id": "ODO2_HUMAN", "mass": 48755.0, "length": 453, "protein_name": "Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial", "gene_name": "DLST", "organism": "Human", "refseq_name": "dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform 1 precursor", "refseq_ac": "NP_001924", "gene_names_uniprotkb": "DLST; DLTS", "gene_names_refseq": "DLST; DLTS; KGD2; PGL7; PPGL7", "protein_names_uniprotkb": "Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial; 2-oxoglutarate dehydrogenase complex component E2; 2.3.1.61; Dihydrolipoamide succinyltransferase component of 2-oxoglutarate dehydrogenase complex; E2K; OGDC-E2", "protein_names_refseq": "E2K; OGDC-E2; dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex); dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial isoform 1 precursor; dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial", "tax_id": 9606, "disease": "pheochromocytoma/paraganglioma syndrome 7 (Disease Ontology:DOID:0061222); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:1743); (R-HSA-6783984); (R-HSA-9853506); (R-HSA-9857492); (R-HSA-9858328)", "pathway_count": 5, "publication_count": 86, "publication_id_list": "10103005;11237011;11389890;15946682;16051266;16263718;19570983;1959641;19892738;1993704;20068231;2025283;21846720;22152680;22706990;23141294;24256811;24341803;24495017;24714562;25210035;25860818;27452731;27862975;27920218;28063628;28435050;28757203;28904123;29191460;29211711;29242379;29393594;29557506;29632046;29786170;29987032;30192525;30379171;30929736;31042466;31217245;31530632;31844290;31998317;32157095;32161166;32350084;32357974;32387766;32633484;32695416;32792488;32938616;32983136;33141586;33180916;33537174;33592498;33912179;33968037;34078123;34087483;34171305;34229054;34233924;34357683;34509645;34725712;35008409;35051231;35052424;35272141;35580925;36010968;36241641;37453661;37481209;38665916;39990658;40596516;40914422;6469978;8076640;8268217;9242632", "class_list": "", "function": "Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex. The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711, PubMed:30929736). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711)., [UniProtKB, PubMed, PubMed]; Germline DLST Variants Promote Epigenetic Modifications in Pheochromocytoma-Paraganglioma., [RefSeq, PubMed]; Metabolic Enzyme DLST Promotes Tumor Aggression and Reveals a Vulnerability to OXPHOS Inhibition in High-Risk Neuroblastoma., [RefSeq, PubMed]; This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5W8;E7ESY5;Q7LDY7;Q9BQ32", "ec_number_list": "1.8.1.4;2.3.1.168;2.3.1.-;2.3.1.61;1.2.4.2;1.2.4.-;2.3.1.200", "go_molecular_function": "GO:0004149 dihydrolipoyllysine-residue succinyltransferase activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0016020 membrane", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0006099 tricarboxylic acid cycle;GO:0006103 2-oxoglutarate metabolic process;GO:0006104 succinyl-CoA metabolic process;GO:0033512 L-lysine catabolic process to acetyl-CoA via saccharopine", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P36957-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P47884-1", "uniprot_id": "OR1D4_HUMAN", "mass": 35227.0, "length": 311, "protein_name": "Olfactory receptor 1D4", "gene_name": "OR1D4", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "OR1D4", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 1D4; OR17-30; Olfactory receptor 17-30", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10673334;24800820;27515280;31974307;32066986;32983136;38253038;8004088", "class_list": "", "function": "Odorant receptor., [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": 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": "Q96RA5;Q9UM75", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007606 sensory perception of chemical stimulus", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "P47884-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P53384-1", "uniprot_id": "NUBP1_HUMAN", "mass": 34534.0, "length": 320, "protein_name": "Cytosolic Fe-S cluster assembly factor NUBP1", "gene_name": "NUBP1", "organism": "Human", "refseq_name": "cytosolic Fe-S cluster assembly factor NUBP1 isoform 2", "refseq_ac": "NP_001265435", "gene_names_uniprotkb": "NUBP1; NBP1; NBP", "gene_names_refseq": "CIAO5; NBP1; NBP35; NBP; NUBP1", "protein_names_uniprotkb": "Cytosolic Fe-S cluster assembly factor NUBP1; NBP 1; Nucleotide-binding protein 1", "protein_names_refseq": "cytosolic Fe-S cluster assembly factor NUBP1 isoform 2; cytosolic Fe-S cluster assembly factor NUBP1; nucleotide binding protein (e.coli MinD like); nucleotide binding protein 1 (E.coli MinD like); nucleotide binding protein 1 (MinD homolog, E. coli); nucleotide-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4682); (R-HSA-2564830)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "11237011;18573874;18625724;18676680;20802492;22223895;22678361;22678362;23150669;23301498;23481700;24029068;25576301;25880248;26375851;26992070;27846572;28063628;28510447;28514659;28649982;28855257;29493099;29557506;29632711;30429286;31217245;31844290;32157095;32350084;32357974;32429669;32502341;32897882;32938616;32983136;33912179;33968037;34087483;34171305;34357683;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36916754;37938771;7926816", "class_list": "", "function": "Component of the cytosolic iron-sulfur (Fe/S) protein assembly (CIA) machinery (PubMed:18573874). Required for maturation of extramitochondrial Fe-S proteins (PubMed:18573874). The NUBP1-NUBP2 heterotetramer forms a Fe-S scaffold complex, mediating the de novo assembly of an Fe-S cluster and its transfer to target apoproteins (PubMed:18573874). Implicated in the regulation of centrosome duplication (By similarity). Negatively regulates cilium formation and structure (By similarity)., [UniProtKB, UniProtKB, PubMed]; GLRX3 Acts as a [2Fe-2S] Cluster Chaperone in the Cytosolic Iron-Sulfur Assembly Machinery Transferring [2Fe-2S] Clusters to NUBP1., [RefSeq, PubMed]; NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The cytosolic soluble P-loop NTPase termed huNbp35 (also known as Nubp1) was identified as an Fe/S protein, and its role in the maturation of Fe/S proteins in HeLa cells, is defined., [RefSeq, PubMed]; Unraveling the mechanism of [4Fe-4S] cluster assembly on the N-terminal cluster binding site of NUBP1., [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": 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": "Q32M30;Q498A9;Q53FS7", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0000166 nucleotide binding;GO:0051536 iron-sulfur cluster binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0006879 intracellular iron ion homeostasis;GO:0001558 regulation of cell growth;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P53384-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P58180-1", "uniprot_id": "OR4D2_HUMAN", "mass": 34958.0, "length": 307, "protein_name": "Olfactory receptor 4D2", "gene_name": "OR4D2", "organism": "Human", "refseq_name": "olfactory receptor 4D2", "refseq_ac": "NP_001004707", "gene_names_uniprotkb": "OR4D2", "gene_names_refseq": "BC2009; OR17-24; OR4D2", "protein_names_uniprotkb": "Olfactory receptor 4D2; B-lymphocyte membrane protein BC2009; Olfactory receptor OR17-24", "protein_names_refseq": "B-lymphocyte membrane protein BC2009; G-protein coupled membrane protein; olfactory receptor 4D2; olfactory receptor OR17-24", "tax_id": 9606, "disease": "", "pathway": " (hsa:124538); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFN8;Q96R75", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P58180-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q02218-1", "uniprot_id": "ODO1_HUMAN", "mass": 115935.0, "length": 1023, "protein_name": "2-oxoglutarate dehydrogenase complex component E1", "gene_name": "OGDH", "organism": "Human", "refseq_name": "2-oxoglutarate dehydrogenase complex component E1 isoform 2 precursor", "refseq_ac": "NP_001003941", "gene_names_uniprotkb": "OGDH", "gene_names_refseq": "AKGDH; E1k; E1o; HsOGDH; KGD1; OGDC; OGDH-E1; OGDH2; OGDHD; OGDH", "protein_names_uniprotkb": "2-oxoglutarate dehydrogenase complex component E1; 1.2.4.2; 2-oxoglutarate dehydrogenase, mitochondrial; Alpha-KGDH-E1; Alpha-ketoglutarate dehydrogenase; E1o; HsOGDH; OGDC-E1; OGDH-E1; Thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase", "protein_names_refseq": "2-oxoglutarate dehydrogenase complex component E1 isoform 2 precursor; 2-oxoglutarate dehydrogenase complex component E1; 2-oxoglutarate dehydrogenase, mitochondrial; OGDC-E1; alpha-KGDH-E1; oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide); oxoglutarate decarboxylase; oxoglutarate dehydrogenase (succinyl-transferring); testicular tissue protein Li 131; thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase", "tax_id": 9606, "disease": "Yoon-Bellen neurodevelopmental syndrome (Disease Ontology:DOID:0070468); oxoglutarate dehydrogenase deficiency (Disease Ontology:DOID:0081326); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:4967); (R-HSA-6783984); (R-HSA-9837999); (R-HSA-9853506)", "pathway_count": 4, "publication_count": 107, "publication_id_list": "11237011;11923310;12198491;14623864;1542694;15522782;15870080;15946682;16051266;16115876;16263718;16408927;17101804;17297443;17370265;17579211;18922097;18973345;1959641;19608861;19841671;1993704;2025283;22262461;22710082;23201127;23931759;24315374;24495017;24520911;24715725;25210035;25576301;25880248;26154972;26504172;26923599;26992070;27452731;27496948;27642048;27920218;28218747;28377575;28396416;28435050;28514659;28832583;28904123;29211711;29242379;29301859;29393594;29437277;29557506;29786170;29932645;30120231;30315122;30429286;30929736;31154438;31217245;31327635;31530632;31695197;31844290;32157095;32161166;32350084;32357974;32387766;32792488;32938616;32983136;33141586;33257573;33298915;33392160;33465208;33912179;33968037;34087483;34171305;34229054;34357683;34704252;34725712;34943861;35051231;35251023;35272141;35580925;35870450;36520152;36629048;37938771;38483541;38665916;40596516;40914422;40930100;6469978;7622061;7623837;8076640;9242632", "class_list": "", "function": "2-oxoglutarate dehydrogenase (E1o) component of the 2-oxoglutarate dehydrogenase complex (OGDHC) (PubMed:24495017, PubMed:25210035, PubMed:28435050). Participates in the first step, rate limiting for the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) catalyzed by the whole OGDHC (PubMed:24495017, PubMed:25210035, PubMed:28435050). Catalyzes the irreversible decarboxylation of 2-oxoglutarate (alpha-ketoglutarate) via the thiamine diphosphate (ThDP) cofactor and subsequent transfer of the decarboxylated acyl intermediate on an oxidized dihydrolipoyl group that is covalently amidated to the E2 enzyme (dihydrolipoyllysine-residue succinyltransferase or DLST) (PubMed:24495017, PubMed:25210035, PubMed:28435050, PubMed:35272141). Plays a key role in the Krebs (citric acid) cycle, which is a common pathway for oxidation of fuel molecules, including carbohydrates, fatty acids, and amino acids (PubMed:25210035). Can catalyze the decarboxylation of 2-oxoadipate in vitro, but at a much lower rate than 2-oxoglutarate (PubMed:28435050). Can also convert 2-keto-4-hydroxyglutarate (KHG) and CoA into malyl-CoA (By similarity). Mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities., [RefSeq, PubMed]; OGDH and Bcl-xL loss causes synthetic lethality in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "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": "B4E2U9;D3DVL0;E9PBM1;Q96DD3;Q9UDX0", "ec_number_list": "2.3.3.1;7.1.1.2;3.6.4.10;1.4.1.3;1.2.1.3;6.4.1.3;7.1.2.2;4.2.1.2;1.2.4.1;1.8.1.4;5.6.1.7;2.3.1.168;2.3.1.-;2.3.1.37;4.98.1.1;1.1.1.38;2.3.1.9;1.2.1.36;1.7.1.-;1.2.1.28;3.4.21.53;2.3.1.61;1.1.1.37;5.3.3.8;1.3.8.1;1.3.8.5;1.1.1.42;3.1.2.2;1.1.1.41;2.3.3.10;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.7.11.2;2.7.11.-;3.4.21.92;1.1.1.35;2.7.1.23;6.2.1.-;6.2.1.4;5.6.2.3;1.1.1.62;1.1.1.239;1.1.1.178;1.1.1.53;1.1.1.159;4.2.1.3;6.1.1.5;2.3.1.41", "go_molecular_function": "GO:0046872 metal ion binding;GO:0051087 protein-folding chaperone binding;GO:0031072 heat shock protein binding;GO:0030976 thiamine pyrophosphate binding;GO:0004591 oxoglutarate dehydrogenase (succinyl-transferring) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0031966 mitochondrial membrane;GO:0045252 oxoglutarate dehydrogenase complex", "go_biological_process": "GO:0061034 olfactory bulb mitral cell layer development;GO:0006091 generation of precursor metabolites and energy;GO:0006099 tricarboxylic acid cycle;GO:0006103 2-oxoglutarate metabolic process;GO:0006104 succinyl-CoA metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q02218-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15615-1", "uniprot_id": "OR4D1_HUMAN", "mass": 35240.0, "length": 310, "protein_name": "Olfactory receptor 4D1", "gene_name": "OR4D1", "organism": "Human", "refseq_name": "olfactory receptor 4D1", "refseq_ac": "NP_036506", "gene_names_uniprotkb": "OR4D1; OR4D3", "gene_names_refseq": "OR17-23; OR4D1; OR4D3; OR4D4P; TPCR16", "protein_names_uniprotkb": "Olfactory receptor 4D1; Olfactory receptor 4D3; Olfactory receptor TPCR16", "protein_names_refseq": "olfactory receptor 4D1; olfactory receptor 4D3; olfactory receptor OR17-23 pseudogene; olfactory receptor TPCR16; olfactory receptor, family 4, subfamily D, member 3; olfactory receptor, family 4, subfamily D, member 4 pseudogene; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:26689); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "24800820;27515280;31974307;32066986;9119360", "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": 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": "B2RN14;Q8NGB1;Q96R76", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q15615-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15620-1", "uniprot_id": "OR8B8_HUMAN", "mass": 34482.0, "length": 311, "protein_name": "Olfactory receptor 8B8", "gene_name": "OR8B8", "organism": "Human", "refseq_name": "olfactory receptor 8B8", "refseq_ac": "NP_036510", "gene_names_uniprotkb": "OR8B8", "gene_names_refseq": "OR8B8; TPCR85", "protein_names_uniprotkb": "Olfactory receptor 8B8; Olfactory receptor TPCR85; Olfactory-like receptor JCG8", "protein_names_refseq": "olfactory receptor 8B8; olfactory receptor OR11-316; olfactory receptor TPCR85; olfactory-like receptor JCG8", "tax_id": 9606, "disease": "", "pathway": " (hsa:26493); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11705801;24800820;27515280;31974307;32066986;33091337;36241641;9119360", "class_list": "", "function": "Odorant receptor (Potential). May be involved in taste perception., [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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1L446;Q96RC8", "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:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q15620-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15622-1", "uniprot_id": "OR7A5_HUMAN", "mass": 35579.0, "length": 319, "protein_name": "Olfactory receptor 7A5", "gene_name": "OR7A5", "organism": "Human", "refseq_name": "olfactory receptor 7A5", "refseq_ac": "NP_059976", "gene_names_uniprotkb": "OR7A5", "gene_names_refseq": "HTPCR2; OR7A5", "protein_names_uniprotkb": "Olfactory receptor 7A5; Olfactory receptor OR19-17; Olfactory receptor TPCR92", "protein_names_refseq": "olfactory receptor 7A5; olfactory receptor OR19-17; olfactory receptor TPCR92; olfactory receptor, family 7, subfamily A, member 5 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:26659); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "14983052;24800820;27515280;28832583;29331515;29557506;31154438;31530632;31844290;31848261;31974307;32066986;32157095;33392160;33968037;35580925;38253038;9119360;9268701", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R682;Q6IFP1;Q96R96", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q15622-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5PT55-1", "uniprot_id": "NTCP5_HUMAN", "mass": 48871.0, "length": 438, "protein_name": "Sodium/bile acid cotransporter 5", "gene_name": "SLC10A5", "organism": "Human", "refseq_name": "sodium/bile acid cotransporter 5 precursor", "refseq_ac": "NP_001010893", "gene_names_uniprotkb": "SLC10A5", "gene_names_refseq": "P5; SLC10A5", "protein_names_uniprotkb": "Sodium/bile acid cotransporter 5; Na(+)/bile acid cotransporter 5; Solute carrier family 10 member 5", "protein_names_refseq": "Na(+)/bile acid cotransporter 5; sodium/bile acid cotransporter 5 precursor; sodium/bile acid cotransporter 5; solute carrier family 10 (sodium/bile acid cotransporter family), member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:347051)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10.1101/2023.09.13.557529;17632081;24715725;29557506;30429286;31844290;32938616;33392160;35051231", "class_list": "", "function": "Molecular cloning and characterization of SLC10A5 as an orphan carrier with yet non-identified substrates., [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": 15, "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": "B2RN26", "ec_number_list": "", "go_molecular_function": "GO:0008508 bile acid:sodium symporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0015721 bile acid and bile salt transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5PT55-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SWX8-1", "uniprot_id": "ODR4_HUMAN", "mass": 51103.0, "length": 454, "protein_name": "Protein odr-4 homolog", "gene_name": "ODR4", "organism": "Human", "refseq_name": "protein odr-4 homolog isoform 2", "refseq_ac": "NP_001157717", "gene_names_uniprotkb": "ODR4; C1orf27; TTG1A; TTG1", "gene_names_refseq": "C1orf27; ODR4; TTG1; odr-4", "protein_names_uniprotkb": "Protein odr-4 homolog; LAG1-interacting protein; Transactivated by transforming growth factor beta protein 1; hODR-4", "protein_names_refseq": "LAG1-interacting protein; odorant response abnormal 4; protein odr-4 homolog isoform 2; protein odr-4 homolog; transactivated by recombinant transforming growth factor beta 1; transactivated by transforming growth factor beta protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54953)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "15718105;18187418;25418920;25576301;27452731;27846572;27920218;28411811;28904123;29493099;29557506;30524438;30833945;31154438;31844290;31848261;32157095;32161166;32350084;32897882;32938616;32983136;33298915;33592498;33912179;33968037;33981976;34087483;35051231;35154160;35551911;35580925;36241641", "class_list": "", "function": "Human C1orf27 protein interacts with alpha2A-adrenergic receptor and regulates its anterograde transport., [RefSeq, PubMed]; LMO2, TAL1, Ttg-1, and SIL support levels of V(D)J recombination above background levels in cell culture and are also cleaved by the RAG proteins, while Hox11 and SCL are nicked but not cleaved efficiently in vitro, [RefSeq, PubMed]; May play a role in the trafficking of a subset of G protein coupled receptors., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DNY0;E9PFR7;Q19CC6;Q8WYB6;Q9BTS2;Q9H6A6;Q9NX06", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q5SWX8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TC84-1", "uniprot_id": "OGRL1_HUMAN", "mass": 51252.0, "length": 451, "protein_name": "Opioid growth factor receptor-like protein 1", "gene_name": "OGFRL1", "organism": "Human", "refseq_name": "opioid growth factor receptor-like protein 1 isoform a", "refseq_ac": "NP_001311195", "gene_names_uniprotkb": "OGFRL1", "gene_names_refseq": "OGFRL1; dJ331H24.1", "protein_names_uniprotkb": "Opioid growth factor receptor-like protein 1", "protein_names_refseq": "opioid growth factor receptor-like protein 1 isoform a; opioid growth factor receptor-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79627)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;16192744;25892735;28832583;31844290;31848261;35051231;35254053;36241641;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2TAC1;Q8NEQ4;Q9H7B5", "ec_number_list": "", "go_molecular_function": "GO:0140625 opioid growth factor receptor activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5TC84-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TZ20-1", "uniprot_id": "OR2G6_HUMAN", "mass": 34890.0, "length": 316, "protein_name": "Olfactory receptor 2G6", "gene_name": "OR2G6", "organism": "Human", "refseq_name": "olfactory receptor 2G6", "refseq_ac": "NP_001013373", "gene_names_uniprotkb": "OR2G6", "gene_names_refseq": "OR2G6", "protein_names_uniprotkb": "Olfactory receptor 2G6", "protein_names_refseq": "olfactory receptor 2G6", "tax_id": 9606, "disease": "", "pathway": " (hsa:391211); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "24715725;24800820;27515280;28228285;29557506;31974307;32066986;33968037;34509645", "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": 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": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RP33", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q5TZ20-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VVY1-1", "uniprot_id": "NTM1B_HUMAN", "mass": 32400.0, "length": 283, "protein_name": "N-terminal Xaa-Pro-Lys N-methyltransferase 2", "gene_name": "NTMT2", "organism": "Human", "refseq_name": "N-terminal Xaa-Pro-Lys N-methyltransferase 2", "refseq_ac": "NP_001129579", "gene_names_uniprotkb": "NTMT2; C1orf184; METTL11B; NRMT2", "gene_names_refseq": "C1orf184; HOMT1B; METTL11B; NTM1B; NTMT2", "protein_names_uniprotkb": "N-terminal Xaa-Pro-Lys N-methyltransferase 2; 2.1.1.299; Alpha N-terminal protein methyltransferase 1B; Methyltransferase-like protein 11B; NTM1B; X-Pro-Lys N-terminal protein methyltransferase 1B", "protein_names_refseq": "N-terminal Xaa-Pro-Lys N-methyltransferase 2; X-Pro-Lys N-terminal protein methyltransferase 1B; alpha N-terminal protein methyltransferase 1B; methyltransferase like 11B; methyltransferase-like protein 11B", "tax_id": 9606, "disease": "", "pathway": " (hsa:149281)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "24090352;28228285;30379171;30417120;31844290;35051231", "class_list": "", "function": "Alpha N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes monomethylation of exposed alpha-amino group of Ala or Ser residue in the [Ala/Ser]-Pro-Lys motif and Pro in the Pro-Pro-Lys motif (PubMed:24090352, PubMed:30417120). Predominantly functions as a mono-methyltransferase but is also able to di-/tri-methylate the GPKRIA peptide and di-methylate the PPKRIA peptide (in vitro) (PubMed:30417120). May activate NTMT1 by priming its substrates for trimethylation (PubMed:24090352)., [UniProtKB, PubMed, PubMed]; Concurrent expression of NRMT1 and NRMT2 accelerates the production of trimethylation, and we propose that NRMT2 activates NRMT1 by priming its substrates for trimethylation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RXI0", "ec_number_list": "2.1.1.299", "go_molecular_function": "GO:0071885 N-terminal protein N-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006480 N-terminal protein amino acid methylation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q5VVY1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86X67-1", "uniprot_id": "NUD13_HUMAN", "mass": 39688.0, "length": 352, "protein_name": "NAD(P)H pyrophosphatase NUDT13, mitochondrial", "gene_name": "NUDT13", "organism": "Human", "refseq_name": "NAD(P)H pyrophosphatase NUDT13, mitochondrial isoform b", "refseq_ac": "NP_001269943", "gene_names_uniprotkb": "NUDT13", "gene_names_refseq": "NUDT13", "protein_names_uniprotkb": "NAD(P)H pyrophosphatase NUDT13, mitochondrial; 3.6.1.22; Nucleoside diphosphate-linked moiety X motif 13; Nudix motif 13; Protein KiSS-16", "protein_names_refseq": "NAD(P)H pyrophosphatase NUDT13, mitochondrial isoform b; NAD(P)H pyrophosphatase NUDT13, mitochondrial; nucleoside diphosphate-linked moiety X motif 13; nudix (nucleoside diphosphate linked moiety X)-type motif 13; nudix motif 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:25961); (R-HSA-499943)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16373698;16385451;16756507;16820675;17320107;177353;17824959;18469;1851158;18635542;18997010;19176520;19220460;19766732;20877624;21080915;211388;211390;22847445;23416111;2542324;2656695;2668278;32488085;32983136;39894887;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9488696;9677297", "class_list": "", "function": "NAD(P)H pyrophosphatase that hydrolyzes NADH into NMNH and AMP, and NADPH into NMNH and 2',5'-ADP. Has a marked preference for the reduced pyridine nucleotides. Does not show activity toward NAD-capped RNAs; the NAD-cap is an atypical cap present at the 5'-end of some RNAs., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DV90;O95650;Q5SQM4;Q5SQM5;Q5SQM6;Q9Y3X2", "ec_number_list": "3.6.1.22;3.6.1.18;2.7.7.2;3.6.1.-;3.1.-.-", "go_molecular_function": "GO:0000210 NAD+ diphosphatase activity;GO:0016462 pyrophosphatase activity;GO:0046872 metal ion binding;GO:0035529 NADH pyrophosphatase activity;GO:0010943 NADPH pyrophosphatase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0015949 nucleobase-containing small molecule interconversion", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q86X67-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N0Y5-1", "uniprot_id": "OR8I2_HUMAN", "mass": 34661.0, "length": 310, "protein_name": "Olfactory receptor 8I2", "gene_name": "OR8I2", "organism": "Human", "refseq_name": "olfactory receptor 8I2", "refseq_ac": "NP_001003750", "gene_names_uniprotkb": "OR8I2", "gene_names_refseq": "OR11-170; OR8I2", "protein_names_uniprotkb": "Olfactory receptor 8I2; Olfactory receptor OR11-170", "protein_names_refseq": "olfactory receptor 8I2; olfactory receptor OR11-170", "tax_id": 9606, "disease": "", "pathway": " (hsa:120586); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24715725;24800820;27515280;31974307;32066986", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNN4;Q6IFC0;Q96RC5", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N0Y5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N146-1", "uniprot_id": "OR8H3_HUMAN", "mass": 35219.0, "length": 312, "protein_name": "Olfactory receptor 8H3", "gene_name": "OR8H3", "organism": "Human", "refseq_name": "olfactory receptor 8H3", "refseq_ac": "NP_001005201", "gene_names_uniprotkb": "OR8H3", "gene_names_refseq": "OR11-172; OR8H3", "protein_names_uniprotkb": "Olfactory receptor 8H3; Olfactory receptor OR11-172", "protein_names_refseq": "olfactory receptor 8H3; olfactory receptor OR11-172", "tax_id": 9606, "disease": "", "pathway": " (hsa:390152); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "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": 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": 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": "Q6IFB7", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N146-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG75-1", "uniprot_id": "OR5T1_HUMAN", "mass": 36885.0, "length": 326, "protein_name": "Olfactory receptor 5T1", "gene_name": "OR5T1", "organism": "Human", "refseq_name": "olfactory receptor 5T1", "refseq_ac": "NP_001004745", "gene_names_uniprotkb": "OR5T1; OR5T1P", "gene_names_refseq": "OR11-179; OR5T1P; OR5T1", "protein_names_uniprotkb": "Olfactory receptor 5T1; Olfactory receptor OR11-179", "protein_names_refseq": "olfactory receptor 5T1; olfactory receptor OR11-179; olfactory receptor, family 5, subfamily T, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:390155); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31844290;31974307;32066986;35051231", "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": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RNM9", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NG75-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG81-1", "uniprot_id": "OR2M7_HUMAN", "mass": 34902.0, "length": 312, "protein_name": "Olfactory receptor 2M7", "gene_name": "OR2M7", "organism": "Human", "refseq_name": "olfactory receptor 2M7", "refseq_ac": "NP_001004691", "gene_names_uniprotkb": "OR2M7", "gene_names_refseq": "OR1-58; OR2M7", "protein_names_uniprotkb": "Olfactory receptor 2M7; Olfactory receptor OR1-58", "protein_names_refseq": "OR2M7 D; OR2M7 N; OR2M7 O; olfactory receptor 2M7; olfactory receptor OR1-58", "tax_id": 9606, "disease": "", "pathway": " (hsa:391196); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;20585627;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; 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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNL0;Q6IEX6", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8NG81-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG83-1", "uniprot_id": "OR2M3_HUMAN", "mass": 34827.0, "length": 312, "protein_name": "Olfactory receptor 2M3", "gene_name": "OR2M3", "organism": "Human", "refseq_name": "olfactory receptor 2M3", "refseq_ac": "NP_001004689", "gene_names_uniprotkb": "OR2M3; OR2M3P; OR2M6", "gene_names_refseq": "OR1-54; OR2M3P; OR2M3; OR2M6; OST003", "protein_names_uniprotkb": "Olfactory receptor 2M3; Olfactory receptor 2M6; Olfactory receptor OR1-54", "protein_names_refseq": "novel 7 transmembrane receptor (rhodopsin family) protein; olfactory receptor 2M3; olfactory receptor 2M6; olfactory receptor OR1-54; olfactory receptor, family 2, subfamily M, member 3 pseudogene; olfactory receptor, family 2, subfamily M, member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:127062); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31435697;31974307;32066986;35051231", "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]; This work shows that the specific thiol function of human OR2M3 is modulated by copper ions. The homology modeling/docking studies together with receptor functional expression studies suggest that this copper sensitivity is mediated by two copper-binding sites within narrowly tuned OR2M3., [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": 28, "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": "B9EH06;Q6IEY0", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NG83-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG95-1", "uniprot_id": "OR7G3_HUMAN", "mass": 34439.0, "length": 312, "protein_name": "Olfactory receptor 7G3", "gene_name": "OR7G3", "organism": "Human", "refseq_name": "olfactory receptor 7G3", "refseq_ac": "NP_001001958", "gene_names_uniprotkb": "OR7G3", "gene_names_refseq": "OR7G3; OST085", "protein_names_uniprotkb": "Olfactory receptor 7G3; OST085; Olfactory receptor OR19-9", "protein_names_refseq": "olfactory receptor 7G3; olfactory receptor OR19-9", "tax_id": 9606, "disease": "", "pathway": " (hsa:390883); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;18491316;22044667;24800820;27515280;31154438;31974307;32066986;33392160", "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]; The SNP in the OR7G3 gene (rs10414255) was found to be associated with adiposity and eating behaviors., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6IFJ6;Q96R99", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory 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": "Q8NG95-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NG99-1", "uniprot_id": "OR7G2_HUMAN", "mass": 35931.0, "length": 324, "protein_name": "Olfactory receptor 7G2", "gene_name": "OR7G2", "organism": "Human", "refseq_name": "olfactory receptor 7G2", "refseq_ac": "NP_001005193", "gene_names_uniprotkb": "OR7G2", "gene_names_refseq": "OR19-6; OR7G2; OST260", "protein_names_uniprotkb": "Olfactory receptor 7G2; OR19-13; OST260; Olfactory receptor 19-13; Olfactory receptor OR19-6", "protein_names_refseq": "OR19-13; olfactory receptor 19-13; olfactory receptor 7G2; olfactory receptor OR19-6", "tax_id": 9606, "disease": "", "pathway": " (hsa:390882); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31530632;31974307;32066986;32387766;35580925", "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": 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": "Q6IFJ4;Q96RA0", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8NG99-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGC5-1", "uniprot_id": "OR6J1_HUMAN", "mass": 38683.0, "length": 347, "protein_name": "Olfactory receptor 6J1", "gene_name": "OR6J1", "organism": "Human", "refseq_name": "olfactory receptor 6J1", "refseq_ac": "NP_001335162", "gene_names_uniprotkb": "OR6J1; OR6J2", "gene_names_refseq": "OR6J1P; OR6J1; OR6J2", "protein_names_uniprotkb": "Olfactory receptor 6J1; Olfactory receptor 6J2", "protein_names_refseq": "olfactory receptor 6J1; olfactory receptor 6J2; olfactory receptor, family 6, subfamily J, member 1 pseudogene; olfactory receptor, family 6, subfamily J, member 2; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:79549); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "24800820;27515280;31974307;32066986", "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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NGC5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGD2-1", "uniprot_id": "OR4K2_HUMAN", "mass": 35357.0, "length": 314, "protein_name": "Olfactory receptor 4K2", "gene_name": "OR4K2", "organism": "Human", "refseq_name": "olfactory receptor 4K2", "refseq_ac": "NP_001005501", "gene_names_uniprotkb": "OR4K2", "gene_names_refseq": "OR14-15; OR4K2", "protein_names_uniprotkb": "Olfactory receptor 4K2; Olfactory receptor OR14-15", "protein_names_refseq": "olfactory receptor 4K2; olfactory receptor OR14-15", "tax_id": 9606, "disease": "", "pathway": " (hsa:390431); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;29557506;31974307;32066986;33592498;35051231", "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": 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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNK8;Q6IFA5", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGD2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGE8-1", "uniprot_id": "OR4D9_HUMAN", "mass": 35666.0, "length": 314, "protein_name": "Olfactory receptor 4D9", "gene_name": "OR4D9", "organism": "Human", "refseq_name": "olfactory receptor 4D9", "refseq_ac": "NP_001004711", "gene_names_uniprotkb": "OR4D9", "gene_names_refseq": "OR11-253; OR4D9", "protein_names_uniprotkb": "Olfactory receptor 4D9; Olfactory receptor OR11-253", "protein_names_refseq": "olfactory receptor 4D9; olfactory receptor OR11-253; olfactory receptor, family 4, subfamily D, member 9 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:390199); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;29557506;31974307;32066986", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFF3", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGE8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGG6-1", "uniprot_id": "OR8BC_HUMAN", "mass": 34372.0, "length": 310, "protein_name": "Olfactory receptor 8B12", "gene_name": "OR8B12", "organism": "Human", "refseq_name": "olfactory receptor 8B12", "refseq_ac": "NP_001005195", "gene_names_uniprotkb": "OR8B12", "gene_names_refseq": "OR11-317; OR8B12", "protein_names_uniprotkb": "Olfactory receptor 8B12; Olfactory receptor OR11-317", "protein_names_refseq": "olfactory receptor 8B12; olfactory receptor OR11-317", "tax_id": 9606, "disease": "", "pathway": " (hsa:219858); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;29557506;31974307;32066986;35051231;36215666", "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": 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": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RNF6;Q6IEW8;Q96RC7", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGG6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGI4-1", "uniprot_id": "OR4DB_HUMAN", "mass": 34969.0, "length": 311, "protein_name": "Olfactory receptor 4D11", "gene_name": "OR4D11", "organism": "Human", "refseq_name": "olfactory receptor 4D11", "refseq_ac": "NP_001004706", "gene_names_uniprotkb": "OR4D11; OR4D11P", "gene_names_refseq": "OR4D11P; OR4D11", "protein_names_uniprotkb": "Olfactory receptor 4D11", "protein_names_refseq": "olfactory receptor 4D11; olfactory receptor OR11-252 pseudogene; olfactory receptor, family 4, subfamily D, member 11 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:219986); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "24800820;27515280;29242379;30779550;31974307;32066986;34509645;35051231", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGI4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGI6-1", "uniprot_id": "OR4DA_HUMAN", "mass": 35300.0, "length": 311, "protein_name": "Olfactory receptor 4D10", "gene_name": "OR4D10", "organism": "Human", "refseq_name": "olfactory receptor 4D10", "refseq_ac": "NP_001004705", "gene_names_uniprotkb": "OR4D10; OR4D10P", "gene_names_refseq": "OR11-251; OR4D10P; OR4D10; OST711", "protein_names_uniprotkb": "Olfactory receptor 4D10; Olfactory receptor OR11-251", "protein_names_refseq": "olfactory receptor 4D10; olfactory receptor OR11-251; olfactory receptor, family 4, subfamily D, member 10 pseudogene; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:390197); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;29557506;31974307;32066986;35051231", "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": 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": 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": "B2RNH6", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGI6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGJ1-1", "uniprot_id": "OR4D6_HUMAN", "mass": 35954.0, "length": 314, "protein_name": "Olfactory receptor 4D6", "gene_name": "OR4D6", "organism": "Human", "refseq_name": "olfactory receptor 4D6", "refseq_ac": "NP_001004708", "gene_names_uniprotkb": "OR4D6", "gene_names_refseq": "OR11-250; OR4D6", "protein_names_uniprotkb": "Olfactory receptor 4D6; Olfactory receptor OR11-250", "protein_names_refseq": "olfactory receptor 4D6; olfactory receptor OR11-250", "tax_id": 9606, "disease": "", "pathway": " (hsa:219983); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;24800820;27515280;29485866;31844290;31974307;32066986;33912179;35113854", "class_list": "", "function": "From musk to body odor: Decoding olfaction through genetic variation. Publication Status: Online-Only, [RefSeq, PubMed]; 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": 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": "B2RNP7;Q6IFF5;Q96R74", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8NGJ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGM1-1", "uniprot_id": "OR4CF_HUMAN", "mass": 35667.0, "length": 316, "protein_name": "Olfactory receptor 4C15", "gene_name": "OR4C15", "organism": "Human", "refseq_name": "olfactory receptor 4C15", "refseq_ac": "NP_001001920", "gene_names_uniprotkb": "OR4C15", "gene_names_refseq": "OR11-127; OR11-134; OR4C15", "protein_names_uniprotkb": "Olfactory receptor 4C15; Olfactory receptor OR11-127; Olfactory receptor OR11-134", "protein_names_refseq": "olfactory receptor 4C15; olfactory receptor OR11-127; olfactory receptor OR11-134", "tax_id": 9606, "disease": "", "pathway": " (hsa:81309); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11237011;14983052;22544926;24800820;27515280;29557506;31974307;32066986;32488085", "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": 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": "Q6IFE2", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGM1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGM8-1", "uniprot_id": "OR6M1_HUMAN", "mass": 35328.0, "length": 313, "protein_name": "Olfactory receptor 6M1", "gene_name": "OR6M1", "organism": "Human", "refseq_name": "olfactory receptor 6M1", "refseq_ac": "NP_001005325", "gene_names_uniprotkb": "OR6M1", "gene_names_refseq": "OR11-271; OR6M1", "protein_names_uniprotkb": "Olfactory receptor 6M1; Olfactory receptor OR11-271", "protein_names_refseq": "olfactory receptor 6M1; olfactory receptor OR11-271; olfactory receptor, family 6, subfamily M, member 2 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:390261); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;20934997;24800820;27515280;31974307;32066986;32387766", "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": 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": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RNK0;Q6IEW9;Q96R37", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGM8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGN0-1", "uniprot_id": "OR4D5_HUMAN", "mass": 35771.0, "length": 318, "protein_name": "Olfactory receptor 4D5", "gene_name": "OR4D5", "organism": "Human", "refseq_name": "olfactory receptor 4D5", "refseq_ac": "NP_001001965", "gene_names_uniprotkb": "OR4D5", "gene_names_refseq": "OR11-276; OR4D5", "protein_names_uniprotkb": "Olfactory receptor 4D5; Olfactory receptor OR11-276", "protein_names_refseq": "olfactory receptor 4D5; olfactory receptor OR11-276", "tax_id": 9606, "disease": "", "pathway": " (hsa:219875); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;18491316;24800820;27515280;29557506;31974307;32066986;35051231", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EGZ4;Q6IFE6", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGN0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGS2-1", "uniprot_id": "OR1J2_HUMAN", "mass": 35385.0, "length": 313, "protein_name": "Olfactory receptor 1J2", "gene_name": "OR1J2", "organism": "Human", "refseq_name": "olfactory receptor 1J2", "refseq_ac": "NP_473448", "gene_names_uniprotkb": "OR1J2; OR1J3; OR1J5", "gene_names_refseq": "HG152; HSA5; OR1J2; OR1J3; OR1J5; OR9-19; OST044", "protein_names_uniprotkb": "Olfactory receptor 1J2; HSA5; HTPCRX15; OST044; Olfactory receptor 1J3; Olfactory receptor 1J5; Olfactory receptor OR9-19", "protein_names_refseq": "HTPCRX15; olfactory receptor 1J2; olfactory receptor 1J3; olfactory receptor 1J5; olfactory receptor OR9-19; olfactory receptor, family 1, subfamily J, member 3; olfactory receptor, family 1, subfamily J, member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:26740); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "10706615;1370859;14983052;24800820;26758079;27515280;29557506;30779550;31974307;32066986;34087483;34357683;35051231", "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": 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": "A3KFL9;Q6IF14;Q96R90;Q9NZP1", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8NGS2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGT5-1", "uniprot_id": "OR9A2_HUMAN", "mass": 35330.0, "length": 310, "protein_name": "Olfactory receptor 9A2", "gene_name": "OR9A2", "organism": "Human", "refseq_name": "olfactory receptor 9A2", "refseq_ac": "NP_001001658", "gene_names_uniprotkb": "OR9A2", "gene_names_refseq": "OR9A2", "protein_names_uniprotkb": "Olfactory receptor 9A2; Olfactory receptor OR7-2", "protein_names_refseq": "olfactory receptor 9A2; olfactory receptor OR7-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:135924); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "12732197;14983052;23481700;24715725;24800820;27515280;29557506;31844290;31974307;32066986;32357974;32938616;35051231", "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]; This publication uses 'GPR139' as a name for this gene., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EH51;Q6IF71;Q8NGD9", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8NGT5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGU2-1", "uniprot_id": "OR9A4_HUMAN", "mass": 35758.0, "length": 314, "protein_name": "Olfactory receptor 9A4", "gene_name": "OR9A4", "organism": "Human", "refseq_name": "olfactory receptor 9A4", "refseq_ac": "NP_001001656", "gene_names_uniprotkb": "OR9A4", "gene_names_refseq": "OR9A4", "protein_names_uniprotkb": "Olfactory receptor 9A4; Olfactory receptor OR7-1", "protein_names_refseq": "olfactory receptor 9A4; olfactory receptor OR7-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:130075); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;33141586;35051231;36010968", "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": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B9EGV6;Q6IFI4", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGX8-1", "uniprot_id": "OR6Y1_HUMAN", "mass": 36636.0, "length": 325, "protein_name": "Olfactory receptor 6Y1", "gene_name": "OR6Y1", "organism": "Human", "refseq_name": "olfactory receptor 6Y1", "refseq_ac": "NP_001005189", "gene_names_uniprotkb": "OR6Y1; OR6Y2", "gene_names_refseq": "OR1-11; OR6Y1; OR6Y2", "protein_names_uniprotkb": "Olfactory receptor 6Y1; Olfactory receptor 6Y2; Olfactory receptor OR1-11", "protein_names_refseq": "olfactory receptor 6Y1; olfactory receptor 6Y2; olfactory receptor OR1-11", "tax_id": 9606, "disease": "", "pathway": " (hsa:391112); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;32387766", "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": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFS0", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGX8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGX9-1", "uniprot_id": "OR6P1_HUMAN", "mass": 35831.0, "length": 317, "protein_name": "Olfactory receptor 6P1", "gene_name": "OR6P1", "organism": "Human", "refseq_name": "olfactory receptor 6P1", "refseq_ac": "NP_001153797", "gene_names_uniprotkb": "OR6P1", "gene_names_refseq": "OR6P1", "protein_names_uniprotkb": "Olfactory receptor 6P1; Olfactory receptor OR1-12", "protein_names_refseq": "olfactory receptor 6P1; olfactory receptor OR1-12; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:128366); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;29242379;29557506;30429286;31040214;31974307;32066986", "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": 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": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFR9", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8NGX9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGZ6-1", "uniprot_id": "OR6F1_HUMAN", "mass": 33961.0, "length": 308, "protein_name": "Olfactory receptor 6F1", "gene_name": "OR6F1", "organism": "Human", "refseq_name": "olfactory receptor 6F1", "refseq_ac": "NP_001005286", "gene_names_uniprotkb": "OR6F1", "gene_names_refseq": "OR1-34; OR1-38; OR6F1; OST731", "protein_names_uniprotkb": "Olfactory receptor 6F1; Olfactory receptor OR1-38", "protein_names_refseq": "olfactory receptor 6F1; olfactory receptor OR1-34 pseudogene; olfactory receptor OR1-38", "tax_id": 9606, "disease": "", "pathway": " (hsa:343169); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;30418433;31040214;31974307;32066986", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNV6;Q6IF02;Q96R39", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8NGZ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHA8-1", "uniprot_id": "OR1FC_HUMAN", "mass": 36933.0, "length": 337, "protein_name": "Putative olfactory receptor 1F12P", "gene_name": "OR1F12P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "OR1F12P; OR1F12", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative olfactory receptor 1F12P; Hs6M1-35P", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "24800820;25576301;27515280;31974307;32066986;35051231;35494241;38253038", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NHA8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q93086-6", "uniprot_id": "P2RX5_HUMAN", "mass": 49303.0, "length": 444, "protein_name": "P2X purinoceptor 5", "gene_name": "P2RX5", "organism": "Human", "refseq_name": "P2X purinoceptor 5 isoform D", "refseq_ac": "NP_001191448", "gene_names_uniprotkb": "P2RX5; P2X5FL; P2X5", "gene_names_refseq": "LRH-1; P2RX5; P2X5R; P2X5", "protein_names_uniprotkb": "P2X purinoceptor 5; ATP receptor; P2X5; Purinergic receptor", "protein_names_refseq": "ATP receptor subunit; P2X purinoceptor 5 isoform D; P2X purinoceptor 5; ionotropic ATP receptor P2X5; lymphoid-restricted histocompatibility antigen-1; purinergic receptor P2X, ligand gated ion channel, 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:5026); (R-HSA-139853); (R-HSA-418346)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;10228183;10673275;11805119;12761352;12787128;12907444;17001079;20223879;21882811;23022467;23481700;24190977;2457808;24868547;25080478;25181038;25707358;28228285;28832583;28834231;29242379;29643231;31154438;37074911;8646775;9414125;9494101;9565569;9930701", "class_list": "", "function": "ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and calcium (PubMed:12761352). Unlike other P2RX receptors, the P2X5 receptor is also permeable to chloride (PubMed:12761352). May play a supporting role in the inflammatory response (By similarity)., [UniProtKB, PubMed, UniProtKB]; Analysis of topology, helix-helix interactions, and oligomerization of P2X5 subunits, [RefSeq, PubMed]; Different purinergic receptors have different functional roles in human epidermis with P2Y1 and P2Y2 receptors controlling proliferation, while P2X5 and P2X7 receptors control early differentiation, terminal differentiation and death of keratinocytes., [RefSeq, PubMed]; Non-functional., [UniProtKB, PubMed]; Sensory proteins P2X3 and TRPV1 are in correlation with urothelial differentiation, while P2X5 and TRPV4 have unique expression patterns, [RefSeq, PubMed]; The amino acid transporter PAT2 and the purinergic receptor P2RX5 are cell surface markers expressed in classical brown and beige adipocytes., [RefSeq, PubMed]; The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]., [RefSeq]; These data indicate a functional role of the human P2RX5 splice variant in T cell activation and immunoregulation. 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": 1, "reported_glycation": 0, "reported_snv": 17, "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": "A0A8V8TLD3;G5E981;O43450;O75540;Q308M5;Q59F38;Q8IXW4;Q93087;Q9NZV0", "ec_number_list": "1.8.-.-;1.8.5.1;1.11.1.-;5.6.1.6;2.7.11.1", "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005216 monoatomic ion channel activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0005244 voltage-gated monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0098794 postsynapse", "go_biological_process": "GO:0036179 osteoclast maturation;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0010043 response to zinc ion;GO:0051592 response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q93086-6", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96R28-1", "uniprot_id": "OR2M2_HUMAN", "mass": 39177.0, "length": 347, "protein_name": "Olfactory receptor 2M2", "gene_name": "OR2M2", "organism": "Human", "refseq_name": "olfactory receptor 2M2", "refseq_ac": "NP_001004688", "gene_names_uniprotkb": "OR2M2", "gene_names_refseq": "OR2M2Q; OR2M2; OST423", "protein_names_uniprotkb": "Olfactory receptor 2M2; OST423", "protein_names_refseq": "olfactory receptor 2M2", "tax_id": 9606, "disease": "", "pathway": " (hsa:391194); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "10460249;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986;37586771", "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": 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": 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": "A3KFT4", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q96R28-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96R45-1", "uniprot_id": "OR2A7_HUMAN", "mass": 34742.0, "length": 310, "protein_name": "Olfactory receptor 2A7", "gene_name": "OR2A7", "organism": "Human", "refseq_name": "olfactory receptor 2A7", "refseq_ac": "NP_001005328", "gene_names_uniprotkb": "OR2A7", "gene_names_refseq": "HSDJ0798C17; OR2A21; OR2A7", "protein_names_uniprotkb": "Olfactory receptor 2A7; Olfactory receptor OR7-18", "protein_names_refseq": "olfactory receptor 2A7; olfactory receptor OR7-18; olfactory receptor OR7-20; olfactory receptor, family 2, subfamily A, member 21", "tax_id": 9606, "disease": "", "pathway": " (hsa:401427); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27315375;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986", "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]; Proliferation tests, ELISA and kinase array indicated that OR2A4/7 and CHS play important roles in the proliferation of HaCaT cells and keratinocytes., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B2RN57;Q6IFP4", "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:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96R45-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96R84-1", "uniprot_id": "OR1F2_HUMAN", "mass": 34944.0, "length": 312, "protein_name": "Putative olfactory receptor 1F2", "gene_name": "OR1F2P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "OR1F2P; OR1F2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative olfactory receptor 1F2; OLFmf2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "35051231;9653642", "class_list": "", "function": "Odorant receptor., [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:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q96R84-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96RC9-1", "uniprot_id": "OR8B4_HUMAN", "mass": 34404.0, "length": 309, "protein_name": "Olfactory receptor 8B4", "gene_name": "OR8B4", "organism": "Human", "refseq_name": "olfactory receptor 8B4", "refseq_ac": "NP_001005196", "gene_names_uniprotkb": "OR8B4; OR8B4P", "gene_names_refseq": "OR11-315; OR8B4P; OR8B4", "protein_names_uniprotkb": "Olfactory receptor 8B4; Olfactory receptor OR11-315", "protein_names_refseq": "olfactory receptor 8B4; olfactory receptor OR11-315; olfactory receptor, family 8, subfamily B, member 4 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:283162); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]., [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": 23, "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": "B2RNF8;Q6IFQ7", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q96RC9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99650-1", "uniprot_id": "OSMR_HUMAN", "mass": 110509.0, "length": 979, "protein_name": "Oncostatin-M-specific receptor subunit beta", "gene_name": "OSMR", "organism": "Human", "refseq_name": "oncostatin-M-specific receptor subunit beta isoform 2 precursor", "refseq_ac": "NP_001161827", "gene_names_uniprotkb": "OSMR; OSMRB", "gene_names_refseq": "IL-31R-beta; IL-31RB; OSMRB; OSMRbeta; OSMR; PLCA1", "protein_names_uniprotkb": "Oncostatin-M-specific receptor subunit beta; IL-31 receptor subunit beta; IL-31R subunit beta; IL-31R-beta; IL-31RB; Interleukin-31 receptor subunit beta; OSMRbeta", "protein_names_refseq": "IL-31 receptor subunit beta; IL-31R subunit beta; interleukin-31 receptor subunit beta; oncostatin-M specific receptor beta subunit; oncostatin-M-specific receptor subunit beta isoform 2 precursor; oncostatin-M-specific receptor subunit beta", "tax_id": 9606, "disease": "primary cutaneous amyloidosis (Disease Ontology:DOID:0050639); primary localized cutaneous amyloidosis 1 (Disease Ontology:DOID:0080930)", "pathway": " (hsa:9180); (R-HSA-6788467)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;10586060;10812968;10966616;11016927;11237011;11834704;11943154;12601009;12707266;12811586;15184896;15450249;15519241;15627637;16051226;18083107;18179886;18669648;19690585;19920145;20068231;21261663;21715184;23090970;24190977;25576301;2779549;27846572;28871256;29317506;29331515;29351928;29391424;29557506;29671580;29789417;30833945;31154438;31844290;32157095;32161166;32357974;32488085;32938616;33592498;33912179;33968037;33981976;34078123;34171305;35051231;35163735;35321549;35580925;36010968;36207791;36215666;36284347;37074911;37098986;37938771;7670098;7738033;7852997;7862649;7957045;8119965;8272873;8390097;8627290;8637716;8999038;9188471;9238703", "class_list": "", "function": "Association of oncostatin M receptor polymorphisms with clinical recurrence of ovarian cancer in the Chinese Han population., [RefSeq, PubMed]; Decreased Serum Levels of Soluble Oncostatin M Receptor (sOSMR) and Glycoprotein 130 (sgp130) in Patients with Coronary Artery Disease., [RefSeq, PubMed]; Functions as a shared membrane-bound signal-transducing subunit in two distinct receptor complexes, the type II OSM receptor (heterodimer composed of OSMR and IL6ST) and the IL31 receptor complex (heterodimer composed of OSMR and IL31RA) which respectively bind OSM and IL31 (PubMed:15184896, PubMed:15627637, PubMed:8999038). Functionally, OSM signaling via OSMR/IL6ST regulates many processes including cell proliferation, cell differentiation, cytokine production, whereas the IL31 signaling via OSMR/IL31RA is particularly important in skin immunity (PubMed:15184896, PubMed:8999038). Mechanistically, in both the OSM-IL6ST/gp130-OSMR and IL31-IL31RA-OSMR complexes, receptor dimerization activates JAK1 and JAK2 (and to a lesser extent TYK2) associated with the intracellular domains of IL6ST/gp130 and OSMR (or IL31RA and OSMR) (PubMed:15627637, PubMed:8999038, PubMed:9188471). These kinases phosphorylate tyrosine residues on IL6ST/gp130 and OSMR (or IL31RA and OSMR), creating docking sites for STAT1, STAT3, and STAT5B, which are then phosphorylated and activated (PubMed:15627637, PubMed:9188471). In addition, the IL31 receptor complex activates the MAPK pathway (MAPK3/ERK1-MAPK1/ERK2) via recruitment of the adapter protein SHC1 (PubMed:15627637)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Oncostatin M receptor is overexpressed in oral squamous cell carcinoma and connected to poor prognosis., [RefSeq, PubMed]; The Role of Oncostatin M and Its Receptor Complexes in Cardiomyocyte Protection, Regeneration, and Failure. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleukin 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. 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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 13, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 24, "disease_count": 2, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q6P4E8;Q96QJ6", "ec_number_list": "", "go_molecular_function": "GO:0019838 growth factor binding;GO:0019955 cytokine binding;GO:0004896 cytokine receptor activity;GO:0005127 ciliary neurotrophic factor receptor binding", "go_cellular_component": "GO:0005900 oncostatin-M receptor complex;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0038165 oncostatin-M-mediated signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0002675 positive regulation of acute inflammatory response;GO:0034097 response to cytokine;GO:0019221 cytokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q99650-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQT8-1", "uniprot_id": "ODC_HUMAN", "mass": 33303.0, "length": 299, "protein_name": "Mitochondrial 2-oxodicarboxylate carrier", "gene_name": "SLC25A21", "organism": "Human", "refseq_name": "mitochondrial 2-oxodicarboxylate carrier isoform 2", "refseq_ac": "NP_001164641", "gene_names_uniprotkb": "SLC25A21; ODC", "gene_names_refseq": "MTDPS18; ODC1; ODC; SLC25A21", "protein_names_uniprotkb": "Mitochondrial 2-oxodicarboxylate carrier; Mitochondrial 2-oxoadipate carrier; ODC; Solute carrier family 25 member 21", "protein_names_refseq": "mitochondrial 2-oxoadipate carrier; mitochondrial 2-oxodicarboxylate carrier isoform 2; mitochondrial 2-oxodicarboxylate carrier; solute carrier family 25 (mitochondrial oxoadipate carrier), member 21; solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 18 (Disease Ontology:DOID:0070449)", "pathway": " (hsa:89874); (R-HSA-71064)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10642506;10775527;11083877;12126930;15274622;16491085;17242435;18056995;18056996;18775954;19240061;19885858;19913121;20628086;20877624;22241472;23266187;23481700;23783831;24043460;25931162;29517768;32350084;35251023;37937641;6434529", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SLC25A21 downregulation promotes KRAS-mutant colorectal cancer progression by increasing glutamine anaplerosis. Publication Status: Online-Only, [RefSeq, PubMed]; SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]., [RefSeq]; Transports dicarboxylates across the inner membranes of mitochondria by a counter-exchange mechanism (PubMed:11083877). Can transport 2-oxoadipate (2-oxohexanedioate), 2-oxoglutarate, adipate (hexanedioate), glutarate, and to a lesser extent, pimelate (heptanedioate), 2-oxopimelate (2-oxoheptanedioate), 2-aminoadipate (2-aminohexanedioate), oxaloacetate, and citrate (PubMed:11083877). Plays a central role in catabolism of lysine, hydroxylysine, and tryptophan, by transporting common metabolite intermediates (such as 2-oxoadipate) into the mitochondria, where it is converted into acetyl-CoA and can enter the citric acid (TCA) cycle (Probable)., [UniProtKB, PubMed, PubMed]; We identified a novel pathogenic variant in a patient by whole-exome sequencing. The pathogenicity of the mutation was studied by transport assays, computer modeling, followed by targeted metabolic testing and in vitro studies in human fibroblasts and neurons Erratum:[Genet Med. 2019 Sep;21(9):2163-2164. doi: 10.1038/s41436-019-0506-1. PMID: 31028354], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8K0L0;G3V4L5;Q3MJ99", "ec_number_list": "", "go_molecular_function": "GO:0015139 alpha-ketoglutarate transmembrane transporter activity;GO:0015297 antiporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006554 lysine catabolic process;GO:0006869 lipid transport;GO:1990550 mitochondrial alpha-ketoglutarate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9BQT8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXB5-1", "uniprot_id": "OSB10_HUMAN", "mass": 83970.0, "length": 764, "protein_name": "Oxysterol-binding protein-related protein 10", "gene_name": "OSBPL10", "organism": "Human", "refseq_name": "oxysterol-binding protein-related protein 10 isoform 2", "refseq_ac": "NP_001167531", "gene_names_uniprotkb": "OSBPL10; ORP10; OSBP9", "gene_names_refseq": "ORP10; OSBP9; OSBPL10", "protein_names_uniprotkb": "Oxysterol-binding protein-related protein 10; ORP-10; OSBP-related protein 10", "protein_names_refseq": "ORP-10; OSBP-related protein 10; oxysterol-binding protein-related protein 10 isoform 2; oxysterol-binding protein-related protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:114884); (R-HSA-1482801)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10.1101/2023.09.13.557529;10196188;10455175;10681567;11031251;11112443;11237011;11483621;11735225;11830583;12161451;12359733;12522102;16964243;17101204;17428193;18287005;18458083;18614531;18669648;18691976;18772128;19554302;19664995;20068231;20224571;20610895;20705608;21220512;21406692;22906437;23186163;23325789;23934110;24129315;24715725;25576301;25645385;26206935;26992070;27397612;27862975;28510447;2925608;29331515;29393594;29557506;30315122;30379171;30779550;31154438;31409903;31844290;31848261;32157095;32161166;32387766;32488085;32938616;33392160;33537174;33592498;33691108;33968037;33981976;34087483;34357683;34405274;34725712;34817532;35051231;35251023;35580925;36010968;36853333;7060561;8300559;9188469", "class_list": "", "function": "Analysis of variants in three genes encoding OSBP homologues in families with familial low high-density lipoprotein levels or familial combined hyperlipidemia revealed linkage of OSBPL10 single-nucleotide polymorphisms with high triglyceride trait. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Findings reveal that circOSBPL10 may serve as a new proliferation factor and prognostic marker in gastric cancer, [RefSeq, PubMed]; Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane. Its ability to bind phosphatidylserine, suggests that it specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P (Probable) (PubMed:23934110). Plays a role in negative regulation of lipid biosynthesis (PubMed:19554302). Interacts with OSBPL9 to function as lipid transfer proteins (PubMed:36853333). Together they form a heterodimer that localizes at the ER-trans-Golgi membrane contact sites, and exchanges phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine, PS) for phosphatidylinositol-4-phosphate (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate), PI(4)P) between the two organelles, a step that is critical for sphingomyelin synthesis in the Golgi complex (PubMed:36853333). Negatively regulates APOB secretion from hepatocytes (PubMed:19554302, PubMed:22906437). Binds cholesterol and acidic phospholipids (PubMed:22906437). Also binds 25-hydroxycholesterol (PubMed:17428193). Binds phosphatidylserine (PubMed:23934110)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; PI4P/PS countertransport by ORP10 at ER-endosome membrane contact sites regulates endosome fission., [RefSeq, PubMed]; This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4E212;Q9BTU5", "ec_number_list": "", "go_molecular_function": "GO:0005548 phospholipid transporter activity;GO:0015485 cholesterol binding;GO:0001786 phosphatidylserine binding;GO:0160270 phosphatidylserine-phosphatidylinositol-4-phosphate exchange activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006649 phospholipid transfer to membrane;GO:0055091 phospholipid homeostasis;GO:0097212 lysosomal membrane organization;GO:0036150 phosphatidylserine acyl-chain remodeling;GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9BXB5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXI2-1", "uniprot_id": "ORNT2_HUMAN", "mass": 32580.0, "length": 301, "protein_name": "Mitochondrial ornithine transporter 2", "gene_name": "SLC25A2", "organism": "Human", "refseq_name": "mitochondrial ornithine transporter 2", "refseq_ac": "NP_114153", "gene_names_uniprotkb": "SLC25A2; ORC2; ORNT2", "gene_names_refseq": "ORNT2; SLC25A2", "protein_names_uniprotkb": "Mitochondrial ornithine transporter 2; Solute carrier family 25 member 2", "protein_names_refseq": "mitochondrial ornithine transporter 2; ornithine transporter) member 2; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "ornithine translocase deficiency (Disease Ontology:DOID:0050720)", "pathway": " (hsa:83884); (R-HSA-70635)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10369256;10813810;11230163;11237854;12459178;12807890;12859189;12948741;15050968;16141327;17407445;17496144;17900240;18263583;18323623;19006241;19754428;22076378;22262851;2263616;23266187;23649895;24703693;26403849;26592762;29557506;32387766;32983136;33968037;35051231;40596516;518841;6249820;6372096;7649538;8898077;9256435;9686347;9852088", "class_list": "", "function": "Characterized mutations of the proposed substrate binding site in ORC1 and ORC2; demonstrated that the residue at position 179 in the 2 soforms is largely responsible for the difference in their substrate specificity;concluded that Arg-179 is a key residue in the opening of the carrier to the matrix side, [RefSeq, PubMed]; Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Expression, reconstitution, functional characterization, and tissue distribution of two human isoforms ORC1 and ORC2, [RefSeq, PubMed]; Here we identify a new intronless gene, ORNT2, located on chromosome 5., [RefSeq, PubMed]; Mitochondrial transporter of the positively charged amino acids ornithine, lysine and arginine, and the neutral amino acid citrulline (PubMed:12807890). In addition, transports the basic amino acids histidine, homoarginine, and asymmetric dimethylarginine (aDMA), but not symmetric DMA, and the D-forms of lysine, arginine, ornithine and histidine (PubMed:12807890, PubMed:26403849). Functions by both counter-exchange and uniport mechanisms (PubMed:26403849)., [UniProtKB, PubMed, PubMed]; This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q496C1;Q6XUI0;Q8NFZ2", "ec_number_list": "", "go_molecular_function": "GO:0000064 L-ornithine transmembrane transporter activity;GO:0015297 antiporter activity;GO:0015189 L-lysine transmembrane transporter activity;GO:0061459 L-arginine transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006591 ornithine metabolic process;GO:0000050 urea cycle;GO:1903401 L-lysine transmembrane transport;GO:1990575 mitochondrial L-ornithine transmembrane transport;GO:1903352 L-ornithine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9BXI2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZK8-1", "uniprot_id": "OCR1_HUMAN", "mass": 8369.0, "length": 76, "protein_name": "Ovarian cancer-related protein 1", "gene_name": "OCR1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "OCR1", "gene_names_refseq": "", "protein_names_uniprotkb": "Ovarian cancer-related 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": "Q9BZK8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZK3-1", "uniprot_id": "OR2B2_HUMAN", "mass": 40412.0, "length": 357, "protein_name": "Olfactory receptor 2B2", "gene_name": "OR2B2", "organism": "Human", "refseq_name": "olfactory receptor 2B2", "refseq_ac": "NP_149046", "gene_names_uniprotkb": "OR2B2; OR2B9", "gene_names_refseq": "OR2B2Q; OR2B2; OR2B9; OR6-1; dJ193B12.4; hs6M1-10", "protein_names_uniprotkb": "Olfactory receptor 2B2; Hs6M1-10; OR6-1; Olfactory receptor 2B9; Olfactory receptor 6-1", "protein_names_refseq": "olfactory receptor 2B2; olfactory receptor 2B9; olfactory receptor 6-1; olfactory receptor OR6-2; olfactory receptor, family 2, subfamily B, member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:81697); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "24800820;27515280;28832583;29242379;31974307;32066986;35051231", "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": 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": 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": "B2RNH2;Q9GZL2;Q9Y299", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9GZK3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZK4-1", "uniprot_id": "OR2H1_HUMAN", "mass": 35339.0, "length": 316, "protein_name": "Olfactory receptor 2H1", "gene_name": "OR2H1", "organism": "Human", "refseq_name": "olfactory receptor 2H1", "refseq_ac": "NP_001304943", "gene_names_uniprotkb": "OR2H1; OR2H6; OR2H8", "gene_names_refseq": "6M1-16; HS6M1-16; OLFR42A-9004-14; OLFR42A-9004.14/9026.2; OR2H1; OR2H6; OR2H8; OR6-2; dJ994E9.4", "protein_names_uniprotkb": "Olfactory receptor 2H1; Hs6M1-16; OLFR42A-9004.14/9026.2; OR6-2; Olfactory receptor 2H6; Olfactory receptor 2H8; Olfactory receptor 6-2; Olfactory receptor OR6-32", "protein_names_refseq": "olfactory receptor 2H1; olfactory receptor 2H6; olfactory receptor 2H8; olfactory receptor 6-2; olfactory receptor OR6-32; olfactory receptor, family 2, subfamily H, member 6; olfactory receptor, family 2, subfamily H, member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:26716); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "12637542;14983052;19851445;20466734;24715725;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; 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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0S7T4;O43629;O43661;O43662;Q5SUN6;Q9GZK9", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9GZK4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZM6-1", "uniprot_id": "OR8D2_HUMAN", "mass": 34857.0, "length": 311, "protein_name": "Olfactory receptor 8D2", "gene_name": "OR8D2", "organism": "Human", "refseq_name": "olfactory receptor 8D2", "refseq_ac": "NP_001002918", "gene_names_uniprotkb": "OR8D2", "gene_names_refseq": "JCG2; OR8D2", "protein_names_uniprotkb": "Olfactory receptor 8D2; Olfactory receptor OR11-303; Olfactory receptor-like protein JCG2", "protein_names_refseq": "olfactory receptor 8D2; olfactory receptor OR11-303; olfactory receptor-like protein JCG2", "tax_id": 9606, "disease": "", "pathway": " (hsa:283160); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11705801;14983052;23481700;24800820;27515280;29557506;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor (Potential). May be involved in taste perception., [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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]., [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": 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": "B9EH49;Q6IFR0", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9GZM6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZY6-1", "uniprot_id": "NTAL_HUMAN", "mass": 26550.0, "length": 243, "protein_name": "Linker for activation of T-cells family member 2", "gene_name": "LAT2", "organism": "Human", "refseq_name": "linker for activation of T-cells family member 2", "refseq_ac": "NP_054865", "gene_names_uniprotkb": "LAT2; HSPC046; LAB; NTAL; WBS15; WBSCR15; WBSCR5", "gene_names_refseq": "HSPC046; LAB; LAT2; NTAL; WBSCR15; WBSCR5; WSCR5", "protein_names_uniprotkb": "Linker for activation of T-cells family member 2; Linker for activation of B-cells; Membrane-associated adapter molecule; Non-T-cell activation linker; Williams-Beuren syndrome chromosomal region 15 protein; Williams-Beuren syndrome chromosomal region 5 protein", "protein_names_refseq": "Williams-Beuren syndrome chromosomal region 15 protein; Williams-Beuren syndrome chromosomal region 5 protein; linker for activation of B-cells; linker for activation of T cells, transmembrane adaptor 2; linker for activation of T-cells family member 2; membrane-associated adapter molecule; non-T-cell activation linker", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": " (hsa:7462); (R-HSA-2730905)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10068651;11003705;11124535;11237011;12486104;12514734;12660731;14722116;15010370;16160011;16456001;16497976;17697703;17993265;19367720;19369195;20058876;21653832;22424782;23481700;24366607;24715725;25502872;25505266;25576301;25880248;25892735;26154972;26375851;26992070;27452731;27920218;28218747;28228285;2833705;28467828;28832583;28860189;28904123;29242379;29314611;29393594;29437277;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30524438;30779550;31154438;31217245;31530632;31844290;31937595;32265295;32350084;32357974;32387766;32502341;32587277;32897882;32983136;33141586;33298915;33392160;33633747;33691108;33717175;33912179;33936100;33968037;34211107;34357683;34405274;34433824;34509645;34932366;35051231;35154160;35561310;36241641;36284347;36581221;36902005;37938771", "class_list": "", "function": "Data show that NTAL (non-T cell activation linker) appears to be a structural and possibly also functional homologue of LAT (linker for activation of T cells)in non-T cells [non-T cell activation linker], [RefSeq, PubMed]; Expression of Non-T Cell Activation Linker (NTAL) in Jurkat Cells Negatively Regulates TCR Signaling: Potential Role in Rheumatoid Arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. May also be involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and FCGR1 (high affinity immunoglobulin gamma Fc receptor I)-mediated signaling in myeloid cells. Couples activation of these receptors and their associated kinases with distal intracellular events through the recruitment of GRB2., [UniProtKB, PubMed, PubMed, PubMed]; NTAL is associated with treatment outcome, cell proliferation and differentiation in acute promyelocytic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [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": 15, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NFK6;A8K209;A8K4F1;D3DXF9;Q9BXX8;Q9NZY9", "ec_number_list": "", "go_molecular_function": "GO:0042169 SH2 domain binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0070062 extracellular exosome", "go_biological_process": "GO:0019722 calcium-mediated signaling;GO:0035556 intracellular signal transduction;GO:0042113 B cell activation;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9GZY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H093-1", "uniprot_id": "NUAK2_HUMAN", "mass": 69612.0, "length": 628, "protein_name": "NUAK family SNF1-like kinase 2", "gene_name": "NUAK2", "organism": "Human", "refseq_name": "NUAK family SNF1-like kinase 2", "refseq_ac": "NP_112214", "gene_names_uniprotkb": "NUAK2; OMPHK2; SNARK", "gene_names_refseq": "ANPH2; NUAK2; SNARK", "protein_names_uniprotkb": "NUAK family SNF1-like kinase 2; 2.7.11.1; Omphalocele kinase 2; SNARK; SNF1/AMP kinase-related kinase", "protein_names_refseq": "NUAK family SNF1-like kinase 2; NUAK family, SNF1-like kinase, 2; SNF1/AMP activated protein kinase; SNF1/AMP kinase-related kinase; omphalocele kinase 2", "tax_id": 9606, "disease": "anencephaly (Disease Ontology:DOID:0060668); anencephaly 2 (MONDO:MONDO:0030338)", "pathway": " (hsa:81788)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11230166;11284715;14575707;14976552;15345718;17344846;19369195;19615748;19927127;22564745;24715725;25576301;26154972;27846572;28832583;28834231;29242379;29393594;29493099;29557506;29632046;29632711;30379171;31844290;32157095;32845958;32938616;32983136;33141586;34171305;35051231;35343079;35580925;36215666;36241641;36284347;37357410;37421942;37429790", "class_list": "", "function": "Circ_0000033 up-regulates NUAK2 by sequestering miR-378a-3p to promote breast tumorigenesis., [RefSeq, PubMed]; Enhanced SARS-CoV-2 entry via UPR-dependent AMPK-related kinase NUAK2., [RefSeq, PubMed]; GPR65 promotes intestinal mucosal Th1 and Th17 cell differentiation and gut inflammation through downregulating NUAK2., [RefSeq, PubMed]; OTUD7B deubiquitinates and stabilizes YAP1 to upregulate NUAK2 expression, thus accelerating gastric cancer procession., [RefSeq, PubMed]; SNARK is an NF-kappaB-regulated anti-apoptotic gene that contributes to the tumor-promoting activity of CD95 in apoptosis-resistant tumor cells, [RefSeq, PubMed]; Stress-activated kinase involved in tolerance to glucose starvation. Induces cell-cell detachment by increasing F-actin conversion to G-actin. Expression is induced by CD95 or TNF, via NF-kappa-B. Protects cells from CD95-mediated apoptosis and is required for the increased motility and invasiveness of CD95-activated tumor cells. Phosphorylates LATS1 and LATS2. Plays a key role in neural tube closure during embryonic development through LATS2 phosphorylation and regulation of the nuclear localization of YAP1 a critical downstream regulatory target in the Hippo signaling pathway (PubMed:32845958)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This study describes the cloning and characterization of the rat SNARK homolog, mapping of the human SNARK gene to 1q32, and a potential functional role as mediator of the cellular response to metabolic stress., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;2.7.11.-;2.7.11.4;2.7.11.10;2.7.11.24;2.7.11.25;2.7.10.2;2.7.12.1;2.7.11.39;3.1.26.-;2.7.11.22;2.7.11.13;2.7.2.3;2.7.11.23;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-;2.7.1.150", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:0006468 protein phosphorylation;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9H093-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1E3-1", "uniprot_id": "NUCKS_HUMAN", "mass": 27296.0, "length": 243, "protein_name": "Nuclear ubiquitous casein and cyclin-dependent kinase substrate 1", "gene_name": "NUCKS1", "organism": "Human", "refseq_name": "nuclear ubiquitous casein and cyclin-dependent kinase substrate 1", "refseq_ac": "NP_073568", "gene_names_uniprotkb": "NUCKS1; JC7; NUCKS", "gene_names_refseq": "JC7; NUCKS1; NUCKS", "protein_names_uniprotkb": "Nuclear ubiquitous casein and cyclin-dependent kinase substrate 1; P1", "protein_names_refseq": "P1; nuclear ubiquitous casein and cyclin-dependent kinase substrate 1; nuclear ubiquitous casein kinase and cyclin-dependent kinase substrate; potential LAG1 interactor", "tax_id": 9606, "disease": "", "pathway": " (hsa:64710)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "11298763;15302935;15345747;15381070;16964243;17081983;17287340;17487921;17525332;17693683;17924679;18077418;18212344;18220336;18318008;18452278;18491316;18491381;18669648;18691976;18707149;18767875;19367720;19413330;19415658;19562805;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20230923;21406692;23186163;24275569;24714562;24715725;25576301;25645385;26154972;26323318;26728094;26992070;27600516;27846572;27862975;28832583;28834231;29393594;29493099;29508533;29557506;29632046;29632711;30429286;30524438;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32502341;32897882;32983136;33043033;33592498;34850570;35051231;35069784;35251023;35561310;35580925;36284347;37217939;37226932;37582772;37938771;38636892;38665916", "class_list": "", "function": "Chromatin-associated protein involved in DNA repair by promoting homologous recombination (HR) (PubMed:26323318). Binds double-stranded DNA (dsDNA) and secondary DNA structures, such as D-loop structures, but with less affinity than RAD51AP1 (PubMed:26323318)., [UniProtKB, PubMed]; CircRNA circ_0008037 facilitates tumor growth and the Warburg effect via upregulating NUCKS1 by binding to miR-433-3p in non-small cell lung cancer., [RefSeq, PubMed]; MiR-641 Inhibited Cell Proliferation and Induced Apoptosis by Targeting NUCKS1/PI3K/AKT Signaling Pathway in Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NUCB2 inhibition antagonizes osteosarcoma progression and promotes anti-tumor immunity through inactivating NUCKS1/CXCL8 axis., [RefSeq, PubMed]; NUCKS1 promotes the progression of colorectal cancer via activating PI3K/AKT/mTOR signaling pathway., [RefSeq, PubMed]; Roles of increased NUCKS1 expression in endometriosis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [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": 37, "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": "Q54AC0;Q5PXE7;Q9H1D6;Q9H723", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0003690 double-stranded DNA binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0035822 gene conversion;GO:0060382 regulation of DNA strand elongation;GO:0044829 host-mediated activation of viral genome replication;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001678 intracellular glucose homeostasis", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9H1E3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1P3-1", "uniprot_id": "OSBL2_HUMAN", "mass": 55201.0, "length": 480, "protein_name": "Oxysterol-binding protein-related protein 2", "gene_name": "OSBPL2", "organism": "Human", "refseq_name": "oxysterol-binding protein-related protein 2 isoform 1", "refseq_ac": "NP_055650", "gene_names_uniprotkb": "OSBPL2; KIAA0772; ORP2", "gene_names_refseq": "DFNA67; DIDA; DNFA67; ORP-2; ORP2; OSBPL2", "protein_names_uniprotkb": "Oxysterol-binding protein-related protein 2; ORP-2; OSBP-related protein 2", "protein_names_refseq": "OSBP-related protein 2; oxysterol-binding protein-related protein 2 isoform 1; oxysterol-binding protein-related protein 2", "tax_id": 9606, "disease": "dyschromatosis, ichthyosis, deafness, and atopic disease (Disease Ontology:DOID:0070723); autosomal dominant nonsyndromic deafness 67 (Disease Ontology:DOID:0110588); status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:9885); (R-HSA-192105)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "11237011;11279184;11483621;11735225;11802775;11861666;17428193;19224871;21872626;23325789;23428468;23481700;23830809;24209621;24275569;24714562;24742681;25077649;25418920;25576301;25759012;25880248;26154972;26715851;26992070;27543614;27862975;27920218;28228285;28832583;28834231;29242379;29437277;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30581148;30779550;30894143;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32897882;32914503;32938616;32983136;33392160;33592498;33912179;33968037;33981976;34124795;34171305;34185709;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;38701954;9852097", "class_list": "", "function": "Intracellular transport protein that binds sterols and phospholipids and mediates lipid transport between intracellular compartments (PubMed:30581148, PubMed:32914503). Increases plasma membrane cholesterol levels and decreases phosphatidylinositol-4,5-bisphosphate levels in the cell membrane (PubMed:30581148, PubMed:32914503, PubMed:34124795). Exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (PubMed:11279184). Binds cholesterol, dehydroergosterol, 22(R)-hydroxycholesterol and 25-hydroxycholesterol (in vitro) (PubMed:17428193, PubMed:19224871, PubMed:30581148). In conjunction with PLCB3, it may contribute to the control of keratinocyte proliferation and differentiation, probably through the regulation of the ERK pathway and the cell cycle (PubMed:38701954). Involved in angiogenic signaling pathways such as VEGFR2 in endothelial cells (PubMed:32914503). Controls LDL-cholesterol plasma membrane delivery, focal adhesion kinase (FAK) activation and PI(4,5)P2 generation, enhancing cell adhesion (PubMed:34124795)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ORP2 as a novel regulator of cellular sterol homeostasis and intracellular membrane trafficking., [RefSeq, PubMed]; ORP2 couples LDL-cholesterol transport to FAK activation by endosomal cholesterol/PI(4,5)P2 exchange., [RefSeq, PubMed]; OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome., [RefSeq, PubMed]; This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 12, "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": "A8K736;Q6IBT0;Q9BZB1;Q9Y4B8", "ec_number_list": "", "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0015485 cholesterol binding;GO:0008526 phosphatidylinositol transfer activity;GO:0120015 sterol transfer activity;GO:0120020 cholesterol transfer activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098831 presynaptic active zone cytoplasmic component;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0007009 plasma membrane organization;GO:0051289 protein homotetramerization;GO:0015914 phospholipid transport;GO:0032367 intracellular cholesterol transport", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9H1P3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H244-1", "uniprot_id": "P2Y12_HUMAN", "mass": 39439.0, "length": 342, "protein_name": "P2Y purinoceptor 12", "gene_name": "P2RY12", "organism": "Human", "refseq_name": "P2Y purinoceptor 12", "refseq_ac": "NP_073625", "gene_names_uniprotkb": "P2RY12; HORK3", "gene_names_refseq": "ADPG-R; BDPLT8; HORK3; P2RY12; P2T(AC); P2Y(12)R; P2Y(AC); P2Y(ADP); P2Y(cyc); P2Y12; SP1999", "protein_names_uniprotkb": "P2Y purinoceptor 12; ADP-glucose receptor; ADPG-R; P2T(AC); P2Y(AC); P2Y(ADP); P2Y(cyc); P2Y12 platelet ADP receptor; P2Y12; SP1999", "protein_names_refseq": "ADP-glucose receptor; G-protein coupled receptor SP1999; Gi-coupled ADP receptor HORK3; P2Y purinoceptor 12; P2Y12 platelet ADP receptor; purinergic receptor P2RY12; purinergic receptor P2Y, G-protein coupled, 12; putative G-protein coupled receptor", "tax_id": 9606, "disease": "peripheral artery disease (Disease Ontology:DOID:0050830); platelet-type bleeding disorder 8 (Disease Ontology:DOID:0060692); thrombosis (Disease Ontology:DOID:0060903); asthma (Disease Ontology:DOID:2841); cerebrovascular disease (Disease Ontology:DOID:6713); abdominal aortic aneurysm (Disease Ontology:DOID:7693); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:64805); (R-HSA-392170); (R-HSA-417957); (R-HSA-418594)", "pathway_count": 4, "publication_count": 65, "publication_id_list": "10753868;11004484;11007482;11104774;11156592;11196645;11502873;11546776;12044878;12120503;12386137;12458155;12560222;12578987;14573771;15199474;15951850;16268477;16634148;16774927;16923326;16990797;17166850;18297070;18434541;18466763;18577758;19339661;19552634;23890048;24393016;24414167;24670650;24784220;2534964;25428217;26194851;26758983;26992070;2748346;27694321;28089137;2834384;28523947;29557506;3304967;35051231;36681816;36743859;37217939;37525937;37589138;38456510;7937899;8015379;8159738;8406495;8537336;8554519;8666290;8670200;8720746;9223435;9364473;9405388", "class_list": "", "function": "Association between P2Y1 and P2Y12 polymorphisms and acute myocardial infarction and ADP-induced platelet aggregation. Publication Status: Online-Only, [RefSeq, PubMed]; Cell Surface Platelet Tissue Factor Expression: Regulation by P2Y12 and Link to Residual Platelet Reactivity., [RefSeq, PubMed]; Correlation P2Y12 Genetic Polymorphism As Risk Factor of Clopidogrel Resistance in Indonesian Stroke Patients. Publication Status: Online-Only, [RefSeq, PubMed]; High-mobility group box 1 increases platelet surface P2Y12 and platelet activation in sickle cell disease. Publication Status: Online-Only, [RefSeq, PubMed]; Platelet P2Y12 signalling pathway in the dysregulated immune response during sepsis. Review article, [RefSeq, PubMed]; Receptor for ADP and ATP coupled to G proteins that inhibit the adenylyl cyclase second messenger system. Not activated by UDP and UTP. Required for normal platelet aggregation and blood coagulation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DNJ5;Q546J7", "ec_number_list": "", "go_molecular_function": "GO:0001621 G protein-coupled ADP receptor activity;GO:0001609 G protein-coupled adenosine receptor activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0045028 G protein-coupled purinergic nucleotide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0031253 cell projection membrane;GO:0044298 cell body membrane", "go_biological_process": "GO:1904141 positive regulation of microglial cell migration;GO:1904139 regulation of microglial cell migration;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9H244-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NTK5-1", "uniprot_id": "OLA1_HUMAN", "mass": 44744.0, "length": 396, "protein_name": "Obg-like ATPase 1", "gene_name": "OLA1", "organism": "Human", "refseq_name": "obg-like ATPase 1 isoform 2", "refseq_ac": "NP_001011708", "gene_names_uniprotkb": "OLA1; GTPBP9; PRO2455; PTD004", "gene_names_refseq": "DOC45; GBP45; GTBP9; GTPBP9; OLA1; PTD004", "protein_names_uniprotkb": "Obg-like ATPase 1; DNA damage-regulated overexpressed in cancer 45; DOC45; GTP-binding protein 9", "protein_names_refseq": "DNA damage-regulated overexpressed in cancer 45 protein; GTP-binding protein 9 (putative); GTP-binding protein PTD004; homologous yeast-44.2 protein; obg-like ATPase 1 isoform 2; obg-like ATPase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:29789); (R-HSA-114608)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "11230166;11237011;1435334;14630798;15297306;16959974;17430889;18536999;19608861;19706404;19882753;20053727;23301498;23640497;24289923;24715725;25418920;25576301;25892735;26992070;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29557506;29769354;30315122;30779550;30833945;31020640;31154438;31530632;31844290;31848261;32157095;32265295;32350084;32387766;32502341;33141586;33298915;33592498;33912179;33968037;33981976;34019948;34171305;34357683;34433824;34725712;34743750;34932366;35051231;35138101;35251023;35440019;35561310;35580925;36284347;36481055;37306352;38665916;40914422;6457647;8467233", "class_list": "", "function": "Clinicopathological significance of Obg-like ATPase 1 and its association with Snail in gastric cancer., [RefSeq, PubMed]; DOC45 is a novel ATPase that is linked to cellular stress response and tumorigenesis, and may also serve as a valuable tumor marker., [RefSeq, PubMed]; Hydrolyzes ATP, and can also hydrolyze GTP with lower efficiency. Has lower affinity for GTP., [UniProtKB, HAMAP, UniProtKB]; Knockdown of OLA1 inhibits breast cancer cell migration and invasion through a mechanism that involves the modulation of intracellular ROS levels, [RefSeq, PubMed]; N6-methyladenosine reader IMP2 stabilizes the ZFAS1/OLA1 axis and activates the Warburg effect: implication in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; OLA1 Phosphorylation Governs the Mitochondrial Bioenergetic Function of Pulmonary Vascular Cells., [RefSeq, PubMed]; OLA1 plays an important role in centrosome regulation together with BRCA1., [RefSeq, PubMed]; OLA1 promotes colorectal cancer tumorigenesis by activation of HIF1alpha/CA9 axis. Publication Status: Online-Only, [RefSeq, PubMed]; OLA1 suppresses the antioxidant response through nontranscriptional mechanisms., [RefSeq, PubMed]; Results indicate that Gbp45/OLA1 plays important roles in cell proliferation and death related to mitochondrial function., [RefSeq, PubMed]; This gene encodes a member of the GTPase protein family. The encoded protein interacts with breast cancer-associated gene 1 (BRCA1) and BRCA1-associated RING domain protein (BARD1), and is involved in centrosome regulation. Overexpression of this gene has been observed in multiple types of cancer and may be associated with poor survival. Pseudogenes of this gene have been defined on chromosomes 17 and 22. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "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": "D7EHM2;Q5BJD7;Q8NCI8;Q96CU1;Q96SV2;Q9P1D3;Q9UNY9;Q9Y6G4", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0046034 ATP metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9NTK5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZ20-1", "uniprot_id": "PA2G3_HUMAN", "mass": 57167.0, "length": 509, "protein_name": "Group 3 secretory phospholipase A2", "gene_name": "PLA2G3", "organism": "Human", "refseq_name": "group 3 secretory phospholipase A2 precursor", "refseq_ac": "NP_056530", "gene_names_uniprotkb": "PLA2G3", "gene_names_refseq": "GIII-SPLA2; PLA2G3; SPLA2III; sPLA2-III", "protein_names_uniprotkb": "Group 3 secretory phospholipase A2; 3.1.1.4; GIII sPLA2; Group III secretory phospholipase A2; Phosphatidylcholine 2-acylhydrolase 3; sPLA2-III", "protein_names_refseq": "group 3 secretory phospholipase A2 precursor; group 3 secretory phospholipase A2; group III secreted phospholipase A2; phosphatidylcholine 2-acylhydrolase 3; phosphatidylcholine 2-acylhydrolase GIII", "tax_id": 9606, "disease": "", "pathway": " (hsa:50487); (R-HSA-1482788); (R-HSA-1482839); (R-HSA-1482925)", "pathway_count": 4, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;10085124;10092647;10336645;10358058;10455175;10681567;10713052;11031251;11112443;11830583;12127976;12150957;12161451;12359733;12522102;14709560;15485873;15695510;15863501;15944408;1618844;16243729;16617059;16704971;16818490;16864775;17182612;17868035;18195019;18287005;18458083;18614531;18669648;18772128;18781350;18801741;19019078;1904318;19351971;19501189;20025994;20393563;20705608;21515882;22605381;22825852;23624557;25964585;26463208;26503625;27146384;28947740;2925608;2925633;34082797;35051231;7060561;8083230;8300559;9188469;9417066;9705332", "class_list": "", "function": "Cellular arachidonate (AA) release and prostaglandin (PG) production are regulated by novel classes of secretory phospholipase A(2)s (sPLA(2)s), groups III and XII, [RefSeq, PubMed]; Group III phospholipase A2 downregulation attenuated survival and metastasis in ovarian cancer and promotes chemo-sensitization. Publication Status: Online-Only, [RefSeq, PubMed]; Lys 43 and Asp 46 in rhUG are critical residues for the sPLA2-inhibitory activity of UG, [RefSeq, PubMed]; Potential contribution of sPLA2-III to neuronal differentiation and its function under certain conditions, [RefSeq, PubMed]; SPLA(2)-III may have a role in cancer development by stimulating tumor cell growth and angiogenesis, [RefSeq, PubMed]; SPLA2GIII expression may be used as a risk factor for lymph node metastasis and a prognostic marker in colorectal cancer. In addition, sPLA2GIII and sPLA2GX may play opposing roles in colorectal carcinogenesis, [RefSeq, PubMed]; Secretory calcium-dependent phospholipase A2 that primarily targets extracellular phospholipids. Hydrolyzes the ester bond of the fatty acyl group attached at sn-2 position of phospholipids without apparent head group selectivity (PubMed:12522102, PubMed:15863501, PubMed:18801741, PubMed:28947740). Contributes to phospholipid remodeling of low-density lipoprotein (LDL) and high-density lipoprotein (HDL) particles. Hydrolyzes LDL phospholipids releasing unsaturated fatty acids that regulate macrophage differentiation toward foam cells (PubMed:18801741). May act in an autocrine and paracrine manner (PubMed:23624557). Secreted by immature mast cells, acts on nearby fibroblasts upstream to PTDGS to synthesize prostaglandin D2 (PGD2), which in turn promotes mast cell maturation and degranulation via PTGDR (PubMed:23624557). Secreted by epididymal epithelium, acts on immature sperm cells within the duct, modulating the degree of unsaturation of the fatty acyl components of phosphatidylcholines required for acrosome assembly and sperm cell motility. Facilitates the replacement of fatty acyl chains in phosphatidylcholines in sperm membranes from omega-6 and omega-9 to omega-3 polyunsaturated fatty acids (PUFAs). Coupled to lipoxygenase pathway, may process omega-6 PUFAs to generate oxygenated lipid mediators in the male reproductive tract (By similarity). At pericentrosomal preciliary compartment, negatively regulates ciliogenesis likely by regulating endocytotic recycling of ciliary membrane protein (PubMed:20393563). Coupled to cyclooxygenase pathway provides arachidonate to generate prostaglandin E2 (PGE2), a potent immunomodulatory lipid in inflammation and tumorigenesis (PubMed:12522102, PubMed:15863501). At colonic epithelial barrier, preferentially hydrolyzes phospholipids having arachidonate and docosahexaenoate at sn-2 position, contributing to the generation of oxygenated metabolites involved in colonic stem cell homeostasis (PubMed:28947740). Releases C16:0 and C18:0 lysophosphatidylcholine subclasses from neuron plasma membranes and promotes neurite outgrowth and neuron survival (PubMed:17868035)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Several hits were discovered, and data have been uploaded to PubChem. This study describes the first high-throughput optical screening assay for secreted phospholipase A2 inhibitors based on a phospholipid vesicle substrate, [RefSeq, PubMed]; This gene encodes a protein that belongs to the secreted phospholipase A2 family, whose members include the bee venom enzyme. The encoded enzyme functions in lipid metabolism and catalyzes the calcium-dependent hydrolysis of the sn-2 acyl bond of phospholipids to release arachidonic acid and lysophospholipids. This enzyme acts as a negative regulator of ciliogenesis, and may play a role in cancer development by stimulating tumor cell growth and angiogenesis. This gene is associated with oxidative stress, and polymorphisms in this gene are linked to risk for Alzheimer's disease. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "O95768", "ec_number_list": "3.1.1.4;3.1.2.2;3.1.1.5;2.3.1.43;3.1.1.47;1.11.1.27;2.3.1.23;3.1.1.3;3.1.1.32;2.3.1.-;3.1.1.-;2.3.1.51", "go_molecular_function": "GO:0046872 metal ion binding;GO:0004623 phospholipase A2 activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0055037 recycling endosome;GO:0005814 centriole", "go_biological_process": "GO:0046473 phosphatidic acid metabolic process;GO:0010629 negative regulation of gene expression;GO:0010976 positive regulation of neuron projection development;GO:0050482 arachidonate secretion;GO:0043524 negative regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9NZ20-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UH64-1", "uniprot_id": "NSGX_HUMAN", "mass": 8851.0, "length": 79, "protein_name": "Putative uncharacterized protein CDKN2A-AS1", "gene_name": "CDKN2A-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CDKN2A-AS1; C9orf53; CDKN2A-DT", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein CDKN2A-AS1; CDKN2A antisense RNA 1; CDKN2A antisense gene protein 1; Protein CDKN2A-DT; Susceptibility protein NSG-x", "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": "Q5VVJ4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9UH64-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9ULD0-1", "uniprot_id": "OGDHL_HUMAN", "mass": 114481.0, "length": 1010, "protein_name": "2-oxoglutarate dehydrogenase-like, mitochondrial", "gene_name": "OGDHL", "organism": "Human", "refseq_name": "2-oxoglutarate dehydrogenase-like, mitochondrial isoform b", "refseq_ac": "NP_001137468", "gene_names_uniprotkb": "OGDHL; KIAA1290", "gene_names_refseq": "OGDHL; YOBELN", "protein_names_uniprotkb": "2-oxoglutarate dehydrogenase-like, mitochondrial; 1.2.4.2; 2-oxoglutarate dehydrogenase complex component E1-like; Alpha-ketoglutarate dehydrogenase-like; OGDC-E1-like", "protein_names_refseq": "2-oxoglutarate dehydrogenase complex component E1-like; 2-oxoglutarate dehydrogenase-like, mitochondrial isoform b; 2-oxoglutarate dehydrogenase-like, mitochondrial; OGDC-E1-like; alpha-ketoglutarate dehydrogenase-like; oxoglutarate dehydrogenase like", "tax_id": 9606, "disease": "Yoon-Bellen neurodevelopmental syndrome (Disease Ontology:DOID:0070468); oxoglutarate dehydrogenase deficiency (Disease Ontology:DOID:0081326); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:55753)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "19724895;23152800;23481700;26154972;27846572;28017472;28904123;29557506;30410026;30904169;31175094;32357974;32938616;32983136;33141586;33298915;33405394;33592498;33912179;33936100;33968037;34171305;34357683;34800363;35051231;35083852;35580925;36000493;38031187", "class_list": "", "function": "2-oxoglutarate dehydrogenase (E1-like) component of the 2-oxoglutarate dehydrogenase multienzyme complex (OGDHC) which mediates the decarboxylation of alpha-ketoglutarate in the tricarboxylic acid cycle. The OGDHC complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) while reducing NAD(+) to NADH (By similarity). The OGDHC complex is mainly active in the mitochondrion (By similarity). Involved in the inhibition of cell proliferation and in apoptosis (PubMed:23152800, PubMed:31175094)., [UniProtKB, UniProtKB, PubMed, PubMed]; Aberrant hypermethylation of OGDHL gene promoter in sporadic colorectal cancer., [RefSeq, PubMed]; Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia., [RefSeq, PubMed]; Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Publication Status: Online-Only, [RefSeq, PubMed]; Inactivation of OGDHL can contribute to cervical tumorigenesis via activation of the AKT signaling pathway and thus support it as an important anti-proliferative gene in cervical cancer., [RefSeq, PubMed]; OGDHL closely associates with tumor microenvironment and can serve as a prognostic biomarker for papillary thyroid cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Silencing of OGDHL promotes liver cancer metastasis by enhancing hypoxia inducible factor 1 alpha protein stability., [RefSeq, PubMed]; The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the AKT signaling cascade and can suppress the growth of cervical cancer cells. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 21, "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": "A8K2G1;B4DKG2;B4E193;Q8TAN9;Q9NVA0", "ec_number_list": "1.2.4.2", "go_molecular_function": "GO:0046872 metal ion binding;GO:0030976 thiamine pyrophosphate binding;GO:0004591 oxoglutarate dehydrogenase (succinyl-transferring) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045252 oxoglutarate dehydrogenase complex", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006103 2-oxoglutarate metabolic process;GO:0006096 glycolytic process", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9ULD0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNZ2-1", "uniprot_id": "NSF1C_HUMAN", "mass": 40573.0, "length": 370, "protein_name": "NSFL1 cofactor p47", "gene_name": "NSFL1C", "organism": "Human", "refseq_name": "NSFL1 cofactor p47 isoform d", "refseq_ac": "NP_001193665", "gene_names_uniprotkb": "NSFL1C; UBXN2C", "gene_names_refseq": "NSFL1C; P47; UBX1; UBXD10; UBXN2C; dJ776F14.1", "protein_names_uniprotkb": "NSFL1 cofactor p47; UBX domain-containing protein 2C; p97 cofactor p47", "protein_names_refseq": "NSFL1 (p97) cofactor (p47); NSFL1 cofactor p47 isoform d; SHP1 homolog; UBX domain-containing protein 2C; p97 cofactor p47", "tax_id": 9606, "disease": "", "pathway": " (hsa:55968); (R-HSA-9013407)", "pathway_count": 2, "publication_count": 117, "publication_id_list": "10931946;11237011;11368848;11809807;12810701;15498563;17028588;17064668;17081983;17145369;17287340;17322306;17389395;17924679;18088087;18212344;18452278;18669648;18707149;18767875;19367720;19413330;19415658;19651622;19664994;19690332;20058876;20068231;20166139;20184954;20230923;20851766;21406692;21993680;23186163;23481700;23649807;24275569;24714562;24715725;25645385;25810538;25880248;26154972;26375851;26768311;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29510700;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30779550;30783609;30833945;31154438;31217245;31844290;31848261;31871319;31937595;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33555040;33592498;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;35051231;35251023;35318648;35475466;35580925;36010968;36241641;36284347;37938771;39302247;40914422", "class_list": "", "function": "N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]., [RefSeq]; P97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly., [RefSeq, PubMed]; Reduces the ATPase activity of VCP (By similarity). Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis (By similarity). May play a role in VCP-mediated formation of transitional endoplasmic reticulum (tER) (By similarity). Inhibits the activity of CTSL (in vitro) (PubMed:15498563). Together with UBXN2B/p37, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase (PubMed:23649807). Also, regulates spindle orientation during mitosis (PubMed:23649807)., [UniProtKB, PubMed, PubMed, UniProtKB]; Translocator protein (18 kDa) regulates the microglial phenotype in Parkinson's disease through P47., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A2A2L1;B2RD74;Q5JXA4;Q5JXA5;Q7Z533;Q9H102;Q9NVL9;Q9UI06", "ec_number_list": "", "go_molecular_function": "GO:0008289 lipid binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:1990730 VCP-NSFL1C complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0031468 nuclear membrane reassembly;GO:0000045 autophagosome assembly;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0061025 membrane fusion;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q9UNZ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3N9-1", "uniprot_id": "OR2W1_HUMAN", "mass": 36101.0, "length": 320, "protein_name": "Olfactory receptor 2W1", "gene_name": "OR2W1", "organism": "Human", "refseq_name": "olfactory receptor 2W1", "refseq_ac": "NP_112165", "gene_names_uniprotkb": "OR2W1", "gene_names_refseq": "OR2W1; hs6M1-15", "protein_names_uniprotkb": "Olfactory receptor 2W1; Hs6M1-15; Olfactory receptor OR6-13", "protein_names_refseq": "olfactory receptor 2W1; olfactory receptor OR6-13", "tax_id": 9606, "disease": "", "pathway": " (hsa:26692); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;19851445;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;28832583;29235485;29351928;31040214;31974307;32066986;32938616;34087483;36215666", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; 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": 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": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B0S7Y5;Q5JNZ1;Q6IEU0;Q96R17;Q9GZL0;Q9GZL1", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9Y3N9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43869-1", "uniprot_id": "OR2T1_HUMAN", "mass": 41996.0, "length": 369, "protein_name": "Olfactory receptor 2T1", "gene_name": "OR2T1", "organism": "Human", "refseq_name": "olfactory receptor 2T1", "refseq_ac": "NP_112166", "gene_names_uniprotkb": "OR2T1", "gene_names_refseq": "OR1-25; OR2T1", "protein_names_uniprotkb": "Olfactory receptor 2T1; OR1-25; Olfactory receptor 1-25; Olfactory receptor OR1-61", "protein_names_refseq": "olfactory receptor 1-25; olfactory receptor 2T1; olfactory receptor OR1-61", "tax_id": 9606, "disease": "", "pathway": " (hsa:26696); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 28, "publication_id_list": "10460249;11237011;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;30418433;31040214;31974307;32066986;32157095;32387766;35051231;35251023;9500546", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, 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": 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": "Q6IEZ9", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O43869-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A3KFT3-1", "uniprot_id": "OR2M5_HUMAN", "mass": 35112.0, "length": 312, "protein_name": "Olfactory receptor 2M5", "gene_name": "OR2M5", "organism": "Human", "refseq_name": "olfactory receptor 2M5", "refseq_ac": "NP_001004690", "gene_names_uniprotkb": "OR2M5; OR2M5P", "gene_names_refseq": "OR2M5P; OR2M5", "protein_names_uniprotkb": "Olfactory receptor 2M5", "protein_names_refseq": "olfactory receptor 2M5; olfactory receptor, family 2, subfamily M, member 5 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:127059); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "21248752;24800820;27515280;31974307;32066986", "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": 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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A3KFT3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NMS3-1", "uniprot_id": "OR5K4_HUMAN", "mass": 36711.0, "length": 321, "protein_name": "Olfactory receptor 5K4", "gene_name": "OR5K4", "organism": "Human", "refseq_name": "olfactory receptor 5K4", "refseq_ac": "NP_001005517", "gene_names_uniprotkb": "OR5K4", "gene_names_refseq": "OR5K4", "protein_names_uniprotkb": "Olfactory receptor 5K4", "protein_names_refseq": "olfactory receptor 5K4", "tax_id": 9606, "disease": "", "pathway": " (hsa:403278); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "24800820;27515280;27726376;30418433;31974307;32066986;34087483;35051231", "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": 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": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "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:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NMS3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MZH6-1", "uniprot_id": "OOSP1_HUMAN", "mass": 14433.0, "length": 123, "protein_name": "Putative oocyte-secreted protein 1 homolog", "gene_name": "OOSP1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "OOSP1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative oocyte-secreted protein 1 homolog", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:255649)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "May be involved in cell differentiation., [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:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8MZH6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61366-1", "uniprot_id": "OSTN_HUMAN", "mass": 14722.0, "length": 133, "protein_name": "Osteocrin", "gene_name": "OSTN", "organism": "Human", "refseq_name": "osteocrin precursor", "refseq_ac": "NP_937827", "gene_names_uniprotkb": "OSTN", "gene_names_refseq": "MUSCLIN; OSTN", "protein_names_uniprotkb": "Osteocrin; Musclin", "protein_names_refseq": "osteocrin precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:344901)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10.1038/emboj.2013.79;11237011;14523025;15044443;15923362;17950246;23584533;27830782;34725346;35013221;35428952;37023616;37137178", "class_list": "", "function": "Control of osteocyte dendrite formation by Sp7 and its target gene osteocrin. Publication Status: Online-Only, [RefSeq, PubMed]; Foxo1 downregulates musclin mRNA expression both in vitro and in vivo, which should explain insulin-mediated upregulation of this gene in muscle cells., [RefSeq, PubMed]; Hormone that acts as a regulator of dendritic growth in the developing cerebral cortex in response to sensory experience (PubMed:27830782). Induced in the brain following membrane depolarization and inhibits dendritic branching in neurons of the developing cortex (PubMed:27830782). Probably acts by binding to natriuretic peptide receptor NPR3/NPR-C, thereby preventing binding between NPR3/NPR-C and natriuretic peptides, leading to increase cGMP production (By similarity)., [UniProtKB, UniProtKB, PubMed]; Musclin attenuates lipid deposition in hepatocytes through SIRT7/autophagy-mediated suppression of ER stress., [RefSeq, PubMed]; Nestin and osteocrin mRNA increases in human semitendinosus myotendinous junction 7 days after a single bout of eccentric exercise., [RefSeq, PubMed]; Osteocrin represents a novel, unique vitamin D-regulated bone-specific protein that appears to act as a soluble osteoblast regulator, [RefSeq, PubMed]; Skeletal muscle derived Musclin protects the heart during pathological overload. Publication Status: Online-Only, [RefSeq, PubMed]; The correlation of serum musclin with diabetic nephropathy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1A4U3", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005179 hormone activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0030154 cell differentiation;GO:0009755 hormone-mediated signaling pathway;GO:1903860 negative regulation of dendrite extension;GO:0098868 bone growth", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "P61366-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O14753-1", "uniprot_id": "OVOL1_HUMAN", "mass": 30259.0, "length": 267, "protein_name": "Putative transcription factor Ovo-like 1", "gene_name": "OVOL1", "organism": "Human", "refseq_name": "putative transcription factor Ovo-like 1", "refseq_ac": "NP_004552", "gene_names_uniprotkb": "OVOL1", "gene_names_refseq": "HOVO1; OVOL1", "protein_names_uniprotkb": "Putative transcription factor Ovo-like 1; hOvo1", "protein_names_refseq": "ovo homolog-like 1; ovo like zinc finger 1; ovo-like 1(Drosophila); putative transcription factor Ovo-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5017)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;22737237;25576301;29557506;29786170;29789417;30418433;30779550;31154438;31844290;33333123;33981976;34087483;34185709;35078690;35318648;35484112;35580925;36241641;36284347;38907248;9383297", "class_list": "", "function": "Association of HLA-DPB1, NLRP10, OVOL1, and ABCC11 with the axillary microbiome in a Japanese population., [RefSeq, PubMed]; Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular phylogeny of OVOL1, OVOL2 and OVOL3 genes illustrates a conserved C2H2 zinc finger domain coupled by hypervariable unstructured regions in humans and other species, [RefSeq, PubMed]; OVOL1 Regulates Psoriasis-Like Skin Inflammation and Epidermal Hyperplasia., [RefSeq, PubMed]; OVOL1 inhibits breast cancer cell invasion by enhancing the degradation of TGF-beta type I receptor. Publication Status: Online-Only, [RefSeq, PubMed]; Putative transcription factor. Involved in hair formation and spermatogenesis. May function in the differentiation and/or maintenance of the urogenital system (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q6PCB1", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0009913 epidermal cell differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O14753-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P56373-1", "uniprot_id": "P2RX3_HUMAN", "mass": 44289.0, "length": 397, "protein_name": "P2X purinoceptor 3", "gene_name": "P2RX3", "organism": "Human", "refseq_name": "P2X purinoceptor 3", "refseq_ac": "NP_002550", "gene_names_uniprotkb": "P2RX3", "gene_names_refseq": "P2RX3; P2X3", "protein_names_uniprotkb": "P2X purinoceptor 3; ATP receptor; P2X3; Purinergic receptor", "protein_names_refseq": "ATP receptor; P2X purinoceptor 3; P2X receptor, subunit 3; purinergic receptor P2X, ligand gated ion channel, 3; purinergic receptor P2X3; purinoceptor P2X3", "tax_id": 9606, "disease": "", "pathway": " (hsa:5024); (R-HSA-139853); (R-HSA-418346)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "10228183;10440098;11237011;11805119;12907444;21186285;21882811;2457808;24755854;25418920;25707358;27626375;28898282;29393594;29674445;31232692;31844290;35051231;8646775;9016352;9494101;9565569;9930701", "class_list": "", "function": "Druggable negative allosteric site of P2X3 receptors., [RefSeq, PubMed]; Extracellular ATP-activated non-selective cation channel (PubMed:10440098, PubMed:27626375, PubMed:29674445, PubMed:31232692). Plays particularly important role in sensory neurons where its activation is critical for gustatory, nociceptive responses, visceral reflexes and sensory hypersensitization (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; P2X3 expressions in endometriosis endometrium and endometriotic lesions were significantly higher as compared with control endometrium, and positively correlated with pain. Publication Status: Online-Only, [RefSeq, PubMed]; The authors used structural, computational and functional approaches to show that a crucial acidic chamber near the nucleotide-binding pocket in human P2X3 receptors accommodates divalent ions in two distinct modes in the absence and presence of nucleotide. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [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": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 22, "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": "Q6DK37;Q9UQB6", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0001614 purinergic nucleotide receptor activity;GO:0004931 extracellularly ATP-gated monoatomic cation channel activity;GO:0015267 channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0043235 receptor complex;GO:0098794 postsynapse;GO:0098686 hippocampal mossy fiber to CA3 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0055085 transmembrane transport;GO:0050850 positive regulation of calcium-mediated signaling;GO:0050804 modulation of chemical synaptic transmission;GO:0070207 protein homotrimerization", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P56373-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51575-1", "uniprot_id": "P2RX1_HUMAN", "mass": 44980.0, "length": 399, "protein_name": "P2X purinoceptor 1", "gene_name": "P2RX1", "organism": "Human", "refseq_name": "P2X purinoceptor 1", "refseq_ac": "NP_002549", "gene_names_uniprotkb": "P2RX1; P2X1", "gene_names_refseq": "P2RX1; P2X1", "protein_names_uniprotkb": "P2X purinoceptor 1; ATP receptor; P2X1; Purinergic receptor", "protein_names_refseq": "ATP receptor; P2X purinoceptor 1; P2X receptor, subunit 1; P2X1 receptor; purinergic receptor P2X, ligand gated ion channel, 1; purinergic receptor P2X1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5023); (R-HSA-139853); (R-HSA-418346); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 42, "publication_id_list": "10228183;10440098;10816552;11237011;11805119;11809854;12907444;14699168;15056721;16371009;19635923;20699225;21882811;22971236;23090970;23481700;23650620;2457808;25707358;29242379;29557506;31154438;31844290;32350084;32387766;32805257;32897882;34509645;35051231;35580925;36418376;37046119;37074911;39353889;8646775;8692836;8809107;8834001;8961184;9494101;9565569;9930701", "class_list": "", "function": "ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and with relatively high calcium permeability (PubMed:10440098, PubMed:15056721, PubMed:20699225, PubMed:8834001, PubMed:8961184). Furthermore, CTP functions as a weak affinity agonist for P2RX1 (PubMed:14699168). Plays a role a role in urogenital, immune and cardiovascular function (By similarity). Specifically, plays an important role in neurogenic contraction of smooth muscle of the vas deferens, and therefore is essential for normal male reproductive function (By similarity). In addition, contributes to smooth muscle contractions of the urinary bladder (By similarity). On platelets, contributes to platelet activation and aggregation and thereby, also to thrombosis (By similarity). On neutrophils, it is involved in chemotaxis and in mitigating the activation of circulating cells (PubMed:19635923)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Cryo-EM structures of the human P2X1 receptor reveal subtype-specific architecture and antagonism by supramolecular ligand-binding. Publication Status: Online-Only, [RefSeq, PubMed]; Functional expression of P2X1, P2X4 and P2X7 purinergic receptors in human monocyte-derived macrophages., [RefSeq, PubMed]; P2X1 enhances leukemogenesis through PBX3-BCAT1 pathways., [RefSeq, PubMed]; P2rx1 deficiency alleviates acetaminophen-induced acute liver failure by regulating the STING signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 9781, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q9UK84", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0005261 monoatomic cation channel activity;GO:0001614 purinergic nucleotide receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0007165 signal transduction;GO:0019228 neuronal action potential;GO:0006915 apoptotic process;GO:0008217 regulation of blood pressure", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P51575-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15527-1", "uniprot_id": "OGG1_HUMAN", "mass": 38782.0, "length": 345, "protein_name": "N-glycosylase/DNA lyase", "gene_name": "OGG1", "organism": "Human", "refseq_name": "N-glycosylase/DNA lyase isoform 1a", "refseq_ac": "NP_002533", "gene_names_uniprotkb": "OGG1; MMH; MUTM; OGH1", "gene_names_refseq": "HMMH; HOGG1; MUTM; OGG1; OGH1", "protein_names_uniprotkb": "N-glycosylase/DNA lyase", "protein_names_refseq": "8-hydroxyguanine DNA glycosylase; AP lyase; DNA-apurinic or apyrimidinic site lyase; N-glycosylase/DNA lyase isoform 1a; N-glycosylase/DNA lyase; OGG1 type 1f", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); nonpapillary renal cell carcinoma (Disease Ontology:DOID:0050387); prostate cancer (Disease Ontology:DOID:10283); pre-eclampsia (Disease Ontology:DOID:10591); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); gestational diabetes (Disease Ontology:DOID:11714); Graves' disease (Disease Ontology:DOID:12361); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); hepatitis (Disease Ontology:DOID:2237); transient cerebral ischemia (Disease Ontology:DOID:224); ovarian cancer (Disease Ontology:DOID:2394); basal cell carcinoma (Disease Ontology:DOID:2513); transitional cell carcinoma (Disease Ontology:DOID:2671); angiomyolipoma (Disease Ontology:DOID:3314); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); renal cell carcinoma (Disease Ontology:DOID:4450); cholangiocarcinoma (Disease Ontology:DOID:4947); head and neck squamous cell carcinoma (Disease Ontology:DOID:5520); progressive supranuclear palsy (Disease Ontology:DOID:678); cataract (Disease Ontology:DOID:83); type 2 diabetes mellitus (Disease Ontology:DOID:9352); senile cataract (Disease Ontology:DOID:9669)", "pathway": " (hsa:4968); (R-HSA-110328); (R-HSA-110329); (R-HSA-110330); (R-HSA-110331); (R-HSA-110357); (R-HSA-5649702); (R-HSA-9656255); (R-HSA-9656256)", "pathway_count": 9, "publication_count": 229, "publication_id_list": "10074426;10233168;10449904;10497264;10706276;10744126;10775435;10882850;10908322;10930409;10987279;11002420;11056019;11139613;11160897;11163244;11237011;11307145;11448535;11827746;11889051;11902834;11904416;12097317;12140329;12164330;12456671;12509224;12519758;12578369;12582029;12592398;12717837;12718543;12779082;14634453;15077011;15184269;15260972;15341901;15449173;15466987;15479784;15551330;15596047;15610848;15667866;15713479;15823533;15896461;15946795;15990162;16195237;16221681;16381036;16492938;16609022;16800823;16982218;17074750;17085873;17114185;17148573;17220334;17417784;17426120;17537817;17651912;17827862;17991492;18628426;18805789;1924375;19266243;19391486;19537786;19561388;19881468;19914697;19966524;20054639;20058067;20069464;20571908;20593951;20602259;20649433;20845517;21166493;21376741;21401806;21426661;21561390;21614567;21695387;21722948;21727658;21790253;21866464;21899442;21914193;21986195;22114677;22156293;22294108;22296498;22320944;22343785;22424782;22451681;22463382;22471492;22526153;22540013;22569481;22799296;22848106;22857644;22941157;22962365;23023028;23038158;23065211;23079842;23186590;23271362;23368532;23481700;23577090;23755964;23762419;23852950;23909557;23951099;24085357;24186001;24281202;24632493;24715725;24729390;24893568;25086253;25227662;25323581;25418920;25576301;25645385;26089588;26095805;26124010;26154972;26309550;26375851;26600527;26629147;27022219;27354518;27583352;27600516;27822728;28063628;28218747;28228285;28334993;28448977;28608470;28832583;28854357;28904123;29242379;29437277;29557506;29560133;29632711;29737460;29773766;30410026;31530632;31844290;32157095;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33392160;33691108;33912179;33936100;33968037;34171305;34509645;35051231;35580925;36010968;36215666;38554113;39119702;39341999;39413143;39477986;7479006;8016081;8110764;8218289;8284199;8407958;8475094;8662714;9187114;9190902;9197244;9200707;9207108;9223305;9223306;9321410;9331411;9348312;9430628;9662341;9705289;9724657;9765618;9790531;9811839;9890904", "class_list": "", "function": "8-Oxoguanine DNA Glycosylase1 conceals oxidized guanine in nucleoprotein-associated RNA of respiratory syncytial virus. Publication Status: Online-Only, [RefSeq, PubMed]; DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Human 8-oxoguanine glycosylase OGG1 binds nucleosome at the dsDNA ends and the super-helical locations. Publication Status: Online-Only, [RefSeq, PubMed]; OGG1: An emerging multifunctional therapeutic target for the treatment of diseases caused by oxidative DNA damage. Review article, [RefSeq, PubMed]; SIRT2 promotes base excision repair by transcriptionally activating OGG1 in an ATM/ATR-dependent manner., [RefSeq, PubMed]; Structural basis for human OGG1 processing 8-oxodGuo within nucleosome core particles. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 27, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K1E3;O00390;O00670;O00705;O14876;O95488;P78554;Q9BW42;Q9UIK0;Q9UIK1;Q9UIK2;Q9UL34;Q9Y2C0;Q9Y2C1;Q9Y6C3;Q9Y6C4", "ec_number_list": "4.2.99.18;3.2.2.-;2.7.7.7;4.2.99.-;5.6.2.4;1.14.11.51;1.14.11.-;1.14.11.33", "go_molecular_function": "GO:0032357 oxidized purine DNA binding;GO:0034039 8-oxo-7,8-dihydroguanine DNA N-glycosylase activity;GO:0003677 DNA binding;GO:0008017 microtubule binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:1901291 negative regulation of double-strand break repair via single-strand annealing;GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0006979 response to oxidative stress;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006284 base-excision repair", "synthesized_glycan_count": 0, "hit_score": 23.0, "record_id": "O15527-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60422-1", "uniprot_id": "ONEC3_HUMAN", "mass": 50037.0, "length": 494, "protein_name": "One cut domain family member 3", "gene_name": "ONECUT3", "organism": "Human", "refseq_name": "one cut domain family member 3", "refseq_ac": "NP_001073957", "gene_names_uniprotkb": "ONECUT3", "gene_names_refseq": "OC3; ONECUT3", "protein_names_uniprotkb": "One cut domain family member 3; OC-3; One cut homeobox 3; Transcription factor ONECUT-3", "protein_names_refseq": "OC-3; one cut domain family member 3; transcription factor ONECUT-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:390874); (R-HSA-210744); (R-HSA-210747)", "pathway_count": 3, "publication_count": 15, "publication_id_list": "11944891;25418920;28464601;29557506;29789417;31049588;32502341;32938616;33968037;33981976;35051231;35318648;36010968;37875589;38386414", "class_list": "", "function": "Data show that chromatin regions that contain the ONECUT motif were in- or lowly accessible in fibroblasts and became accessible after the overexpression of ONECUT1, ONECUT2 or ONECUT3., [RefSeq, PubMed]; Ectopic expression of the transcription factor ONECUT3 drives a complex karyotype in myelodysplastic syndromes. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of ONECUT3 as a stemness-related transcription factor regulating NK cell-mediated immune evasion in pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; In conclusion, CD44 and Oct3/4 overexpression may imply malignant transformation of pancreatic ducts and could help pathologists make a more accurate diagnosis and decision on clear surgical margins., [RefSeq, PubMed]; Transcriptional activator. Binds the consensus DNA sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8MZM7", "ec_number_list": "", "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O60422-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60431-1", "uniprot_id": "OR1I1_HUMAN", "mass": 39297.0, "length": 355, "protein_name": "Olfactory receptor 1I1", "gene_name": "OR1I1", "organism": "Human", "refseq_name": "olfactory receptor 1I1", "refseq_ac": "NP_001004713", "gene_names_uniprotkb": "OR1I1", "gene_names_refseq": "OR19-20; OR1I1P; OR1I1Q; OR1I1", "protein_names_uniprotkb": "Olfactory receptor 1I1; OR19-20; Olfactory receptor 19-20", "protein_names_refseq": "olfactory receptor 19-20; olfactory receptor 1I1", "tax_id": 9606, "disease": "", "pathway": " (hsa:126370); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "24366607;24800820;27515280;29557506;31844290;31974307;32066986;33141586;34087483;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RU23;Q96R92", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "O60431-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76000-1", "uniprot_id": "OR2B3_HUMAN", "mass": 35543.0, "length": 313, "protein_name": "Putative olfactory receptor 2B3", "gene_name": "OR2B3", "organism": "Human", "refseq_name": "putative olfactory receptor 2B3", "refseq_ac": "NP_001005226", "gene_names_uniprotkb": "OR2B3; OR2B3P", "gene_names_refseq": "6M1-1; OR2B3P; OR2B3; OR6-14; OR6-4", "protein_names_uniprotkb": "Putative olfactory receptor 2B3; Hs6M1-1; OR6-4; Olfactory receptor 6-4; Olfactory receptor OR6-14", "protein_names_refseq": "hs6M1-1; olfactory receptor 6-4; olfactory receptor OR6-14; putative olfactory receptor 2B3", "tax_id": 9606, "disease": "", "pathway": " (hsa:442184); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;19851445;24800820;27515280;29557506;31974307;32066986;33141586;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; 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": 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": "B0UYQ1;Q5ST41;Q96R13", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O76000-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95047-1", "uniprot_id": "OR2A4_HUMAN", "mass": 34802.0, "length": 310, "protein_name": "Olfactory receptor 2A4", "gene_name": "OR2A4", "organism": "Human", "refseq_name": "olfactory receptor 2A4", "refseq_ac": "NP_112170", "gene_names_uniprotkb": "OR2A4; OR2A10", "gene_names_refseq": "OR2A10; OR2A4", "protein_names_uniprotkb": "Olfactory receptor 2A4; Olfactory receptor 2A10; Olfactory receptor OR6-37", "protein_names_refseq": "olfactory receptor 2A4", "tax_id": 9606, "disease": "", "pathway": " (hsa:79541); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "14983052;24800820;27315375;27515280;31974307;32066986;32983136;34932366;35051231;36215666", "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]; Proliferation tests, ELISA and kinase array indicated that OR2A4/7 and CHS play important roles in the proliferation of HaCaT cells and keratinocytes., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q0VAR3;Q6IF18;Q9NQN0", "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:0055037 recycling endosome;GO:0032154 cleavage furrow;GO:0090543 Flemming body;GO:0097431 mitotic spindle pole", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:0032467 positive regulation of cytokinesis;GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "O95047-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02818-1", "uniprot_id": "OSTCN_HUMAN", "mass": 10963.0, "length": 100, "protein_name": "Osteocalcin", "gene_name": "BGLAP", "organism": "Human", "refseq_name": "osteocalcin preproprotein", "refseq_ac": "NP_954642", "gene_names_uniprotkb": "BGLAP", "gene_names_refseq": "BGLAP; BGP; OCN; OC", "protein_names_uniprotkb": "Osteocalcin; BGP; Bone Gla protein; Gamma-carboxyglutamic acid-containing protein", "protein_names_refseq": "bone gamma-carboxyglutamate (gla) protein (osteocalcin); gamma-carboxyglutamic acid-containing protein; osteocalcin preproprotein", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); polycystic kidney disease (Disease Ontology:DOID:0080322); calcium oxalate nephrolithiasis (Disease Ontology:DOID:0080652); autosomal dominant hypocalcemia (Disease Ontology:DOID:0090109); neurofibromatosis 1 (Disease Ontology:DOID:0111253); progressive osseous heteroplasia (Disease Ontology:DOID:0111535); prostate cancer (Disease Ontology:DOID:10283); vitamin K deficiency bleeding (Disease Ontology:DOID:11249); osteoporosis (Disease Ontology:DOID:11476); nephrotic syndrome (Disease Ontology:DOID:1184); Parkinson's disease (Disease Ontology:DOID:14330); cystic fibrosis (Disease Ontology:DOID:1485); calcinosis (Disease Ontology:DOID:182); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); osteoarthritis (Disease Ontology:DOID:8398); Crohn's disease (Disease Ontology:DOID:8778); type 2 diabetes mellitus (Disease Ontology:DOID:9352); diabetes insipidus (Disease Ontology:DOID:9409); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:632); (R-HSA-159740); (R-HSA-159763); (R-HSA-159782); (R-HSA-8940973)", "pathway_count": 5, "publication_count": 40, "publication_id_list": "10068650;10917896;11106645;11252894;11513608;11545733;12231506;12391164;12529404;14765127;16025100;16099986;16751105;18477452;19389811;19801668;20686481;20877012;21173110;2336375;24893146;25753038;25865393;2664828;26967290;2738071;27797343;3019668;38053107;38055125;38093960;38609129;38803289;39880952;6967872;7891679;8336730;8473289;8530480;9182762", "class_list": "", "function": "ASSESSMENT OF OSTEOPONTIN, SCLEROSTIN, AND OSTEOCALCIN LEVELS IN PATIENTS WITH HYPOTHYROIDISM ON MEDICAL THERAPY., [RefSeq, PubMed]; Association between serum osteocalcin and atherosclerosis in Type-2 diabetes mellitus: a cross-sectional study. Erratum:[BMC Endocr Disord. 2024 Jan 19;24(1):11. doi: 10.1186/s12902-024-01538-z. PMID: 38243261] Publication Status: Online-Only, [RefSeq, PubMed]; In this review, we summarize the current knowledge on osteocalcin functions, its various modes of action and the mechanisms implicated in the control of this hormone. [review] Review article, [RefSeq, PubMed]; Osteocalcin has a muscle-protective effect during weight loss in men without metabolic syndrome: a multicenter, prospective, observational study. Publication Status: Online-Only, [RefSeq, PubMed]; Osteocalcin: Beyond Bones. Review article, [RefSeq, PubMed]; Polymorphisms in the Runx2 and osteocalcin genes affect BMD in postmenopausal women: a systematic review and meta-analysis., [RefSeq, PubMed]; The carboxylated form is one of the main organic components of the bone matrix, which constitutes 1-2% of the total bone protein (PubMed:3019668, PubMed:6967872). Acts as a negative regulator of bone formation and is required to limit bone formation without impairing bone resorption or mineralization (By similarity). Binds strongly to apatite and calcium upon gamma-carboxylation; this modification is essential for bone metabolism (PubMed:6967872, PubMed:39880952)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; The uncarboxylated form acts as a hormone secreted by osteoblasts, which regulates different cellular processes, such as energy metabolism, male fertility and brain development. Regulates of energy metabolism by acting as a hormone favoring pancreatic beta-cell proliferation, insulin secretion and sensitivity and energy expenditure. Uncarboxylated osteocalcin hormone also promotes testosterone production in the testes: acts as a ligand for G protein-coupled receptor GPRC6A at the surface of Leydig cells, initiating a signaling response that promotes the expression of enzymes required for testosterone synthesis in a CREB-dependent manner. Also acts as a regulator of brain development: osteocalcin hormone crosses the blood-brain barrier and acts as a ligand for GPR158 on neurons, initiating a signaling response that prevents neuronal apoptosis in the hippocampus, favors the synthesis of all monoamine neurotransmitters and inhibits that of gamma-aminobutyric acid (GABA). Osteocalcin also crosses the placenta during pregnancy and maternal osteocalcin is required for fetal brain development., [UniProtKB, UniProtKB]; This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 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": 20, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TCK6", "ec_number_list": "", "go_molecular_function": "GO:0008147 structural constituent of bone;GO:0005198 structural molecule activity;GO:0005509 calcium ion binding;GO:0005179 hormone activity;GO:0046848 hydroxyapatite 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:0045124 regulation of bone resorption;GO:1900076 regulation of cellular response to insulin stimulus;GO:1903011 negative regulation of bone development;GO:0007155 cell adhesion;GO:0007611 learning or memory", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P02818-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P03999-1", "uniprot_id": "OPSB_HUMAN", "mass": 38719.0, "length": 345, "protein_name": "Short-wave-sensitive opsin 1", "gene_name": "OPN1SW", "organism": "Human", "refseq_name": "short-wave-sensitive opsin 1", "refseq_ac": "NP_001372054", "gene_names_uniprotkb": "OPN1SW; BCP", "gene_names_refseq": "BCP; BOP; CBT; OPN1SW", "protein_names_uniprotkb": "Short-wave-sensitive opsin 1; BOP; Blue cone photoreceptor pigment; Blue-sensitive opsin", "protein_names_refseq": "blue cone photoreceptor pigment; blue-sensitive opsin; opsin 1 (cone pigments), short-wave-sensitive; short-wave-sensitive opsin 1", "tax_id": 9606, "disease": "blue color blindness (Disease Ontology:DOID:11661)", "pathway": " (hsa:611); (R-HSA-2187335); (R-HSA-418594); (R-HSA-419771); (R-HSA-9918443)", "pathway_count": 5, "publication_count": 57, "publication_id_list": "10234000;10581022;10632589;11007482;12120503;12177057;12367507;1302020;13249225;1386496;14623103;14946611;1531728;1557123;15674243;15951850;16106050;16128572;16634148;16923326;1742276;18434541;18577758;1925597;19781940;19846785;23022137;2303470;23143414;23905688;24799687;2534964;2542268;2565599;2748346;28096191;2834384;2937147;30168605;31380578;3170584;31730232;32400513;3303660;3485310;3872255;4772407;6140680;6589631;7937899;7947717;8015379;8406495;9089077;9275222;9541407;9705317", "class_list": "", "function": "G protein-coupled photoreceptor that selectively activates G(i) proteins in response to short-wavelength (blue-violet) light, thereby decreasing intracellular cAMP levels (PubMed:2937147, PubMed:6140680, Ref.10). Activation occurs when the opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers a G protein-mediated phototransduction cascade (Ref.10). Required for the maintenance of cone outer segment organization in the ventral retina, but not essential for the maintenance of cone photoreceptor function (By similarity). Involved in ensuring the correct abundance and localization of retinal membrane proteins (By similarity). Mediates visual perception of blue light (PubMed:1386496, PubMed:1531728, PubMed:23022137). May contribute to increased spectral sensitivity under dim light conditions (By similarity). Is not UV-sensitive (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, PubMed]; This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]., [RefSeq]; Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "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": "Q13877", "ec_number_list": "", "go_molecular_function": "GO:0008020 G protein-coupled photoreceptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0097381 photoreceptor disc membrane;GO:0001917 photoreceptor inner segment;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0016038 absorption of visible light;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "P03999-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C645-1", "uniprot_id": "OR4E1_HUMAN", "mass": 35737.0, "length": 315, "protein_name": "Olfactory receptor 4E1", "gene_name": "OR4E1", "organism": "Human", "refseq_name": "olfactory receptor 4E1", "refseq_ac": "NP_001304036", "gene_names_uniprotkb": "OR4E1; OR4E1P", "gene_names_refseq": "OR4E1P; OR4E1", "protein_names_uniprotkb": "Olfactory receptor 4E1; Olfactory receptor OR14-43", "protein_names_refseq": "olfactory receptor 4E1; olfactory receptor OR14-43; olfactory receptor, family 4, subfamily E, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:26687); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;17973576;24800820;27515280;31974307;32066986;32387766;34509645;36215666", "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": 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": "A0A126GWU0", "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:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P0C645-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C6T2-1", "uniprot_id": "OST4_HUMAN", "mass": 4193.0, "length": 37, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4", "gene_name": "OST4", "organism": "Human", "refseq_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4", "refseq_ac": "NP_001128165", "gene_names_uniprotkb": "OST4", "gene_names_refseq": "OST4", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4", "protein_names_refseq": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4; oligosaccharyltransferase 4 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:100128731); (R-HSA-446203); (R-HSA-9694548); (R-HSA-9768727); (R-HSA-9918432); (R-HSA-9931295)", "pathway_count": 6, "publication_count": 80, "publication_id_list": "10228156;11470266;12089159;12171918;12678917;12893276;14514716;14688233;16317064;17261850;18491227;19835842;19913121;20628086;20798515;21609714;22375065;22915798;23606741;24112972;24681004;24966173;25576301;26208004;26416966;27255086;27383988;27572267;27846572;28218747;28228593;2834401;28512129;28855257;28904123;29242379;29317506;29393594;29557506;29765039;30118680;30315122;30429286;31305264;31611695;31831667;31844290;31848261;32157095;32357974;32363391;32366695;32518941;32676595;32938616;33310888;33592498;33981976;34087483;34117209;34357683;34428449;34433824;34528721;34599882;34961524;35154160;35215835;35251023;36241641;36697828;36719382;37938771;38670073;38793607;39894887;6156677;7072193;7982500;7986008", "class_list": "glycogene", "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]; Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. Specifically involved in maintaining stability of STT3A-containing OST complexes., [UniProtKB, PubMed, PubMed]; This study determined the solution structure of human Ost4 in solvent system using NMR spectroscopy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 37, "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:0005789 endoplasmic reticulum membrane;GO:0008250 oligosaccharyltransferase complex;GO:0160226 oligosaccharyltransferase complex A;GO:0160227 oligosaccharyltransferase complex B", "go_biological_process": "GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P0C6T2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DN78-1", "uniprot_id": "OPSG3_HUMAN", "mass": 40584.0, "length": 364, "protein_name": "Medium-wave-sensitive opsin 3", "gene_name": "OPN1MW3", "organism": "Human", "refseq_name": "medium-wave-sensitive opsin 3", "refseq_ac": "NP_001316996", "gene_names_uniprotkb": "OPN1MW3", "gene_names_refseq": "GCP; GOP; OPN1MW3", "protein_names_uniprotkb": "Medium-wave-sensitive opsin 3; GOP; Green cone photoreceptor pigment; Green-sensitive opsin; opsin 1 cone pigments medium-wave-sensitive 3", "protein_names_refseq": "green cone photoreceptor pigment; green-sensitive opsin; medium-wave-sensitive opsin 3; opsin 1 (cone pigments), medium-wave-sensitive 3; opsin 1 cone pigments medium-wave-sensitive 3", "tax_id": 9606, "disease": "blue cone monochromacy (Disease Ontology:DOID:0050679)", "pathway": " (hsa:101060233); (hsa:2652); (hsa:728458)", "pathway_count": 3, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "G protein-coupled photoreceptor that selectively activates G(i) proteins in response to medium-wavelength (green) light, thereby decreasing intracellular cAMP levels. Activation occurs when the opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers a G protein-mediated phototransduction cascade. Mediates visual perception of green light in cone photoreceptor cells., [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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0008020 G protein-coupled photoreceptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0001750 photoreceptor outer segment;GO:0120201 cone photoreceptor disc membrane", "go_biological_process": "GO:0016038 absorption of visible light;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0007602 phototransduction", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DN78-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29803-1", "uniprot_id": "ODPAT_HUMAN", "mass": 42933.0, "length": 388, "protein_name": "Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial", "gene_name": "PDHA2", "organism": "Human", "refseq_name": "pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial precursor", "refseq_ac": "NP_005381", "gene_names_uniprotkb": "PDHA2; PDHAL", "gene_names_refseq": "PDHA2; PDHAL; SPGF70", "protein_names_uniprotkb": "Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial; 1.2.4.1; PDHE1-A type II", "protein_names_refseq": "PDHE1-A type II; pyruvate dehydrogenase (lipoamide) alpha 2; pyruvate dehydrogenase E1 alpha 2 subunit; pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial precursor; pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial; pyruvate dehydrogenase alpha 2; pyruvate dehydrogenase, E1-alpha polypeptide, testis specific", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); spermatogenic failure 70 (Disease Ontology:DOID:0070569); pyruvate decarboxylase deficiency (Disease Ontology:DOID:3649); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:5161); (R-HSA-204174); (R-HSA-5362517); (R-HSA-9861559)", "pathway_count": 4, "publication_count": 56, "publication_id_list": "10493790;11327815;11485553;11486000;11909957;12651851;14638692;14966024;15855260;15866176;15946682;16049940;16436377;17081983;17532339;17544412;18088087;18542081;18669648;19144697;19413330;19651622;19833728;19850744;20042001;20068231;20215566;20884751;21504868;21998312;2249846;22750801;22871568;23991366;25525879;26992070;28904123;29242379;29437277;29581481;30226598;30410026;31536960;3174635;33912179;35172124;35494241;7499431;7704533;8798399;9045657;9395502;9405293;9651365;9710704;9815194", "class_list": "", "function": "Our findings show that also recessive complex digit malformation can be caused by BMPR1B variant and not all biallelic BMPR1B variants cause acromesomelic dysplasia. PDHA2 is a novel candidate gene for male infertility; the protein product is a mitochondrial enzyme with highest expression in ejaculated sperm., [RefSeq, PubMed]; Our results indicated that miR215p targeted PDHA1 to regulate a metabolic switch and cancer progression in gastric cancer, and reveal the potential role of the miR215p/PDHA1 axis in gastric cancer treatment, [RefSeq, PubMed]; Together with PDHB forms the heterotetrameric E1 subunit of the pyruvate dehydrogenase (PDH) complex in testis (PubMed:14638692). The PDH complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle (Probable). It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3) (Probable). The E1 subunit catalyzes both the thiamine pyrophosphate (TPP)-dependent decarboxylation of pyruvate and the reductive acetylation of a lipoyl group covalently linked to the lipoyl-bearing domains of E2 (PubMed:16436377)., [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": 10, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 19, "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": "B2R9Q3;Q0VDI5;Q4VC02;Q6NXQ1", "ec_number_list": "1.2.4.1;1.8.1.4;2.3.1.-;2.3.1.12;2.7.11.2;2.7.11.-;3.1.3.43", "go_molecular_function": "GO:0046872 metal ion binding;GO:0004739 pyruvate dehydrogenase (acetyl-transferring) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045254 pyruvate dehydrogenase complex", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006006 glucose metabolic process;GO:0006086 pyruvate decarboxylation to acetyl-CoA", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P29803-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P32243-1", "uniprot_id": "OTX2_HUMAN", "mass": 31636.0, "length": 289, "protein_name": "Homeobox protein OTX2", "gene_name": "OTX2", "organism": "Human", "refseq_name": "homeobox protein OTX2 isoform b", "refseq_ac": "NP_001257452", "gene_names_uniprotkb": "OTX2", "gene_names_refseq": "CPHD6; MCOPS5; OTX2", "protein_names_uniprotkb": "Homeobox protein OTX2; Orthodenticle homolog 2", "protein_names_refseq": "homeobox protein OTX2 isoform b; homeobox protein OTX2; orthodenticle homolog 2", "tax_id": 9606, "disease": "combined pituitary hormone deficiency 6 (Disease Ontology:DOID:0061022); syndromic microphthalmia 5 (Disease Ontology:DOID:0111806); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:5015); (R-HSA-9823739); (R-HSA-9832991)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "10372988;11237011;15846561;18628516;18728160;18781617;18854396;19414065;19956411;20074535;20396904;22577225;22715480;24167467;24580054;25293953;27052315;33968037;36368868;36403175;36649236;38026167;38674001;8101484", "class_list": "", "function": "Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas: 'it's a numbers game'-implications for WNT medulloblastoma dose-reduction clinical trials., [RefSeq, PubMed]; OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum., [RefSeq, PubMed]; The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; The OTX2 Gene Induces Tumor Growth and Triggers Leptomeningeal Metastasis by Regulating the mTORC2 Signaling Pathway in Group 3 Medulloblastomas. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012]., [RefSeq]; Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RAN5;Q6GTV3;Q9HAW3;Q9P2R1", "ec_number_list": "", "go_molecular_function": "GO:0008190 eukaryotic initiation factor 4E binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0030426 growth cone;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0040036 regulation of fibroblast growth factor receptor signaling pathway;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030900 forebrain development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P32243-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41146-1", "uniprot_id": "OPRX_HUMAN", "mass": 40693.0, "length": 370, "protein_name": "Nociceptin receptor", "gene_name": "OPRL1", "organism": "Human", "refseq_name": "nociceptin receptor isoform 1", "refseq_ac": "NP_000904", "gene_names_uniprotkb": "OPRL1; OOR; ORL1", "gene_names_refseq": "KOR-3; KOR3; NOCIR; NOPr; NOP; OOR; OPRL1; OPRL; ORL1; PNOCR", "protein_names_uniprotkb": "Nociceptin receptor; KOR-3; Kappa-type 3 opioid receptor; Orphanin FQ receptor", "protein_names_refseq": "kappa-type 3 opioid receptor; kappa3-related opioid receptor; nociceptin receptor isoform 1; nociceptin receptor; nociceptin/orphanin FQ receptor; opiate receptor-like 1; orphanin FQ receptor", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); autism spectrum disorder (Disease Ontology:DOID:0060041); sciatic neuropathy (Disease Ontology:DOID:11446); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); cocaine abuse (Disease Ontology:DOID:809); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:4987); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11237011;11238602;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12568343;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;22596163;23086955;23446738;23690594;24906252;2534964;2649896;26992070;2748346;27496565;28228285;2834384;28834231;31154438;31844290;31848261;3202875;32157095;32488085;32502341;3366244;34932366;35051231;3525564;37364634;37938771;3856870;6274691;6281660;6373251;6589611;7057924;7500847;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8137918;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": "G protein-coupled opioid receptor that functions as a receptor for the endogenous neuropeptide nociceptin. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling via G proteins mediates inhibition of adenylate cyclase activity and calcium channel activity. Arrestins modulate signaling via G proteins and mediate the activation of alternative signaling pathways that lead to the activation of MAP kinases. Plays a role in modulating nociception and the perception of pain. Plays a role in the regulation of locomotor activity by the neuropeptide nociceptin., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; G-protein coupled opioid receptor that functions as a receptor for the endogenous neuropeptide nociceptin. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling via G proteins mediates inhibition of adenylate cyclase activity and calcium channel activity. Arrestins modulate signaling via G proteins and mediate the activation of alternative signaling pathways that lead to the activation of MAP kinases. Plays a role in modulating nociception and the perception of pain. Plays a role in the regulation of locomotor activity by the neuropeptide nociceptin., [UniProtKB, UniProtKB, UniProtKB]; Heterodimerization of apelin and opioid receptor-like 1 receptors mediates apelin-13-induced G protein biased signaling., [RefSeq, PubMed]; The protein encoded by this gene is a member of the 7 transmembrane-spanning G protein-coupled receptor family, and functions as a receptor for the endogenous, opioid-related neuropeptide, nociceptin/orphanin FQ. This receptor-ligand system modulates a variety of biological functions and neurobehavior, including stress responses and anxiety behavior, learning and memory, locomotor activity, and inflammatory and immune responses. A promoter region between this gene and the 5'-adjacent RGS19 (regulator of G-protein signaling 19) gene on the opposite strand functions bi-directionally as a core-promoter for both genes, suggesting co-operative transcriptional regulation of these two functionally related genes. Alternatively spliced transcript variants have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8TD34;Q8WYH9;Q9H4K4", "ec_number_list": "", "go_molecular_function": "GO:0001626 nociceptin receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle;GO:0043005 neuron projection;GO:0097060 synaptic membrane", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0019722 calcium-mediated signaling;GO:0007600 sensory perception;GO:0019233 sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P41146-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P41231-1", "uniprot_id": "P2RY2_HUMAN", "mass": 42273.0, "length": 377, "protein_name": "P2Y purinoceptor 2", "gene_name": "P2RY2", "organism": "Human", "refseq_name": "P2Y purinoceptor 2", "refseq_ac": "NP_788085", "gene_names_uniprotkb": "P2RY2; P2RU1", "gene_names_refseq": "HP2U; P2RU1; P2RY2; P2U1; P2UR; P2U; P2Y2R; P2Y2", "protein_names_uniprotkb": "P2Y purinoceptor 2; ATP receptor; P2U purinoceptor 1; P2U receptor 1; P2U1; P2Y2; Purinergic receptor", "protein_names_refseq": "ATP receptor; P2U nucleotide receptor; P2U purinoceptor 1; P2U receptor 1; P2Y purinoceptor 2; purinergic receptor P2Y, G-protein coupled, 2; purinoceptor P2Y2", "tax_id": 9606, "disease": "impotence (Disease Ontology:DOID:1875)", "pathway": " (hsa:5029); (R-HSA-416476); (R-HSA-417957); (R-HSA-5683826); (R-HSA-9856530)", "pathway_count": 5, "publication_count": 141, "publication_id_list": "10191087;10368295;10376603;10485905;10496952;10567430;10580105;10625644;10639123;10649434;10727532;10753868;10764742;10861009;11004484;11015615;11156592;11196645;11278984;11546776;11563989;11742120;11753430;11853546;11968001;12120503;12176338;12185598;12386137;12458155;12724311;12882447;1325798;1339284;1415726;15199474;15304325;1568474;15718470;15926889;15951850;16006481;16182515;16199866;16268477;16268778;16339447;1636732;16423266;16630564;16754659;16774927;16780920;16923326;16990797;17166850;17496061;18020944;18297070;18434541;18466763;18515384;18577758;18692472;18710921;18936096;1898081;19020623;1905813;19100526;19144824;1928448;19339661;19552634;19723632;19824815;20054143;20147294;20338813;20418254;23069847;23590306;23684610;23890048;23922714;24393016;24414167;24743970;2515193;25424900;2587265;2610270;26194851;26758983;26992070;27566546;27694321;27797339;28089137;2841328;2995821;3037072;3086311;31205027;32296767;32387766;32983136;3304967;3366248;33968037;34499618;34631;35051231;36925196;37165911;3755136;3801783;38141758;7597036;7809171;7876172;7937899;8159738;8314870;8428971;8522976;8527267;8537336;8636114;8664309;8666290;8670200;8700127;8720746;9223435;9305846;9364473;9405388;9620797;9770463;9813380", "class_list": "", "function": "Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies., [RefSeq, PubMed]; P2Y2R-mediated transactivation of VEGFR2 through Src phosphorylation is associated with ESM-1 overexpression in radiotherapy-resistant-triple negative breast cancer cells., [RefSeq, PubMed]; Receptor for ATP and UTP coupled to G proteins that activate a phosphatidylinositol-calcium second messenger system. The affinity range is UTP = ATP > ATP-gamma-S >> 2-methylthio-ATP = ADP., [UniProtKB]; The P2Y2 receptor mediates terminal adipocyte differentiation and insulin resistance: Evidence for a dual G-protein coupling mode., [RefSeq, PubMed]; The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, found on many cell types, is activated by ATP and UTP and is reported to be overexpressed on some cancer cell types. It is involved in many cellular functions, such as proliferation, apoptosis and inflammation. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Mar 2013]., [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": 15, "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": "B2R9W3;Q96EM8", "ec_number_list": "", "go_molecular_function": "GO:0031686 A1 adenosine receptor binding;GO:0045030 G protein-coupled UTP receptor activity;GO:0045028 G protein-coupled purinergic nucleotide receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0035589 G protein-coupled purinergic nucleotide receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0097746 blood vessel diameter maintenance;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0006873 intracellular monoatomic ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "P41231-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P47874-1", "uniprot_id": "OMP_HUMAN", "mass": 18937.0, "length": 163, "protein_name": "Olfactory marker protein", "gene_name": "OMP", "organism": "Human", "refseq_name": "olfactory marker protein", "refseq_ac": "NP_006180", "gene_names_uniprotkb": "OMP", "gene_names_refseq": "OMP", "protein_names_uniprotkb": "Olfactory marker protein; Olfactory neuronal-specific protein", "protein_names_refseq": "olfactory marker protein; olfactory neuronal-specific protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:4975)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "19913121;20628086;32703433;33392160;33592498;36309704;36333725;37217939;8034318", "class_list": "", "function": "May act as a modulator of the olfactory signal-transduction cascade., [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]; Olfactory marker protein captures cAMP produced via Galphas-protein-coupled receptor activation., [RefSeq, PubMed]; Olfactory marker protein contains a leucine-rich domain in the Omega-loop important for nuclear export. Publication Status: Online-Only, [RefSeq, PubMed]; Olfactory marker protein is uniquely associated with the mature olfactory receptor neurons in many vertebrate species from fish to man. The OMP gene structure and protein sequence are highly conserved between mouse, rat and human. Results of the mouse knockout studies show that OMP-null mice are compromised in their ability to respond to odor stimuli, and that OMP represents a novel modulatory component of the odor detection/signal transduction cascade. [provided by RefSeq, Jul 2008]., [RefSeq]; Olfactory marker protein is unlikely to be cleaved by calpain 5. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q562G2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0030424 axon;GO:0043025 neuronal cell body;GO:0045202 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007268 chemical synaptic transmission;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P47874-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P47883-1", "uniprot_id": "OR3A4_HUMAN", "mass": 37194.0, "length": 348, "protein_name": "Putative olfactory receptor 3A4", "gene_name": "OR3A4P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "OR3A4P; OR3A4; OR3A5P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative olfactory receptor 3A4; OR17-24; Olfactory receptor 17-24; Olfactory receptor 3A5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "8004088", "class_list": "", "function": "Odorant receptor., [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": 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": "Q96R24", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P47883-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P47890-1", "uniprot_id": "OR1G1_HUMAN", "mass": 34924.0, "length": 313, "protein_name": "Olfactory receptor 1G1", "gene_name": "OR1G1", "organism": "Human", "refseq_name": "olfactory receptor 1G1", "refseq_ac": "NP_003546", "gene_names_uniprotkb": "OR1G1; OR1G2", "gene_names_refseq": "OR17-130; OR17-209; OR1G1; OR1G2", "protein_names_uniprotkb": "Olfactory receptor 1G1; OR17-209; Olfactory receptor 17-209; Olfactory receptor 1G2; Olfactory receptor OR17-8", "protein_names_refseq": "olfactory receptor 17-209; olfactory receptor 1G1; olfactory receptor 1G2; olfactory receptor OR17-8; olfactory receptor, family 1, subfamily G, member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8390); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "10673334;12379593;14983052;18603653;22926438;24715725;24800820;27515280;30418433;31222486;31974307;32066986;8004088", "class_list": "", "function": "OR17-209 fails to bind to the pig odorant-binding protein, while OR17-201 exhibits specific saturable binding, [RefSeq, PubMed]; OR1G1 recognizes a group of odorants that share both 3D structural and perceptual qualities., [RefSeq, PubMed]; 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]; Or1g1 is examined within a model for recognition of broadly tuned olfactory receptors., [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": 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": "Q4VBM1;Q6IFL9;Q9UM76", "ec_number_list": "", "go_molecular_function": "GO:0004984 olfactory receptor activity;GO:0038022 G protein-coupled olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P47890-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P59922-1", "uniprot_id": "OR2B8_HUMAN", "mass": 35019.0, "length": 312, "protein_name": "Olfactory receptor 2B8", "gene_name": "OR2B8", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "OR2B8; OR2B8P", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 2B8; Hs6M1-29P", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "20547194", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P59922-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P78380-1", "uniprot_id": "OLR1_HUMAN", "mass": 30959.0, "length": 273, "protein_name": "Oxidized low-density lipoprotein receptor 1", "gene_name": "OLR1", "organism": "Human", "refseq_name": "oxidized low-density lipoprotein receptor 1 isoform 2", "refseq_ac": "NP_001166103", "gene_names_uniprotkb": "OLR1; CLEC8A; LOX1", "gene_names_refseq": "CLEC8A; LOX1; LOXIN; OLR1; SCARE1; SLOX1", "protein_names_uniprotkb": "Oxidized low-density lipoprotein receptor 1; C-type lectin domain family 8 member A; LOX-1; Lectin-like oxLDL receptor 1; Lectin-like oxidized LDL receptor 1; Lectin-type oxidized LDL receptor 1; Ox-LDL receptor 1; hLOX-1", "protein_names_refseq": "C-type lectin domain family 8 member A; hLOX-1; lectin-type oxidized LDL receptor 1; ox LDL receptor 1; oxidized low density lipoprotein (lectin-like) receptor 1; oxidized low-density lipoprotein receptor 1 isoform 2; oxidized low-density lipoprotein receptor 1, soluble form; scavenger receptor class E, member 1", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); coronary artery disease (Disease Ontology:DOID:3393); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); cerebral amyloid angiopathy (Disease Ontology:DOID:9246)", "pathway": " (hsa:4973); (R-HSA-202733); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 91, "publication_id_list": "10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;11821063;12070135;12073608;12208882;12354387;12384789;12469115;12646194;12782713;12807963;12810610;12878212;14529530;14615387;15000751;15060104;15276231;15528364;15681301;15695803;15721307;15860461;1591491;15935375;15939022;15976314;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;21193412;21659548;22688517;23583401;23650620;23945545;24043627;24397554;24764293;2538457;27302108;31154438;33043033;33592498;36215666;37668684;38501247;38821588;468991;7509040;7521878;8163559;8166770;8314844;8692836;9052782;9169774;9242610;9295288;9382878;9693095;9763524;9763655;9828121", "class_list": "glycogene", "function": "(Microbial infection) May serve as a receptor for adhesin A variant 3 (nadA) of N.meningitidis., [UniProtKB, PubMed]; Associations of CKIP-1 and LOX-1 polymorphisms with the risk of type 2 diabetes mellitus with hypertension among Chinese adults., [RefSeq, PubMed]; Elucidating the Role of Let-7d-5p and OLR1 in the Progression and Prognosis of Oral Squamous Cell Carcinoma via FAK/P53 Signaling Axis., [RefSeq, PubMed]; LOX-1 and MMP-9 Inhibition Attenuates the Detrimental Effects of Delayed rt-PA Therapy and Improves Outcomes After Acute Ischemic Stroke., [RefSeq, PubMed]; Oxidized LDL receptor expressed in vascular endothelial cells Review article, [RefSeq, PubMed]; Receptor that mediates the recognition, internalization and degradation of oxidatively modified low density lipoprotein (oxLDL) by vascular endothelial cells. OxLDL is a marker of atherosclerosis that induces vascular endothelial cell activation and dysfunction, resulting in pro-inflammatory responses, pro-oxidative conditions and apoptosis. Its association with oxLDL induces the activation of NF-kappa-B through an increased production of intracellular reactive oxygen and a variety of pro-atherogenic cellular responses including a reduction of nitric oxide (NO) release, monocyte adhesion and apoptosis. In addition to binding oxLDL, it acts as a receptor for the HSP70 protein involved in antigen cross-presentation to naive T-cells in dendritic cells, thereby participating in cell-mediated antigen cross-presentation. Also involved in inflammatory process, by acting as a leukocyte-adhesion molecule at the vascular interface in endotoxin-induced inflammation. Also acts as a receptor for advanced glycation end (AGE) products, activated platelets, monocytes, apoptotic cells and both Gram-negative and Gram-positive bacteria., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 327, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K7V9;B4DI48;G3V1I4;Q2PP00;Q7Z484", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0030246 carbohydrate binding;GO:0005041 low-density lipoprotein particle receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0035579 specific granule membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0006508 proteolysis;GO:0006954 inflammatory response;GO:0042157 lipoprotein metabolic process;GO:0008015 blood circulation;GO:0007159 leukocyte cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "P78380-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZF2-1", "uniprot_id": "OSBL7_HUMAN", "mass": 95432.0, "length": 842, "protein_name": "Oxysterol-binding protein-related protein 7", "gene_name": "OSBPL7", "organism": "Human", "refseq_name": "oxysterol-binding protein-related protein 7", "refseq_ac": "NP_665741", "gene_names_uniprotkb": "OSBPL7; ORP7", "gene_names_refseq": "ORP7; OSBPL7", "protein_names_uniprotkb": "Oxysterol-binding protein-related protein 7; ORP-7; OSBP-related protein 7", "protein_names_refseq": "ORP-7; OSBP-related protein 7; oxysterol-binding protein-related protein 7", "tax_id": 9606, "disease": "cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:114881); (R-HSA-192105)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11237011;11483621;11802775;14593528;17428193;18452278;19913121;21669198;21763455;23186163;23428468;23830809;24209621;24742681;25418920;25576301;26715851;26992070;28218747;28904123;29242379;29393594;29437277;30379171;31844290;32387766;33981976;35051231;35580925;39894887;9852097", "class_list": "", "function": "In preliminary results, significantly higher levels of OSBP2 and OSBPL-7 mRNA were seen in blood samples from cholangiocarcinoma patients than in healthy controls., [RefSeq, PubMed]; ORP7 negatively regulates GS28 protein stability via sequestration of GATE-16, and may mediate the effect of 25-OH on GS28 and Golgi function., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DTT6;Q6PIV6", "ec_number_list": "", "go_molecular_function": "GO:0015485 cholesterol binding;GO:0120015 sterol transfer activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031965 nuclear membrane;GO:0097038 perinuclear endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0010506 regulation of autophagy;GO:0071397 cellular response to cholesterol;GO:1901800 positive regulation of proteasomal protein catabolic process;GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BZF2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P11464-1", "uniprot_id": "PSG1_HUMAN", "mass": 47223.0, "length": 419, "protein_name": "Pregnancy-specific beta-1-glycoprotein 1", "gene_name": "PSG1", "organism": "Human", "refseq_name": "pregnancy-specific beta-1-glycoprotein 1 isoform 2 precursor", "refseq_ac": "NP_001171754", "gene_names_uniprotkb": "PSG1; B1G1; PSBG1; PSGGA", "gene_names_refseq": "B1G1; CD66f; FL-NCA-1/2; PBG1; PS-beta-C/D; PS-beta-G-1; PSBG-1; PSBG1; PSG1; PSG95; PSGGA; PSGIIA; SP1", "protein_names_uniprotkb": "Pregnancy-specific beta-1-glycoprotein 1; CD66 antigen-like family member F; FL-NCA-1/2; Fetal liver non-specific cross-reactive antigen 1/2; PS-beta-C/D; PS-beta-G-1; PSBG-1; PSG95; Pregnancy-specific beta-1 glycoprotein C/D; Pregnancy-specific glycoprotein 1", "protein_names_refseq": "CD66 antigen-like family member F; fetal liver non-specific cross-reactive antigen 1/2; pregnancy-specific B-1 glycoprotein; pregnancy-specific beta-1 glycoprotein C/D; pregnancy-specific beta-1-glycoprotein 1 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5669); (R-HSA-202733)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;21193412;21659548;23090970;2350345;2377620;23945545;24043627;24190977;24764293;2538457;2541441;2735907;2783133;29242379;3180995;32280962;3257488;3260773;32938616;34855088;35580925;36309385;37887078;38253038;39121996;468991;7509040;7521878;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Effect of Pregnancy Specific beta1-Glycoprotein on the Replicative Potential of Naive T Cells and Immune Memory T Cells., [RefSeq, PubMed]; Glycan characterization of pregnancy-specific glycoprotein 1 and its identification as a novel Galectin-1 ligand., [RefSeq, PubMed]; High Expression of Pregnancy Specific Beta-1-glycoprotein 1 Is Associated With Poor Gastric Cancer Prognosis., [RefSeq, PubMed]; Low pregnancy-specific beta-1-glycoprotein is associated with nondipper hypertension and increased risk of preeclampsia in pregnant women with newly diagnosed chronic hypertension., [RefSeq, PubMed]; Modulation of galectin-9 mediated responses in monocytes and T-cells by pregnancy-specific glycoprotein 1., [RefSeq, PubMed]; The human placenta is a multihormonal endocrine organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific beta-1-glycoprotein (PSBG, PSG) is a major product of the syncytiotrophoblast, reaching concentrations of 100 to 290 mg/l at term in the serum of pregnant women (Horne et al., 1976 [PubMed 971765]). PSG is a member of the immunoglobulin (Ig) superfamily (Watanabe and Chou, 1988 [PubMed 3257488]; Streydio et al., 1988 [PubMed 3260773]).[supplied by OMIM, Oct 2009]., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 57, "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": "O75236;P11462;P11463;Q15231;Q15241;Q15243;Q16660;Q6ICR4;Q9P1W5;Q9UQ79", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007565 female pregnancy", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P11464-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12980-1", "uniprot_id": "NPRL3_HUMAN", "mass": 63605.0, "length": 569, "protein_name": "GATOR1 complex protein NPRL3", "gene_name": "NPRL3", "organism": "Human", "refseq_name": "GATOR1 complex protein NPRL3 isoform 1", "refseq_ac": "NP_001070818", "gene_names_uniprotkb": "NPRL3; C16orf35; CGTHBA; MARE", "gene_names_refseq": "C16orf35; CGTHBA; FFEVF3; HS-40; MARE; NPR3; NPRL3; RMD11", "protein_names_uniprotkb": "GATOR1 complex protein NPRL3; -14 gene protein; Alpha-globin regulatory element-containing gene protein; Nitrogen permease regulator 3-like protein; Protein CGTHBA", "protein_names_refseq": "-14 gene protein; GATOR complex protein NPRL3; GATOR1 complex protein NPRL3 isoform 1; GATOR1 complex protein NPRL3; alpha-globin regulatory element-containing gene protein; conserved gene telomeric to alpha globin cluster", "tax_id": 9606, "disease": "familial focal epilepsy with variable foci 3 (Disease Ontology:DOID:0081423)", "pathway": " (hsa:8131); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "11237011;15854902;15878852;16098514;16728641;17470430;18497260;18604198;19521502;20068231;20112406;20381137;22053050;22575674;22980980;23723238;24081491;24095279;24275569;24715725;25259925;25263562;25457612;25561175;25567906;25819761;26154972;26285051;26449471;26505888;26586190;26972053;26992070;27173016;27308486;27487210;27600516;27648300;27846572;27920218;28063628;28066558;28199306;28199315;28218747;28228285;28649982;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29393594;29437277;29493099;29557506;29590090;29632046;29671580;29769354;29786170;30061680;30181260;30315122;30484775;30524438;30651352;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34211107;34405274;34932366;35051231;35338845;35561310;35580925;35705054;36007018;36010968;36215666;36241641;37099548;37259768;37491868;37902097;7499430;8575760", "class_list": "", "function": "As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review. Review article, [RefSeq, PubMed]; Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review. Review article, [RefSeq, PubMed]; Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery. Review article, [RefSeq, PubMed]; The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant. 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DU40;Q1W6H0;Q4TT56;Q92469", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:1990130 GATOR1 complex;GO:0005764 lysosome", "go_biological_process": "GO:0010508 positive regulation of autophagy;GO:0034198 cellular response to amino acid starvation;GO:1904262 negative regulation of TORC1 signaling;GO:0032007 negative regulation of TOR signaling", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q12980-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08752-1", "uniprot_id": "PPID_HUMAN", "mass": 40764.0, "length": 370, "protein_name": "Peptidyl-prolyl cis-trans isomerase D", "gene_name": "PPID", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase D", "refseq_ac": "NP_005029", "gene_names_uniprotkb": "PPID; CYP40; CYPD", "gene_names_refseq": "CYP-40; CYPD; PPID", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase D; 40 kDa peptidyl-prolyl cis-trans isomerase; 5.2.1.8; CYP-40; Cyclophilin-40; Cyclophilin-related protein; PPIase D; Rotamase D", "protein_names_refseq": "40 kDa peptidyl-prolyl cis-trans isomerase D; PPIase D; cyclophilin 40; cyclophilin D; cyclophilin-related protein; peptidyl-prolyl cis-trans isomerase D; rotamase D; testicular tissue protein Li 147", "tax_id": 9606, "disease": "", "pathway": " (hsa:5481); (R-HSA-8939211)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10207098;10485477;10588810;10822011;11150164;11162936;11237011;11250728;11350175;11478682;11525244;11795466;12118371;12145316;12665801;12672240;12943986;14580201;14605097;15094156;15497503;16650407;16809759;1720327;1730655;17615152;17873880;18451092;18452278;18669648;18708059;19274700;19664994;19690332;19932913;20353944;20379036;20676357;21146485;21711559;22393957;22681779;23186163;23220213;23375374;23403292;23684889;23850489;24071518;24288332;24366607;25303530;25418920;25500870;25576301;25597633;25645385;25880248;26153859;26375851;26610607;27846572;28510447;29493099;29557506;30429286;30779550;31154438;3167974;31844290;31848261;32157095;32265295;32350084;32357974;32502341;32983136;33123756;33214551;33592498;33691108;33912179;33968037;33981976;34019948;34932366;35051231;35251023;35580925;36010968;36241641;36284347;37717465;38412332;38665916;6201744;7689695;7784095;7892243;7906860;7984152;8180109;8221895;8232319;8327492;8509368;8641283;8812478;9048584;9115298;9183567;9295332;9346945;9659917;9707442;9817749", "class_list": "", "function": "(Microbial infection) May be involved in hepatitis C virus (HCV) replication and release., [UniProtKB, PubMed, PubMed]; CyP40 chaperone function then, is localized within the linker that forms a binding cleft with potential to accommodate non-native substrates, [RefSeq, PubMed]; CypD induced ROS output promotes intracranial aneurysm formation and rupture by 8-OHdG/NLRP3/MMP9 pathway., [RefSeq, PubMed]; Elevations in the Mitochondrial Matrix Protein Cyclophilin D Correlate With Reduced Parvalbumin Expression in the Prefrontal Cortex of Patients With Schizophrenia., [RefSeq, PubMed]; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:11350175, PubMed:20676357). Proposed to act as a co-chaperone in HSP90 complexes such as in unligated steroid receptors heterocomplexes. Different co-chaperones seem to compete for association with HSP90 thus establishing distinct HSP90-co-chaperone-receptor complexes with the potential to exert tissue-specific receptor activity control. May have a preference for estrogen receptor complexes and is not found in glucocorticoid receptor complexes. May be involved in cytoplasmic dynein-dependent movement of the receptor from the cytoplasm to the nucleus. May regulate MYB by inhibiting its DNA-binding activity. Involved in regulation of AHR signaling by promoting the formation of the AHR:ARNT dimer; the function is independent of HSP90 but requires the chaperone activity. Involved in regulation of UV radiation-induced apoptosis. Promotes cell viability in anaplastic lymphoma kinase-positive anaplastic large-cell lymphoma (ALK+ ALCL) cell lines., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [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": 10, "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": "B2R9V2", "ec_number_list": "5.2.1.8;3.6.4.10;2.7.11.24;3.1.3.16;5.3.99.3", "go_molecular_function": "GO:0031072 heat shock protein binding;GO:0008134 transcription factor binding;GO:0030331 nuclear estrogen receptor binding;GO:0051879 Hsp90 protein binding;GO:0030544 Hsp70 protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0015031 protein transport;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0050714 positive regulation of protein secretion", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q08752-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4D7-1", "uniprot_id": "PLXD1_HUMAN", "mass": 212007.0, "length": 1925, "protein_name": "Plexin-D1", "gene_name": "PLXND1", "organism": "Human", "refseq_name": "plexin-D1 precursor", "refseq_ac": "NP_055918", "gene_names_uniprotkb": "PLXND1; KIAA0620", "gene_names_refseq": "CHTD9; PLEXD1; PLXND1", "protein_names_uniprotkb": "Plexin-D1", "protein_names_refseq": "plexin-D1 precursor", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); DiGeorge syndrome (Disease Ontology:DOID:11198); transient cerebral ischemia (Disease Ontology:DOID:224); obesity (Disease Ontology:DOID:9970); congenital heart defects, multiple types, 9 (MONDO:MONDO:0859532)", "pathway": " (hsa:23129); (R-HSA-416700); (R-HSA-9013508); (R-HSA-9696270)", "pathway_count": 4, "publication_count": 103, "publication_id_list": "10.1101/2023.09.13.557529;10520995;10648410;10664463;10964718;11114375;11237011;11866432;11940653;12244061;12386158;12412018;12842009;12882840;14732713;15218527;15301830;15550623;15738000;16335952;16481321;16715077;17318185;18974129;18996843;19136556;19159218;20068231;20385769;20811643;22396495;23090970;23301498;24190977;24254849;24690281;24841563;25417103;25576301;25645385;25888806;26969432;26992070;27452731;27749937;27841855;27862975;27920218;28228285;28834231;28904123;29242379;29393594;29557506;29632711;29741879;29786170;30315122;30429286;30524438;30779550;30833945;31154438;31530632;31844290;31848261;31871319;32157095;32161166;32162841;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33392160;33592498;33912179;33968037;34171305;34185709;34357683;34509645;34791216;35051231;35154160;35251023;35396997;35580925;35917012;36010968;36215666;36241641;36284347;37073425;37074911;37217939;37938771;39534244;8955171", "class_list": "", "function": "Association of PLXND1 with a novel subtype of anomalous pulmonary venous return., [RefSeq, PubMed]; Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans., [RefSeq, PubMed]; Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Required for normal development of the heart and vasculature (By similarity). Mediates anti-angiogenic signaling in response to SEMA3E., [UniProtKB, PubMed]; Downregulation of circ_PLXND1 inhibits tumorigenesis of non-small cell lung carcinoma via miR-1287-5p/ERBB3 axis., [RefSeq, PubMed]; PLXND1/SEMA3E Promotes Epithelial-Mesenchymal Transition Partly via the PI3K/AKT-Signaling Pathway and Induces Heterogenity in Colorectal Cancer., [RefSeq, PubMed]; Results of extensive mutational analysis leads to the exclusion of the PLEXIN-D1 gene as the causative gene in Mobius syndrome 2, and in isolated Mobius syndrome., [RefSeq, PubMed]", "predicted_glycosites": 10, "predicted_n_glycosites": 9, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 10, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 11, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 11, "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": 82, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 24, "disease_count": 5, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "A7E2C6;C9JPZ6;Q6PJS9;Q8IZJ2;Q9BTQ2", "ec_number_list": "", "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0017154 semaphorin receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0002116 semaphorin receptor complex;GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0030424 axon", "go_biological_process": "GO:0001525 angiogenesis;GO:0007162 negative regulation of cell adhesion;GO:0071526 semaphorin-plexin signaling pathway;GO:0043524 negative regulation of neuron apoptotic process;GO:0007416 synapse assembly", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q9Y4D7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHH9-1", "uniprot_id": "IP6K2_HUMAN", "mass": 49186.0, "length": 426, "protein_name": "Inositol hexakisphosphate kinase 2", "gene_name": "IP6K2", "organism": "Human", "refseq_name": "inositol hexakisphosphate kinase 2 isoform b", "refseq_ac": "NP_001005910", "gene_names_uniprotkb": "IP6K2; IHPK2; TCCCIA00113", "gene_names_refseq": "IHPK2; IP6K2; InsP6K2; PIUS", "protein_names_uniprotkb": "Inositol hexakisphosphate kinase 2; 2.7.4.-; InsP6 kinase 2; InsP6K2; P(i)-uptake stimulator; PiUS", "protein_names_refseq": "ATP:1D-myo-inositol-hexakisphosphate phosphotransferase; inositol hexakisphosphate kinase 2 isoform b; inositol hexaphosphate kinase 2; insp6 kinase 2; pi uptake stimulator", "tax_id": 9606, "disease": "", "pathway": " (hsa:51447); (R-HSA-1855191); (R-HSA-909733)", "pathway_count": 3, "publication_count": 151, "publication_id_list": "10395669;10542297;10574768;10827188;10982844;11092454;11237011;11337497;11377645;11404376;11502751;11585831;12027805;12029096;12084730;12223481;12766484;12842042;14769151;15047845;15312780;15449939;15778442;16009940;16171819;16293229;16987978;17251292;1730654;17351669;17412958;17702752;17705785;17969444;18035202;18355727;18575461;20130243;20363976;20643137;21262846;2211721;22424782;23061660;23121362;23481700;24417533;24715725;25371710;25418920;25469497;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;30315122;30379171;30429286;30485383;30524438;30624931;30779550;31154438;31844290;31848261;31937595;31998317;32032529;32113509;32157095;32161166;32176627;32265295;32357974;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32862111;32897882;32929655;32938616;33117408;33141586;33189161;33193462;33298915;33392160;33396578;33537174;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38980439;6162102;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9242679;9334213;9660177;9847332;9861020", "class_list": "", "function": "Circ-IP6K2 suppresses tumor progression by modulating the miR-1292-5p/CAMK2N1 signal in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5)., [UniProtKB, PubMed, PubMed]; Inositol hexakisphosphate kinase 2 promotes cell death of anterior horn cells in the spinal cord of patients with amyotrophic lateral sclerosis., [RefSeq, PubMed]; LINC00467 knockdown repressed cell proliferation but stimulated cell apoptosis in glioblastoma via miR-339-3p/IP6K2 axis., [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 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3B1;B4E3G6;G8JLL6;Q6P0N8;Q9BSZ6;Q9BUW3;Q9H4P7;Q9NT63;Q9UFU6", "ec_number_list": "2.7.7.84;2.7.10.2;2.7.11.1;3.4.25.1;3.6.5.-;3.5.4.37;3.1.26.-;4.2.-.-;2.7.4.21;2.7.-.-;3.1.13.1;2.7.4.-;3.1.5.-", "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:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0001650 fibrillar center", "go_biological_process": "GO:0033138 positive regulation of peptidyl-serine phosphorylation;GO:0043065 positive regulation of apoptotic process;GO:0050821 protein stabilization;GO:0030308 negative regulation of cell growth;GO:0071902 positive regulation of protein serine/threonine kinase activity", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q9UHH9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96I99-1", "uniprot_id": "SUCB2_HUMAN", "mass": 46511.0, "length": 432, "protein_name": "Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial", "gene_name": "SUCLG2", "organism": "Human", "refseq_name": "succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial isoform 1 precursor", "refseq_ac": "NP_001171070", "gene_names_uniprotkb": "SUCLG2", "gene_names_refseq": "G-SCS; GBETA; GTPSCS; SUCLG2", "protein_names_uniprotkb": "Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial; 6.2.1.-; 6.2.1.4; G-SCS; GTP-specific succinyl-CoA synthetase subunit beta; GTPSCS; Itaconyl--CoA ligase [GDP-forming] subunit beta; Malyl--CoA ligase [GDP-forming] subunit beta; SCS-betaG; Succinyl-CoA synthetase beta-G chain", "protein_names_refseq": "GTP-specific succinyl-CoA synthetase beta subunit; GTP-specific succinyl-CoA synthetase subunit beta; SCS-betaG; itaconyl--CoA ligase [GDP-forming] subunit beta; malyl--CoA ligase [GDP-forming] subunit beta; succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial isoform 1 precursor; succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial; succinate-CoA ligase GDP-forming beta subunit; succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial; succinyl-CoA ligase, GDP-forming, beta chain, mitochondrial; succinyl-CoA synthetase, beta-G chain", "tax_id": 9606, "disease": "", "pathway": " (hsa:8801); (R-HSA-71403); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "1052766;10673423;10727444;11237011;11278619;11923310;12198491;12207025;13181903;14249115;14555658;14623864;14832224;14946179;15234968;15522782;15652751;15870080;15877282;15987702;16115876;16143825;16737955;16740313;17101804;17182618;17297443;17432878;17579211;17668387;18806796;18914071;1946331;19608861;19841671;2005110;20068231;20435888;20677014;20800603;20847235;20877624;22262461;22710082;23201127;23564345;23747254;23931759;24315374;24520911;25564869;26504172;26923599;27189937;27374498;27452731;27496948;27642048;27920218;28377575;28396416;28510447;28514659;28649982;28832583;28887308;28904123;29301859;29557506;29632046;29932645;30120231;30192525;30761759;30844107;31327635;31695197;31844290;32157095;32938616;32963351;33058874;33257573;33264602;33592498;33968037;34087483;34357683;34704252;34943861;35051231;35366151;35494241;35870450;36139014;36420423;36629048;37938771;38665916;40108300;40914422;7623837;8200987;8616157;9765290;9765291;9792106;9792662;9809442", "class_list": "", "function": "EGFR-upregulated LIFR promotes SUCLG2-dependent castration resistance and neuroendocrine differentiation of prostate cancer., [RefSeq, PubMed]; GTP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of GTP and thus represents the only step of substrate-level phosphorylation in the TCA. The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit. Also able to act as a GTP-specific itaconyl- and malyl-CoA synthetase., [UniProtKB, UniProtKB, UniProtKB, HAMAP, 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]; Succinyl-CoA Ligase Deficiency in Pro-inflammatory and Tissue-Invasive T Cells., [RefSeq, PubMed]; This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "C9JVT2;O95195;Q6NUH7;Q86VX8;Q8WUQ1", "ec_number_list": "2.3.3.1;7.1.1.2;3.6.4.10;1.2.1.3;7.1.2.2;4.2.1.2;1.2.4.1;1.8.1.4;5.6.1.7;2.3.1.37;4.98.1.1;1.1.1.38;2.3.1.9;1.2.1.36;1.7.1.-;1.2.1.28;1.1.1.37;5.3.3.8;1.1.1.42;3.1.2.2;1.1.1.41;6.2.1.-;6.2.1.4;6.2.1.5;6.2.1.9;2.8.3.5;3.5.3.1;1.2.4.2;1.1.1.30;5.3.3.21;2.7.11.2;2.7.11.-;3.4.21.92;1.1.1.35;4.2.1.3;2.3.1.41;1.3.8.5", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0044877 protein-containing complex binding;GO:0019003 GDP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045244 succinate-CoA ligase complex (GDP-forming);GO:0042709 succinate-CoA ligase complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006104 succinyl-CoA metabolic process;GO:0006105 succinate metabolic process;GO:1901289 succinyl-CoA catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q96I99-1", "record_type": "protein" }, { "uniprot_canonical_ac": "E9PJ23-1", "uniprot_id": "NPIB6_HUMAN", "mass": 49162.0, "length": 425, "protein_name": "Nuclear pore complex-interacting protein family member B6", "gene_name": "NPIPB6", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member B6", "refseq_ac": "NP_001269453", "gene_names_uniprotkb": "NPIPB6", "gene_names_refseq": "NPIPB6; NPIPB", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member B6", "protein_names_refseq": "nuclear pore complex-interacting protein B type; nuclear pore complex-interacting protein family member B6", "tax_id": 9606, "disease": "", "pathway": " (hsa:728741)", "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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "E9PJ23-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNW9-1", "uniprot_id": "NOVA2_HUMAN", "mass": 49009.0, "length": 492, "protein_name": "RNA-binding protein Nova-2", "gene_name": "NOVA2", "organism": "Human", "refseq_name": "RNA-binding protein Nova-2", "refseq_ac": "NP_002507", "gene_names_uniprotkb": "NOVA2; ANOVA; NOVA3", "gene_names_refseq": "ANOVA; NEDASB; NOVA-2; NOVA2; NOVA3", "protein_names_uniprotkb": "RNA-binding protein Nova-2; Astrocytic NOVA1-like RNA-binding protein; Neuro-oncological ventral antigen 2", "protein_names_refseq": "RNA-binding protein Nova-2; astrocytic NOVA1-like RNA-binding protein; neuro-oncological ventral antigen 2; neuro-oncological ventral antigen 3", "tax_id": 9606, "disease": "neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (MONDO:MONDO:0030024)", "pathway": " (hsa:4858)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10368286;10676814;10735272;10811881;11237011;25645385;29242379;29557506;30429286;31154438;31844290;31848261;32157095;32197073;32492405;32938616;33592498;33981976;34357683;34725712;35051231;35580925;35927413;36010968;37175811;37534933;37864285;37920146;37938771;9789075", "class_list": "", "function": "Alternative Splicing Changes Promoted by NOVA2 Upregulation in Endothelial Cells and Relevance for Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0004140 promotes lung adenocarcinoma progression by upregulating NOVA2 via sponging miR-330-5p., [RefSeq, PubMed]; Circ_0102231 inactivates the PI3K/AKT signaling pathway by regulating the miR-635/NOVA2 pathway to promote the progression of non-small cell lung cancer., [RefSeq, PubMed]; Functions to regulate alternative splicing in neurons by binding pre-mRNA in a sequence-specific manner to activate exon inclusion or exclusion (PubMed:32197073). It binds specifically to the sequences 5'-YCAY-3' and regulates splicing in only a subset of regulated exons (PubMed:10811881). Binding to an exonic 5'-YCAY-3' cluster changes the protein complexes assembled on pre-mRNA, blocking U1 snRNP binding and exon inclusion, whereas binding to an intronic 5'-YCAY-3' cluster enhances spliceosome assembly and exon inclusion. With NOVA1, they perform unique biological functions in different brain areas and cell types. Uniquely regulates alternative splicing events of a series of axon guidance related genes during cortical development, being essential for central nervous system development by regulating neural networks wiring. Regulates differentially alternative splicing on the same transcripts expressed in different neurons. This includes functional differences in transcripts expressed in cortical and cerebellar excitatory versus inhibitory neurons where is required for, respectively, development of laminar structure and motor coordination and synapse formation. Also the regulation the regulation of intron retention can sequester the trans-acting splicing factor PTBP2, acting as a variable cis-acting scaffolding platform for PTBP2 across various natural conditions (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; METTL14 reverses liver fibrosis by inhibiting NOVA2 through an m6A-YTHDF2-dependent mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; Neuro-oncological Ventral Antigen 2 Regulates Splicing of Vascular Endothelial Growth Factor Receptor 1 and Is Required for Endothelial Function., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O43267;Q9UEA1", "ec_number_list": "", "go_molecular_function": "GO:1990825 sequence-specific mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0051252 regulation of RNA metabolic process;GO:1902667 regulation of axon guidance;GO:0030182 neuron differentiation;GO:0000398 mRNA splicing, via spliceosome;GO:0021954 central nervous system neuron development", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9UNW9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PIL6-1", "uniprot_id": "KCIP4_HUMAN", "mass": 28729.0, "length": 250, "protein_name": "Kv channel-interacting protein 4", "gene_name": "KCNIP4", "organism": "Human", "refseq_name": "Kv channel-interacting protein 4 isoform 5", "refseq_ac": "NP_001030175", "gene_names_uniprotkb": "KCNIP4; CALP; KCHIP4", "gene_names_refseq": "CALP; KCHIP4; KCNIP4", "protein_names_uniprotkb": "Kv channel-interacting protein 4; A-type potassium channel modulatory protein 4; Calsenilin-like protein; KChIP4; Potassium channel-interacting protein 4", "protein_names_refseq": "Kv channel interacting protein 4; Kv channel-interacting protein 4 isoform 5; a-type potassium channel modulatory protein 4; calsenilin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:80333); (R-HSA-5576894)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10676964;10729221;11237011;11423117;11805342;11847232;12829703;14980207;15358149;16112838;16951992;17057713;17187064;17981209;18957440;22057399;23576435;24811166;26169577;27600516", "class_list": "", "function": "Cloning and investigation of interaction with presenilin 2 and voltage-gated potassium channel subunit Kv4, [RefSeq, PubMed]; Mutation of KCNIP4 is associated with renal cell carcinoma., [RefSeq, PubMed]; Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates KCND2 channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner (PubMed:11847232, PubMed:18957440, PubMed:23576435). Modulates KCND3/Kv4.3 currents (PubMed:23576435). Isoform 4 does not increase KCND2 expression at the cell membrane (PubMed:18957440). Isoform 4 retains KCND3 in the endoplasmic reticulum and negatively regulates its expression at the cell membrane., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Results indicate that SNPs in KCNIP4 may modulate ACE inhibitor-induced cough risk., [RefSeq, PubMed]; Subunit counting by single-molecule imaging revealed that the bound number of KChIP4 in each Kv4.2.KChIP4 complex was dependent on the expression level of KChIP4., [RefSeq, PubMed]; The conformational change with metal-bound KChIP4.1 is crucial for its interaction with Kv channel but not for KChIP2.2, and that the Mg2+- and Ca2+-binding properties of KChIP2.2 and KChIP4.1 have different effects on their molecular structure., [RefSeq, PubMed]; This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3YAB8;Q3YAB9;Q3YAC0;Q3YAC1;Q3YAC2;Q4W5G8;Q8NEU0;Q9BWT2;Q9H294;Q9H2A4", "ec_number_list": "", "go_molecular_function": "GO:0015459 potassium channel regulator activity;GO:0005509 calcium ion binding;GO:0005267 potassium channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1901379 regulation of potassium ion transmembrane transport;GO:0072659 protein localization to plasma membrane;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q6PIL6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NPB1-1", "uniprot_id": "NT5M_HUMAN", "mass": 25862.0, "length": 228, "protein_name": "5'(3')-deoxyribonucleotidase, mitochondrial", "gene_name": "NT5M", "organism": "Human", "refseq_name": "5'(3')-deoxyribonucleotidase, mitochondrial isoform 4 precursor", "refseq_ac": "NP_064586", "gene_names_uniprotkb": "NT5M; DNT2", "gene_names_refseq": "NT5M; dNT-2; dNT2; mdN", "protein_names_uniprotkb": "5'(3')-deoxyribonucleotidase, mitochondrial; 3.1.3.-; 5',3'-nucleotidase, mitochondrial; Deoxy-5'-nucleotidase 2; dNT-2", "protein_names_refseq": "5' nucleotidase, mitochondrial; 5'(3')-deoxyribonucleotidase, mitochondrial isoform 4 precursor; 5'(3')-deoxyribonucleotidase, mitochondrial; 5(3)-deoxyribonucleotidase; deoxy-5'-nucleotidase 2; mitochondrial 5' nucleotidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:56953); (R-HSA-73621)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10364222;10681516;10899995;10989446;11083867;11133996;11237011;12124385;12352955;12849978;12947102;14725767;15044615;15385443;1590793;16004879;16377327;19291308;20018850;20877624;2129526;2157703;2344353;24506201;2826576;28904123;31844290;7284378;7488099;8083224;9718352", "class_list": "glycogene", "function": "An alternative splice variant of the mdN gene containing an 18-nucleotide insertion encoding 6 amino acids (GKWPAT) at the 3'-end of the penultimate exon 4 has been characterized., [RefSeq, PubMed]; Dephosphorylates preferentially the 5'- and 2'(3')-phosphates of uracil and thymine (deoxy)ribonucleotide monophosphates (PubMed:10899995, PubMed:16004879). Shows low activity toward dGMP and marginal activity toward dIMP (PubMed:10899995, PubMed:16004879)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Overproduction in cultured cells and functional aspects, [RefSeq, PubMed]; Structures of dNT-2 in complex with bound phosphate and beryllium trifluoride plus thymidine as model for a phosphoenzyme-product complex, [RefSeq, PubMed]; Substrate specificity analysis of the human mitochondrial deoxyribonucleotidase, [RefSeq, PubMed]; This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 287, "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": "3.1.3.5;3.1.3.91;3.1.3.89;3.1.3.99;3.1.3.35;2.7.1.77;3.1.3.-", "go_molecular_function": "GO:0008254 3'-nucleotidase activity;GO:0008252 nucleotidase activity;GO:0046872 metal ion binding;GO:0000166 nucleotide binding;GO:0008253 5'-nucleotidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0046079 dUMP catabolic process;GO:0009223 pyrimidine deoxyribonucleotide catabolic process;GO:0006260 DNA replication;GO:0046038 GMP catabolic process;GO:0046050 UMP catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9NPB1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2H3-1", "uniprot_id": "IFT80_HUMAN", "mass": 88035.0, "length": 777, "protein_name": "Intraflagellar transport protein 80 homolog", "gene_name": "IFT80", "organism": "Human", "refseq_name": "intraflagellar transport protein 80 homolog isoform b", "refseq_ac": "NP_001177170", "gene_names_uniprotkb": "IFT80; KIAA1374; WDR56", "gene_names_refseq": "ATD2; CFAP167; FAP167; IFT80; SRTD2; WDR56", "protein_names_uniprotkb": "Intraflagellar transport protein 80 homolog; WD repeat-containing protein 56", "protein_names_refseq": "WD repeat domain 56; WD repeat-containing protein 56; intraflagellar transport 80 homolog; intraflagellar transport protein 80 homolog isoform b", "tax_id": 9606, "disease": "asphyxiating thoracic dystrophy (Disease Ontology:DOID:0050592); ciliopathy (Disease Ontology:DOID:0060340); asphyxiating thoracic dystrophy 2 (Disease Ontology:DOID:0110086); asphyxiating thoracic dystrophy 3 (Disease Ontology:DOID:0110087)", "pathway": " (hsa:57560); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "10069812;11237011;11285270;12795688;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17312020;17314406;17468754;17574030;18180368;18304522;18364699;18369462;18601909;18852297;19112494;19147001;19253336;19384852;19450523;19720863;19805633;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22544926;22922713;22992454;23945166;23990561;24140113;24296415;24596149;24616010;24715725;25205765;25349261;25418920;25443296;25576301;25892735;26992070;27397612;27846572;27920218;28218747;28649982;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30453504;30767363;31154438;31222486;31844290;31848261;32157095;32161166;32387766;32938616;33141586;33392160;33592498;33912179;33968037;34171305;34211107;35051231;35580925;36010968;36241641;37938771;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia., [UniProtKB, PubMed]; IFT80 plays an important role in invasion of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and characterization of a human IFT80 long isoform (namely IFT80-L), the carboxyl terminus of which shares the protein sequence of IFT80, is reported., [RefSeq, PubMed]; Mutations in IFT80 cause Short rib-polydactyly syndrome, Beemer type., [RefSeq, PubMed]; Mutations in IFT80 is associated with Jeune asphyxiating thoracic dystrophy, [RefSeq, PubMed]; The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "B4E0K1;C9J8I0;Q3MJC4;Q86YF4;Q9UIX1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005929 cilium;GO:0005930 axoneme;GO:0036064 ciliary basal body;GO:0030991 intraciliary transport particle A", "go_biological_process": "GO:0060271 cilium assembly;GO:0035720 intraciliary anterograde transport", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q9P2H3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HA65-1", "uniprot_id": "TBC17_HUMAN", "mass": 72670.0, "length": 648, "protein_name": "TBC1 domain family member 17", "gene_name": "TBC1D17", "organism": "Human", "refseq_name": "TBC1 domain family member 17 isoform 2", "refseq_ac": "NP_001161694", "gene_names_uniprotkb": "TBC1D17", "gene_names_refseq": "TBC1D17", "protein_names_uniprotkb": "TBC1 domain family member 17", "protein_names_refseq": "TBC1 domain family member 17 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79735); (R-HSA-8854214)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10202141;11237011;16055087;16395330;17658474;17901050;18199687;18319245;18466115;19077034;20095038;20116244;20363736;20404108;21383079;21458671;22219378;22544926;22613832;22762500;22795129;22854040;23019362;23481700;23562278;24275569;24569479;24752605;25418920;25576301;26768311;27920218;28228285;28832583;29242379;29393594;29508533;29632046;29632711;29769354;31154438;31530632;31848261;31937595;34045668", "class_list": "", "function": "AMPK-mediated phosphorylation enhances the auto-inhibition of TBC1D17 to promote Rab5-dependent glucose uptake., [RefSeq, PubMed]; Demonstrate that TBC1D15 and TBC1D17 mediate proper autophagic encapsulation of mitochondria by regulating Rab7 activity at the interface between mitochondria and isolation membranes. Publication Status: Online-Only, [RefSeq, PubMed]; Optineurin acts as an adaptor to bring together Rab8 and its GTPase-activating protein TBC1D17., [RefSeq, PubMed]; Probable RAB GTPase-activating protein that inhibits RAB8A/B function. Reduces Rab8 recruitment to tubules emanating from the endocytic recycling compartment (ERC) and inhibits Rab8-mediated endocytic trafficking, such as that of transferrin receptor (TfR) (PubMed:22854040). Involved in regulation of autophagy., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "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": "B4DT12;B9A6L8;F5H1W7", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0055037 recycling endosome;GO:0005776 autophagosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0015031 protein transport;GO:0006914 autophagy;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9HA65-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05013-1", "uniprot_id": "IFNA6_HUMAN", "mass": 22141.0, "length": 189, "protein_name": "Interferon alpha-6", "gene_name": "IFNA6", "organism": "Human", "refseq_name": "interferon alpha-6 precursor", "refseq_ac": "NP_066282", "gene_names_uniprotkb": "IFNA6", "gene_names_refseq": "IFN-alphaK; IFNA6", "protein_names_uniprotkb": "Interferon alpha-6; IFN-alpha-6; Interferon alpha-54; Interferon alpha-K; LeIF K", "protein_names_refseq": "IFN-alpha-6; interferon alpha-54; interferon alpha-6 precursor; interferon alpha-K; leIF K", "tax_id": 9606, "disease": "anogenital venereal wart (Disease Ontology:DOID:11168)", "pathway": " (hsa:3443); (R-HSA-909733); (R-HSA-912694); (R-HSA-933541); (R-HSA-9705671); (R-HSA-983231); (R-HSA-9833109)", "pathway_count": 7, "publication_count": 188, "publication_id_list": "10022928;10395669;10421793;10542297;10581243;10982844;11042108;11062261;11073981;11092454;11237011;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;15340161;15361868;15449939;15710388;15778442;16009940;16054028;16125763;16127453;16153868;16171819;1630448;16710296;16914100;16987978;17027967;17196961;17251292;1730654;17327220;17351669;17392790;17969444;18035202;18508557;18575461;19193793;19293402;19479062;19668221;20043992;20130243;20363976;20503287;20530532;20574843;20588308;20627800;20643137;21632562;218813;2211721;22383950;22619329;22941947;23061660;23121362;23453971;24417533;24722368;25371710;26845023;30485383;30558248;31850239;32032529;32113509;32353859;32428392;32511913;32574262;32589897;32661006;32726803;32728199;32758689;32862111;32953130;32979938;33024073;33060197;33091337;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;4057246;6162102;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8662638;8668211;8702790;8816476;8943354;9065479;9096384;9121453;9230307;9242679;9326583;9331217;9334213;9422515;9660177;9660935;9822609;9847332;9861020;9927674", "class_list": "", "function": "Alpha interferon suppresses the cyclin D3 and cdc25A genes, leading to a reversible G0-like arrest., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase., [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": "Q5VYQ1", "ec_number_list": "", "go_molecular_function": "GO:0005125 cytokine activity;GO:0005132 type I interferon receptor binding;GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002312 B cell activation involved in immune response;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0002250 adaptive immune response;GO:0043330 response to exogenous dsRNA", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P05013-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P05231-1", "uniprot_id": "IL6_HUMAN", "mass": 23718.0, "length": 212, "protein_name": "Interleukin-6", "gene_name": "IL6", "organism": "Human", "refseq_name": "interleukin-6 isoform 1 precursor", "refseq_ac": "NP_000591", "gene_names_uniprotkb": "IL6; IFNB2", "gene_names_refseq": "BSF-2; BSF2; CDF; HGF; HSF; IFN-beta-2; IFNB2; IL-6; IL6", "protein_names_uniprotkb": "Interleukin-6; B-cell stimulatory factor 2; BSF-2; CDF; CTL differentiation factor; Hybridoma growth factor; IFN-beta-2; IL-6; Interferon beta-2", "protein_names_refseq": "B-cell differentiation factor; B-cell stimulatory factor 2; CTL differentiation factor; hybridoma growth factor; interferon beta-2; interleukin BSF-2; interleukin-6 isoform 1 precursor", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); biliary tract benign neoplasm (Disease Ontology:DOID:0050625); small cell carcinoma (Disease Ontology:DOID:0050685); chorioamnionitis (Disease Ontology:DOID:0050697); obstructive sleep apnea (Disease Ontology:DOID:0050848); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); stroke (Disease Ontology:DOID:0051061); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); lymphoplasmacytic lymphoma (Disease Ontology:DOID:0060901); alcohol-associated liver disease (Disease Ontology:DOID:0070658); colorectal carcinoma (Disease Ontology:DOID:0080199); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); aortic valve disease 1 (Disease Ontology:DOID:0080333); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); COVID-19 (Disease Ontology:DOID:0080600); transverse myelitis (Disease Ontology:DOID:0080743); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); dry eye syndrome (Disease Ontology:DOID:10140); stomach cancer (Disease Ontology:DOID:10534); pre-eclampsia (Disease Ontology:DOID:10591); celiac disease (Disease Ontology:DOID:10608); Alzheimer's disease (Disease Ontology:DOID:10652); renal hypertension (Disease Ontology:DOID:1073); otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); intracranial aneurysm (Disease Ontology:DOID:10941); cholesteatoma of middle ear (Disease Ontology:DOID:10964); anogenital venereal wart (Disease Ontology:DOID:11168); spondyloarthropathy (Disease Ontology:DOID:1123); disseminated intravascular coagulation (Disease Ontology:DOID:11247); sciatic neuropathy (Disease Ontology:DOID:11446); gestational diabetes (Disease Ontology:DOID:11714); prediabetes syndrome (Disease Ontology:DOID:11716); iron deficiency anemia (Disease Ontology:DOID:11758); primary biliary cholangitis (Disease Ontology:DOID:12236); beta thalassemia (Disease Ontology:DOID:12241); alcoholic hepatitis (Disease Ontology:DOID:12351); Graves' disease (Disease Ontology:DOID:12361); ataxia telangiectasia (Disease Ontology:DOID:12704); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); quadriplegia (Disease Ontology:DOID:12835); autistic disorder (Disease Ontology:DOID:12849); Huntington's disease (Disease Ontology:DOID:12858); Sjogren's syndrome (Disease Ontology:DOID:12894); keratoconjunctivitis sicca (Disease Ontology:DOID:12895); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); eclampsia (Disease Ontology:DOID:13593); polyneuropathy (Disease Ontology:DOID:1389); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); major depressive disorder (Disease Ontology:DOID:1470); aggressive periodontitis (Disease Ontology:DOID:1474); cystic fibrosis (Disease Ontology:DOID:1485); alcohol use disorder (Disease Ontology:DOID:1574); diffuse scleroderma (Disease Ontology:DOID:1580); thrombocytopenia (Disease Ontology:DOID:1588); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); neovascular glaucoma (Disease Ontology:DOID:1687); retinal vein occlusion (Disease Ontology:DOID:1727); pancreatic cancer (Disease Ontology:DOID:1793); epilepsy (Disease Ontology:DOID:1826); impotence (Disease Ontology:DOID:1875); hepatitis C (Disease Ontology:DOID:1883); hypogonadism (Disease Ontology:DOID:1924); rectum cancer (Disease Ontology:DOID:1993); hyperinsulinism (Disease Ontology:DOID:2018); hepatitis B (Disease Ontology:DOID:2043); multiple sclerosis (Disease Ontology:DOID:2377); idiopathic interstitial pneumonia (Disease Ontology:DOID:2797); asthma (Disease Ontology:DOID:2841); glucosephosphate dehydrogenase deficiency (Disease Ontology:DOID:2862); severe acute respiratory syndrome (Disease Ontology:DOID:2945); pulmonary tuberculosis (Disease Ontology:DOID:2957); familial Mediterranean fever (Disease Ontology:DOID:2987); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gingivitis (Disease Ontology:DOID:3087); spinal cord disease (Disease Ontology:DOID:319); central nervous system disease (Disease Ontology:DOID:331); periodontal disease (Disease Ontology:DOID:3388); coronary artery disease (Disease Ontology:DOID:3393); peripheral vascular disease (Disease Ontology:DOID:341); middle cerebral artery infarction (Disease Ontology:DOID:3525); gastric adenocarcinoma (Disease Ontology:DOID:3717); systemic scleroderma (Disease Ontology:DOID:418); hyperglycemia (Disease Ontology:DOID:4195); conjunctival disease (Disease Ontology:DOID:4251); macular retinal edema (Disease Ontology:DOID:4449); keratitis (Disease Ontology:DOID:4677); cholangiocarcinoma (Disease Ontology:DOID:4947); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); retinal detachment (Disease Ontology:DOID:5327); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425); cochlear disease (Disease Ontology:DOID:5463); pneumonia (Disease Ontology:DOID:552); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); amphetamine abuse (Disease Ontology:DOID:670); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); hepatocellular carcinoma (Disease Ontology:DOID:684); ankylosing spondylitis (Disease Ontology:DOID:7147); periodontitis (Disease Ontology:DOID:824); peritonitis (Disease Ontology:DOID:8283); corneal ulcer (Disease Ontology:DOID:8463); retinal artery occlusion (Disease Ontology:DOID:8483); lung disease (Disease Ontology:DOID:850); Hodgkin's lymphoma (Disease Ontology:DOID:8567); Kaposi's sarcoma (Disease Ontology:DOID:8632); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); alcoholic gastritis (Disease Ontology:DOID:8680); Crohn's disease (Disease Ontology:DOID:8778); neuromyelitis optica (Disease Ontology:DOID:8869); diabetic retinopathy (Disease Ontology:DOID:8947); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); epididymitis (Disease Ontology:DOID:9402); acute myocardial infarction (Disease Ontology:DOID:9408); allergic asthma (Disease Ontology:DOID:9415); steatotic liver disease (Disease Ontology:DOID:9452); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976); Kaposi sarcoma, susceptibility to (MONDO:MONDO:0007845)", "pathway": " (hsa:3569); (R-HSA-1059683); (R-HSA-110056); (R-HSA-112411); (R-HSA-2559582); (R-HSA-381426); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-8853884); (R-HSA-8957275); (R-HSA-9660821); (R-HSA-9662834); (R-HSA-9958825)", "pathway_count": 13, "publication_count": 365, "publication_id_list": "10023775;10026136;10066432;10077652;10092818;10201372;10218588;10219247;10318916;10369418;10415057;10432220;10433356;10496952;10497257;10510379;10512690;10548110;10586089;10601018;10614670;10648003;10681634;10777583;10810289;10851062;10867011;10898936;10912521;10914713;10951195;10975989;10990447;11001912;11058569;11067924;11080265;11084045;11104795;11114305;11120780;11121117;11158056;11237011;11250653;11264294;11278437;11278729;11316783;11340163;11355017;11356008;11404481;11463377;11522292;11606061;11688984;11739083;11751371;11788658;11960372;12036966;12058067;12106601;12223527;12241545;12242343;12379487;12466191;12483717;12554859;12586835;12600988;12621058;12626585;12755693;12768442;12794819;12810533;12829785;12832402;12832467;12860470;12904166;1291290;1325798;1370451;1383255;1460289;14623079;14634100;14679213;14712222;14970177;15116091;15124018;15126567;15261459;15308688;15469690;15479433;15485880;15525596;15584925;15642270;15774718;15805299;15869882;15919823;15950906;16007214;16048438;1610348;16107692;16205632;16236134;16397018;16451196;16510571;16540365;16606674;16626623;16868551;16982608;17047378;17075861;17249697;17312271;17427945;17458857;17572495;17985932;18243101;18267069;18353781;18411265;18447642;18519587;18555777;18555778;18577758;18644974;1883960;19124156;19185846;19219045;19397496;1940369;1940799;19690161;19805069;20028861;20145033;20188673;20351173;2037043;20452968;20493732;20807704;20823453;21102457;21252155;21325273;21670496;21689689;21730069;2183031;21937440;21979375;21994466;22036506;22037645;22046235;22117219;22178396;22205702;22246777;22246778;22383755;2261637;22634325;22693070;22851691;23086340;23124025;23172665;23455323;23555662;23846687;23967200;2405250;24097101;24273487;24275664;24338472;24706756;2472117;24743777;2476804;2479552;25234944;2553705;25731159;25795784;26091039;2610854;2788034;2789513;28317937;28791816;28848164;29045841;3023045;30304975;30995492;3127824;31772933;32161940;32181911;32234467;32259560;32286245;32306778;32344321;32369209;32385523;32425269;32428990;32430456;32438331;32442528;32475810;32479790;32503382;32503877;32505227;32511562;32576222;3266463;32677844;3279116;32938616;32983136;3320204;33303843;33314148;33349241;34215617;3491322;3491991;3500852;35051231;3538015;3758081;39251588;39304297;39390606;39428452;39451175;7510216;7512027;7512451;7516408;7519608;7523391;7525263;7525634;7525824;7527330;7529288;7538844;7543116;7543512;7588299;7593617;7594602;7683646;7684412;7687627;7689487;7701321;7795521;7796300;7812050;7851440;7871433;7898939;7902377;7907877;8007951;8063757;8085155;8102388;8120391;8131746;8134389;8140422;8163946;8186324;8234276;8272873;8301137;8384717;8388392;8413215;8413306;8522976;8527267;8537680;8555185;8602263;8617720;8621622;8626374;8662591;8662795;8662928;8663118;8668165;8688489;8734788;8742066;8781553;8797861;8816495;8817670;8871669;8884985;8894645;8897595;8910398;8921438;8921966;8939459;8946277;8964575;9013879;9013939;9118960;9159484;9285712;9312047;9354687;9382798;9449724;9497324;9520379;9523318;9550426;9630226;9651336;9651359;9709957;9723655;9733769;9736340;9769329;9786878;9794440;9794795;9822675;9836587;9874564;9918218;9922210", "class_list": "glycogene", "function": "Acts as an essential factor in bone homeostasis and on vessels directly or indirectly by induction of VEGF, resulting in increased angiogenesis activity and vascular permeability (PubMed:12794819, PubMed:17075861). Induces, through 'trans-signaling' and synergistically with IL1B and TNF, the production of VEGF (PubMed:12794819). Involved in metabolic controls, is discharged into the bloodstream after muscle contraction increasing lipolysis and improving insulin resistance (PubMed:20823453). 'Trans-signaling' in central nervous system also regulates energy and glucose homeostasis (By similarity). Mediates, through GLP-1, crosstalk between insulin-sensitive tissues, intestinal L cells and pancreatic islets to adapt to changes in insulin demand (By similarity). Also acts as a myokine (Probable). Plays a protective role during liver injury, being required for maintenance of tissue regeneration (By similarity). Also has a pivotal role in iron metabolism by regulating HAMP/hepcidin expression upon inflammation or bacterial infection (PubMed:15124018). Through activation of IL6ST-YAP-NOTCH pathway, induces inflammation-induced epithelial regeneration (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Association of IL-6 G-174C (rs1800795) variant with the susceptibility to hepatocellular carcinoma in patients with chronic hepatitis. Publication Status: Online-Only, [RefSeq, PubMed]; Astrocytic DLL4-NOTCH1 signaling pathway promotes neuroinflammation via the IL-6-STAT3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Characterisation of IGF-1 (rs7136446) and IL-6 (rs1800795) polymorphisms among breast cancer patients in western Algeria., [RefSeq, PubMed]; Cytokine with a wide variety of biological functions in immunity, tissue regeneration, and metabolism. Binds to IL6R, then the complex associates to the signaling subunit IL6ST/gp130 to trigger the intracellular IL6-signaling pathway (Probable). The interaction with the membrane-bound IL6R and IL6ST stimulates 'classic signaling', whereas the binding of IL6 and soluble IL6R to IL6ST stimulates 'trans-signaling'. Alternatively, 'cluster signaling' occurs when membrane-bound IL6:IL6R complexes on transmitter cells activate IL6ST receptors on neighboring receiver cells (Probable)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; IL6 is a potent inducer of the acute phase response. Rapid production of IL6 contributes to host defense during infection and tissue injury, but excessive IL6 synthesis is involved in disease pathology. In the innate immune response, is synthesized by myeloid cells, such as macrophages and dendritic cells, upon recognition of pathogens through toll-like receptors (TLRs) at the site of infection or tissue injury (Probable). In the adaptive immune response, is required for the differentiation of B cells into immunoglobulin-secreting cells. Plays a major role in the differentiation of CD4(+) T cell subsets. Essential factor for the development of T follicular helper (Tfh) cells that are required for the induction of germinal-center formation. Required to drive naive CD4(+) T cells to the Th17 lineage. Also required for proliferation of myeloma cells and the survival of plasmablast cells (By similarity)., [UniProtKB, UniProtKB, PubMed]; Interleukin 6 plasma levels are associated with progression of coronary plaques. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Elevated levels of the encoded protein have been found in virus infections, including COVID-19 (disease caused by SARS-CoV-2). [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": 2, "mined_n_glycosites": 2, "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": 2, "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": 305, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic; risk; predictive; diagnostic", "glycan_count": 0, "disease_count": 130, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9UCU2;Q9UCU3;Q9UCU4", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity;GO:0005138 interleukin-6 receptor binding", "go_cellular_component": "GO:0005896 interleukin-6 receptor complex;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0001960 negative regulation of cytokine-mediated signaling pathway;GO:0002384 hepatic immune response;GO:0070091 glucagon secretion;GO:0072574 hepatocyte proliferation;GO:0070345 negative regulation of fat cell proliferation", "synthesized_glycan_count": 0, "hit_score": 36.7, "record_id": "P05231-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15743-1", "uniprot_id": "GPR68_HUMAN", "mass": 41077.0, "length": 365, "protein_name": "G protein-coupled receptor 68", "gene_name": "GPR68", "organism": "Human", "refseq_name": "G-protein coupled receptor 68", "refseq_ac": "NP_001171147", "gene_names_uniprotkb": "GPR68; OGR1", "gene_names_refseq": "AI2A6; GPR12A; GPR68; OGR1", "protein_names_uniprotkb": "G protein-coupled receptor 68; G protein-coupled receptor 12A; GPR12A; OGR-1; Ovarian cancer G protein-coupled receptor 1", "protein_names_refseq": "G-protein coupled receptor 12A; G-protein coupled receptor 68; ovarian cancer G protein-coupled receptor, 1; sphingosylphosphorylcholine receptor", "tax_id": 9606, "disease": "amelogenesis imperfecta type 2A6 (Disease Ontology:DOID:0080960)", "pathway": " (hsa:8111); (R-HSA-373076); (R-HSA-416476)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10191087;10567430;10727532;10806476;10861009;11015615;11237011;11742120;11753430;12120503;12522134;12524422;12955148;14617636;15141213;15280385;15326175;15929991;15951850;16182515;16268778;16339447;16540462;1656963;16754659;16754668;16844083;16923326;17139494;17339491;17462861;17876302;18434541;18515384;18577758;18588883;18936096;1905813;21248752;21796212;2263478;25892735;26550826;27693231;2841328;29242379;29677517;30471999;3086311;31298539;31844290;31848261;32279993;32865988;32938616;33392160;33478938;33968037;35051231;35580925;36284347;38627262;38761453;39753132;39900965;40215959;40215960;7498459;7498464;7568007;7689702;7775459;7937899;7946354;8661159;8664309;9305846;9770463", "class_list": "", "function": "A novel mutation in GPR68 causes hypomaturation amelogenesis imperfecta., [RefSeq, PubMed]; Functional expression of the proton sensors ASIC1a, TMEM206, and OGR1 together with BKCa channels is associated with cell volume changes and cell death under strongly acidic conditions in DAOY medulloblastoma cells., [RefSeq, PubMed]; Ovarian cancer G-protein-coupled receptor 1 (OGR1), previously described as a receptor for sphingosylphosphorylcholine, acts as a proton-sensing receptor stimulating inositol phosphate formation, [RefSeq, PubMed]; Proton-sensing G protein-coupled receptor activated by extracellular pH, which is required to monitor pH changes and generate adaptive reactions (PubMed:12955148, PubMed:29677517, PubMed:32865988, PubMed:33478938, PubMed:39753132, PubMed:40215959, PubMed:40215960). The receptor is almost silent at pH 7.8 but fully activated at pH 6.8 (PubMed:12955148, PubMed:39753132). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as phospholipase C (PubMed:29677517, PubMed:39753132). GPR68 is mainly coupled to G(q) G proteins and mediates production of diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) (PubMed:29677517, PubMed:39753132). Acts as a key mechanosensor of fluid shear stress and membrane stretch (PubMed:29677517, PubMed:30471999). Expressed in endothelial cells of small-diameter resistance arteries, where it mediates flow-induced dilation in response to shear stress (PubMed:29677517). May represents an osteoblastic pH sensor regulating cell-mediated responses to acidosis in bone (By similarity). Acts as a regulator of calcium-sensing receptor CASR in a seesaw manner: GPR68-mediated signaling inhibits CASR signaling in response to protons, while CASR inhibits GPR68 in presence of extracellular calcium (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a G protein-coupled receptor for sphingosylphosphorylcholine. The encoded protein is a proton-sensing receptor, inactive at pH 7.8 but active at pH 6.8. Mutations in this gene are a cause of amelogenesis imperfecta. [provided by RefSeq, Feb 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 30, "reported_glycation": 0, "reported_snv": 15, "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": "Q13334;Q4VBB4;Q6IX34", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0034405 response to fluid shear stress", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q15743-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96KW2-1", "uniprot_id": "P12L2_HUMAN", "mass": 109912.0, "length": 1035, "protein_name": "POM121-like protein 2", "gene_name": "POM121L2", "organism": "Human", "refseq_name": "POM121-like protein 2", "refseq_ac": "NP_258443", "gene_names_uniprotkb": "POM121L2; POM121L", "gene_names_refseq": "POM121-L; POM121L2; POM121L", "protein_names_uniprotkb": "POM121-like protein 2", "protein_names_refseq": "OM121 membrane glycoprotein (rat homolog)-like 2; POM121 membrane glycoprotein (rat homolog)-like 2; POM121 membrane glycoprotein-like 2; POM121-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:94026)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;19571809;28411811;29557506;30379171;34357683;35051231;38253038", "class_list": "", "function": "Observational study, meta-analysis, and genome-wide association 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "C9J1I7", "ec_number_list": "", "go_molecular_function": "GO:0017056 structural constituent of nuclear pore;GO:0008139 nuclear localization sequence binding", "go_cellular_component": "GO:0005643 nuclear pore", "go_biological_process": "GO:0006405 RNA export from nucleus;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96KW2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29218-1", "uniprot_id": "IMPA1_HUMAN", "mass": 30189.0, "length": 277, "protein_name": "Inositol monophosphatase 1", "gene_name": "IMPA1", "organism": "Human", "refseq_name": "inositol monophosphatase 1 isoform 3", "refseq_ac": "NP_001138351", "gene_names_uniprotkb": "IMPA1; IMPA", "gene_names_refseq": "IMPA1; IMPA; IMP; MRT59", "protein_names_uniprotkb": "Inositol monophosphatase 1; 3.1.3.25; 3.1.3.94; D-galactose 1-phosphate phosphatase; IMP 1; IMPase 1; Inositol-1(or 4)-monophosphatase 1; Lithium-sensitive myo-inositol monophosphatase A1", "protein_names_refseq": "D-galactose 1-phosphate phosphatase; IMP 1; IMPase 1; inositol monophosphatase 1 isoform 3; inositol(myo)-1(or 4)-monophosphatase 1; inositol-1(or 4)-monophosphatase 1; lithium-sensitive myo-inositol monophosphatase A1; myo-inositol monophosphatase 1; testicular tissue protein Li 94", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 59 (Disease Ontology:DOID:0081221); intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:3612); (R-HSA-1855183)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10593988;11237011;12890864;1332026;1377913;15024000;15474001;15504367;17068342;1718960;18364358;18669648;23027737;23186163;23481700;24715725;26154972;26416544;27846572;27862975;27920218;28467828;28510447;28832583;28904123;29242379;30315122;30484775;30573663;30833945;31154438;31844290;32157095;32161166;32350084;32387766;32502341;32839513;33141586;33592498;33936100;33968037;34171305;34211107;34725712;35051231;35796646;36241641;38665916;7608176;7721860;7761412;8006039;8068620;8068621;8390685;8718889;9295334;9339367;9430698;9462881", "class_list": "", "function": "Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis., [RefSeq, PubMed]; Inositol monophosphatase 1 (IMPA1) promotes triple-negative breast cancer progression through regulating mTOR pathway and EMT process., [RefSeq, PubMed]; Phosphatase involved in the dephosphorylation of myo-inositol monophosphates to generate myo-inositol (PubMed:17068342, PubMed:8718889, PubMed:9462881). Is also able to dephosphorylate scyllo-inositol-phosphate, myo-inositol 1,4-diphosphate, scyllo-inositol-1,3-diphosphate and scyllo-inositol-1,4-diphosphate (PubMed:17068342). Also dephosphorylates in vitro other sugar-phosphates including D-galactose-1-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate and 2'-AMP (PubMed:17068342, PubMed:8718889, PubMed:9462881). Responsible for the provision of inositol required for synthesis of phosphatidylinositols and polyphosphoinositides, and involved in maintaining normal brain function (PubMed:26416544, PubMed:8718889). Has been implicated as the pharmacological target for lithium (Li(+)) action in brain, which is used to treat bipolar affective disorder (PubMed:17068342). Is equally active with 1D-myo-inositol 1-phosphate, 1D-myo-inositol 3-phosphate and D-galactose 1-phosphate (PubMed:9462881)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 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": "B2R733;B4DLN3;B7Z6Q4;J3KQT7;Q9UK71", "ec_number_list": "3.1.3.25;3.1.3.94;3.1.3.9;3.1.3.-;2.1.1.-", "go_molecular_function": "GO:0031403 lithium ion binding;GO:0052834 inositol monophosphate phosphatase activity;GO:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006020 inositol metabolic process;GO:0007165 signal transduction;GO:0006796 phosphate-containing compound metabolic process;GO:0006661 phosphatidylinositol biosynthetic process;GO:0006021 inositol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P29218-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29460-1", "uniprot_id": "IL12B_HUMAN", "mass": 37169.0, "length": 328, "protein_name": "Interleukin-12 subunit beta", "gene_name": "IL12B", "organism": "Human", "refseq_name": "interleukin-12 subunit beta precursor", "refseq_ac": "NP_002178", "gene_names_uniprotkb": "IL12B; NKSF2", "gene_names_refseq": "CLMF2; CLMF; IL-12B; IL12B; IMD28; IMD29; NKSF2; NKSF", "protein_names_uniprotkb": "Interleukin-12 subunit beta; CLMF p40; Cytotoxic lymphocyte maturation factor 40 kDa subunit; IL-12 subunit p40; IL-12B; NK cell stimulatory factor chain 2; NKSF2", "protein_names_refseq": "CLMF p40; IL-12 subunit p40; IL12, subunit p40; NK cell stimulatory factor chain 2; cytotoxic lymphocyte maturation factor 40 kDa subunit; interleukin 12, p40; interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40); interleukin-12 beta chain; interleukin-12 subunit beta precursor; interleukin-12 subunit beta; natural killer cell stimulatory factor, 40 kD subunit", "tax_id": 9606, "disease": "salmonellosis (Disease Ontology:DOID:0060859); psoriasis 11 (Disease Ontology:DOID:0111285); immunodeficiency 29 (Disease Ontology:DOID:0111950); anogenital venereal wart (Disease Ontology:DOID:11168); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083)", "pathway": " (hsa:3593); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-9020591); (R-HSA-9020933)", "pathway_count": 5, "publication_count": 187, "publication_id_list": "10023775;10092818;10207176;10219247;10369418;10415057;10415122;10433356;10510379;10586089;10867011;10899108;11054122;11058569;11084045;11104795;11114383;11120780;11197695;11237011;11278437;11278729;11356008;11404481;11463377;11753820;11960372;12023369;12223527;12242343;12554859;12600988;12626585;12832402;12893768;12947981;1347984;1460289;14634100;14712222;15004198;15087447;15116091;15261459;15584925;15720785;1578138;15805299;15869882;15919823;15950906;16007214;16048438;16107692;16138901;16205632;16236134;16397018;16451196;16510571;16540365;16606674;1673147;1674604;16982608;17427945;17458857;17572495;17587057;18243101;18353781;18389480;18447642;18491316;18644974;18680750;18708069;18800148;18840671;19124156;19161421;19185846;19397496;1940369;1940799;20054003;20145033;20493732;20699468;2070420;21102457;21252155;21689689;21730069;21937440;21994466;2204066;22046235;22205702;22383755;22693070;22851691;23086340;23124025;23172665;23455323;23555662;23967200;24097101;24743777;25234944;25259790;25502872;25516297;26109132;26887945;26972013;28467828;29557506;31844290;32502341;32983136;33043033;33968037;38033168;38167707;38223634;38394507;7510216;7512027;7512451;7516408;7527811;7529288;7543512;7593617;7594602;7638186;7684412;7687627;7795521;7796300;7836910;7898939;7902377;7907877;7911493;8063757;8085155;8102388;8120391;8163946;8186324;8301137;8537680;8602263;8621622;8662928;8663118;8668165;8734788;8742066;8797861;8816495;8871669;8897595;8910398;8921438;8943050;8946277;9013879;9013939;9312047;9354687;9449724;9498755;9550426;9651359;9723655;9736340;9794440;9822675;9836587;9854038;9874564;9890938;9918218", "class_list": "", "function": "Associates with IL23A to form the IL-23 interleukin, a heterodimeric cytokine which functions in innate and adaptive immunity. IL-23 may constitute with IL-17 an acute response to infection in peripheral tissues. IL-23 binds to a heterodimeric receptor complex composed of IL12RB1 and IL23R, activates the Jak-Stat signaling cascade, stimulates memory rather than naive T-cells and promotes production of pro-inflammatory cytokines. IL-23 induces autoimmune inflammation and thus may be responsible for autoimmune inflammatory diseases and may be important for tumorigenesis., [UniProtKB, PubMed]; Association between interleukin-12 +1188A/C polymorphism and the risk of tuberculosis: A meta-analysis., [RefSeq, PubMed]; Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC., [UniProtKB, PubMed]; IL-12 reprograms CAR-expressing natural killer T cells to long-lived Th1-polarized cells with potent antitumor activity. Erratum:[Nat Commun. 2024 Jun 18;15(1):5182. doi: 10.1038/s41467-024-49582-6. PMID: 38890345] Publication Status: Online-Only, [RefSeq, PubMed]; Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis., [RefSeq, PubMed]; This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants of IL6, IL10, FCN2, RNASE3, IL12B and IL17B loci are associated with Schistosoma mansoni worm burden in the Albert Nile region of Uganda. 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": 1, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 1, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 1, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 1, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0005143 interleukin-12 receptor binding;GO:0042164 interleukin-12 alpha subunit binding;GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0070743 interleukin-23 complex;GO:0031906 late endosome lumen;GO:0043514 interleukin-12 complex;GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0032946 positive regulation of mononuclear cell proliferation;GO:0051142 positive regulation of NK T cell proliferation;GO:0050709 negative regulation of protein secretion;GO:0032693 negative regulation of interleukin-10 production;GO:1903588 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "P29460-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16585-1", "uniprot_id": "SGCB_HUMAN", "mass": 34777.0, "length": 318, "protein_name": "Beta-sarcoglycan", "gene_name": "SGCB", "organism": "Human", "refseq_name": "beta-sarcoglycan isoform 1", "refseq_ac": "NP_000223", "gene_names_uniprotkb": "SGCB", "gene_names_refseq": "A3b; LGMD2E; LGMDR4; SGCB; SGC", "protein_names_uniprotkb": "Beta-sarcoglycan; 43 kDa dystrophin-associated glycoprotein; 43DAG; A3b; Beta-SG", "protein_names_refseq": "43 kDa dystrophin-associated glycoprotein; 43DAG; beta-SG; beta-sarcoglycan isoform 1; beta-sarcoglycan(43kD dystrophin-associated glycoprotein); beta-sarcoglycan; limb girdle muscular dystrophy 2E (non-linked families); sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy type 2E (Disease Ontology:DOID:0110279); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:6443); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10189375;10441321;10545507;10660328;10893187;10932245;10942431;11237011;11352924;11430802;11495720;12189167;1319059;15175026;16524571;17905726;18764929;19159218;19346169;19946898;20044576;22159078;22223806;24190977;25862795;27862975;28687063;28832583;29242379;29557506;30345904;30429286;31154438;31217245;31844290;32157095;32387766;32488085;3282674;32897882;32938616;33537174;33592498;33717175;33936100;33968037;33981976;34087483;34171305;34509645;35051231;35416532;35580925;36010968;36241641;36284347;37074911;37317968;37699968;7527495;7547961;7581448;7581449;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8627307;8798547;8845841;8968749;9032047;9214383;9405466;9412493;9565988;9631401;9652404;9864373", "class_list": "", "function": "Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C., [RefSeq, PubMed]; Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix., [UniProtKB]; Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]., [RefSeq]; This study demonstrated that LGMD2E is the most common type of sarcoglycanopathies in the Iranian population., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 13, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7Z635;O00661", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0000139 Golgi membrane;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0007517 muscle organ development;GO:0043010 camera-type eye development", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q16585-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16594-1", "uniprot_id": "TAF9_HUMAN", "mass": 28974.0, "length": 264, "protein_name": "Transcription initiation factor TFIID subunit 9", "gene_name": "TAF9", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 9", "refseq_ac": "NP_001015892", "gene_names_uniprotkb": "TAF9; TAF2G; TAFII31", "gene_names_refseq": "MGC:5067; STAF31/32; TAF2G; TAF9; TAFII-31; TAFII-32; TAFII31; TAFII32; TAFIID32", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 9; RNA polymerase II TBP-associated factor subunit G; STAF31/32; TAFII-31; TAFII-32; TAFII31; TAFII32; Transcription initiation factor TFIID 31 kDa subunit; Transcription initiation factor TFIID 32 kDa subunit", "protein_names_refseq": "RNA polymerase II TBP-associated factor subunit G; TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa; transcription initiation factor TFIID 31 kD subunit; transcription initiation factor TFIID 31 kDa subunit; transcription initiation factor TFIID 32 kDa subunit; transcription initiation factor TFIID subunit 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:6880); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-3214847); (R-HSA-674695); (R-HSA-6804756); (R-HSA-6807505); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 12, "publication_count": 197, "publication_id_list": "10022900;10024882;10199401;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10786633;10821277;10884347;11237011;11239457;11433015;11447225;11486021;11511362;11546806;11551930;11564863;11739720;11740489;11780126;11784853;11856838;11859374;11884399;12064478;12393879;12414730;12574128;12676794;12702766;12851404;12914926;1310361;14701755;14702041;15053879;15313887;1535687;15489290;15601843;15866171;15899866;15960975;16079131;16239144;16308568;16322561;16387653;16901896;17081983;17108107;17349958;1739980;17591690;18079403;1829677;18381289;18490454;18623064;18669648;19121998;19187765;1939271;19608861;19667075;19690332;19965871;20018852;20068231;20457598;20959462;2125285;21317932;22137580;22231121;22252320;22441827;23000554;23166507;23186163;23485397;23676219;23932780;24097444;24145406;24270878;2449431;24714562;24715725;24874608;24997600;25418920;25576301;25675981;26154972;26992070;27846572;28228285;28832583;28904123;29237092;29242379;29257297;29351928;2944599;29493099;29557506;30059200;30315122;30379171;30429286;31092671;31154438;31492838;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32541894;32574038;32897882;32938616;33214551;33298915;33592498;33691108;33717175;33795473;33912179;33936100;33981976;34019948;34087483;34171305;34846842;35051231;35132862;35251023;35254053;35289036;35513511;35705054;36241641;36284347;37541260;37938771;38665916;39531497;39534244;40307207;40596516;7151173;7597030;7601352;7660122;7660129;7660130;7667268;7715707;7761466;8156590;8253082;8330735;8339931;8370526;8465201;8490964;8628262;8668525;8946909;9009278;9153304;9188510;9256425;9353262;9405375;9407024;9427644;9450929;9489704;9558366;9674425;9705341;9832505;9880483;9885574;9925639", "class_list": "", "function": "Human cytomegalovirus pp65 peptide-induced autoantibodies cross-reacts with TAF9 protein and induces lupus-like autoimmunity in BALB/c mice. Publication Status: Online-Only, [RefSeq, PubMed]; Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5' exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; TAF9 directly binds HCA587/MAGEC2 through its CR domain, suggesting that HCA587/MAGEC2 may involve in TAF9 binding with DNA to regulate certain genes transcription., [RefSeq, PubMed]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473). TAF9 is also a component of the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex (PubMed:15899866). TAF9 and its paralog TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes (PubMed:15899866). Essential for cell viability (PubMed:15899866). May have a role in gene regulation associated with apoptosis (PubMed:15899866)., [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": 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "D3DWA3;Q5U0D1;Q9BTS1", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0046982 protein heterodimerization activity;GO:0051117 ATPase binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0033276 transcription factor TFTC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0071339 MLL1 complex;GO:0070761 pre-snoRNP complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0060760 positive regulation of response to cytokine stimulus;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q16594-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15649-1", "uniprot_id": "ZNHI3_HUMAN", "mass": 17607.0, "length": 155, "protein_name": "Zinc finger HIT domain-containing protein 3", "gene_name": "ZNHIT3", "organism": "Human", "refseq_name": "zinc finger HIT domain-containing protein 3 isoform 2", "refseq_ac": "NP_001268361", "gene_names_uniprotkb": "ZNHIT3; TRIP3", "gene_names_refseq": "Hit1; PEHO; TRIP3; ZNHIT3", "protein_names_uniprotkb": "Zinc finger HIT domain-containing protein 3; HNF-4a coactivator; TR-interacting protein 3; TRIP-3; Thyroid hormone receptor interactor 3; Thyroid receptor-interacting protein 3", "protein_names_refseq": "HNF-4a coactivator; TR-interacting protein 3; TRIP-3; thyroid hormone receptor interactor 3; thyroid receptor interacting protein 3; zinc finger HIT domain-containing protein 3 isoform 2; zinc finger HIT domain-containing protein 3; zinc finger, HIT domain containing 3; zinc finger, HIT type 3", "tax_id": 9606, "disease": "PEHO syndrome (Disease Ontology:DOID:0080539)", "pathway": " (hsa:9326)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;11916906;17081983;18452278;18669648;18691976;19149918;19596656;19651622;21406692;24366607;24714562;25576301;26154972;26728094;27846572;27920218;28218747;28228285;28335020;28561026;28832583;28904123;29242379;30315122;31530632;31844290;32157095;32161166;32357974;32488085;32983136;33537174;33592498;33968037;34171305;35318648;35580925;36010968;38599276;7776974", "class_list": "", "function": "A high GYPC gene expression is associated with an unfavorable outcome, in contrast, a high TRIP3 gene expression is associated with a favorable outcome in childhood ALL., [RefSeq, PubMed]; Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome., [RefSeq, PubMed]; Results identify TRIP3 as a novel regulator of PPARgamma-mediated adipocyte differentiation., [RefSeq, PubMed]; Results suggest that loss-of-function missense mutation of znhit3 underlies PEHO 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": 2, "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": "A8K493;K7EQP1;Q8WVJ3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046966 nuclear thyroid hormone receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0070761 pre-snoRNP complex", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0000492 box C/D snoRNP assembly;GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q15649-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54920-1", "uniprot_id": "SNAA_HUMAN", "mass": 33233.0, "length": 295, "protein_name": "Alpha-soluble NSF attachment protein", "gene_name": "NAPA", "organism": "Human", "refseq_name": "alpha-soluble NSF attachment protein", "refseq_ac": "NP_003818", "gene_names_uniprotkb": "NAPA; SNAPA", "gene_names_refseq": "NAPA; SNAPA", "protein_names_uniprotkb": "Alpha-soluble NSF attachment protein; N-ethylmaleimide-sensitive factor attachment protein alpha; SNAP-alpha", "protein_names_refseq": "N-ethylmaleimide-sensitive factor attachment protein, alpha; alpha-SNAP; alpha-soluble NSF attachment protein", "tax_id": 9606, "disease": "temporal lobe epilepsy (Disease Ontology:DOID:3328)", "pathway": " (hsa:8775); (R-HSA-204005); (R-HSA-432722); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 7, "publication_count": 337, "publication_id_list": "10052452;10189370;10209123;10318838;10394364;10445031;10559959;10637310;10652308;10652516;10679020;10747087;10761932;10788476;10825291;10865125;10903204;10921873;10982397;10990452;11035026;11035033;11172815;11237011;11285137;11303027;11306556;11346801;11359012;11461920;11493604;11590181;11604418;11689439;11689559;11694590;11703931;11718716;11726511;11739780;11748249;11827983;11839770;11927603;11994746;12011112;12047556;12070132;12235121;12377769;12383348;12388752;12429822;12620188;12620189;12634853;14504276;14580338;14654841;14718928;14742712;15029241;15037235;15077113;15077114;15102850;15128430;15269279;15272311;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;15980433;16030262;16042553;16129887;16155256;16303754;1631136;16495487;16571679;16624868;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17005010;17038314;17113389;17116749;17192411;17253781;17274799;17287728;17316621;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18086915;18182008;18195106;18243103;18256213;18283113;18287528;18367545;18451304;18524849;18664496;18809720;18843296;18946081;1898986;19015319;19109418;19151722;19164740;19296914;19369418;19490898;19536132;1957170;19620288;19631211;19638414;19656848;19715559;19758564;20005805;20136777;20163571;20357002;20427317;20462495;20534429;20545907;20637885;20679433;20685960;20874812;20966969;21183348;21219331;21421921;21436057;21478858;21532587;21550981;21689688;21807881;21844168;22013193;22094269;22157747;22188167;22304919;22335553;22354037;22581368;22675024;22717455;23091056;23186163;23239882;23378023;23378591;23396477;23437303;23462996;23479643;23481700;23698585;23839779;23864707;23936529;23940353;24119662;24275569;24715725;24794632;24806965;24917561;25202031;25343031;25364732;25406594;25418920;25436559;25492864;25502872;25505266;25586378;25619252;25645385;25708460;25892735;26154972;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29317506;29331515;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30429286;30444036;30484775;31154438;31217245;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34433824;34509645;34653219;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36284347;36581221;37938771;38665916;40596516;40914422;7691276;7844144;7909812;8001155;8128252;8132710;8221884;8253837;8374173;8440258;8505331;8524399;8620540;8636227;8663406;8670264;8670882;8945478;8991093;9050864;9094723;9114004;9150144;9177194;9230071;9244307;9269766;9288971;9307973;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9647643;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "", "function": "High affinity associations with alpha-SNAP enable calcium entry via Orai1 channels. Publication Status: Online-Only, [RefSeq, PubMed]; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus (Probable). Together with GNA12 promotes CDH5 localization to plasma membrane (PubMed:15980433)., [UniProtKB, PubMed]; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the soluble NSF attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. The encoded protein plays a role in the completion of membrane fusion by mediating the interaction of N-ethylmaleimide-sensitive factor (NSF) with the vesicle-associated and membrane-associated SNAP receptor (SNARE) complex, and stimulating the ATPase activity of NSF. Alternatively spliced transcript variants have been observed 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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "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": "A8K879;Q96IK3;Q9BVJ3", "ec_number_list": "", "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0019905 syntaxin binding;GO:0000149 SNARE binding;GO:0005483 soluble NSF attachment protein activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0035494 SNARE complex disassembly;GO:0006886 intracellular protein transport;GO:0035249 synaptic transmission, glutamatergic;GO:0061025 membrane fusion;GO:0055093 response to hyperoxia", "synthesized_glycan_count": 0, "hit_score": 34.0, "record_id": "P54920-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15269-1", "uniprot_id": "SPTC1_HUMAN", "mass": 52744.0, "length": 473, "protein_name": "Serine palmitoyltransferase 1", "gene_name": "SPTLC1", "organism": "Human", "refseq_name": "serine palmitoyltransferase 1 isoform c", "refseq_ac": "NP_001268232", "gene_names_uniprotkb": "SPTLC1; LCB1", "gene_names_refseq": "ALS27; HSAN1; HSN1; LBC1; LCB1; SPT1; SPTI; SPTLC1", "protein_names_uniprotkb": "Serine palmitoyltransferase 1; 2.3.1.50; LCB 1; Long chain base biosynthesis protein 1; SPT 1; SPT1; Serine-palmitoyl-CoA transferase 1", "protein_names_refseq": "long chain base biosynthesis protein 1; serine C-palmitoyltransferase; serine palmitoyltransferase 1 isoform c; serine-palmitoyl-CoA transferase 1", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy (Disease Ontology:DOID:0050548); hereditary sensory and autonomic neuropathy type 1A (Disease Ontology:DOID:0070152); hereditary sensory and autonomic neuropathy type 1 (Disease Ontology:DOID:0070162); juvenile amyotrophic lateral sclerosis type 27 (Disease Ontology:DOID:0081381)", "pathway": " (hsa:10558); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 170, "publication_id_list": "10722674;10751414;10802064;10947957;11237011;11242106;11242114;11479835;11937514;13646503;14152213;14685229;14685263;14976195;15037712;15063729;15328338;15337768;16100120;16118219;16571669;16793762;16895911;16959974;17023427;17050692;17060578;17331073;17355976;17449912;17591919;17982138;18077166;18165232;18165233;18184806;18491316;19005213;19132419;19233134;19416851;19506037;19648650;19651702;20061445;20110355;20182505;20504773;21618344;21620961;21994399;22302274;22517924;22970244;23180825;23328677;23454272;23602659;23629659;23754960;24247255;24569996;24714562;24715725;24782409;25418920;25576301;25788259;26154972;26375851;26681808;26728094;26811146;26992070;27846572;27862975;27920218;28063628;28228285;28467828;28575652;28832583;28834231;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29563527;29632046;29632711;29786170;29789417;30192525;30420926;30429286;30524438;30700557;31154438;31217245;31509666;31530632;31844290;31848261;31895563;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33558761;33558762;33592498;33717175;33912179;33936100;33968037;33981976;34059824;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34459874;34509645;34932366;34986032;35051231;35154160;35251023;35318648;35409383;35561310;35580925;35904184;36010968;36170811;36204986;36241641;36284347;36689507;36801857;36902339;36907437;36966328;37224812;37308477;37390971;37938771;38665916;38927628;40914422;4339164;4817756;9188692;9312549;9363775", "class_list": "glycogene", "function": "Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases. The SPT complex is also composed of SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer with SPTLC2 or SPTLC3 forms the catalytic core (PubMed:19416851, PubMed:33558762, PubMed:36170811). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference (PubMed:19416851, PubMed:33558762). The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA (PubMed:19416851, PubMed:19648650). The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference (PubMed:19416851, PubMed:19648650, PubMed:33558761, PubMed:33558762). Required for adipocyte cell viability and metabolic homeostasis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1). Publication Status: Online-Only, [RefSeq, PubMed]; Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans., [RefSeq, PubMed]; The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment., [RefSeq, PubMed]; This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 572, "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": "A8K681;Q5VWB4;Q96IX6", "ec_number_list": "2.3.1.50", "go_molecular_function": "GO:0004758 serine C-palmitoyltransferase activity;GO:0030170 pyridoxal phosphate binding;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0017059 serine palmitoyltransferase complex;GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0006686 sphingomyelin biosynthetic process;GO:0006688 glycosphingolipid biosynthetic process;GO:0046513 ceramide biosynthetic process;GO:0006665 sphingolipid metabolic process;GO:0030148 sphingolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "O15269-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15260-1", "uniprot_id": "INGR1_HUMAN", "mass": 54405.0, "length": 489, "protein_name": "Interferon gamma receptor 1", "gene_name": "IFNGR1", "organism": "Human", "refseq_name": "interferon gamma receptor 1 isoform 1 precursor", "refseq_ac": "NP_000407", "gene_names_uniprotkb": "IFNGR1", "gene_names_refseq": "CD119; IFNGR1; IFNGR; IMD27A; IMD27B", "protein_names_uniprotkb": "Interferon gamma receptor 1; CDw119; IFN-gamma receptor 1; IFN-gamma-R-alpha; IFN-gamma-R1; Interferon gamma receptor alpha-chain", "protein_names_refseq": "AVP, type 2; CD119 antigen; CDw119; IFN-gamma receptor 1; IFN-gamma-R-alpha; IFN-gamma-R1; antiviral protein, type 2; immune interferon receptor 1; interferon gamma receptor 1 isoform 1 precursor; interferon-gamma receptor alpha chain", "tax_id": 9606, "disease": "immunodeficiency 27A (Disease Ontology:DOID:0111955); immunodeficiency 27B (Disease Ontology:DOID:0111956); osteoporosis (Disease Ontology:DOID:11476); allergic disease (Disease Ontology:DOID:1205); uveitis (Disease Ontology:DOID:13141); hepatitis B (Disease Ontology:DOID:2043); arteriosclerosis (Disease Ontology:DOID:2349); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); tuberculosis (Disease Ontology:DOID:399); pulmonary hypertension (Disease Ontology:DOID:6432); periodontitis (Disease Ontology:DOID:824); Helicobacter pylori infection, susceptibility to (MONDO:MONDO:0010853)", "pathway": " (hsa:3459); (R-HSA-877300); (R-HSA-877312); (R-HSA-9679191); (R-HSA-9732724)", "pathway_count": 5, "publication_count": 149, "publication_id_list": "10.1101/2023.09.13.557529;10064597;10067896;10079289;10087012;10192386;10421843;10805787;10811850;10986460;11139207;11237011;11240951;11335768;11972023;12040185;12438563;12446674;12516030;12851715;12855578;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;15589309;15780933;16115318;16195661;16237089;16467876;16522641;16715106;17125875;17514500;17662961;18031232;18292551;18362138;18591661;20015550;20049711;20105447;20130243;20186794;20223979;20304997;20363976;22401777;22552008;22645359;22708048;22814904;23061660;23090970;23328677;23555621;23641311;24190977;24272870;24417533;24584101;25502872;25592983;25801024;26002965;26024233;26154972;26343451;26992070;27090790;27846572;27868075;28425720;28467828;28744922;28883123;28904123;29317506;29343571;29437277;29493099;29557506;2971451;29741879;29945920;30201761;30410026;31048504;31217245;31611695;31844290;32157095;32350084;32387766;32938616;32983136;33123756;33141586;33239784;33392160;33633747;33936100;33968037;34078123;34171305;34357683;34433824;35051231;35154160;35251023;35318648;35580925;36215666;36260452;36524496;37074911;37213666;37327531;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8027545;8142896;8156998;8176225;8315383;8443182;8483949;8530158;8550631;8631301;8662591;9111318;9143706;9367779;9389728;9446616", "class_list": "", "function": "Correlation of single-nucleotide polymorphism at interferon-gamma R1 (at Position - 56) in positive purified protein derivative health workers with COVID-19 infection., [RefSeq, PubMed]; IFNG and IFNGR1 polymorphisms are associated with tuberculosis: a case-control study., [RefSeq, PubMed]; Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (PubMed:20015550). Associates with transmembrane accessory factor IFNGR2 to form a functional receptor (PubMed:10986460, PubMed:2971451, PubMed:7615558, PubMed:7617032, PubMed:7673114). Upon ligand binding, the intracellular domain of IFNGR1 opens out to allow association of downstream signaling components JAK1 and JAK2. In turn, activated JAK1 phosphorylates IFNGR1 to form a docking site for STAT1. Subsequent phosphorylation of STAT1 leads to dimerization, translocation to the nucleus, and stimulation of target gene transcription (PubMed:28883123). STAT3 can also be activated in a similar manner although activation seems weaker. IFNGR1 intracellular domain phosphorylation also provides a docking site for SOCS1 that regulates the JAK-STAT pathway by competing with STAT1 binding to IFNGR1 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Recombinant Klotho attenuates IFNgamma receptor signaling and SAMHD1 expression through blocking NF-kappaB translocation in glomerular mesangial cells. Publication Status: Online-Only, [RefSeq, PubMed]; Single nucleotide polymorphism rs2234711 of interferon gamma receptor 1 is associated with pulmonary tuberculosis in the population of North India., [RefSeq, PubMed]; This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 6, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 13, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DFT7;E1P587;Q53Y96", "ec_number_list": "", "go_molecular_function": "GO:0004906 type II interferon receptor activity;GO:0019955 cytokine binding;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001774 microglial cell activation;GO:0007165 signal transduction;GO:0010628 positive regulation of gene expression;GO:0048143 astrocyte activation;GO:1902004 positive regulation of amyloid-beta formation", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "P15260-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKX7-1", "uniprot_id": "NUP50_HUMAN", "mass": 50144.0, "length": 468, "protein_name": "Nuclear pore complex protein Nup50", "gene_name": "NUP50", "organism": "Human", "refseq_name": "nuclear pore complex protein Nup50 isoform b", "refseq_ac": "NP_009103", "gene_names_uniprotkb": "NUP50; NPAP60L; PRO1146", "gene_names_refseq": "NPAP60L; NPAP60; NUP50", "protein_names_uniprotkb": "Nuclear pore complex protein Nup50; 50 kDa nucleoporin; Nuclear pore-associated protein 60 kDa-like; Nucleoporin Nup50", "protein_names_refseq": "50 kDa nucleoporin; nuclear pore complex protein Nup50 isoform b; nuclear pore complex protein Nup50; nuclear pore-associated protein 60L; nucleoporin 50kDa; nucleoporin 50kD; nucleoporin Nup50", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:10762); (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-9705671)", "pathway_count": 31, "publication_count": 463, "publication_id_list": "10.1101/2023.09.13.557529;10205180;10228171;10323864;10444065;10449902;10489353;10526235;10531003;10556282;10574707;10601273;10601333;10668806;10725331;10759568;10827188;10846107;10851237;10862613;10920397;10954706;11014198;11073998;11095724;11112487;11118210;11124902;11157743;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;15731250;15802566;15823533;15829507;15831457;1586970;15931174;15940266;15959518;15989970;16009940;16030353;16112642;16122702;16139798;16140760;16194093;16278218;16314397;16352599;16361254;16407192;16428300;16478998;16608850;16608852;16626738;16688858;16699525;16710424;16715065;16775314;16810316;16815975;16872604;16914094;16933365;16964243;17000901;17018294;17081640;17132145;17183683;17204286;17224653;17287340;17289916;17317185;17322306;17376915;17412958;1754405;17690096;17693435;17698605;17705785;18203656;18226598;18235501;18235502;18287095;18305167;18364396;18381449;18394993;18408014;18411249;18423201;18477386;18535146;18550409;18583345;18625722;18628979;18669648;18691969;18708356;18767875;18809514;18946085;18984158;19073728;19125153;19229036;19270716;19287951;19413330;1944575;19494120;19596686;19608861;19622798;19640981;19651622;19664994;19664995;19682613;19690332;19706679;19767751;19779455;1985200;19914676;19956565;20016008;20016594;20016603;20068231;20098713;20129943;20133869;2017161;2017166;20190268;20219937;20300531;20305658;20308324;20351170;20385878;20417598;20630994;20663916;20705237;20797632;20797634;20953181;20972456;21098080;21147198;21167178;21284855;21311021;21335236;21406692;21450806;21550342;21554500;21559454;21593607;21647297;21690215;21740066;22121020;22174689;22402492;22457066;22464730;22465953;22493095;22508508;22541429;22635276;22661230;22732409;22735644;22751501;22825850;22893130;22940245;22941947;22944664;23092970;23186163;23299939;23301498;23349863;23481700;23582887;23750026;23804756;23826332;23871147;24002598;24027577;24029068;24068740;24369422;2470644;24714562;24715725;24782567;24870230;25114211;25218447;25391492;25576301;25640237;25645385;25704882;25723178;25849199;26375851;26572645;26992070;27068747;27501258;27600516;27862975;28415052;28514659;28832583;28834231;28904123;29237092;29242379;29331515;29493099;29508533;29557506;29632711;29786170;30059200;30192525;30355688;30360396;30379171;30429286;30524438;30761409;30779550;30833945;31154438;31217245;31222486;31373491;31492838;31530632;31844290;31848261;31850239;31937595;32157095;32353859;32387766;32428392;32488085;32502341;32589897;32726803;32728199;32897882;32938616;32938750;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33214551;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34087483;34110168;34166398;34171305;34229054;34239064;34290717;34341353;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34561969;34597346;34932366;35051231;35102342;35138101;35254053;35580925;35643212;36010968;36215666;36241641;36284347;37051252;37217939;38665916;39531497;39534244;40307207;40596516;6261960;6930639;7559393;7585962;7759547;7769657;7828588;7878053;7958838;8113738;8196654;8313914;8721986;8805303;8946918;9092824;9305631;9405152;9412458;9436978;9452416;9512417;9525617;9582382;9618489;9651582;9660920;9660949;9755184;9756909;9837918;9845364;9873016;9885291;9920933", "class_list": "", "function": "Component of the nuclear pore complex that has a direct role in nuclear protein import (PubMed:20016008). Actively displaces NLSs from importin-alpha, and facilitates disassembly of the importin-alpha:beta-cargo complex and importin recycling (PubMed:20016008). Interacts with regulatory proteins of cell cycle progression including CDKN1B (By similarity). This interaction is required for correct intracellular transport and degradation of CDKN1B (By similarity)., [UniProtKB, UniProtKB, PubMed]; The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. 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": 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": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B1AHA4;B2RB15;O75644;Q8N6V5;Q9NPM9;Q9NPR6;Q9P1K5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0051028 mRNA transport;GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 47.2, "record_id": "Q9UKX7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NBT0-1", "uniprot_id": "POC1A_HUMAN", "mass": 45009.0, "length": 407, "protein_name": "POC1 centriolar protein homolog A", "gene_name": "POC1A", "organism": "Human", "refseq_name": "POC1 centriolar protein homolog A isoform 2", "refseq_ac": "NP_001155052", "gene_names_uniprotkb": "POC1A; WDR51A", "gene_names_refseq": "PIX2; POC1A; SOFT; WDR51A", "protein_names_uniprotkb": "POC1 centriolar protein homolog A; Pix2; Proteome of centriole protein 1A; WD repeat-containing protein 51A", "protein_names_refseq": "POC1 centriolar protein homolog A isoform 2; POC1 centriolar protein homolog A; WD repeat domain 51A; WD repeat-containing protein 51A; proteome of centriole protein 1A", "tax_id": 9606, "disease": "short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (MONDO:MONDO:0013894)", "pathway": " (hsa:25886)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "14654843;18068700;19109428;20008567;22840363;22840364;23015594;23481700;24397554;24714562;25418920;26154972;26375851;26728094;26811146;26992070;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30524438;31154438;31217245;31844290;32157095;32265295;32387766;32502341;32897882;32938616;33298915;33392160;33717175;33912179;33968037;34087483;34171305;34211107;34509645;34561969;35051231;35234134;35748773;36284347;38245004;38429900", "class_list": "", "function": "Based on these data, we propose that Pix1 and Pix2 are microtubule-associated adaptor proteins that likely contribute to a range of developmental and cell division processes., [RefSeq, PubMed]; Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps. Publication Status: Online-Only, [RefSeq, PubMed]; Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling., [RefSeq, PubMed]; POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]., [RefSeq]; POC1A, prognostic biomarker of immunosuppressive microenvironment in cancer., [RefSeq, PubMed]; Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation., [UniProtKB, PubMed, PubMed]; Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation., [RefSeq, PubMed]; Upregulation of POC1A in lung adenocarcinoma promotes tumour progression and predicts poor prognosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A4FUW4;E9PFC6;Q0VDF8;Q2TAK6;Q96IK6;Q9UFJ8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q8NBT0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15211-1", "uniprot_id": "RGL2_HUMAN", "mass": 83549.0, "length": 777, "protein_name": "Ral guanine nucleotide dissociation stimulator-like 2", "gene_name": "RGL2", "organism": "Human", "refseq_name": "ral guanine nucleotide dissociation stimulator-like 2 isoform 2", "refseq_ac": "NP_001230667", "gene_names_uniprotkb": "RGL2; RAB2L", "gene_names_refseq": "HKE1.5; KE1.5; RAB2L; RGL2", "protein_names_uniprotkb": "Ral guanine nucleotide dissociation stimulator-like 2; RalGDS-like 2; RalGDS-like factor; Ras-associated protein RAB2L", "protein_names_refseq": "GDS-related protein; ral guanine nucleotide dissociation stimulator-like 2 isoform 2; ralGDS-like 2; ralGDS-like factor; ras-associated protein RAB2L", "tax_id": 9606, "disease": "", "pathway": " (hsa:5863); (R-HSA-5673001)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10508167;10869344;11027663;11090077;11136978;11230166;11237011;11313946;11546808;11702783;12032311;12094235;12121613;14506247;14707138;15356145;1545823;15546878;16627759;16684964;16964243;1716764;17998941;18491316;18775330;1898771;19279408;19920141;20068231;20478380;21102635;21160498;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23186163;23303910;23443682;23575685;24897931;24937142;25219551;25781681;26085527;28778966;29242379;30779550;31135801;31154438;32157095;32387766;32938616;33912179;35051231;6148751;7809086;7935463;7972015;8052307;8394845;8493579;8665852;8710374;8939933;8976381;9545376;9604935;9927426", "class_list": "", "function": "Probable guanine nucleotide exchange factor. Putative effector of Ras and/or Rap. Associates with the GTP-bound form of Rap 1A and H-Ras in vitro (By similarity)., [UniProtKB]; SAMD9, an IFN-gamma-responsive protein, interacts with RGL2 to diminish the expression of EGR1, a protein of direct relevance to the pathogenesis of ectopic calcification and inflammation., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4DG72;Q5STK0;Q9Y3F3", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "O15211-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14BN4-1", "uniprot_id": "SLMAP_HUMAN", "mass": 95198.0, "length": 828, "protein_name": "Sarcolemmal membrane-associated protein", "gene_name": "SLMAP", "organism": "Human", "refseq_name": "sarcolemmal membrane-associated protein isoform a", "refseq_ac": "NP_001291349", "gene_names_uniprotkb": "SLMAP; KIAA1601; PRO3577; SLAP", "gene_names_refseq": "SLAP; SLMAP", "protein_names_uniprotkb": "Sarcolemmal membrane-associated protein; Sarcolemmal-associated protein", "protein_names_refseq": "sarcolemmal membrane-associated protein isoform a; sarcolemmal membrane-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7871)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "10986292;11237011;12975309;19538755;20068231;21406692;23186163;23481700;24715725;25576301;25645385;26154972;26992070;27846572;27862975;27920218;28228285;28832583;29063833;29242379;29393594;29493099;29557506;29632711;29786170;29789417;30315122;30379171;30524438;30622739;30779550;31154438;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33091337;33141586;33298915;33537174;33592498;33633747;33717175;33936100;33968037;34185709;34509645;34932366;35051231;35580925;36010968;37938771", "class_list": "", "function": "Associates with the striatin-interacting phosphatase and kinase (STRIPAK) core complex, forming the extended (SIKE1:SLMAP)STRIPAK complex (PubMed:29063833, PubMed:30622739). The (SIKE1:SLMAP)STRIPAK complex dephosphorylates STK3 leading to the inhibition of Hippo signaling and the control of cell growth (PubMed:29063833, PubMed:30622739). May play a role during myoblast fusion (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Here, the authors discover SAV1-mediated inhibition of the PP2A complex STRIPAK(SLMAP) as a key mechanism of MST1/2 activation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 8, "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": "Q14C95;Q6AI54;Q6UXC9;Q6ZVQ8;Q8NCW9;Q9H297;Q9HCH1;Q9Y681", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005790 smooth endoplasmic reticulum;GO:0005813 centrosome;GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:1900825 regulation of membrane depolarization during cardiac muscle cell action potential;GO:0006936 muscle contraction;GO:0072659 protein localization to plasma membrane;GO:0035331 negative regulation of hippo signaling;GO:1902305 regulation of sodium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q14BN4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43151-1", "uniprot_id": "TET3_HUMAN", "mass": 193705.0, "length": 1795, "protein_name": "Methylcytosine dioxygenase TET3", "gene_name": "TET3", "organism": "Human", "refseq_name": "methylcytosine dioxygenase TET3 isoform 1", "refseq_ac": "NP_001274420", "gene_names_uniprotkb": "TET3; CXXC10; KIAA0401", "gene_names_refseq": "BEFAHRS; TET3; hCG_40738", "protein_names_uniprotkb": "Methylcytosine dioxygenase TET3; 1.14.11.80", "protein_names_refseq": "methylcytosine dioxygenase TET3 isoform 1; probable methylcytosine dioxygenase TET3; putative methylcytosine dioxygenase; ten-eleven translocation 3; tet oncogene family member 3", "tax_id": 9606, "disease": "esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); Beck-Fahrner syndrome (MONDO:MONDO:0032922)", "pathway": " (hsa:200424); (R-HSA-5221030); (R-HSA-9821002)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "11237011;12646957;15375572;17320160;17320161;17320163;17363312;17713478;17851529;18003914;18587051;19372391;19420352;19923888;20639862;21057493;21321204;21496894;21817016;21862836;22327402;22420752;22962365;23217707;23222540;23353889;23403289;23481700;23548903;23727577;23812591;24304661;24315485;24357321;24394411;25218447;25557551;25892735;28228285;28832583;29242379;29276034;29508533;29769354;30315122;30379171;30620550;31928709;32357974;32387766;32502341;32897882;32938616;32938750;32983136;33141586;33298915;33717175;33912179;33968037;34509645;34561969;34846842;35051231;35132862;35254053;35289036;35314832;35580925;36010968;37340703;38253038;38582229;38724827;39083093;39201247;39231319;40307207", "class_list": "", "function": "Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in epigenetic chromatin reprogramming in the zygote following fertilization (PubMed:31928709). Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation (By similarity). Selectively binds to the promoter region of target genes and contributes to regulate the expression of numerous developmental genes (PubMed:23217707). In zygotes, DNA demethylation occurs selectively in the paternal pronucleus before the first cell division, while the adjacent maternal pronucleus and certain paternally-imprinted loci are protected from this process. Participates in DNA demethylation in the paternal pronucleus by mediating conversion of 5mC into 5hmC, 5fC and 5caC. Does not mediate DNA demethylation of maternal pronucleus because of the presence of DPPA3/PGC7 on maternal chromatin that prevents TET3-binding to chromatin (By similarity). In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT (PubMed:23353889). Binds preferentially to DNA containing cytidine-phosphate-guanosine (CpG) dinucleotides over CpH (H=A, T, and C), hemimethylated-CpG and hemimethylated-hydroxymethyl-CpG (PubMed:29276034)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; MiR-26b-5p/TET3 regulates the osteogenic differentiation of human bone mesenchymal stem cells and bone reconstruction in female rats with calvarial defects. Publication Status: Online-Only, [RefSeq, PubMed]; Mutational status of TET1, TET2, and TET3 in myeloproliferative neoplasms (MPNs), chronic myelomonocytic leukemia (CMML), and acute myeloid leukemia (AML) GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Selective Estrogen Receptor Modulators' (SERMs) Influence on TET3 Expression in Breast Cancer Cell Lines with Distinct Biological Subtypes. Publication Status: Online-Only, [RefSeq, PubMed]; TET family influences DNA methylation in hematopoietic malignancy, [RefSeq, PubMed]; TET3 Protein Represses Proliferation of the MG-63 Human Osteosarcoma Cell Line by Regulating DNA Demethylation: an Epigenetic Study., [RefSeq, PubMed]; TET3 boosts hepatocyte autophagy and impairs non-alcoholic fatty liver disease by increasing ENPP1 promoter hypomethylation., [RefSeq, PubMed]; TET3 downregulation and low 5-hydroxymethylcytosine are epigenetic signatures of head and neck carcinoma. 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": 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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A6NEI3;J3KNF3;K9JJH7;Q86Z24;Q8TBM9", "ec_number_list": "1.14.11.80;2.1.1.319", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0008327 methyl-CpG binding;GO:0070579 DNA 5-methylcytosine dioxygenase activity;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0001939 female pronucleus;GO:0005694 chromosome;GO:0001940 male pronucleus", "go_biological_process": "GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006493 protein O-linked glycosylation;GO:0044727 epigenetic programing of male pronucleus;GO:0010557 positive regulation of macromolecule biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "O43151-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50991-1", "uniprot_id": "TCPD_HUMAN", "mass": 57924.0, "length": 539, "protein_name": "T-complex protein 1 subunit delta", "gene_name": "CCT4", "organism": "Human", "refseq_name": "T-complex protein 1 subunit delta isoform b", "refseq_ac": "NP_001243650", "gene_names_uniprotkb": "CCT4; CCTD; SRB", "gene_names_refseq": "CCT-DELTA; CCT4; Cctd; SRB", "protein_names_uniprotkb": "T-complex protein 1 subunit delta; 3.6.1.-; CCT-delta; Chaperonin containing T-complex polypeptide 1 subunit 4; Stimulator of TAR RNA-binding; TCP-1-delta", "protein_names_refseq": "T-complex protein 1 subunit delta isoform b; T-complex protein 1 subunit delta; TCP-1-delta; chaperonin containing T-complex polypeptide 1 subunit 4; chaperonin containing TCP1, subunit 4 (delta); chaperonin containing t-complex polypeptide 1, delta subunit; stimulator of TAR RNA-binding", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy (Disease Ontology:DOID:0050548); intrinsic cardiomyopathy (Disease Ontology:DOID:0060036)", "pathway": " (hsa:10575); (R-HSA-389957); (R-HSA-389960); (R-HSA-390450); (R-HSA-390471); (R-HSA-5620922); (R-HSA-6814122)", "pathway_count": 7, "publication_count": 187, "publication_id_list": "11252952;12502735;12665801;14532270;14654843;15258860;15314642;15889144;16408927;16702223;16717095;17081065;17574030;18775504;19011634;19081074;19376773;19421068;19575670;19608861;19664995;20068231;20080638;20233871;20603001;21098288;21427764;21654843;21740066;21995946;22072986;22139371;22389062;22424782;22500027;22544926;23186163;23301498;23351793;23481700;23612981;23637185;23646949;23747015;24129315;24296415;24366607;24397554;24714562;24715725;24756126;25342745;25367160;25418920;25443296;25446516;25467444;25576301;25645385;25659125;25675501;25810538;25880248;25892735;26154972;26375851;26728094;26758079;26768311;26811146;26853435;26929215;26992070;27397612;27452731;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28855257;28871256;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29605689;29632046;29769354;29786170;29789417;30192525;30315122;30379171;30397120;30429286;30524438;30779550;30833945;31020640;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31921104;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33144677;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34732665;34932366;35051231;35083852;35138101;35154160;35251023;35449234;35580925;36010968;36102200;36215666;36241641;36284347;36493755;36581221;37193829;37217939;37938771;38216268;38253038;38665916;39302247;39480921;39990658;40596516;40914422;8626763;9153422;9819444", "class_list": "", "function": "CCT4 knockdown enhances the sensitivity of cisplatin by inhibiting glycolysis in human esophageal squamous cell carcinomas., [RefSeq, PubMed]; CCT4 suppression inhibits tumor growth in hepatocellular carcinoma by interacting with Cdc20. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis (PubMed:25467444, PubMed:36493755, PubMed:35449234, PubMed:37193829). The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance (PubMed:25467444). As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; LINC01234 promoted malignant behaviors of breast cancer cells via hsa-miR-30c-2-3p/CCT4/mTOR signaling pathway., [RefSeq, PubMed]; The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[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": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R6I3;B7Z8B1;F5H5W3;O14870;Q53QP9;Q96C51", "ec_number_list": "5.6.2.4;3.6.5.-;3.6.1.-;3.6.4.-;3.6.4.13;1.2.1.12;3.5.1.-;3.5.1.98;3.6.4.6;3.6.1.5;2.7.7.7;2.7.7.49;3.6.4.10;5.2.1.8;3.2.1.45;2.4.1.-;3.2.1.-;3.2.1.46;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.-.-;3.4.19.12;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.-.-;3.1.13.-;2.7.1.91;2.3.1.-;2.7.4.3", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0070062 extracellular exosome;GO:0042470 melanosome", "go_biological_process": "GO:0090666 scaRNA localization to Cajal body;GO:1904871 positive regulation of protein localization to Cajal body;GO:0032212 positive regulation of telomere maintenance via telomerase;GO:0050821 protein stabilization;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "P50991-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5TEJ8-1", "uniprot_id": "THMS2_HUMAN", "mass": 72049.0, "length": 643, "protein_name": "Protein THEMIS2", "gene_name": "THEMIS2", "organism": "Human", "refseq_name": "protein THEMIS2 isoform 2", "refseq_ac": "NP_001034566", "gene_names_uniprotkb": "THEMIS2; C1orf38; ICB1", "gene_names_refseq": "C1orf38; ICB-1; ICB1; THEMIS2", "protein_names_uniprotkb": "Protein THEMIS2; Induced by contact to basement membrane 1 protein; Protein ICB-1; Thymocyte-expressed molecule involved in selection protein 2", "protein_names_refseq": "basement membrane-induced; induced by contact to basement membrane 1 protein; protein ICB-1; protein THEMIS2 isoform 2; protein THEMIS2; thymocyte-expressed molecule involved in selection protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9473)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11237011;12191572;16219472;17697703;19308812;19942713;20644716;22544926;22732588;23186163;23474491;23481700;24366607;24714562;24715725;24826199;25418920;25469497;25576301;26154972;26375851;26728094;26758079;26992070;27600516;27846572;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29093164;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30626607;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33123756;33141586;33298915;33389102;33392160;33717175;33912179;33968037;34561969;34932366;35051231;35154160;35561310;35580925;36284347;37938771;8760827;9563507", "class_list": "", "function": "Data suggest that SNP rs1467465 of human gene icb-1 might affect breast cancer susceptibility. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Icb-1 expression inhibits growth and fulvestrant response of breast cancer cells and affects survival of breast cancer patients., [RefSeq, PubMed]; Identification of ICB-1 as a new player in endocrine-related cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Increased icb-1 mRNA levels could be observed both in monocytic and granulocytic differentiation in maturing HL-60 cells., [RefSeq, PubMed]; Loss of icb-1 expression accelerated proliferation of SK-OV-3, OVCAR-3 and OAW-42 cells and led to upregulation of ovarian cancer biomarkers like KLK10 and CLDN16., [RefSeq, PubMed]; May constitute a control point in macrophage inflammatory response, promoting LPS-induced TLR4-mediated TNF production (PubMed:20644716). Determines the threshold for activation of B cells by low-affinity and low-avidity ligands via PLCG2 activation and its downstream pathways (By similarity)., [UniProtKB, UniProtKB, PubMed]; SNP rs1467465 of the human gene icb-1 might affect susceptibility to ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The novel interferon-gamma inducible gene icb-1 is identified and its effects on the response of ovarian cancer cells to interferon-gamma are described, [RefSeq, PubMed]; Themis2 and Themis1 exhibit the same potential to restore T cell development and T cell receptor-mediated signaling in Themis1-deficient mice., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RTZ3;B4DZT9;B4DZY3;O60560;Q5TEJ1;Q5TEJ9;Q5TEK1;Q68DP4;Q9BYB6;Q9NS90", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006954 inflammatory response;GO:0007155 cell adhesion;GO:0050852 T cell receptor signaling pathway;GO:0050864 regulation of B cell activation", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q5TEJ8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y314-1", "uniprot_id": "NOSIP_HUMAN", "mass": 33172.0, "length": 301, "protein_name": "Nitric oxide synthase-interacting protein", "gene_name": "NOSIP", "organism": "Human", "refseq_name": "nitric oxide synthase-interacting protein isoform 1", "refseq_ac": "NP_001257889", "gene_names_uniprotkb": "NOSIP; CGI-25", "gene_names_refseq": "CGI-25; NOSIP", "protein_names_uniprotkb": "Nitric oxide synthase-interacting protein; 2.3.2.27; E3 ubiquitin-protein ligase NOSIP; RING-type E3 ubiquitin transferase NOSIP; eNOS-interacting protein", "protein_names_refseq": "E3 ubiquitin-protein ligase NOSIP; RING-type E3 ubiquitin transferase NOSIP; eNOS-interacting protein; nitric oxide synthase-interacting protein isoform 1", "tax_id": 9606, "disease": "holoprosencephaly (Disease Ontology:DOID:4621)", "pathway": " (hsa:51070); (R-HSA-203754)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;11149895;11237011;12446846;15548660;16135813;16964243;17287340;17525332;18212344;18669648;19413330;20068231;23186163;23301498;24190977;24275569;24366607;24715725;25576301;25645385;25892735;26154972;26992070;27600516;27846572;27920218;28196663;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632711;29769354;29786170;30315122;31373491;31844290;32157095;32387766;32488085;32502341;32897882;32938616;33141586;33214551;33298915;33592498;33717175;33771575;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;35051231;35561310;36010968;36241641;36690276;37217939;38665916", "class_list": "", "function": "E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye, and the face. Catalyzes monoubiquitination of serine/threonine-protein phosphatase 2A (PP2A) catalytic subunit PPP2CA/PPP2CB (By similarity). Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity (PubMed:11149895, PubMed:15548660, PubMed:16135813)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Endogenous NOSIP reduces the enzymatic capacity of eNOS, specifically in the G(2) phase of the cell cycle by targeting eNOS to the actin cytoskeleton., [RefSeq, PubMed]; Endothelial nitric oxide synthase (eNOS) interacting protein (NOSIP), modulator of eNOS activity by alteration of eNOS subcellular localisation; high expression levels in endothelial cells and vascularized tissue., [RefSeq, PubMed]; NNOS induction and NOSIP interaction impact granulopoiesis and neutrophil differentiation by modulating nitric oxide generation., [RefSeq, PubMed]; The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]., [RefSeq]; Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein., [RefSeq, PubMed]; While NOSIP expression was increased in Hirschsprung's disease (HSCR) vs. non- HSCR patients, no significant difference was observed in patients with Hirschsprung's associated enterocolitis. The increased expression of NOSIP in the aganglionic and ganglionic bowel of HSCR may contribute to the development of enterocolitis by inhibiting local nitric oxide production in patients with Hirschsprung's disease., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q96FD2", "ec_number_list": "1.14.13.39;2.3.2.27", "go_molecular_function": "GO:0003723 RNA binding;GO:0061630 ubiquitin protein ligase activity;GO:0140313 molecular sequestering activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046209 nitric oxide metabolic process;GO:0043086 negative regulation of catalytic activity;GO:0051001 negative regulation of nitric-oxide synthase activity;GO:0045428 regulation of nitric oxide biosynthetic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9Y314-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96HM7-1", "uniprot_id": "PED1B_HUMAN", "mass": 49727.0, "length": 432, "protein_name": "PC-esterase domain-containing protein 1B", "gene_name": "PCED1B", "organism": "Human", "refseq_name": "PC-esterase domain-containing protein 1B", "refseq_ac": "NP_001268358", "gene_names_uniprotkb": "PCED1B; FAM113B", "gene_names_refseq": "FAM113B; PCED1B", "protein_names_uniprotkb": "PC-esterase domain-containing protein 1B; Protein FAM113B", "protein_names_refseq": "PC-esterase domain-containing protein 1B; family with sequence similarity 113, member B", "tax_id": 9606, "disease": "", "pathway": " (hsa:91523)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;28228285;28832583;28904123;29242379;29493099;29557506;30429286;31154438;31844290;32938616;32983136;34185709;35580925", "class_list": "", "function": "This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q96B20", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96HM7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UF12-1", "uniprot_id": "HYPDH_HUMAN", "mass": 50898.0, "length": 460, "protein_name": "Hydroxyproline dehydrogenase", "gene_name": "PRODH2", "organism": "Human", "refseq_name": "hydroxyproline dehydrogenase isoform 1", "refseq_ac": "NP_067055", "gene_names_uniprotkb": "PRODH2; HSPOX1; HYPDH", "gene_names_refseq": "HSPOX1; HYPDH; PRODH2", "protein_names_uniprotkb": "Hydroxyproline dehydrogenase; 1.5.5.2; 1.5.5.3; HYPDH; HsPOX1; Kidney and liver proline oxidase 1; Probable proline dehydrogenase 2; Probable proline oxidase 2", "protein_names_refseq": "hydroxyproline dehydrogenase isoform 1; hydroxyproline dehydrogenase; kidney and liver proline oxidase 1; probable proline dehydrogenase 2; probable proline oxidase 2; proline dehydrogenase (oxidase) 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:58510); (R-HSA-389661); (R-HSA-70688)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10484776;10524214;10777549;10978532;11237011;12865426;12899834;13681368;13681370;14170323;15340920;15662599;15802217;1601857;16616139;1703535;17088322;17669354;18215067;18287100;19352492;20018850;20603179;20877624;2158891;21998747;22516612;2363689;23861960;25697095;25747990;26858947;3416563;3944130;500817;6250440;9163533;9700195;9820813", "class_list": "", "function": "Converts proline to delta-1-pyrroline-5-carboxylate., [UniProtKB, UniProtKB, UniProtKB]; Data suggest that residues 157-515 of PRODH2 contain catalytic core with one FAD molecule; PRODH2 most likely utilizes coenzyme Q10 as terminal electron acceptor in vivo; PRODH2 exhibits substrate specificity for hydroxyproline over proline., [RefSeq, PubMed]; Dehydrogenase that converts trans-4-L-hydroxyproline to delta-1-pyrroline-3-hydroxy-5-carboxylate (Hyp) using ubiquinone-10 as the terminal electron acceptor. Can also use proline as a substrate but with a very much lower efficiency. Does not react with other diastereomers of Hyp: trans-4-D-hydroxyproline and cis-4-L-hydroxyproline. Ubiquininone analogs such as menadione, duroquinone and ubiquinone-1 react more efficiently than oxygen as the terminal electron acceptor during catalysis., [UniProtKB, PubMed]; OH-POX plays a role analogous to POX in growth regulation, ROS generation, and activation of the apoptotic cascade, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; PRODH, but not PRODH2, expression is under the control of p53 family members, specifically p53 and p73. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A0A590UKC3", "ec_number_list": "1.5.5.2;1.5.5.3", "go_molecular_function": "GO:0016645 oxidoreductase activity, acting on the CH-NH group of donors;GO:0071949 FAD binding;GO:0004657 proline dehydrogenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006562 L-proline catabolic process;GO:0010133 L-proline catabolic process to L-glutamate", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9UF12-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P13725-1", "uniprot_id": "ONCM_HUMAN", "mass": 28484.0, "length": 252, "protein_name": "Oncostatin-M", "gene_name": "OSM", "organism": "Human", "refseq_name": "oncostatin-M isoform 1 preproprotein", "refseq_ac": "NP_065391", "gene_names_uniprotkb": "OSM", "gene_names_refseq": "OSM", "protein_names_uniprotkb": "Oncostatin-M; OSM", "protein_names_refseq": "oncostatin-M isoform 1 preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:5008); (R-HSA-6785807); (R-HSA-6788467)", "pathway_count": 3, "publication_count": 136, "publication_id_list": "10023775;10219247;10369418;10510379;10586060;10586089;10812968;10867011;10966616;10997905;11016927;11058569;11084045;11104795;11120780;11237011;11278437;11278729;11356008;11404481;11463377;11834704;11943154;11960372;12223527;12242343;12600988;12601009;12707266;12811586;12832402;14634100;14712222;15116091;15261459;1542792;1542793;15450249;15519241;15584925;15805299;15869882;15950906;16007214;16048438;16051226;16107692;16205632;16236134;16397018;16451196;16510571;16540365;16606674;1717982;17427945;17458857;17572495;18243101;18353781;18447642;18477386;18644974;19124156;19185846;19397496;19920145;2026606;20493732;21102457;21252155;21689689;21715184;21730069;21937440;21994466;22046235;22205702;22383755;22693070;22851691;23086340;23124025;23172665;2325640;23271734;23455323;23555662;23967200;24097101;24743777;25234944;2779549;29242379;32983136;33091337;33392160;35051231;3540948;37476931;38035099;38151020;39532904;7510216;7512451;7529288;7670098;7738033;7795521;7796300;7852997;7862649;7898939;7907877;7957045;8085155;8119965;8272873;8390097;8602263;8621622;8627290;8637716;8663118;8668165;8797861;8816495;8999038;9013879;9188471;9238703;9651359;9723655;9736340;9822675;9874564", "class_list": "", "function": "Exercise-induced crosstalk between immune cells and adipocytes in humans: Role of oncostatin-M., [RefSeq, PubMed]; Functions as a cytokine that uses both type I OSM receptor (heterodimers composed of LIFR and IL6ST) and type II OSM receptor (heterodimers composed of OSMR and IL6ST) (PubMed:10997905, PubMed:39532904, PubMed:8999038). Functionally, regulates many processes including cell proliferation, cell differentiation, cytokine production (PubMed:10997905, PubMed:1542792, PubMed:1542793, PubMed:1717982, PubMed:2779549, PubMed:3540948). Mechanistically, low affinity ligand binding to IL6ST/gp130, induces heterodimerization with LIFR or OSMR, activating JAK tyrosine kinases (JAK1 or JAK2 and to a lesser extent TYK2) bound to their intracellular domains (PubMed:9188471). These kinases subsequently phosphorylate IL6ST/gp130 and LIFR or OSMR (PubMed:8999038). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of STAT3 (PubMed:9188471). The type II OSM complex receptor is also able in addition to STAT3 to recruit STAT5B (PubMed:9188471). Moreover, the type II OSM complex receptor recruits SHC1 through OSMR in a JAK1 mediated phosphotyrosine-dependent manner, leading to SHC1 association with GRB2 and downstream activation of the Ras/Raf/MAPK pathway (PubMed:11016927)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Oncostatin M for characterizing the inflammatory burden and outcome of V-V ECMO in ARDS patients., [RefSeq, PubMed]; Oncostatin M suppresses IL31RA expression in dorsal root ganglia and interleukin-31-induced itching. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the leukemia inhibitory factor/oncostatin-M (LIF/OSM) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a secreted cytokine and growth regulator that inhibits the proliferation of a number of tumor cell lines. This protein also regulates the production of other cytokines, including interleukin 6, granulocyte-colony stimulating factor and granulocyte-macrophage colony stimulating factor in endothelial cells. This gene and the related gene, leukemia inhibitory factor, also present on chromosome 22, may have resulted from the duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 13, "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": "Q6FHP8;Q9UCP6", "ec_number_list": "", "go_molecular_function": "GO:0005147 oncostatin-M receptor binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0038165 oncostatin-M-mediated signaling pathway;GO:0032740 positive regulation of interleukin-17 production;GO:0006955 immune response;GO:0008284 positive regulation of cell population proliferation;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P13725-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60711-1", "uniprot_id": "LPXN_HUMAN", "mass": 43332.0, "length": 386, "protein_name": "Leupaxin", "gene_name": "LPXN", "organism": "Human", "refseq_name": "leupaxin isoform 1", "refseq_ac": "NP_001137467", "gene_names_uniprotkb": "LPXN; LDLP", "gene_names_refseq": "LDPL; LPXN", "protein_names_uniprotkb": "Leupaxin", "protein_names_refseq": "leupaxin isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9404)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10604475;11237011;12674328;15144186;15592455;17329398;17640867;18451096;18497331;20543562;21654843;23481700;24275569;24714562;24715725;25576301;25892735;26154972;26375851;26992070;27600516;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;33141586;33298915;33592498;33691108;33717175;33936100;33968037;34211107;34561969;34932366;35051231;35154160;35580925;36284347;36581221;38159847;40914422;9565592", "class_list": "", "function": "Leupaxin may be a critical nucleating component of the osteoclast podosomal signaling complex, [RefSeq, PubMed]; Paxillin family proteins Hic-5 and LPXN promote lipid storage by regulating the ubiquitination degradation of CIDEC., [RefSeq, PubMed]; The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]., [RefSeq]; Transcriptional coactivator for androgen receptor (AR) and serum response factor (SRF). Contributes to the regulation of cell adhesion, spreading and cell migration and acts as a negative regulator in integrin-mediated cell adhesion events. Suppresses the integrin-induced tyrosine phosphorylation of paxillin (PXN). May play a critical role as an adapter protein in the formation of the adhesion zone in osteoclasts. Negatively regulates B-cell antigen receptor (BCR) signaling., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R8B4;B4DV71;Q53FW6;Q6FI07", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0033628 regulation of cell adhesion mediated by integrin;GO:0006351 DNA-templated transcription;GO:0007155 cell adhesion;GO:0007162 negative regulation of cell adhesion;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "O60711-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5U5X0-1", "uniprot_id": "LYRM7_HUMAN", "mass": 11955.0, "length": 104, "protein_name": "Complex III assembly factor LYRM7", "gene_name": "LYRM7", "organism": "Human", "refseq_name": "complex III assembly factor LYRM7 isoform 1", "refseq_ac": "NP_859056", "gene_names_uniprotkb": "LYRM7; C5orf31; MZM1L", "gene_names_refseq": "C5orf31; LYRM7; MC3DN8; MZM1L", "protein_names_uniprotkb": "Complex III assembly factor LYRM7; LYR motif-containing protein 7", "protein_names_refseq": "LYR motif-containing protein 7; Lyrm7 homolog; complex III assembly factor LYRM7 isoform 1; complex III assembly factor LYRM7", "tax_id": 9606, "disease": "mitochondrial complex III deficiency nuclear type 8 (Disease Ontology:DOID:0080117); mitochondrial complex III deficiency (Disease Ontology:DOID:0111139); lactic acidosis (Disease Ontology:DOID:3650)", "pathway": " (hsa:90624); (R-HSA-9865881)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "11237011;19240061;20877624;21278747;23168492;23186163;23301498;23481700;24014394;24385928;25008109;25418920;25605331;26154972;26811146;26929215;26992070;28218747;28380382;28510447;28673544;28844695;29243944;29393594;29437277;31844290;32157095;32265295;32387766;32929120;33592498;34357683;34932366;34969438;35132862;38104742", "class_list": "", "function": "Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]., [RefSeq]; LYRM7/MZM1L is a novel disease gene, causing cIII-defective, early onset, severe mitochondrial encephalopathy., [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]; TNF-alpha induced NF-kappaB mediated LYRM7 expression modulates the tumor growth and metastatic ability in breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MPQ9;Q86Y68", "ec_number_list": "", "go_molecular_function": "GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0034551 mitochondrial respiratory chain complex III assembly;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q5U5X0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q04721-1", "uniprot_id": "NOTC2_HUMAN", "mass": 265405.0, "length": 2471, "protein_name": "Neurogenic locus notch homolog protein 2", "gene_name": "NOTCH2", "organism": "Human", "refseq_name": "neurogenic locus notch homolog protein 2 isoform 2 precursor", "refseq_ac": "NP_001186930", "gene_names_uniprotkb": "NOTCH2", "gene_names_refseq": "AGS2; HJCYS; NOTCH2; hN2", "protein_names_uniprotkb": "Neurogenic locus notch homolog protein 2; Notch 2; hN2", "protein_names_refseq": "Notch homolog 2; neurogenic locus notch homolog protein 2 isoform 2 precursor; notch 2", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); brain cancer (Disease Ontology:DOID:1319); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); Hajdu-Cheney syndrome (Disease Ontology:DOID:2736); adenocarcinoma (Disease Ontology:DOID:299); central nervous system cancer (Disease Ontology:DOID:3620); Alagille syndrome (Disease Ontology:DOID:9245); colorectal cancer (Disease Ontology:DOID:9256); multiple myeloma (Disease Ontology:DOID:9538); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4853); (R-HSA-1912399); (R-HSA-1912408); (R-HSA-1912420); (R-HSA-2197563); (R-HSA-2979096); (R-HSA-350054); (R-HSA-5083630); (R-HSA-9013695); (R-HSA-9976102)", "pathway_count": 10, "publication_count": 230, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10075724;10079256;10206645;10366590;10459009;10545110;10551863;10669757;10713164;10734111;10934472;10935626;10935637;10958687;11101851;11112321;11135303;11171333;11237011;11518718;11524432;11530204;11577080;11707585;11740940;11823422;11861489;11866432;11986231;12049766;12050117;12209127;12370315;12374742;12486116;12530964;12794074;1295745;1303260;14567914;14672936;14991602;15302935;15472075;15531924;15546612;15569487;15684396;15692013;15760269;15824097;15829515;16093323;16385447;16530045;16612405;16751179;16773578;17003037;17081983;17157496;17284587;17344417;17401372;17540598;17540599;17554337;17573339;1764995;17685488;17823410;18043734;18077452;18239137;18243100;18299578;1831692;18347015;1840698;18418349;18452278;18469519;18669648;18724371;18767875;19150886;19690332;19691289;19701457;19714243;19723635;19773441;20058876;20068231;20080834;20090754;20156974;20170518;20197277;20351093;20442293;20442780;20495621;20801121;20804727;20805998;21097675;21280156;21378985;21378989;21402699;21464368;21490058;21551231;21602795;21632553;21681853;21712856;21793104;21875955;22110129;22658935;22658936;23090970;23186163;23389697;23584533;24190977;24842903;25502872;25576301;25880248;25892735;25985737;26387946;26768311;26801977;26977885;26992070;27726376;28228285;28467828;28649982;28657654;28832583;29101237;29146722;29149593;29242379;29249144;29314611;29329397;29393594;29557506;29632711;29741879;29769354;29856954;29856955;30315122;30429286;30459171;31492838;3153318;31844290;31848261;32157095;32161166;32162841;32350084;32357974;32387766;32488085;32574038;32938616;32938750;32954300;32983136;33298915;33392160;33592498;33912179;33968037;33981976;34019948;34078123;34087483;34357683;34411563;34433824;34509645;34846842;35051231;35154160;35254053;35289036;35561310;35580925;36010968;36215666;37340703;38462037;38577711;38665916;38973459;39121977;39202394;39302247;39531497;40136647;41350704;7918097;803282;8293978;8681805;8878478;9187150;9207787;9207788;9207795;9244302;9384573;9604939;9620803;9651681;9653148;9693032;9727485", "class_list": "", "function": "Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus (PubMed:21378985, PubMed:21378989). Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation (PubMed:29149593). Positively regulates self-renewal of liver cancer cells (PubMed:25985737)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; High expression of NOTCH2 in gastric adenocarcinoma: A novel early diagnostic target., [RefSeq, PubMed]; KLF13 restrains Dll4-muscular Notch2 axis to improve the muscle atrophy., [RefSeq, PubMed]; LRP1 induces anti-PD-1 resistance by modulating the DLL4-NOTCH2-CCL2 axis and redirecting M2-like macrophage polarisation in bladder cancer., [RefSeq, PubMed]; The MEF2A/SNHG16/miR-425-5p/NOTCH2 axis induces gemcitabine resistance by inhibiting ferroptosis in the starving bladder tumor microenvironment., [RefSeq, PubMed]; This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 2, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 23, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 218, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 14, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "Q5T3X7;Q99734;Q9H240", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0019899 enzyme binding;GO:0005509 calcium ion binding;GO:0051059 NF-kappaB binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0071228 cellular response to tumor cell;GO:0006351 DNA-templated transcription;GO:0007219 Notch signaling pathway;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 25.7, "record_id": "Q04721-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99570-1", "uniprot_id": "PI3R4_HUMAN", "mass": 153103.0, "length": 1358, "protein_name": "Phosphoinositide 3-kinase regulatory subunit 4", "gene_name": "PIK3R4", "organism": "Human", "refseq_name": "phosphoinositide 3-kinase regulatory subunit 4", "refseq_ac": "NP_055417", "gene_names_uniprotkb": "PIK3R4; VPS15", "gene_names_refseq": "PIK3R4; VPS15; p150", "protein_names_uniprotkb": "Phosphoinositide 3-kinase regulatory subunit 4; 2.7.11.1; PI3-kinase p150 subunit; PI3-kinase regulatory subunit 4; Phosphoinositide 3-kinase adaptor protein", "protein_names_refseq": "PI3-kinase p150 subunit; PI3-kinase regulatory subunit 4; phosphatidylinositol 3-kinase-associated p150; phosphoinositide 3-kinase adaptor protein; phosphoinositide 3-kinase regulatory subunit 4; phosphoinositide-3-kinase, regulatory subunit 4, p150", "tax_id": 9606, "disease": "", "pathway": " (hsa:30849); (R-HSA-109704); (R-HSA-1632852); (R-HSA-1660514); (R-HSA-1660516); (R-HSA-1660517); (R-HSA-168138); (R-HSA-5668599); (R-HSA-9679504); (R-HSA-9694676); (R-HSA-9705671); (R-HSA-983170); (R-HSA-9920951)", "pathway_count": 13, "publication_count": 314, "publication_id_list": "10064069;10072071;10101268;10400704;10419465;10455184;10559940;10567352;10600378;10764818;10766823;10777614;10805725;10806194;10825291;10982397;11027663;11090627;11096062;11145705;11160214;11163199;11237011;11279162;11302699;11514579;11706043;11716755;11733541;11825910;11923287;12019269;12056906;12270933;12324459;12436109;12436110;12645939;12660731;12692549;12716910;12759408;12847286;12890864;1381348;14527956;14530365;14617358;14659893;14660569;14681859;14718384;14722070;14751759;15187094;15207506;15208624;15286279;15331731;15591124;15716355;15824103;15927284;16329988;16465444;16473882;16507994;1655747;1660188;16636067;16762923;16778989;16787938;16847462;16959974;16963840;17056546;17088086;17316621;17344846;17555535;17556371;17583407;17618624;17651088;17656363;17878374;18321988;18347018;18439900;18524850;18669648;18691976;18820679;18950639;19119025;19193869;19211563;19211835;19261456;19270696;19322194;19342655;19361863;19369195;19372727;19426129;19438505;19575639;19590496;19664994;19668216;19748539;19805105;19851281;19855179;19898463;20059746;20068231;2038058;20605430;20643123;20713597;20813901;20921139;20956805;21050182;21081650;21177865;21205641;21239714;21258367;21383122;21460621;21604257;21799305;21819378;21827948;22170151;22682742;22808130;22941947;23186163;23202584;23289851;23481700;23685627;23727157;23818870;23875749;23878393;23884233;23980663;24342772;2450918;24747438;24785657;24855048;24954904;24973451;25135833;25255805;25418920;25484072;25568151;25576301;25645385;25869668;25877926;25880248;26154972;26496610;26992070;27108190;27558335;27600516;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29317506;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30484775;30779550;30833945;31020640;31092671;31154438;31217245;31231549;31530632;31844290;31848261;31850239;31998317;32157095;32161166;32350084;32353859;32357974;32387766;32428392;32488085;32502341;32589897;32726803;32728199;32897882;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33633747;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33963333;33968037;33981976;33989516;33990585;34021074;34054808;34084167;34087483;34110168;34121209;34166398;34171305;34185709;34211107;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34932366;35051231;35102342;35154160;35318648;35561310;35580925;35643212;36010968;36215666;36241641;36284347;36310878;37051252;37938771;38253038;7543144;7608176;7628435;7642652;7761412;7876241;8089108;8342042;8634694;8999962;9148941;9295334;9405935;9516481;9605141;9804763;9878262", "class_list": "", "function": "Phosphoproteomic identification of ULK substrates reveals VPS15-dependent ULK/VPS34 interplay in the regulation of autophagy., [RefSeq, PubMed]; Regulatory subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123)., [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": 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": 18, "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": "Q2TBF4", "ec_number_list": "2.7.11.1;2.7.1.153;2.7.1.137;2.7.1.154;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;2.7.10.1;2.3.1.-;2.7.11.26;2.7.11.31;3.1.3.48;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;3.6.5.2", "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0071561 nucleus-vacuole junction;GO:0005829 cytosol;GO:0016020 membrane;GO:0030670 phagocytic vesicle membrane;GO:0005770 late endosome", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process;GO:0006468 protein phosphorylation;GO:0010506 regulation of autophagy;GO:0016236 macroautophagy", "synthesized_glycan_count": 0, "hit_score": 32.0, "record_id": "Q99570-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NS91-1", "uniprot_id": "RAD18_HUMAN", "mass": 56223.0, "length": 495, "protein_name": "E3 ubiquitin-protein ligase RAD18", "gene_name": "RAD18", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RAD18", "refseq_ac": "NP_064550", "gene_names_uniprotkb": "RAD18; RNF73", "gene_names_refseq": "RAD18; RNF73", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RAD18; 2.3.2.27; Postreplication repair protein RAD18; RING finger protein 73; RING-type E3 ubiquitin transferase RAD18; hHR18; hRAD18", "protein_names_refseq": "E3 ubiquitin-protein ligase RAD18; RAD18 homolog; RAD18, S. cerevisiae, homolog; RING finger protein 73; RING-type E3 ubiquitin transferase RAD18; hHR18; postreplication repair protein RAD18; postreplication repair protein hRAD18p", "tax_id": 9606, "disease": "", "pathway": " (hsa:56852); (R-HSA-110314); (R-HSA-8866654)", "pathway_count": 3, "publication_count": 140, "publication_id_list": "10.1101/2023.09.13.557529;10562279;10884424;10908344;11237011;11740563;12016221;12226657;12856420;15215855;15215856;15632077;15916957;16307923;16531995;16565220;16868077;16964243;17081983;17108083;17130289;17322306;17525332;17624554;17720710;17726030;18212344;18220336;18316726;18342608;18359941;18452278;18669648;18719106;18767875;19007248;19208625;19410543;19413330;19651622;19664994;19664995;19690332;19691289;19723507;20068231;20129063;21098111;21203937;21329877;21396873;21406692;21549715;21554508;21659603;22021426;22036607;22456510;22681887;22742833;23000965;23186163;23301498;23481700;24662292;24714562;24715725;24768535;24807418;24979766;25030448;25170678;25218447;25418920;25576301;25880248;25931565;25936802;26086376;26154972;26210183;26216882;26344566;26350214;26375851;26711259;26728094;26758079;26929215;26992070;27569044;27597759;27600516;27798111;27846572;27920218;28228285;28411811;28832583;28834231;28904123;29242379;29508533;29557506;29632711;29769354;30315122;30379171;31844290;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33717175;33968037;34171305;34185709;34211107;34357683;35051231;35251023;35580925;35849344;36010968;36480547;36581221;36634340;38073330;38719812;40596516;8625414;8991089", "class_list": "", "function": "Action at DNA replication forks, [RefSeq, PubMed]; E3 ubiquitin-protein ligase involved in postreplication repair of UV-damaged DNA. Postreplication repair functions in gap-filling of a daughter strand on replication of damaged DNA. Associates to the E2 ubiquitin conjugating enzyme UBE2B to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono-ubiquitination of DNA-associated PCNA on 'Lys-164'. Has ssDNA binding activity., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; HRad18 is a novel interacting partner of HIV-1 integrase; role for post-replication/translesion DNA repair in the retroviral integration process., [RefSeq, PubMed]; Implication of E3 ligase RAD18 in UV-induced mutagenesis in human induced pluripotent stem cells and neuronal progenitor cells., [RefSeq, PubMed]; RAD18 opposes transcription-associated genome instability through FANCD2 recruitment. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif. Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription Factor E2F7 Hampers the Killing Effect of NK Cells against Colorectal Cancer Cells via Activating RAD18 Transcription., [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": 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": 17, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 26, "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": "Q58F55;Q9NRT6", "ec_number_list": "2.7.7.7;3.1.11.-;2.3.2.23;2.3.2.27;2.3.2.32;3.6.4.-", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0042802 identical protein binding;GO:0003684 damaged DNA binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0016607 nuclear speck;GO:0016604 nuclear body", "go_biological_process": "GO:0051984 positive regulation of chromosome segregation;GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0051865 protein autoubiquitination;GO:0006301 DNA damage tolerance", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q9NS91-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P57740-1", "uniprot_id": "NU107_HUMAN", "mass": 106374.0, "length": 925, "protein_name": "Nuclear pore complex protein Nup107", "gene_name": "NUP107", "organism": "Human", "refseq_name": "nuclear pore complex protein Nup107 isoform 2", "refseq_ac": "NP_001317121", "gene_names_uniprotkb": "NUP107", "gene_names_refseq": "GAMOS7; NPHS11; NUP107; NUP84; ODG6", "protein_names_uniprotkb": "Nuclear pore complex protein Nup107; 107 kDa nucleoporin; Nucleoporin Nup107", "protein_names_refseq": "nuclear pore complex protein Nup107 isoform 2; nuclear pore complex protein Nup107; nucleoporin 107kDa", "tax_id": 9606, "disease": "Galloway-Mowat syndrome 7 (Disease Ontology:DOID:0061290); nephrotic syndrome type 11 (Disease Ontology:DOID:0080385); ovarian dysgenesis 6 (Disease Ontology:DOID:0080498); Galloway-Mowat syndrome (Disease Ontology:DOID:0080694); 46 XX gonadal dysgenesis (Disease Ontology:DOID:14450)", "pathway": " (hsa:57122); (R-HSA-1169408); (R-HSA-141430); (R-HSA-141444); (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-2467813); (R-HSA-2500257); (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-5663220); (R-HSA-6784531); (R-HSA-68877); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9648025); (R-HSA-9705671)", "pathway_count": 39, "publication_count": 605, "publication_id_list": "10.1101/2023.09.13.557529;10205180;10228171;10323864;10411507;10444065;10489353;10526235;10531003;10556282;10574707;10600384;10601273;10601333;10668806;10678165;10725331;10759568;10827188;10846107;10851237;10862613;10911995;10920397;10954706;10958683;11014198;11073998;11081627;11095724;11112487;11118210;11124902;11157743;11181178;11231159;11231581;11237011;11256625;11259411;11259602;11289803;11333016;11371342;11451485;11455963;11502751;11509732;11514627;11535616;11564755;11579093;11684705;11709553;11714716;11727826;11739738;11747420;11748230;11756420;11788588;11792325;11804586;11836381;11871657;11889051;11909533;11932251;11960997;12003494;12006501;12019269;12027805;12032081;12065586;12072510;12093754;12095920;12121577;12138183;12149243;12194817;12196509;12228227;12393906;12429848;12441251;12525615;12526808;12552102;12577064;12582176;12589057;12679384;12692549;12711671;12729736;12732141;12747803;12759408;12776181;12802065;12805219;12832072;12852857;12853476;12857923;12917326;12974469;14516784;14578449;14627435;14701874;14730319;15006353;15082759;15085137;15109492;15120988;15131269;15161980;15175327;15199155;15208624;15229283;1531330;15317868;15339662;15355988;15364926;15378033;15485925;15507212;15574331;15592428;15608651;15702989;15723797;15731250;15737063;15802566;15823533;15829507;15831457;15864301;15866170;1586970;15931174;15940266;15944396;15959518;15989970;16009940;16030353;16112642;16122702;16139798;16140760;16194093;16278218;16292343;16314397;16352599;16361254;16407192;16428300;16439214;16478998;16541025;16565220;16608850;16608852;16622419;16622420;16626738;16682347;16688858;16699525;16710424;16715065;16775314;16810316;16815975;16872604;16890222;16914094;16933365;16943183;16964243;17000901;17018294;17030981;17081640;17081983;17098863;17112726;17113138;17129783;17132145;17183683;17196341;17198702;17204286;17224653;17235358;17289916;17317185;1737036;17376915;17412958;17525332;1754405;17690096;17693435;17697703;17698605;17705785;17924679;18001770;18077418;18097444;18203656;18226598;18235501;18235502;18287095;18305167;18316408;18364396;18381449;18394993;18408014;18411249;18423201;18535146;18550409;18583345;18625722;18628979;18669648;18691969;18691976;18708356;18716626;18767875;18809514;18923426;18946085;18984158;19007248;19073728;19125153;19229036;19270716;19287951;19350017;19413330;19415658;1944575;19494120;19596686;19622798;19640981;19651622;19664994;19664995;19682613;19690332;19691289;19696148;19706679;19779455;19815554;1985200;19914676;19956565;19965387;20016594;20016603;20030946;20068231;20098713;20101212;20129943;20133869;2017161;2017166;20190268;20219937;20300531;20308324;20351170;20385878;20417598;20591975;20630994;20663916;20705237;20797632;20797634;20953181;20972456;20974814;21098080;21111234;21147198;21148482;21167178;21284855;21311021;21335236;21397845;21450806;21550342;21554500;21559454;21576392;21593607;21647297;21690215;21868368;21872626;21878504;21987589;21993680;22094460;22121020;22174689;22275430;22402492;22424782;22457066;22464730;22465953;22493095;22508508;22541429;22608513;22635276;22645359;22661230;22732409;22735644;22751501;22790947;22825850;22885700;22893130;22940245;22941947;22944664;23092970;23186163;23222643;23299939;23349863;23481700;23582887;23750026;23801653;23804756;23826332;23871147;24002598;24027577;24068740;24129315;24366607;24369422;2470644;24714562;24715725;24782567;24870230;24914801;25114211;25218447;25391492;25418920;25576301;25602437;25640237;25645385;25704882;25723178;25740311;25789526;25802875;25849199;25880248;26024233;26154972;26375851;26411495;26485283;26572645;26728094;26758079;26929215;26992070;27068747;27501258;27600516;27846572;27862975;27920218;28117080;28218747;28228285;28280135;28415052;28832583;28834231;28904123;29237092;29242379;29331515;29363275;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30059200;30179222;30315122;30355688;30360396;30379171;30397120;30410026;30429286;30484775;30524438;30761409;30779550;30833945;31092671;31154438;31217245;31222486;31409757;31492838;31530632;31844290;31848261;31850239;31937595;31998317;32119511;32157095;32161166;32265295;32353859;32357974;32387766;32428392;32488085;32502341;32574038;32589897;32726803;32728199;32897882;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33214551;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33465208;33479219;33495715;33514628;33537174;33567255;33592498;33630763;33633747;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34087483;34093574;34110168;34166398;34171305;34185709;34211107;34239064;34260926;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34561969;34597346;34707299;34725712;34932366;35051231;35102342;35132862;35254053;35289036;35318648;35513511;35561310;35580925;35643212;35705054;36010968;36215666;36241641;36284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"class_list": "", "function": "Functions as a component of the nuclear pore complex (NPC)., [UniProtKB, UniProtKB]; Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:12552102, PubMed:15229283). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Whole exome sequencing identified a novel and rare missense variant in the NUP107 gene (c.1063C>T, p.R355C) in both sisters with HH., [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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B4DZ67;Q6PJE1", "ec_number_list": "", "go_molecular_function": "GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0031080 nuclear pore outer ring;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0072006 nephron development;GO:0006406 mRNA export from nucleus;GO:0006913 nucleocytoplasmic transport;GO:0008585 female gonad development;GO:0051292 nuclear pore complex assembly", "synthesized_glycan_count": 0, "hit_score": 61.6, "record_id": "P57740-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y278-1", "uniprot_id": "HS3S2_HUMAN", "mass": 41501.0, "length": 367, "protein_name": "Heparan sulfate glucosamine 3-O-sulfotransferase 2", "gene_name": "HS3ST2", "organism": "Human", "refseq_name": "heparan sulfate glucosamine 3-O-sulfotransferase 2", "refseq_ac": "NP_006034", "gene_names_uniprotkb": "HS3ST2; 3OST2; PRO5004", "gene_names_refseq": "30ST2; 3OST2; HS3ST2", "protein_names_uniprotkb": "Heparan sulfate glucosamine 3-O-sulfotransferase 2; 2.8.2.29; 3-OST-2; Heparan sulfate 3-O-sulfotransferase 2; Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 2; h3-OST-2", "protein_names_refseq": "3-OST-2; h3-OST-2; heparan sulfate (glucosamine) 3-O-sulfotransferase 2; heparan sulfate 3-O-sulfotransferase 2; heparan sulfate D-glucosaminyl 3-O-sulfotransferase 2; heparan sulfate glucosamine 3-O-sulfotransferase 2; heparin-glucosamine 3-O-sulfotransferase", "tax_id": 9606, "disease": "lung cancer (Disease Ontology:DOID:1324); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:9956); (R-HSA-2022928)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10318803;10639137;10644753;10677367;10716625;11087757;11169766;11237011;11274177;11279150;11390981;12138164;12492399;12527896;12975309;15082721;15607426;16343444;20554947;21700882;24715725;27543614;28132690;28148688;29557506;29660372;30221668;30315122;30429286;30471091;31154438;31407253;31844290;31903950;32157095;32938616;33159882;35051231;35676258;35760982;7601448;9346953;9463333;9535912;9915799;9988767;9988768", "class_list": "glycogene", "function": "CpG Islands Methylation Analysis of CDH11, EphA5, and HS3ST2 Genes in Gastric Adenocarcinoma Patients., [RefSeq, PubMed]; HS3ST2 expression induces the cell autonomous aggregation of tau. Publication Status: Online-Only, [RefSeq, PubMed]; Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity. This gene is expressed predominantly in brain and may play a role in the nervous system. [provided by RefSeq, Jul 2008]., [RefSeq]; Hsa-miR-194-5p might be involved in the pathogenesis of atopic dermatitis by regulating HS3ST2 expression., [RefSeq, PubMed]; In primary macrophages, HS3ST2 was clearly visualized at the plasma membrane. Its truncated form remained in the Golgi apparatus, meaning that the catalytic domain might support correct addressing of HS3ST2 to cell surface. HS3ST2 partly co-localized with syndecan-2 in HeLa cells and primary macrophages suggesting that this enzyme may participate in discrete processes that occur at the cell surface., [RefSeq, PubMed]; Methylation status of KLF4 and HS3ST2 genes as predictors of endometrial cancer and hyperplastic endometrial lesio, [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate (PubMed:9988768). Catalyzes the O-sulfation of glucosamine in GlcA2S-GlcNS (PubMed:9988768). Unlike HS3ST1/3-OST-1, does not convert non-anticoagulant heparan sulfate to anticoagulant heparan sulfate (PubMed:9988768)., [UniProtKB, PubMed]; These results showed that silencing of 3-OST-2 was present in a wide range of human cancersFrom the high incidence, silencing of the 3-OST-2 gene is expected to have high diagnostic, and potentially therapeutic, values., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 450, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q52LZ1", "ec_number_list": "2.8.2.23;2.8.2.-;2.8.2.29;2.8.2.30", "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0008467 [heparan sulfate]-glucosamine 3-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006024 glycosaminoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9Y278-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P20700-1", "uniprot_id": "LMNB1_HUMAN", "mass": 66408.0, "length": 586, "protein_name": "Lamin-B1", "gene_name": "LMNB1", "organism": "Human", "refseq_name": "lamin-B1 isoform 1", "refseq_ac": "NP_005564", "gene_names_uniprotkb": "LMNB1; LMN2; LMNB", "gene_names_refseq": "ADLD; LMN2; LMNB1; LMNB; LMN; MCPH26", "protein_names_uniprotkb": "Lamin-B1", "protein_names_refseq": "lamin-B1 isoform 1", "tax_id": 9606, "disease": "congenital muscular dystrophy (Disease Ontology:DOID:0050557); atypical autosomal dominant adult-onset demyelinating leukodystrophy (Disease Ontology:DOID:0051014); adult onset demyelinating leukodystrophy (Disease Ontology:DOID:0051015); autosomal dominant primary microcephaly 26 (Disease Ontology:DOID:0051037); typical adult-onset autosomal dominant demyelinating leukodystrophy (Disease Ontology:DOID:0060785); familial partial lipodystrophy type 2 (Disease Ontology:DOID:0070202); autosomal dominant Emery-Dreifuss muscular dystrophy 2 (Disease Ontology:DOID:0070247); autosomal recessive Emery-Dreifuss muscular dystrophy 3 (Disease Ontology:DOID:0070248); dilated cardiomyopathy 1A (Disease Ontology:DOID:0110425); congenital muscular dystrophy due to LMNA mutation (Disease Ontology:DOID:0110640); Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726); progeria (Disease Ontology:DOID:3911); myopathy (Disease Ontology:DOID:423); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:4001); (R-HSA-1221632); (R-HSA-2559584); (R-HSA-2980766); (R-HSA-2995383); (R-HSA-352238); (R-HSA-4419969); (R-HSA-8862803); (R-HSA-8950505); (R-HSA-9013405); (R-HSA-9035034)", "pathway_count": 11, "publication_count": 255, "publication_id_list": "10.1101/2023.09.13.557529;10604467;10639123;10830966;10908652;11237011;11285238;11673449;11784792;11792822;11853546;12493765;12577064;14654843;15125634;15235794;15546916;15590058;15621527;15655109;15681850;15889145;16038020;16083285;16339967;16371512;16495336;16565220;16704422;16777452;16861033;16901784;16951681;16964243;17064668;17081983;17158099;17158953;17170708;17242198;17242207;17287340;17377532;17420445;17765681;17916560;18445618;18628300;18669648;18691386;18691976;18694939;18767875;19007248;19029251;19146767;19413330;19415658;19494125;19494126;19608861;19620630;19651622;19664994;19664995;19690332;19691289;20058876;20068230;20068231;20233848;20576617;20634189;20711181;20876142;21081492;21119010;21406692;21413788;21605113;21795390;21807893;21872626;2188730;2188731;21993680;22121020;22134922;22223895;22265972;22424782;22544926;22665057;22770216;22899714;22967762;22986494;23087206;23096567;23186163;2325650;2344612;23481700;23964094;24102721;24129315;24275569;24366607;24686783;24714562;24715725;25114211;25218447;25418920;25505266;25576301;25668492;25746724;25755297;25775403;25802875;25810538;25880248;26154972;26237509;26375851;26728094;26768311;26811146;2684976;26992070;27278019;27452731;27481945;27600516;27846572;27852748;27862975;27875273;27920218;28218747;28228285;28411811;28486133;28510447;28542436;28649982;28716252;28832583;28834231;28855257;28904123;28939839;28947137;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29776664;29786170;30315122;30379171;30410026;30429286;30444036;30484775;30524438;30779550;31154438;31217245;31530632;31844290;31848261;31871319;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32910914;32938616;32983136;33033404;33043033;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33706103;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34725712;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38265511;38517565;38665916;38870534;39078102;39103492;39894887;40596516;40914422;7557986;7698360;7937898;8034666;8463284;8655646;8663580;8794855;8945468;8978814;9008167;9228946;9285814;9465049", "class_list": "", "function": "ENPP1 inhibits the transcription activity of the hepatitis B virus pregenomic promoter by upregulating the acetylation of LMNB1. Publication Status: Online-Only, [RefSeq, PubMed]; Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane. Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; PQBP3 prevents senescence by suppressing PSME3-mediated proteasomal Lamin B1 degradation., [RefSeq, PubMed]; SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction., [RefSeq, PubMed]; This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; WTAP-mediated N6-methyladenosine modification promotes the inflammation, mitochondrial damage and ferroptosis of kidney tubular epithelial cells in acute kidney injury by regulating LMNB1 expression and activating NF-kappaB and JAK2/STAT3 pathways., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 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": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 14, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R6J6;Q3SYN7;Q96EI6", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0043274 phospholipase binding;GO:1990837 sequence-specific double-stranded DNA binding;GO:0160123 structural constituent of nuclear lamina", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0031965 nuclear membrane", "go_biological_process": "GO:0090435 protein localization to nuclear envelope;GO:0006998 nuclear envelope organization;GO:0031507 heterochromatin formation;GO:0007097 nuclear migration;GO:0051664 nuclear pore localization", "synthesized_glycan_count": 0, "hit_score": 26.3, "record_id": "P20700-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WVS4-1", "uniprot_id": "DC2I1_HUMAN", "mass": 122571.0, "length": 1066, "protein_name": "Cytoplasmic dynein 2 intermediate chain 1", "gene_name": "DYNC2I1", "organism": "Human", "refseq_name": "cytoplasmic dynein 2 intermediate chain 1 isoform a", "refseq_ac": "NP_060521", "gene_names_uniprotkb": "DYNC2I1; WDR60", "gene_names_refseq": "CFAP163; DIC6; DYNC2I1; FAP163; SRPS6; SRTD8; WDR60", "protein_names_uniprotkb": "Cytoplasmic dynein 2 intermediate chain 1; Dynein 2 intermediate chain 1; WD repeat-containing protein 60", "protein_names_refseq": "WD repeat domain 60; WD repeat-containing protein 60; cytoplasmic dynein 2 intermediate chain 1 isoform a; cytoplasmic dynein 2 intermediate chain 1; testicular secretory protein Li 66", "tax_id": 9606, "disease": "short-rib thoracic dysplasia 8 with or without polydactyly (Disease Ontology:DOID:0110094)", "pathway": " (hsa:55112); (R-HSA-5620924)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10069812;11237011;11285270;12795688;15231740;15269286;15489852;15523559;15955805;16049494;16435301;16492809;16775004;16782012;17312020;17314406;17574030;18180368;18304522;18364699;18369462;18669648;18852297;19112494;19147001;19253336;19384852;19450523;19720863;19805633;20435895;20526327;20526328;20530210;20889716;21427764;21936775;22118932;22922713;22992454;23186163;23910462;23945166;23990561;24140113;24296415;24596149;24616010;25205765;25349261;25443296;25492405;25576301;25645385;25880248;26044572;26375851;26992070;27920218;28832583;29393594;29632711;29742051;29786170;30315122;30320547;30379171;30429286;30649997;31092671;31451806;31844290;32157095;32502341;32938616;33392160;33592498;33968037;34171305;35051231;36215666;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system (PubMed:23910462, PubMed:25205765, PubMed:29742051, PubMed:31451806). DYNC2I1 plays a major role in retrograde ciliary protein trafficking in cilia and flagella (PubMed:29742051, PubMed:30320547, PubMed:30649997). Also requires to maintain a functional transition zone (PubMed:30320547)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis., [RefSeq, PubMed]; This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NW58", "ec_number_list": "", "go_molecular_function": "GO:0045503 dynein light chain binding;GO:0045504 dynein heavy chain binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005813 centrosome;GO:0005929 cilium;GO:0001673 male germ cell nucleus;GO:0005868 cytoplasmic dynein complex", "go_biological_process": "GO:0060271 cilium assembly;GO:0048704 embryonic skeletal system morphogenesis;GO:0035721 intraciliary retrograde transport;GO:0042073 intraciliary transport", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q8WVS4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q12905-1", "uniprot_id": "ILF2_HUMAN", "mass": 43062.0, "length": 390, "protein_name": "Interleukin enhancer-binding factor 2", "gene_name": "ILF2", "organism": "Human", "refseq_name": "interleukin enhancer-binding factor 2 isoform 2", "refseq_ac": "NP_001254738", "gene_names_uniprotkb": "ILF2; NF45; PRO3063", "gene_names_refseq": "ILF2; NF45; PRO3063", "protein_names_uniprotkb": "Interleukin enhancer-binding factor 2; Nuclear factor of activated T-cells 45 kDa", "protein_names_refseq": "interleukin enhancer binding factor 2, 45kDa; interleukin enhancer-binding factor 2 isoform 2; nuclear factor of activated T-cells, 45-kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:3608); (R-HSA-6798695); (R-HSA-9833482)", "pathway_count": 3, "publication_count": 254, "publication_id_list": "10.1101/2023.09.13.557529;10082513;10348343;10400669;10574923;10620360;10626894;10648614;10848580;10866685;11096080;11134010;11152499;11156368;11237011;11238103;11238927;11278865;11313968;11337501;11350938;11438540;11500375;11739746;11781817;11790298;11909525;11939789;11985496;12231563;12397061;12429849;12882984;1373135;14585331;15229216;15299030;15737233;15752359;15907845;16179258;16179259;16373505;16431927;16600570;16717090;1695551;16982605;17079286;17196820;17289661;17525332;17890166;18077418;18096616;18458058;18835251;18957415;19229320;19416861;19710021;19733181;19804757;19838063;20395957;20519500;20685959;21072047;21123651;21294215;21518807;21636578;21937648;21978664;21994559;22214662;22424782;2247437;22898188;22986343;23084476;23186163;23229543;23481700;23650620;23732991;24129315;24347309;24366607;24623135;24659800;24714562;24715725;24753571;25418920;25505266;25576301;25645385;25653431;25848059;25892735;26024233;26154972;26375851;26432638;26446704;26488609;26716879;26728094;26768311;26811146;26817845;26891316;26992070;27208315;27269119;27423063;27600516;27846572;27974558;28069888;28167698;28218747;28228285;28281686;28446606;28510447;28765891;28832583;28834231;28855257;28904123;29170442;29175459;29231267;29242379;29348664;29393594;29394925;29395325;29437277;29440070;29493099;29501855;29508533;29557506;29632711;29769354;29786170;29789417;30174290;30315122;30410026;30429286;30484775;30524438;30770398;30779550;30833945;31031002;31154438;31212927;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32093270;32119511;32157095;32161166;32357974;32387766;32433969;32488085;32502341;32716602;32801355;32897882;32938616;32983136;33009960;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33808629;33911136;33912179;33936100;33968037;33981976;34019948;34087483;34153299;34171305;34174402;34211107;34357683;34405274;34509645;34561969;34725712;34932366;34974812;35008409;35051231;35145187;35318648;35333683;35580925;35685460;35947956;36010968;36215666;36241641;36284347;36712380;37047232;37127961;37938771;38622522;39395807;40914422;7491766;7515177;7519613;7545299;7565688;7693978;7737357;7903669;8576172;8576179;8661426;8692836;8810342;8910500;9034343;9079663;9442054;9521856;9528799;9687506;9737981;9819388;9920933", "class_list": "", "function": "(Microbial infection) Plays a positive role in HIV-1 virus production by binding to and thereby stabilizing HIV-1 RNA, together with ILF3., [UniProtKB, PubMed]; CRNDE-h transcript/miR-136-5p axis regulates interleukin enhancer binding factor 2 expression to promote hepatocellular carcinoma cell proliferation., [RefSeq, PubMed]; Chromatin-interacting protein that forms a stable heterodimer with interleukin enhancer-binding factor 3/ILF3 and plays a role in several biological processes including transcription, innate immunity or cell growth (PubMed:18458058, PubMed:31212927). Essential for the efficient reshuttling of ILF3 (isoform 1 and isoform 2) into the nucleus. Together with ILF3, forms an RNA-binding complex that is required for mitotic progression and cytokinesis by regulating the expression of a cluster of mitotic genes. Mechanistically, competes with STAU1/STAU2-mediated mRNA decay (PubMed:32433969). Also plays a role in the inhibition of various viruses including Japanese encephalitis virus or enterovirus 71., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ILF2 enhances the DNA cytosine deaminase activity of tumor mutator APOBEC3B in multiple myeloma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Integrating trans-omics, cellular experiments and clinical validation to identify ILF2 as a diagnostic serum biomarker and therapeutic target in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NUSAP1 Binds ILF2 to Modulate R-Loop Accumulation and DNA Damage in Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Serine hydroxymethyltransferase 2 (SHMT2) potentiates the aggressive process of oral squamous cell carcinoma by binding to interleukin enhancer-binding factor 2 (ILF2)., [RefSeq, PubMed]; The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NDB0;B2R8G7;Q5SR10;Q5SR11;Q7L7R3;Q9BWD4;Q9P1N0", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 25.9, "record_id": "Q12905-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVV8-1", "uniprot_id": "NKAI4_HUMAN", "mass": 23240.0, "length": 208, "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4", "gene_name": "NKAIN4", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4 isoform 1", "refseq_ac": "NP_690603", "gene_names_uniprotkb": "NKAIN4; C20orf58; FAM77A", "gene_names_refseq": "C20orf58; FAM77A; NKAIN4; bA261N11.2", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4; Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 4; Protein FAM77A", "protein_names_refseq": "Na(+)/K(+)-transporting ATPase subunit beta-1-interacting protein 4; Na+/K+ transporting ATPase interacting 4; sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4 isoform 1; sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:128414)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;25418920;26811146;26929215;29557506", "class_list": "", "function": "NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q4VXQ6;Q9BQU8;Q9BQU9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002028 regulation of sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8IVV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NTZ6-1", "uniprot_id": "RBM12_HUMAN", "mass": 97395.0, "length": 932, "protein_name": "RNA-binding protein 12", "gene_name": "RBM12", "organism": "Human", "refseq_name": "RNA-binding protein 12", "refseq_ac": "NP_001185767", "gene_names_uniprotkb": "RBM12; HRIHFB2091; KIAA0765", "gene_names_refseq": "HRIHFB2091; RBM12; SCZD19; SWAN", "protein_names_uniprotkb": "RNA-binding protein 12; RNA-binding motif protein 12; SH3/WW domain anchor protein in the nucleus; SWAN", "protein_names_refseq": "RNA-binding protein 12; SH3/WW domain anchor protein in the nucleus", "tax_id": 9606, "disease": "schizophrenia 19 (Disease Ontology:DOID:0080281)", "pathway": " (hsa:10137)", "pathway_count": 1, "publication_count": 125, "publication_id_list": "10.1074/mcp.M114.046862;11237011;11435693;15144186;17081983;17287340;17322306;18220336;18669648;18767875;18831769;19651622;20068231;21406692;22661428;23186163;23301498;23481700;24678003;24714562;25645385;25813380;26154972;26375851;26728094;26758079;26811146;26992070;27600516;27655845;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28510447;28628109;28832583;28834231;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30059200;30315122;30379171;30410026;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31373491;31492838;31530632;31637018;31844290;31848261;32119511;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33592498;33633747;33691108;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34561969;34725712;34932366;35051231;35132862;35138101;35254053;35289036;35494241;35580925;35622975;36010968;36215666;36240223;36241641;36284347;37340703;37541260;37543364;37793588;38665916;39302247;39531497;39534244;40136647;40307207;41350704;9853615", "class_list": "", "function": "Identification and characterization of RBM12 as a novel regulator of fetal hemoglobin expression., [RefSeq, PubMed]; RBM12 regulates the progression of hepatocellular cancer via miR-497-5p/CPNE1 Axis., [RefSeq, PubMed]; RBM12 shares a promoter and 5'UTR exons with CPNE1. This genomic structure is conserved among multiple species. Publication Status: Online-Only, [RefSeq, PubMed]; The psychosis risk factor RBM12 encodes a novel repressor of GPCR/cAMP signal transduction., [RefSeq, PubMed]; This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 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": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "B3KRU2;E1P5R6;O94865;Q8N3B1;Q9H196", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q9NTZ6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43613-1", "uniprot_id": "OX1R_HUMAN", "mass": 47536.0, "length": 425, "protein_name": "Orexin/Hypocretin receptor type 1", "gene_name": "HCRTR1", "organism": "Human", "refseq_name": "orexin/Hypocretin receptor type 1", "refseq_ac": "NP_001516", "gene_names_uniprotkb": "HCRTR1; ORXR1; OX1R; OXR1", "gene_names_refseq": "HCRTR1; ORXR1; OX1R; OXR1", "protein_names_uniprotkb": "Orexin/Hypocretin receptor type 1; Hypocretin receptor type 1; Orexin receptor type 1; Ox-1-R; Ox1-R; Ox1R", "protein_names_refseq": "hypocretin (orexin) receptor 1; hypocretin receptor type 1; orexin receptor 1; orexin receptor type 1; orexin/Hypocretin receptor type 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3061); (R-HSA-389397); (R-HSA-416476)", "pathway_count": 3, "publication_count": 54, "publication_id_list": "10191087;10364220;10567430;10583376;10727532;10861009;10973318;11015615;11024015;11030716;11237011;11574155;11723285;11742120;11753430;12120503;12714592;15683363;15951850;16182515;16268778;16339447;16429482;16754659;16923326;18083107;18434541;18515384;18577758;18936096;1905813;23481700;24715725;26950369;2841328;29351928;29557506;30783092;3086311;31860301;32669442;32827691;33212156;34439801;34472713;35051231;37054895;37572990;7937899;8664309;9224703;9305846;9491897;9770463", "class_list": "", "function": "G protein-coupled receptor that binds the neuropeptide orexin-A with high affinity, and orexin-B with lower affinity, two peptides derived from a common precursor, prepro-orexin (PubMed:32669442, PubMed:9491897). Its activity is mediated via a G(q)-protein-coupled pathway, which activates the phosphatidylinositol-calcium second messenger system in response to orexin-A binding (PubMed:32669442). In addition to G(q)-mediated signaling, orexin-A stimulation also promotes beta-arrestin recruitment, leading to receptor internalization (PubMed:15683363, PubMed:32669442). Plays a significant role in the regulation of food intake (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Human adipose tissue is a putative direct target of daytime orexin with favorable metabolic effects: A cross-sectional study., [RefSeq, PubMed]; Identification and Characterization of Cannabidiol as an OX1R Antagonist by Computational and In Vitro Functional Validation. Publication Status: Online-Only, [RefSeq, PubMed]; Internal and external modulation factors of the orexin system (REVIEW). Review article, [RefSeq, PubMed]; Orexin-A protects against cerebral ischemia-reperfusion injury by inhibiting excessive autophagy through OX1R-mediated MAPK/ERK/mTOR pathway., [RefSeq, PubMed]; Orexin-A/OX1R is involved in regulation of autophagy to promote cortisol secretion in adrenocortical cell., [RefSeq, PubMed]; The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq, Jan 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 4, "reported_glycation": 0, "reported_snv": 14, "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": "A8K3A6;Q9HBV6", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0017046 peptide hormone binding;GO:0016499 orexin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0016020 membrane", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0007268 chemical synaptic transmission;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0032870 cellular response to hormone stimulus;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O43613-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGR2-1", "uniprot_id": "OR1L6_HUMAN", "mass": 39515.0, "length": 347, "protein_name": "Olfactory receptor 1L6", "gene_name": "OR1L6", "organism": "Human", "refseq_name": "olfactory receptor 1L6", "refseq_ac": "NP_001004453", "gene_names_uniprotkb": "OR1L6; OR1L7", "gene_names_refseq": "HG16; OR1L6; OR1L7; OR9-30", "protein_names_uniprotkb": "Olfactory receptor 1L6; Olfactory receptor 1L7; Olfactory receptor OR9-30", "protein_names_refseq": "olfactory receptor 1L6; olfactory receptor 1L7; olfactory receptor OR9-30; olfactory receptor, family 1, subfamily L, member 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:392390); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986", "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": 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": 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": "Q6IFM8;Q96R80", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TC44-1", "uniprot_id": "POC1B_HUMAN", "mass": 53668.0, "length": 478, "protein_name": "POC1 centriolar protein homolog B", "gene_name": "POC1B", "organism": "Human", "refseq_name": "POC1 centriolar protein homolog B isoform b", "refseq_ac": "NP_001186706", "gene_names_uniprotkb": "POC1B; WDR51B", "gene_names_refseq": "CORD20; PIX1; POC1B; TUWD12; WDR51B", "protein_names_uniprotkb": "POC1 centriolar protein homolog B; Pix1; Proteome of centriole protein 1B; WD repeat-containing protein 51B", "protein_names_refseq": "POC1 centriolar protein homolog B isoform b; POC1 centriolar protein homolog B; WD repeat-containing protein 51B; proteome of centriole protein 1B", "tax_id": 9606, "disease": "oligoasthenoteratozoospermia (Disease Ontology:DOID:0070311); cone-rod dystrophy 20 (Disease Ontology:DOID:0111026)", "pathway": " (hsa:282809)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;14654843;18068700;18669648;19109428;20008567;23015594;23481700;24945461;25018096;25044745;25880248;26992070;28832583;28834231;28904123;29242379;29493099;31154438;31217245;31530632;31844290;32060285;32110738;32157095;32350084;32357974;32897882;32938616;33298915;33592498;33912179;33981976;34171305;34221209;34405274;35051231;36094084;36241641;37070736;37246743;37934472", "class_list": "", "function": "Based on these data, we propose that Pix1 and Pix2 are microtubule-associated adaptor proteins that likely contribute to a range of developmental and cell division processes., [RefSeq, PubMed]; Differential Expression Study of Lysine Crotonylation and Proteome for Chronic Obstructive Pulmonary Disease Combined with Type II Respiratory Failure. Publication Status: Online-Only, [RefSeq, PubMed]; Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice., [RefSeq, PubMed]; POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]., [RefSeq]; Phenotypic and genotypic features of POC1B-associated cone dystrophy., [RefSeq, PubMed]; Plays an important role in centriole assembly and/or stability and ciliogenesis (PubMed:20008567, PubMed:32060285). Involved in early steps of centriole duplication, as well as in the later steps of centriole length control (PubMed:19109428). Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation (PubMed:32060285). Required for primary cilia formation, ciliary length and also cell proliferation (PubMed:23015594). Required for retinal integrity (PubMed:25044745). Acts as a positive regulator of centriole elongation (PubMed:37934472)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation. Required for primary cilia formation, ciliary length and also cell proliferation. Required for retinal integrity. Acts as a positive regulator of centriole elongation., [UniProtKB, UniProtKB]; Poc1B is required for primary ciliogenesis; Poc1 provides a molecular link between the assembly and stability of centrioles for ciliary-based motility in T. thermophila and cilia formation and function in zebrafish and humans, [RefSeq, PubMed]; Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "G3V1X0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005813 centrosome;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0008283 cell population proliferation;GO:0001895 retina homeostasis;GO:0060271 cilium assembly;GO:1903724 positive regulation of centriole elongation;GO:0007099 centriole replication", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q8TC44-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P01589-1", "uniprot_id": "IL2RA_HUMAN", "mass": 30819.0, "length": 272, "protein_name": "Interleukin-2 receptor subunit alpha", "gene_name": "IL2RA", "organism": "Human", "refseq_name": "interleukin-2 receptor subunit alpha isoform 1 precursor", "refseq_ac": "NP_000408", "gene_names_uniprotkb": "IL2RA", "gene_names_refseq": "CD25; IDDM10; IL2RA; IL2R; IMD41; TCGFR; p55", "protein_names_uniprotkb": "Interleukin-2 receptor subunit alpha; IL-2 receptor subunit alpha; IL-2-RA; IL-2R subunit alpha; IL2-RA; TAC antigen; p55", "protein_names_refseq": "IL-2 receptor subunit alpha; IL-2R subunit alpha; TAC antigen; interleukin 2 receptor, alpha; interleukin-2 receptor subunit alpha isoform 1 precursor", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); Korean hemorrhagic fever (Disease Ontology:DOID:0050200); inflammatory bowel disease (Disease Ontology:DOID:0050589); COVID-19 (Disease Ontology:DOID:0080600); type 1 diabetes mellitus 10 (Disease Ontology:DOID:0110749); immunodeficiency 41 (Disease Ontology:DOID:0111968); Hantavirus hemorrhagic fever with renal syndrome (Disease Ontology:DOID:11266); Sjogren's syndrome (Disease Ontology:DOID:12894); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); lymphopenia (Disease Ontology:DOID:614); diabetes mellitus (Disease Ontology:DOID:9351); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:3559); (R-HSA-5673001); (R-HSA-8877330); (R-HSA-9020558); (R-HSA-912526)", "pathway_count": 5, "publication_count": 115, "publication_id_list": "10207047;10455108;10508167;10533284;10570274;10825200;10869344;10982827;11027663;11090077;11136978;11237011;11313946;11340297;11546808;11702783;11961349;12032311;12094235;12121613;12220513;14506247;1465135;14707138;15178252;1526987;15356145;1545823;15546878;16293754;16477002;16627759;16684964;16873067;1716764;17377532;17440057;17676041;17998941;18775330;1898771;19279408;19800266;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;2303462;23103841;23303910;23416241;23443682;23575685;24116927;24190977;24897931;24937142;25219551;25781681;26085527;28778966;2941417;2996141;2999698;3030566;31135801;3134887;32350084;33043033;33349241;35251023;37074911;37843874;38037265;38195135;38253038;38394507;38805281;6090948;6090949;6148751;7499411;7529123;7568001;7600304;7809086;7935463;7972015;7973658;8022485;8052307;8084588;8294403;8394845;8493579;8631883;8643566;8665852;8700888;8702919;8710374;8939933;9030599;9099679;9108392;9512511;9604935;9885561;9927426", "class_list": "", "function": "Evaluation of gene-gene interaction between the interleukin (IL)-2 and IL-2RA gene polymorphisms in schizophrenia patients in the Turkish Population., [RefSeq, PubMed]; IL2RA rs2104286 and IL2 rs2069762 polymorphisms may be associated with bipolar disorder and its clinical findings., [RefSeq, PubMed]; Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis., [RefSeq, PubMed]; Long noncoding RNA LIRIL2R modulates FOXP3 levels and suppressive function of human CD4[+] regulatory T cells by regulating IL2RA., [RefSeq, PubMed]; Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]., [RefSeq]; The soluble IL-2 receptor alpha/CD25 as a modulator of IL-2 function. 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": 2, "reported_o_glycosites": 4, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; prognostic", "glycan_count": 3, "disease_count": 13, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q5W007", "ec_number_list": "", "go_molecular_function": "GO:0004911 interleukin-2 receptor activity;GO:0019976 interleukin-2 binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0005893 interleukin-2 receptor complex;GO:0016020 membrane", "go_biological_process": "GO:0002664 regulation of T cell tolerance induction;GO:0038110 interleukin-2-mediated signaling pathway;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "P01589-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10515-1", "uniprot_id": "ODP2_HUMAN", "mass": 68997.0, "length": 647, "protein_name": "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial", "gene_name": "DLAT", "organism": "Human", "refseq_name": "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 2 precursor", "refseq_ac": "NP_001922", "gene_names_uniprotkb": "DLAT; DLTA", "gene_names_refseq": "DLAT; DLTA; E2; PBC; PDC-E2; PDCE2", "protein_names_uniprotkb": "Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial; 2.3.1.12; 70 kDa mitochondrial autoantigen of primary biliary cirrhosis; Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; M2 antigen complex 70 kDa subunit; PBC; PDC-E2; PDCE2; Pyruvate dehydrogenase complex component E2", "protein_names_refseq": "70 kDa mitochondrial autoantigen of primary biliary cirrhosis; E2 component of pyruvate dehydrogenase complex; M2 antigen complex 70 kDa subunit; dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial isoform 2 precursor; dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial; pyruvate dehydrogenase complex component E2", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); immunodeficiency 63 (Disease Ontology:DOID:0111997); hepatitis B (Disease Ontology:DOID:2043); asthma (Disease Ontology:DOID:2841); pyruvate decarboxylase deficiency (Disease Ontology:DOID:3649); lactic acidosis (Disease Ontology:DOID:3650); myasthenia gravis (Disease Ontology:DOID:437); visceral leishmaniasis (Disease Ontology:DOID:9146)", "pathway": " (hsa:1737); (R-HSA-204174); (R-HSA-5362517); (R-HSA-9857492); (R-HSA-9861559)", "pathway_count": 5, "publication_count": 114, "publication_id_list": "10103005;10493790;11237011;11327815;11389890;11485553;11486000;11909957;12651851;12806624;14638692;15855260;15861126;15866176;15946682;16049940;17222534;17532006;17532339;17544412;17683942;18387944;18491316;18542081;19144697;19570983;19608861;19664995;19833728;19850744;20042001;20160912;20215566;20361979;20884751;21504868;21846720;21998312;22152680;22871568;23186163;23301498;23991366;24256811;24341803;25505266;25525879;25992863;26992070;27846572;27920218;28218747;28228285;28510447;28514659;28649982;28757203;28832583;28834231;28904123;29242379;29437277;29557506;29987032;30315122;30379171;30410026;30418433;31042466;31089130;31154438;31530632;3174635;31844290;3191998;32119511;32157095;32161166;32350084;32357974;32938616;32983136;33298915;33691108;33912179;33968037;34357683;34725712;34932366;35051231;35083852;35154160;35494241;35580925;36241641;36975441;37199628;37217939;37453661;37481209;37828099;38665916;39428563;40914422;7499431;7704533;8798399;9045657;9395502;9405293;9649469;9651365;9710704;9815194", "class_list": "", "function": "Cuproptosis-Related Gene DLAT as a Novel Biomarker Correlated with Prognosis, Chemoresistance, and Immune Infiltration in Pancreatic Adenocarcinoma: A Preliminary Study Based on Bioinformatics Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; DLAT is a promising prognostic marker and therapeutic target for hepatocellular carcinoma: a comprehensive study based on public databases. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Insights Into DLAT's Role in Alzheimer's Disease-Related Copper Toxicity Through Microglial Exosome Dynamics., [RefSeq, PubMed]; Systematic pan-cancer analysis identifies cuproptosis-related gene DLAT as an immunological and prognostic biomarker., [RefSeq, PubMed]; The pyruvate dehydrogenase (PDH) complex, catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle. It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3);. Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acetyl groups from acetyl-lipoyl moiety generated by the pyruvate dehydrogenase, leading to acetyl-CoA formation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]; The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 8, "predicted_n_glycosites": 0, "predicted_o_glycosites": 8, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q16783;Q53EP3", "ec_number_list": "1.2.4.1;1.8.1.4;2.3.1.-;2.3.1.12;2.7.11.2;2.7.11.-;3.1.3.43;2.3.1.200;2.4.2.-;2.3.1.286", "go_molecular_function": "GO:0042802 identical protein binding;GO:0004742 dihydrolipoyllysine-residue acetyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045254 pyruvate dehydrogenase complex", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006006 glucose metabolic process;GO:0006086 pyruvate decarboxylation to acetyl-CoA;GO:0042867 pyruvate catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "P10515-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NAT1-1", "uniprot_id": "PMGT2_HUMAN", "mass": 66615.0, "length": 580, "protein_name": "Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2", "gene_name": "POMGNT2", "organism": "Human", "refseq_name": "protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2", "refseq_ac": "NP_116195", "gene_names_uniprotkb": "POMGNT2; AGO61; C3orf39; EOGTL; GTDC2", "gene_names_refseq": "AGO61; C3orf39; GTDC2; MDDGA8; MDDGC8; POMGNT2", "protein_names_uniprotkb": "Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2; 2.4.1.312; Extracellular O-linked N-acetylglucosamine transferase-like; Glycosyltransferase-like domain-containing protein 2; POMGnT2", "protein_names_refseq": "glycosyltransferase-like domain containing 2; glycosyltransferase-like domain-containing protein 2; protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2; protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2", "tax_id": 9606, "disease": "congenital muscular dystrophy-dystroglycanopathy type A8 (Disease Ontology:DOID:0111231); muscular dystrophy-dystroglycanopathy type C8 (Disease Ontology:DOID:0112382)", "pathway": " (hsa:84892); (R-HSA-8932505)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;14724282;22958903;23453667;23584533;23929950;24041696;24190977;24925318;27066570;27932460;29557506;32350084;32938616;33392160;33893702;33968037;34405274;35251023;35289036;36010968;36241641;37074911", "class_list": "glycogene;glycosyltransferase", "function": "GTDC2 generates CTD110.6 antibody-reactive N-acetylglucosamine epitopes on the O-mannosylated alpha-dystroglycan., [RefSeq, PubMed]; O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity., [UniProtKB, PubMed, PubMed]; POMGNT2 when two of the conserved amino acids are replaced. These findings begin to define the selectivity of POMGNT2 and suggest that this enzyme functions as a gatekeeper enzyme to prevent the vast majority of O-mannosylated sites on proteins from becoming modified with glycan structures functional for binding laminin globular domain-containing proteins, [RefSeq, PubMed]; The structure of POMGNT2 provides new insights into the mechanism to determine the functional O-mannosylation site on alpha-dystroglycan., [RefSeq, PubMed]; This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]., [RefSeq]; Using WES in consanguineous WWS-affected families, we found multiple deleterious mutations in GTDC2 (also known as AGO61). ., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 741, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B3KWC3;Q96SY3", "ec_number_list": "2.4.1.312", "go_molecular_function": "GO:0097363 protein O-acetylglucosaminyltransferase activity;GO:0008375 acetylglucosaminyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001764 neuron migration;GO:0006493 protein O-linked glycosylation;GO:0035269 protein O-linked glycosylation via mannose", "synthesized_glycan_count": 85, "hit_score": 4.0, "record_id": "Q8NAT1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P21912-1", "uniprot_id": "SDHB_HUMAN", "mass": 31630.0, "length": 280, "protein_name": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial", "gene_name": "SDHB", "organism": "Human", "refseq_name": "succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 1 precursor", "refseq_ac": "NP_002991", "gene_names_uniprotkb": "SDHB; SDH1; SDH", "gene_names_refseq": "CWS2; IP; MC2DN4; PGL4; PPGL4; SDH1; SDH2; SDHB; SDHIP; SDH", "protein_names_uniprotkb": "Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial; 1.1.5.-; 1.3.5.1; Ip; Iron-sulfur subunit of complex II; Malate dehydrogenase [quinone] iron-sulfur subunit", "protein_names_refseq": "iron-sulfur subunit of complex II; malate dehydrogenase [quinone] iron-sulfur subunit; succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 1 precursor; succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial; succinate dehydrogenase complex, subunit B, iron sulfur (Ip)", "tax_id": 9606, "disease": "pheochromocytoma (Disease Ontology:DOID:0050771); paraganglioma (Disease Ontology:DOID:0050773); mitochondrial complex II deficiency (Disease Ontology:DOID:0060537); pheochromocytoma/paraganglioma syndrome 4 (Disease Ontology:DOID:0061219); Carney-Stratakis syndrome (Disease Ontology:DOID:0080533); mitochondrial encephalomyopathy (Disease Ontology:DOID:890); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408); mitochondrial complex 2 deficiency, nuclear type 4 (MONDO:MONDO:0030974)", "pathway": " (hsa:6390); (R-HSA-611105); (R-HSA-71403); (R-HSA-9854311)", "pathway_count": 4, "publication_count": 151, "publication_id_list": "10327278;1052766;10673423;10727444;11237011;11278619;11404820;11695836;11897817;12000816;12207025;12213855;12231006;12618761;12837546;13181903;1327877;14249115;14500403;14555658;14715873;14741580;14832224;14946179;14974914;15234968;15247478;15250827;15328326;15473885;15652751;15877282;15987702;16143825;16230336;16322339;16737955;16740313;16751257;17033964;17182618;17432878;17634472;17668387;17804857;17923681;186667;18678321;18806796;18914071;19261679;1946331;19628817;2005110;20068231;20167786;20435888;20847235;22109755;22416140;22972948;2302193;23150584;23270816;23564345;23747254;239860;2494655;24954416;24954417;25564869;25576301;25892735;26375851;26642834;26749241;26925370;27189937;27374498;27604842;27920218;28218747;28228285;28380382;28391595;28514659;28832583;28887308;28904123;29242379;29351237;29393594;29437277;29557506;29632046;29632711;29769354;30761759;30779550;30833945;30844107;31092671;31154438;31217245;31530632;31611695;31844290;31848261;32124427;32157095;32350084;32502341;32983136;33058874;33141586;33465208;33592498;33717175;33912179;33981976;34087483;34171305;34229054;34289383;34357683;34932366;35051231;35366151;35580925;36139014;36241641;36420423;36581221;36786389;37098072;37938771;38097671;38311902;38665916;40596516;4288886;7622059;8200987;8616157;9765290;9765291;9792106;9792662;9809442;9878551;9989622", "class_list": "", "function": "Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring. Publication Status: Online-Only, [RefSeq, PubMed]; Iron-sulfur protein (IP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate. Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement. Review article, [RefSeq, PubMed]; Succinate Dehydrogenase Deficient Renal Cell Carcinoma With Sarcomatoid and Rhabdoid Features-A Diagnostic Dilemma., [RefSeq, PubMed]; This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed of four nuclear-encoded subunits. This enzyme complex converts succinate to fumarate which releases electrons as part of the citric acid cycle, and the enzyme complex additionally provides an attachment site for released electrons to be transferred to the oxidative phosphorylation pathway. The SDH enzyme complex plays a role in oxygen-related gene regulation through its conversion of succinate, which is an oxygen sensor that stabilizes the hypoxia-inducible factor 1 (HIF1) transcription factor. Sporadic and familial mutations in this gene result in paragangliomas, pheochromocytoma, and gastrointestinal stromal tumors, supporting a link between mitochondrial dysfunction and tumorigenesis. Mutations in this gene are also implicated in nuclear type 4 mitochondrial complex II deficiency. [provided by RefSeq, Jun 2022]., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "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": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R545;Q0QEY7;Q9NQ12", "ec_number_list": "1.3.5.1;1.1.5.-;1.16.3.1", "go_molecular_function": "GO:0009055 electron transfer activity;GO:0046872 metal ion binding;GO:0051538 3 iron, 4 sulfur cluster binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0051537 2 iron, 2 sulfur cluster binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0031966 mitochondrial membrane;GO:0045273 respiratory chain complex II (succinate dehydrogenase)", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0022904 respiratory electron transport chain;GO:0006105 succinate metabolic process;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "P21912-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95343-1", "uniprot_id": "SIX3_HUMAN", "mass": 35487.0, "length": 332, "protein_name": "Homeobox protein SIX3", "gene_name": "SIX3", "organism": "Human", "refseq_name": "homeobox protein SIX3", "refseq_ac": "NP_005404", "gene_names_uniprotkb": "SIX3", "gene_names_refseq": "HPE2; SIX3", "protein_names_uniprotkb": "Homeobox protein SIX3; Sine oculis homeobox homolog 3", "protein_names_refseq": "homeobox protein SIX3; sine oculis homeobox homolog 3; sine oculis homeobox-like protein 3", "tax_id": 9606, "disease": "holoprosencephaly 2 (Disease Ontology:DOID:0110872); holoprosencephaly (Disease Ontology:DOID:4621); schizencephaly (MONDO:MONDO:0010011)", "pathway": " (hsa:6496)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10369266;10415461;12441302;12543801;14973488;15221788;15523651;17001667;18775421;18791198;20157829;20531442;32502341;33141586;33264103;34021861;35951005;9889003", "class_list": "", "function": "Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man., [RefSeq, PubMed]; MiR-4306 Suppresses Proliferation of Esophageal Squamous Cell Carcinoma Cell by Targeting SIX3., [RefSeq, PubMed]; TRIM27 acts as an oncogene and regulates cell proliferation and metastasis in non-small cell lung cancer through SIX3-beta-catenin signaling., [RefSeq, PubMed]; This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]., [RefSeq]; Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitans intrathalamica formation and thereby ensuring proper anterio-posterior patterning of the diencephalon and formation of the rostral diencephalon. Acts as a direct upstream activator of SHH expression in the rostral diencephalon ventral midline and that in turn SHH maintains its expression. In addition, Six3 activity is required for the formation of the telencephalon. During postnatal stages of brain development is necessary for ependymal cell maturation by promoting the maturation of radial glia into ependymal cells through regulation of neuroblast proliferation and migration. Acts on the proliferation and differentiation of neural progenitor cells through activating transcription of CCND1 and CCND2. During early lens formation plays a role in lens induction and specification by activating directly PAX6 in the presumptive lens ectoderm. In turn PAX6 activates SIX3 resulting in activation of PDGFRA and CCND1 promoting cell proliferation. Also is required for the neuroretina development by directly suppressing WNT8B expression in the anterior neural plate territory. Its action during retina development and lens morphogenesis is TLE5 and TLE4-dependent manner. Furthermore, during eye development regulates several genes expression. Before and during early lens development represses the CRYGF promoter by binding a SIX repressor element. Directly activates RHO transcription, or cooperates with CRX or NRL. Six3 also functions in the formation of the proximodistal axis of the optic cup, and promotes the formation of optic vesicles-like structures. During pituitary development, acts in parallel or alternatively with HESX1 to control cell proliferation through Wnt/beta-catenin pathway (By similarity). Plays a role in eye development by suppressing WNT1 expression and in dorsal-ventral patterning by repressing BMP signaling pathway., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "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": "D6W5A5;Q53T42", "ec_number_list": "", "go_molecular_function": "GO:0042826 histone deacetylase 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:0001222 transcription corepressor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0014016 neuroblast differentiation;GO:1990086 lens fiber cell apoptotic process;GO:0061074 regulation of neural retina development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "O95343-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62854-1", "uniprot_id": "RS26_HUMAN", "mass": 13015.0, "length": 115, "protein_name": "Small ribosomal subunit protein eS26", "gene_name": "RPS26", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS26", "refseq_ac": "NP_001020", "gene_names_uniprotkb": "RPS26", "gene_names_refseq": "DBA10; RPS26; S26; eS26", "protein_names_uniprotkb": "Small ribosomal subunit protein eS26; 40S ribosomal protein S26", "protein_names_refseq": "40S ribosomal protein S26; small ribosomal subunit protein eS26", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 10 (Disease Ontology:DOID:0111888); Diamond-Blackfan anemia (Disease Ontology:DOID:1339)", "pathway": " (hsa:6231); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 290, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11265756;11331269;11466336;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17081983;17142313;17145369;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18446792;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19615748;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20116044;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22174690;22190735;22195017;22855488;22869377;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23439679;23482395;23636399;23746841;23783831;2388630;24424021;24524803;24550520;24715725;24942156;25132172;25242263;25432065;25525153;25576301;25645385;25802875;25880248;25892735;25901680;25957688;25969445;26154972;26237581;26375851;26992070;27526673;27846572;27862975;28065601;28132843;28228285;28467828;28510447;28685749;28832583;28834231;28871256;29242379;29331515;29371260;29413899;29493099;29508533;29557506;29632711;29786170;29789417;30293783;30315122;30429286;30779550;30804176;30833945;31092671;31154438;31217245;31844290;31848261;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33080218;33141586;33188728;33214551;33268501;33298915;33479166;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34315815;34373319;34509645;34624207;34704236;34932366;35051231;35083852;35138101;35251023;35318648;35561310;35580925;35817369;36010968;36215666;36241641;36284347;36302773;36610391;37217939;37376976;37938771;38041572;38665916;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7584149;7945460;7990965;8336711;8407925;8464749;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9602156;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Association of RPS26 gene polymorphism with different types of diabetes in Chinese individuals., [RefSeq, PubMed]; Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688)., [UniProtKB, PubMed, PubMed, PubMed]; Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations. Review article, [RefSeq, PubMed]; Mendelian Randomization Analysis Identified Potential Genes Pleiotropically Associated with Polycystic Ovary Syndrome., [RefSeq, PubMed]; The functional role of the eukaryote-specific motif YxxPKxYxK of the human ribosomal protein eS26 in translation., [RefSeq, PubMed]; This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P02383;P70394;Q06722;Q3MHD8;Q6IRY4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0045296 cadherin binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006412 translation;GO:0033119 negative regulation of RNA splicing;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 29.3, "record_id": "P62854-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NFY7-1", "uniprot_id": "SDHF1_HUMAN", "mass": 12806.0, "length": 115, "protein_name": "Succinate dehydrogenase assembly factor 1, mitochondrial", "gene_name": "SDHAF1", "organism": "Human", "refseq_name": "succinate dehydrogenase assembly factor 1, mitochondrial", "refseq_ac": "NP_001036096", "gene_names_uniprotkb": "SDHAF1; LYRM8", "gene_names_refseq": "LYRM8; MC2DN2; SDHAF1", "protein_names_uniprotkb": "Succinate dehydrogenase assembly factor 1, mitochondrial; LYR motif-containing protein 8; SDH assembly factor 1; SDHAF1", "protein_names_refseq": "LYR motif containing 8; LYR motif-containing protein 8; SDH assembly factor 1; succinate dehydrogenase assembly factor 1, mitochondrial", "tax_id": 9606, "disease": "mitochondrial complex II deficiency (Disease Ontology:DOID:0060537); mitochondrial complex 2 deficiency, nuclear type 2 (MONDO:MONDO:0030935)", "pathway": " (hsa:644096); (R-HSA-9854311)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "15247478;17923681;19465911;19628817;20167786;22416140;22995659;23174333;24954416;24954417;26375851;26642834;26749241;28228285;28380382;28391595;28832583;28887308;29393594;29632046;30429286;31844290;32161166;33592498;34289383;35078991;9989622", "class_list": "", "function": "Leukoencephalopathy with accumulated succinate is a key symptom of defective complex II assembly due to SDHAF1 mutations Publication Status: Online-Only, [RefSeq, PubMed]; Parallel functional assessment of m(6)A sites in human endodermal differentiation with base editor screens. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol (PubMed:19465911, PubMed:24954417). Promotes maturation of the iron-sulfur protein subunit SDHB of the SDH catalytic dimer, protecting it from the deleterious effects of oxidants (PubMed:24954417). May act together with SDHAF3 (PubMed:24954417). Contributes to iron-sulfur cluster incorporation into SDHB by binding to SDHB and recruiting the iron-sulfur transfer complex formed by HSC20, HSPA9 and ISCU through direct binding to HSC20 (PubMed:26749241)., [UniProtKB, PubMed, PubMed, PubMed]; Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade. Review article, [RefSeq, PubMed]; The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[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": 2, "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": "B2RPM7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0034553 mitochondrial respiratory chain complex II assembly", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "A6NFY7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P10997-1", "uniprot_id": "IAPP_HUMAN", "mass": 9806.0, "length": 89, "protein_name": "Islet amyloid polypeptide", "gene_name": "IAPP", "organism": "Human", "refseq_name": "islet amyloid polypeptide preproprotein", "refseq_ac": "NP_000406", "gene_names_uniprotkb": "IAPP", "gene_names_refseq": "DAP; IAPP; IAP", "protein_names_uniprotkb": "Islet amyloid polypeptide; Amylin; DAP; Diabetes-associated peptide; IAPP; Insulinoma amyloid peptide", "protein_names_refseq": "Islet amyloid polypeptide (diabetes-associated peptide; amylin); insulinoma amyloid peptide; islet amyloid polypeptide preproprotein", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:3375); (R-HSA-210745); (R-HSA-418555); (R-HSA-419812); (R-HSA-977225)", "pathway_count": 5, "publication_count": 178, "publication_id_list": "10097139;10217420;10319874;10391242;10411933;10583407;10956649;11007482;11237011;11278841;11401442;11467836;11590439;11693189;118839;12036966;12058044;12106601;12180353;12454989;1270801;12717720;1282806;12860470;1331173;13549488;14506261;14567678;14578281;14615490;14671004;14722252;15064394;1517224;15765929;15769620;15951850;15962837;16174740;16313925;16687412;16799559;16923326;17051221;17065343;17065344;17168849;17374526;17425515;17665333;18044684;18065497;18070888;18358785;1837051;18449172;18484335;1849145;18577758;19011241;19105585;19244249;19475663;19658395;19828817;19876791;19929708;20381629;2039456;20573757;20676056;20807650;2091067;21036126;2118650;2163110;2177866;2195544;22065755;22131221;2223885;22944668;23153230;2365085;23803704;23813966;2409350;24169554;2417744;24687066;24833601;24893886;2491850;25297013;25523424;2553411;2553705;26018760;2608057;26417681;26417854;26432182;2651160;26559125;2666169;26668317;26686862;26807092;2690069;279930;2871555;2900981;29171818;29196783;29255900;29443750;29602314;2985435;30078552;3035556;3053705;3080684;30833991;3094007;3127824;31279028;31311674;31399091;3142462;31556018;31800988;3181427;31983287;32145209;32157332;32226383;32266704;32497535;32540603;32618402;32636324;32715661;32851644;33049737;3317417;3535798;3675579;37762425;38338796;38604526;38941872;6085243;6148938;6609312;7535678;8033412;8097946;8114934;8159701;8340388;8387282;8464497;8490014;8514797;8626685;8672451;8772735;8870004;8913788;9006323;9054935;9212325;9263355;9417641;9620797;9651336;9794116;9862427", "class_list": "", "function": "Amylin, Another Important Neuroendocrine Hormone for the Treatment of Diabesity. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Amylin/IAPP is a glucoregulatory peptide hormone that plays an important role in the regulation of energy homeostasis (PubMed:2690069). Selectively inhibits insulin-stimulated glucose utilization and glycogen deposition in muscle, while not affecting adipocyte glucose metabolism. IAPP function is mediated by the CALCR-RAMPs (AMYRs) receptor complexes (By similarity). Amylin can also bind CALCR receptor in the absence of RAMPs, although it is more selective for AMYRs (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Antimicrobial activity of human islet amyloid polypeptide against clinically relevant bacteria, [RefSeq, PubMed]; The Abeta42 Peptide and IAPP Physically Interact in a Yeast-Based Assay. Publication Status: Online-Only, [RefSeq, PubMed]; The Co-oligomers of Abeta42 and Human Islet Amyloid Polypeptide Exacerbate Neurotoxicity and Alzheimer-like Pathology at Cellular Level., [RefSeq, PubMed]; This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016]., [RefSeq]; Understanding the structural dynamics of human islet amyloid polypeptide: Advancements in and applications of ion-mobility mass spectrometry. 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": 3, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0ZD87;Q14598", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0001540 amyloid-beta binding;GO:0008289 lipid binding;GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0043065 positive regulation of apoptotic process;GO:0043410 positive regulation of MAPK cascade;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "P10997-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92743-1", "uniprot_id": "HTRA1_HUMAN", "mass": 51287.0, "length": 480, "protein_name": "Serine protease HTRA1", "gene_name": "HTRA1", "organism": "Human", "refseq_name": "serine protease HTRA1 precursor", "refseq_ac": "NP_002766", "gene_names_uniprotkb": "HTRA1; HTRA; PRSS11", "gene_names_refseq": "ARMD7; CADASIL2; CARASIL2; CARASIL; HTRA1; HtrA; L56; ORF480; PRSS11", "protein_names_uniprotkb": "Serine protease HTRA1; 3.4.21.-; High-temperature requirement A serine peptidase 1; L56; Serine protease 11", "protein_names_refseq": "IGFBP5-protease; high-temperature requirement A serine peptidase 1; protease, serine, 11 (IGF binding); serine protease HTRA1 precursor; serine protease HTRA1", "tax_id": 9606, "disease": "vitelliform macular dystrophy (Disease Ontology:DOID:0050661); patterned macular dystrophy (Disease Ontology:DOID:0060863); autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 (Disease Ontology:DOID:0061228); age related macular degeneration 7 (Disease Ontology:DOID:0110019); autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2 (Disease Ontology:DOID:0111036); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); age related macular degeneration (Disease Ontology:DOID:10871); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); esophageal carcinoma (Disease Ontology:DOID:1107); Parkinson's disease (Disease Ontology:DOID:14330); malignant mesothelioma (Disease Ontology:DOID:1790); colon cancer (Disease Ontology:DOID:219); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684); ulcerative colitis (Disease Ontology:DOID:8577); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:5654); (R-HSA-1474228)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10229672;10386589;10706100;10809722;10986281;11237011;11375993;11872628;12727852;12843408;14973287;15208355;15234972;15591058;15958533;16133547;16377621;1649600;16631740;16825321;1698775;17053108;17053109;1707285;17332331;17354228;17608959;18434311;18658137;19010778;19387015;19571574;19657146;19714641;20142769;20671064;21030783;21297635;21441952;21670566;21784848;21864727;22159414;23035980;23845380;25645385;26063658;27600516;27726376;27862975;29093164;29557506;29786170;29789417;30429286;31154438;31844290;32157095;32161166;32350084;32938616;33592498;35051231;35251023;35318648;36241641;36284347;37938771;38334007;38515161;39013852;39028977;39148085;7075587;7547873;8226919;8626565;8977104;9065415;9115292;9148753;9461298;9852107", "class_list": "", "function": "Altered Elastin Turnover, Immune Response, and Age-Related Retinal Thinning in a Transgenic Mouse Model With RPE-Specific HTRA1 Overexpression., [RefSeq, PubMed]; HTRA1 promotes EMT through the HDAC6/Ac-alpha-tubulin pathway in human GBM cells., [RefSeq, PubMed]; HTRA1-driven detachment of type I collagen from endoplasmic reticulum contributes to myocardial fibrosis in dilated cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of HTRA1, DPT and MXRA5 as potential biomarkers associated with osteoarthritis progression and immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Rational correction of pathogenic conformational defects in HTRA1. Publication Status: Online-Only, [RefSeq, PubMed]; Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Inhibits signaling mediated by TGF-beta family members. This activity requires the integrity of the catalytic site, although it is unclear whether TGF-beta proteins are themselves degraded. By acting on TGF-beta signaling, may regulate many physiological processes, including retinal angiogenesis and neuronal survival and maturation during development. Intracellularly, degrades TSC2, leading to the activation of TSC2 downstream targets., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 20, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DRE4;Q9UNS5", "ec_number_list": "3.4.21.-", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0019838 growth factor binding;GO:0042802 identical protein binding;GO:0008236 serine-type peptidase activity;GO:0140677 molecular function activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0043065 positive regulation of apoptotic process;GO:0012501 programmed cell death", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q92743-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27930-1", "uniprot_id": "IL1R2_HUMAN", "mass": 45421.0, "length": 398, "protein_name": "Interleukin-1 receptor type 2", "gene_name": "IL1R2", "organism": "Human", "refseq_name": "interleukin-1 receptor type 2 isoform 2 precursor", "refseq_ac": "NP_001248348", "gene_names_uniprotkb": "IL1R2; IL1RB", "gene_names_refseq": "CD121b; CDw121b; IL-1R-2; IL-1RT-2; IL-1RT2; IL1R2c; IL1R2; IL1RB", "protein_names_uniprotkb": "Interleukin-1 receptor type 2; CD121 antigen-like family member B; CDw121b; IL-1 type II receptor; IL-1R-2; IL-1R-beta; IL-1RT-2; IL-1RT2; Interleukin-1 receptor beta; Interleukin-1 receptor type II", "protein_names_refseq": "CD121 antigen-like family member B; IL-1 type II receptor; IL-1R-beta; antigen CDw121b; interleukin-1 receptor beta; interleukin-1 receptor type 2 isoform 2 precursor; interleukin-1 receptor type II; type II interleukin-1 receptor, beta", "tax_id": 9606, "disease": "organ system cancer (Disease Ontology:DOID:0050686); lung cancer (Disease Ontology:DOID:1324); aggressive periodontitis (Disease Ontology:DOID:1474); lung adenocarcinoma (Disease Ontology:DOID:3910); cholangiocarcinoma (Disease Ontology:DOID:4947); esophageal cancer (Disease Ontology:DOID:5041)", "pathway": " (hsa:7850); (R-HSA-6783783); (R-HSA-9020702)", "pathway_count": 3, "publication_count": 124, "publication_id_list": "10075690;10092818;10415057;10433356;10514433;10702308;10854325;10882101;10918611;10975853;11094434;11237011;11960013;12496252;12530978;12538665;12554859;12626585;12791687;12832402;12860405;1460289;14625308;15917247;15919823;16982608;17135271;17141195;17507369;17675297;17890055;17997719;18070982;18180283;1828071;1833184;18438411;19264966;1940369;1940799;19903815;20145033;20802483;2139180;2147937;22424782;23090970;24190977;24743777;26375851;27466718;28218747;28832583;28904123;29242379;29391424;29437277;2946959;30315122;30410026;31217245;31844290;31998317;32350084;32983136;33912179;33936100;34357683;35580925;36524678;37041166;37074911;37820554;38097102;38277520;7510216;7512027;7512451;7516408;7543512;7593617;7594602;7628694;7684412;7687627;7878046;7902377;7989776;8063757;8102388;8120391;8163946;8186324;8301137;8327496;8332913;8537680;8599092;8662928;8702856;8734788;8742066;8837778;8871669;8897595;8910398;8921438;8946277;9013939;9312047;9346484;9354687;9371760;9395521;9430229;9449724;9550426;9794440;9836587;9859996;9862719;9918218;9990852;9990853", "class_list": "", "function": "Decreased Expression of EZH2 in Granulosa Cells Contributes to Endometriosis-Associated Infertility by Targeting IL-1R2., [RefSeq, PubMed]; Expression of interleukin-1beta and its receptor in human granulosa cells and their association with steroidogenesis., [RefSeq, PubMed]; IL1R2 promotes retinal angiogenesis to participate in retinopathy of prematurity by activating the HIF1alpha/PFKFB3 pathway., [RefSeq, PubMed]; Il1r2 and Tnfrsf12a in transcranial magnetic stimulation effect of ischemic stroke via bioinformatics analysis., [RefSeq, PubMed]; Non-signaling receptor for IL1A, IL1B and IL1RN. Reduces IL1B activities. Serves as a decoy receptor by competitive binding to IL1B and preventing its binding to IL1R1. Also modulates cellular response through non-signaling association with IL1RAP after binding to IL1B. IL1R2 (membrane and secreted forms) preferentially binds IL1B and poorly IL1A and IL1RN. The secreted IL1R2 recruits secreted IL1RAP with high affinity; this complex formation may be the dominant mechanism for neutralization of IL1B by secreted/soluble receptors., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Single-cell analysis reveals novel clonally expanded monocytes associated with IL1beta-IL1R2 pair in acute inflammatory demyelinating polyneuropathy. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 8645, "biomarker_type": "", "glycan_count": 10, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D3DVJ5;Q6LCE6;Q9UE68", "ec_number_list": "", "go_molecular_function": "GO:0019966 interleukin-1 binding;GO:0004908 interleukin-1 receptor activity;GO:0004910 interleukin-1, type II, blocking receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:2000660 negative regulation of interleukin-1-mediated signaling pathway;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0032691 negative regulation of interleukin-1 beta production;GO:0050728 negative regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P27930-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6L8G8-1", "uniprot_id": "KRA57_HUMAN", "mass": 15150.0, "length": 165, "protein_name": "Keratin-associated protein 5-7", "gene_name": "KRTAP5-7", "organism": "Human", "refseq_name": "keratin-associated protein 5-7", "refseq_ac": "NP_001012521", "gene_names_uniprotkb": "KRTAP5-7; KAP5-7; KAP5.3; KRTAP5.3; KRTAP5.7", "gene_names_refseq": "KRTAP5-3; KRTAP5-7; KRTAP5.7", "protein_names_uniprotkb": "Keratin-associated protein 5-7; Keratin-associated protein 5-3; Keratin-associated protein 5.3; Keratin-associated protein 5.7; Ultrahigh sulfur keratin-associated protein 5.7", "protein_names_refseq": "keratin-associated protein 5-3; keratin-associated protein 5-7; keratin-associated protein 5.3; keratin-associated protein 5.7; ultrahigh sulfur keratin-associated protein 5.7", "tax_id": 9606, "disease": "", "pathway": " (hsa:440050); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15144888;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 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2RNM3;Q701N5", "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": "Q6L8G8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15018-1", "uniprot_id": "LIF_HUMAN", "mass": 22008.0, "length": 202, "protein_name": "Leukemia inhibitory factor", "gene_name": "LIF", "organism": "Human", "refseq_name": "leukemia inhibitory factor isoform 2", "refseq_ac": "NP_001244064", "gene_names_uniprotkb": "LIF; HILDA", "gene_names_refseq": "CDF; DIA; HILDA; LIF; MLPLI", "protein_names_uniprotkb": "Leukemia inhibitory factor; D factor; Differentiation-stimulating factor; LIF; MLPLI; Melanoma-derived LPL inhibitor", "protein_names_refseq": "D factor; cholinergic differentiation factor; differentiation inhibitory activity; differentiation-inducing factor; differentiation-stimulating factor; hepatocyte-stimulating factor III; human interleukin in DA cells; leukemia inhibitory factor isoform 2; leukemia inhibitory factor; melanoma-derived LPL inhibitor", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); colon cancer (Disease Ontology:DOID:219); brain ischemia (Disease Ontology:DOID:2316); congestive heart failure (Disease Ontology:DOID:6000); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:3976); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-6788467)", "pathway_count": 4, "publication_count": 182, "publication_id_list": "10.1101/2023.09.13.557529;10023775;10092818;10219247;10369418;10415057;10433356;10510379;10586060;10586089;10812968;10867011;10966616;11058569;11084045;11104795;11120780;11278437;11278729;11294841;11356008;11404481;11463377;11834704;11943154;11960372;12223527;12242343;12554859;12600988;12601009;12626585;12707266;12811586;12832402;14527405;1460289;14634100;14712222;15116091;15146197;15261459;15450249;15519241;15584925;15805299;15869882;15919823;15950906;16007214;16048438;16051226;16107692;16205632;16236134;16397018;16451196;16510571;16540365;16606674;1692837;16982608;17427945;17458857;17572495;17652170;18243101;18353781;18447642;18644974;19124156;19185846;19397496;1940369;1940799;19920145;20145033;20493732;21102457;21252155;21689689;21715184;21730069;21937440;21994466;22046235;22205702;22383755;22693070;22851691;23086340;23090970;23124025;23172665;23455323;23555662;23967200;24097101;24190977;24743777;2475312;25234944;2730639;2779549;29242379;3128791;3143918;32576222;32938616;33968037;35051231;36010968;36241641;36930708;38134636;38150153;38518755;38554116;39032875;7510216;7512027;7512451;7516408;7529288;7543512;7593617;7594602;7670098;7684412;7687627;7738033;7795521;7796300;7852997;7862649;7898939;7902377;7907877;7957045;8063757;8085155;8102388;8119965;8120391;8163946;8186324;8272873;8301137;8390097;8489250;8537680;8602263;8621622;8627290;8637716;8662928;8663118;8668165;8734788;8742066;8797861;8816495;8871669;8897595;8910398;8921438;8946277;9013879;9013939;9238703;9312047;9354687;9449724;9550426;9651359;9723655;9736340;9794440;9822675;9836587;9874564;9918218", "class_list": "", "function": "Asymmetric post-translational modifications regulate the nuclear translocation of STAT3 homodimers in response to leukemia inhibitory factor., [RefSeq, PubMed]; Cancer-associated fibroblasts promote the malignant development of lung cancer through the FOXO1 protein/LIF signaling., [RefSeq, PubMed]; Functions as a cytokine that binds to the LIF receptor complex (PubMed:11294841, PubMed:14527405, PubMed:36930708). The LIF receptor complex indeed consists of two signaling receptor subunits IL6ST/gp130 and LIFR that transduce the signal into the cell (PubMed:14527405, PubMed:36930708). Functionally, regulates cell self-renewal, differentiation and survival of embryonic stem cells (ESCs) and is crucial for embryonic implantation (By similarity). Mechanistically, ligand binding to LIFR, induces heterodimerization with IL6ST/gp130 activating JAK tyrosine kinases (JAK1 or JAK2 and to a lesser extent TYK2) bound to their intracellular domains (PubMed:11294841). These kinases subsequently phosphorylate IL6ST/gp130 and LIFR (PubMed:11294841). The tyrosine phosphorylated signaling receptors serve in turn as docking sites for recruitment and activation of signal transducers and activators of transcription (STAT3 and to lesser extent STAT1) (PubMed:11294841). In parallel to the activation of the STAT3-pathway, the binding of LIF to the LIF receptor complex leads to the activation of the mitogen-activated protein kinase (MAPK) and the phosphatidylinositol 3-kinase (PI(3)K) pathways (PubMed:11294841). Tyrosine phosphorylation of the p85 subunit of PI(3)K by JAK1 leads to activation of the serine/ threonine kinase AKT (protein kinase B) (PubMed:11294841). PI(3)K-dependent signaling is required for efficient self-renewal of murine ES cells, and regulation of ERK activity is functionally important in this response (By similarity). Moreover, induces tyrosine phosphorylation of PTPN11, that associates with IL6ST/gp130-LIFR, which in turn recruits the p85 regulatory subunit of PI(3)K protein kinase, promoting PI3K-AKT activation, and GRB2-RAS-MAPK signaling (PubMed:11294841)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Human Seminal Extracellular Vesicles Enhance Endometrial Receptivity Through Leukemia Inhibitory Factor., [RefSeq, PubMed]; MDM2-p53 mediate a miR-181c-3p/LIF axis to regulate low dose-rate radiation-induced DNA damage in human B lymphocytes., [RefSeq, PubMed]; Super-enhancer-driven LIF promotes the mesenchymal transition in glioblastoma by activating ITGB2 signaling feedback in microglia., [RefSeq, PubMed]; The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "monitoring", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RCW7;B5MC23;Q52LZ2", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity;GO:0005146 leukemia inhibitory factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol", "go_biological_process": "GO:0072307 regulation of metanephric nephron tubule epithelial cell differentiation;GO:0006955 immune response;GO:0008284 positive regulation of cell population proliferation;GO:0033138 positive regulation of peptidyl-serine phosphorylation;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "P15018-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19404-1", "uniprot_id": "NDUV2_HUMAN", "mass": 27392.0, "length": 249, "protein_name": "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial", "gene_name": "NDUFV2", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor", "refseq_ac": "NP_066552", "gene_names_uniprotkb": "NDUFV2", "gene_names_refseq": "CI-24k; MC1DN7; NDUFV2", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; 7.1.1.2; NADH-ubiquinone oxidoreductase 24 kDa subunit; NDUFV2", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa; NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor; NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; NADH dehydrogenase ubiquinone flavoprotein 2, mitochondrial; NADH-ubiquinone oxidoreductase 24 kDa subunit; NADH-ubiquinone oxidoreductase flavoprotein 2; complex I 24kDa subunit; complex I, mitochondrial respitory chain, 24 kD subunit; nuclear-encoded mitochondrial NADH-ubiquinone reductase 24Kd subunit", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 7 (Disease Ontology:DOID:0112092); Parkinson's disease (Disease Ontology:DOID:14330); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:4729); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10327278;11220739;11237011;11695836;12231006;12611891;12754703;12837546;1327877;14741580;15250827;16230336;17033964;17936786;186667;19752196;20068231;20406883;20552642;20858599;21924235;22823520;23150584;23270816;23553477;23564345;23747254;239860;24191001;2500970;25418920;25564869;25576301;25645385;25678554;26008862;26375851;26768311;26811146;26992070;27110896;27499296;27626371;27846572;28510447;28844695;29493099;29557506;30410026;30779550;30833945;31217245;31222486;31530632;31611695;31666358;31844290;31866046;31998317;32157095;32320651;32387766;32488085;32983136;33141586;33633747;33717175;33879611;33882309;33912179;34171305;34357683;34405929;34697471;35051231;35333655;35580925;35614220;36241641;36309697;38199007;4288886;9571201;9878551", "class_list": "", "function": "Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; 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 (Probable). Parts of the peripheral arm of the enzyme, where the electrons from NADH are accepted by flavin mononucleotide (FMN) and then passed along a chain of iron-sulfur clusters by electron tunnelling to the final acceptor ubiquinone (Probable). Contains one iron-sulfur cluster (Probable)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2., [RefSeq, PubMed]; Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2., [RefSeq, PubMed]; The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BV41", "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:0009055 electron transfer activity;GO:0046872 metal ion binding;GO:0051537 2 iron, 2 sulfur cluster binding;GO:0016491 oxidoreductase activity;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:0007399 nervous system development;GO:0048738 cardiac muscle tissue development;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P19404-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAD7-1", "uniprot_id": "OCC1_HUMAN", "mass": 6407.0, "length": 63, "protein_name": "Overexpressed in colon carcinoma 1 protein", "gene_name": "C12orf75; OCC1", "organism": "Human", "refseq_name": "overexpressed in colon carcinoma 1 protein", "refseq_ac": "NP_001138671", "gene_names_uniprotkb": "C12orf75; OCC1; C12orf75", "gene_names_refseq": "AGD3; C12orf75; OCC-1; OCC1", "protein_names_uniprotkb": "Overexpressed in colon carcinoma 1 protein; AGD3; OCC-1", "protein_names_refseq": "adipogenesis down-regulated 3; overexpressed in colon carcinoma 1 protein; overexpressed in colon carcinoma-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:387882)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11890990;19531736;25418920;25502872;25576301;26992070;27846572;27986894;28446606;28467828;28832583;28834231;29242379;29632046;30218350;30833945;31844290;32265295;34074799;34087483;34357683;35397713;35576683", "class_list": "", "function": "Downregulation of C12orf75 gene inhibits migration and invasion of liver cancer cell via suppressing the Wnt/beta-catenin signaling pathway in vitro., [RefSeq, PubMed]; OCC-1D overexpression resulted in increased sub-G1 cell population in MCF7 cells, detected by flow cytometry. Results suggest that OCC1-D variant have an inhibitory effect on APPL2 expression and may regulate the cell cycle status., [RefSeq, PubMed]; OCC-1D regulates Wnt signaling pathway: potential role of long noncoding RNA in colorectal cancer., [RefSeq, PubMed]; Pan-cancer analysis of the prognostic value of C12orf75 based on data mining., [RefSeq, PubMed]; Study identified three novel transcripts of the OCC-1 gene; two of them, including a novel miRNA, are shown to be associated with the Wnt signaling pathway. Also, OCC-1 was found to affect the transcription level of its neighboring gene APPL2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8TAD7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P988-1", "uniprot_id": "NOTUM_HUMAN", "mass": 55699.0, "length": 496, "protein_name": "Palmitoleoyl-protein carboxylesterase NOTUM", "gene_name": "NOTUM", "organism": "Human", "refseq_name": "palmitoleoyl-protein carboxylesterase NOTUM precursor", "refseq_ac": "NP_848588", "gene_names_uniprotkb": "NOTUM; SW-CL.30", "gene_names_refseq": "NOTUM; hNOTUM", "protein_names_uniprotkb": "Palmitoleoyl-protein carboxylesterase NOTUM; 3.1.1.98; hNOTUM", "protein_names_refseq": "[Wnt protein] O-palmitoleoyl-L-serine hydrolase; notum pectinacetylesterase homolog; palmitoleoyl-protein carboxylesterase NOTUM precursor; palmitoleoyl-protein carboxylesterase NOTUM; protein notum homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:147111); (R-HSA-381426); (R-HSA-5362798); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 96, "publication_id_list": "10026136;10077652;10218588;10512690;10614670;10619433;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12015973;12241545;12372301;12379487;12466191;12810533;12904166;1370451;1383255;15110707;15126567;15308688;15469690;15485880;15525596;15642270;15647319;15963974;17047378;17210683;17249697;17312271;17609110;17967162;17985932;18429952;18477453;19176481;20412775;21257310;21339334;21664575;22467855;22609552;22677548;22902404;23118222;23719536;23867465;2476804;2479552;25731175;26091039;26517809;30343282;30779550;32350084;34079124;34402722;35251023;36010968;36280040;37749430;38278124;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "glycogene", "function": "Carboxylesterase that acts as a key negative regulator of the Wnt signaling pathway by specifically mediating depalmitoleoylation of WNT proteins. Serine palmitoleoylation of WNT proteins is required for efficient binding to frizzled receptors (PubMed:25731175)., [UniProtKB, PubMed]; Data show that notum and glypican-1 and glypican-3 gene expression during colorectal cancer (CRC) development and present evidence to suggest them as potential new biomarkers of CRC pathogenesis., [RefSeq, PubMed]; Kinetic and mass spectrometric analyses of human proteins show that Notum is a carboxylesterase that removes an essential palmitoleate moiety from Wnt proteins and thus constitutes the first known extracellular protein deacylase, [RefSeq, PubMed]; NOTUM expression was increased in metastatic cells. Proliferation was suppressed by inhibiting expression of NOTUM. Knockdown of NOTUM genes inhibited proliferation as well as migration, with possible involvement of p38 and c-JUN N-terminal kinase in this process., [RefSeq, PubMed]; NOTUM from Apc-mutant cells biases clonal competition to initiate cancer., [RefSeq, PubMed]; NOTUM plays a bidirectionally modulatory role in the odontoblastic differentiation of human stem cells from the apical papilla through the WNT/beta-catenin signaling pathway., [RefSeq, PubMed]; Notum enhances gastric cancer stem-like cell properties through upregulation of Sox2 by PI3K/AKT signaling pathway., [RefSeq, PubMed]; Notum leads to potential pro-survival of OSCC through crosstalk between Shh and Wnt/beta-catenin signaling via p-GSK3beta., [RefSeq, PubMed]; Notum palmitoleoyl-protein carboxylesterase regulates Fas cell surface death receptor-mediated apoptosis via the Wnt signaling pathway in colon adenocarcinoma., [RefSeq, PubMed]; Overexpression of NOTUM is associated with 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 611, "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": "Q8N410;Q8NI82", "ec_number_list": "1.8.3.2;3.4.24.81;3.1.-.-;3.4.21.-;1.11.1.27;1.16.3.1;1.11.1.9;1.16.3.4;3.4.21.69;5.3.4.1;3.6.4.-;3.4.21.112;3.1.1.98;2.7.11.1;3.1.1.4;3.1.1.3;3.2.1.51;2.4.1.145", "go_molecular_function": "GO:1990699 palmitoleyl hydrolase activity;GO:0004629 phospholipase C activity;GO:0140776 protein-containing complex destabilizing activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:1990697 protein depalmitoleylation;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0016055 Wnt signaling pathway;GO:0030178 negative regulation of Wnt signaling pathway;GO:0060348 bone development", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q6P988-1", "record_type": "protein" }, { "uniprot_canonical_ac": "E9PQR5-1", "uniprot_id": "NPIB8_HUMAN", "mass": 49617.0, "length": 432, "protein_name": "Nuclear pore complex-interacting protein family member B8", "gene_name": "NPIPB8", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member B8", "refseq_ac": "NP_001297065", "gene_names_uniprotkb": "NPIPB8", "gene_names_refseq": "NPIPB8", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member B8", "protein_names_refseq": "nuclear pore complex-interacting protein family member B8", "tax_id": 9606, "disease": "", "pathway": " (hsa:728734)", "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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "E9PQR5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NXR0-1", "uniprot_id": "IIGP5_HUMAN", "mass": 50288.0, "length": 463, "protein_name": "Interferon-inducible GTPase 5", "gene_name": "IRGC", "organism": "Human", "refseq_name": "interferon-inducible GTPase 5", "refseq_ac": "NP_062558", "gene_names_uniprotkb": "IRGC; IIGP5; IRGC1", "gene_names_refseq": "CINEMA; IFGGE; IRGC1; IRGC; Iigp5; R30953_1", "protein_names_uniprotkb": "Interferon-inducible GTPase 5; 3.6.5.-; Immunity-related GTPase cinema 1", "protein_names_refseq": "immunity-related GTPase cinema 1; immunity-related GTPase family, cinema 1; interferon-gamma-inducible GTPase IFGGE protein; interferon-inducible GTPase 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:56269)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;20237496;26992070;29557506;34171305;37195149", "class_list": "", "function": "GTPase required for sperm motility and therefore male fertility, via positive regulation of spermatozoa fibrous sheath formation., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The immunity-related GTPase IRGC mediates interaction between lipid droplets and mitochondria to facilitate sperm motility., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q05BR8", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0097226 sperm mitochondrial sheath;GO:0005811 lipid droplet;GO:0016020 membrane;GO:0036126 sperm flagellum", "go_biological_process": "GO:1902093 positive regulation of flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6NXR0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P09913-1", "uniprot_id": "IFIT2_HUMAN", "mass": 54632.0, "length": 472, "protein_name": "Interferon-induced protein with tetratricopeptide repeats 2", "gene_name": "IFIT2", "organism": "Human", "refseq_name": "interferon-induced protein with tetratricopeptide repeats 2", "refseq_ac": "NP_001538", "gene_names_uniprotkb": "IFIT2; CIG-42; G10P2; IFI54; ISG54", "gene_names_refseq": "G10P2; GARG-39; IFI-54K; IFI-54; IFI54; IFIT-2; IFIT2; ISG-54 K; ISG-54K; ISG-54; ISG54; P54; cig42", "protein_names_uniprotkb": "Interferon-induced protein with tetratricopeptide repeats 2; IFI-54K; IFIT-2; ISG-54 K; Interferon-induced 54 kDa protein; P54", "protein_names_refseq": "Interferon, alpha-inducible protein (MW 54kD); interferon-induced 54 kDa protein; interferon-induced protein 54; interferon-induced protein with tetratricopeptide repeats 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:3433); (R-HSA-909733)", "pathway_count": 2, "publication_count": 134, "publication_id_list": "10395669;10542297;10982844;11092454;11237011;11337497;11377645;11404376;11585831;12029096;12766484;12842042;14769151;15047845;15312780;15449939;15778442;16009940;16171819;16973618;16987978;17081983;17251292;1730654;17351669;17969444;18035202;18575461;18991276;19416887;19615748;20130243;20363976;20643137;20950130;21190939;21642987;2211721;22825553;23061660;23121362;23481700;24417533;2454816;24715725;25371710;25418920;25576301;26154972;26375851;27846572;27862975;27893789;27920218;28063628;28228285;28467828;28649982;28832583;28855257;28904123;29237092;29242379;29331515;29508533;29557506;29786170;30315122;30379171;30484775;30485383;30833945;31154438;31844290;31848261;31998317;32032529;32113509;32157095;32357974;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33117408;33141586;33189161;33193462;33298915;33396578;33592498;3360121;33912179;33968037;34087483;34171305;34215258;34357683;34405274;3466167;34763233;34884921;34932366;35051231;35318648;35580925;36284347;37063854;37938771;6162102;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9242679;9334213;9660177;9847332;9861020", "class_list": "", "function": "Comprehensive analysis of the prognosis and biological significance for IFIT family in skin cutaneous melanoma., [RefSeq, PubMed]; IFN-induced antiviral protein which inhibits expression of viral messenger RNAs lacking 2'-O-methylation of the 5' cap. The ribose 2'-O-methylation would provide a molecular signature to distinguish between self and non-self mRNAs by the host during viral infection. Viruses evolved several ways to evade this restriction system such as encoding their own 2'-O-methylase for their mRNAs or by stealing host cap containing the 2'-O-methylation (cap snatching mechanism). Binds AU-rich viral RNAs, with or without 5' triphosphorylation, RNA-binding is required for antiviral activity. Can promote apoptosis., [UniProtKB, PubMed]; Identified Three Interferon Induced Proteins as Novel Biomarkers of Human Ischemic Cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-199a-5P promotes osteogenic differentiation of human stem cells from apical papilla via targeting IFIT2 in apical periodontitis. Publication Status: Online-Only, [RefSeq, PubMed]; PML-II regulates ERK and AKT signal activation and IFNalpha-induced cell death. 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": 5, "reported_glycation": 0, "reported_snv": 21, "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": "Q5T767", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0009615 response to virus;GO:0071345 cellular response to cytokine stimulus;GO:0008637 apoptotic mitochondrial changes;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P09913-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2S7-1", "uniprot_id": "PDIP2_HUMAN", "mass": 42033.0, "length": 368, "protein_name": "Polymerase delta-interacting protein 2", "gene_name": "POLDIP2", "organism": "Human", "refseq_name": "polymerase delta-interacting protein 2 isoform 2", "refseq_ac": "NP_001277074", "gene_names_uniprotkb": "POLDIP2; HSPC017; PDIP38; POLD4", "gene_names_refseq": "PDIP38; POLDIP2; p38", "protein_names_uniprotkb": "Polymerase delta-interacting protein 2; 38 kDa DNA polymerase delta interaction protein; p38", "protein_names_refseq": "38 kDa DNA polymerase delta interaction protein; polymerase (DNA) delta interacting protein 2; polymerase (DNA-directed), delta interacting protein 2; polymerase delta interacting protein 38; polymerase delta-interacting protein 2 isoform 2; polymerase delta-interacting protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26073)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "12522211;15811854;16428295;19664994;20554254;23186163;23481700;24191025;25505266;25892735;26375851;26811146;26984527;27846572;27920218;28218747;28228285;28510447;28514659;28832583;29242379;29393594;29437277;29557506;29632046;29769354;30240625;30315122;30410026;30779550;31844290;31848261;32350084;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34211107;34357683;34405274;34528082;34932366;35051231;35083852;35140544;35580925;36596387;36795578", "class_list": "", "function": "Endothelial Poldip2 regulates sepsis-induced lung injury via Rho pathway activation., [RefSeq, PubMed]; Involved in DNA damage tolerance by regulating translesion synthesis (TLS) of templates carrying DNA damage lesions such as 8oxoG and abasic sites (PubMed:24191025). May act by stimulating activity of DNA polymerases involved in TLS, such as PRIMPOL and polymerase delta (POLD1) (PubMed:24191025, PubMed:26984527)., [UniProtKB, PubMed, PubMed]; Knockout of AMD-associated gene POLDIP2 reduces mitochondrial superoxide in human retinal pigment epithelial cells., [RefSeq, PubMed]; Metabolic regulation of the proteasome under hypoxia by Poldip2 controls fibrotic signaling in vascular smooth muscle cells., [RefSeq, PubMed]; PDIP38 is located in the mitochondrial matrix. TFAM and mitochondrial single-stranded DNA binding protein (mtSSB) are co-immunoprecipitated with PDIP38, [RefSeq, PubMed]; PDIP38 might play a role in the pol delta-mediated viral DNA replication, [RefSeq, PubMed]; Poldip2/Nox4 Mediates Lipopolysaccharide-Induced Oxidative Stress and Inflammation in Human Lung Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R846;Q96JE4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005911 cell-cell junction;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0006281 DNA repair;GO:0090307 mitotic spindle assembly;GO:0051894 positive regulation of focal adhesion assembly;GO:1904707 positive regulation of vascular associated smooth muscle cell proliferation;GO:0070987 error-free translesion synthesis", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9Y2S7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P031-1", "uniprot_id": "TAP26_HUMAN", "mass": 28670.0, "length": 241, "protein_name": "Thyroid transcription factor 1-associated protein 26", "gene_name": "CCDC59", "organism": "Human", "refseq_name": "thyroid transcription factor 1-associated protein 26", "refseq_ac": "NP_054886", "gene_names_uniprotkb": "CCDC59; BR22; HSPC128; TAP26", "gene_names_refseq": "BR22; CCDC59; HSPC128; TAP26", "protein_names_uniprotkb": "Thyroid transcription factor 1-associated protein 26; Coiled-coil domain-containing protein 59; TTF-1-associated protein 26; TTF-1-associated protein BR2", "protein_names_refseq": "TTF-1-associated protein 26; TTF-1-associated protein BR2; coiled-coil domain-containing protein 59; thyroid transcription factor 1-associated protein 26", "tax_id": 9606, "disease": "", "pathway": " (hsa:29080); (R-HSA-5683826)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10368295;10485905;10496952;10580105;10625644;11152647;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;24714562;24715725;24743970;2515193;25418920;25424900;25576301;25645385;25802875;2587265;25880248;2610270;26375851;26728094;26992070;28228285;28832583;28834231;28904123;29242379;29371260;29493099;29508533;29557506;29632046;29786170;2995821;30315122;3037072;30410026;30429286;30779550;30833945;31154438;31844290;31848261;32157095;32265295;32357974;32897882;32938616;32983136;33091337;33537174;33592498;3366248;33691108;33717175;33912179;33968037;34087483;34171305;34185709;34509645;34561969;34631;34932366;35051231;35580925;36010968;36284347;3755136;37938771;3801783;7597036;8314870;8428971;8522976;8527267;8636114;9813380", "class_list": "", "function": "Component of the transcription complexes of the pulmonary surfactant-associated protein-B (SFTPB) and -C (SFTPC). Enhances homeobox protein Nkx-2.1-activated SFTPB and SFTPC promoter activities., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q9H2V5;Q9NW62", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9P031-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NDX5-1", "uniprot_id": "PHC3_HUMAN", "mass": 106162.0, "length": 983, "protein_name": "Polyhomeotic-like protein 3", "gene_name": "PHC3", "organism": "Human", "refseq_name": "polyhomeotic-like protein 3 isoform 2", "refseq_ac": "NP_001295045", "gene_names_uniprotkb": "PHC3; EDR3; PH3", "gene_names_refseq": "EDR3; HPH3; PHC3", "protein_names_uniprotkb": "Polyhomeotic-like protein 3; Early development regulatory protein 3; Homolog of polyhomeotic 3; hPH3", "protein_names_refseq": "early development regulator 3; early development regulatory protein 3; homolog of polyhomeotic 3; polyhomeotic like 3; polyhomeotic-like protein 3 isoform 2; polyhomeotic-like protein 3", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:80012); (R-HSA-2559580); (R-HSA-3108214); (R-HSA-3899300); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4655427); (R-HSA-8939243); (R-HSA-8943724); (R-HSA-8953750); (R-HSA-9976102)", "pathway_count": 11, "publication_count": 288, "publication_id_list": "10.1101/2023.09.13.557529;10347217;10574707;10722742;10772813;10871633;11171983;11237011;11378386;11477070;11545734;11564866;11735126;11781575;11792325;11842083;11889051;11959846;11960997;12004135;12032081;12134156;12150977;12167701;12189133;12193592;12196509;12384788;12421820;12435631;12529333;12679040;12718889;12808055;12909625;13130464;14507994;14532106;14578449;14701874;15014447;15082759;15161980;15175327;15199155;15287722;15355988;15536069;15563468;15592428;15608651;15766567;15823533;15829507;15866172;15940266;15958389;15959518;15976810;16030353;16098147;16186825;16337592;16418168;16436515;16478998;16608850;16626738;16676006;16688858;16702404;16757475;16810316;16826196;16917507;17001316;17018294;17079232;17081986;17210787;17254968;17255097;17298944;17332741;17344414;17369852;17395714;17525332;17535915;17600109;17693435;17765224;17803295;17825402;17873065;17875933;17942393;17974977;18082607;18172008;18211901;18220336;18339323;18365017;18391013;18408014;18487508;18488044;18562691;18625722;18628979;18669648;18691969;18695000;18708356;18762900;18793328;19240082;19287951;19440552;19450230;19451217;19451218;19462008;19528227;19596686;19615980;19622798;19636380;19690332;19706679;19779455;19884659;19956565;19995069;20016594;20016603;20068230;20068231;20098713;20176810;20190268;20233713;20305658;20351170;20417598;20506188;20516213;20676127;20705237;20797632;20797634;21098080;21147198;21284855;21289308;21338522;21527249;21550342;21596310;21647297;21986495;22020331;22128185;22325351;22325352;22336108;22402492;22467880;22493095;22508508;22635276;22661230;22683641;22713328;22751501;22825850;23092970;23186163;23287862;23301498;23404503;23673342;23750026;23871147;23954429;24027577;24068740;24275569;24369422;24627085;24715725;24718924;24782567;25114211;25218447;25391492;25505266;25645385;25704882;25728608;25800734;26343356;26910647;27068747;27114449;27655845;28411811;28604694;29237092;29351928;29485866;29557506;30059200;30315122;30379171;30620550;31092671;31217245;31492838;31530632;31637018;31844290;31848261;32157095;32161166;32387766;32574038;32938616;32938750;32983136;33214551;33592498;33912179;33968037;33981976;34019948;34087483;34509645;34846842;35051231;35132862;35254053;35289036;35513511;35580925;36010968;37340703;37468993;37541260;38665916;39302247;39531497;39534244;40136647;40307207;40596516;7535770;7588633;7623816;7816143;7859739;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8741839;8774846;8846784;8974401;9030721;9162092;9195981;9412458;9452416;9501179;9529249;9564042;9628874;9689056;9704927;9756909;9768359;9824166;9885291", "class_list": "", "function": "Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility., [UniProtKB, PubMed]; Data show that polycomb-group proteins BMI1, PHC3, CBX6 and CBX7 expression was significantly increased during imatinib treatment., [RefSeq, PubMed]; Expression of circ-PHC3 enhances ovarian cancer progression via regulation of the miR-497-5p/SOX9 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of PHC3 may favor tumorigenesis by potentially disrupting the ability of cells to remain in G(0), [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 33, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 33, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 33, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 36, "binding_glycan_count": 0, "secondary_ac_list": "A2RRP9;Q5HYF0;Q6NSG2;Q8NFT7;Q8NFZ1;Q8TBM2;Q9H971;Q9H9I4", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0031519 PcG protein complex;GO:0035102 PRC1 complex", "go_biological_process": "GO:0045892 negative regulation of DNA-templated transcription;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 32.6, "record_id": "Q8NDX5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96QU1-1", "uniprot_id": "PCD15_HUMAN", "mass": 216069.0, "length": 1955, "protein_name": "Protocadherin-15", "gene_name": "PCDH15", "organism": "Human", "refseq_name": "protocadherin-15 isoform CD1-4 precursor", "refseq_ac": "NP_149045", "gene_names_uniprotkb": "PCDH15; USH1F", "gene_names_refseq": "CDHR15; DFNB23; PCDH15; USH1F", "protein_names_uniprotkb": "Protocadherin-15", "protein_names_refseq": "cadherin-related family member 15; protocadherin-15 isoform CD1-4 precursor", "tax_id": 9606, "disease": "Usher syndrome (Disease Ontology:DOID:0050439); Usher syndrome type 1B (Disease Ontology:DOID:0070655); autosomal recessive nonsyndromic deafness 23 (Disease Ontology:DOID:0110481); Usher syndrome type 1D (Disease Ontology:DOID:0110831); Usher syndrome type 1F (Disease Ontology:DOID:0110832)", "pathway": " (hsa:65217); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "10025409;10821263;11163272;11237011;11398101;11487575;14570705;15537665;15660226;16369489;17706913;18719945;22815625;25418920;25645385;26154972;28228285;28281779;28514659;29557506;29632711;30192525;30779550;31844290;32357974;32387766;32502341;32938616;33141586;33392160;33592498;33981976;34509645;35051231;35494241;36241641;39187782;39298473", "class_list": "", "function": "A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree. Publication Status: Online-Only, [RefSeq, PubMed]; Both mouse and human protocadherin 15 genes have complex genomic structures and transcription control mechanisms., [RefSeq, PubMed]; Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function., [UniProtKB]; Mutations cause Usher syndrome type 1F. Protocadherins are essential for maintenance of normal retinal and cochlear function. Erratum:[Hum Mol Genet 2001 Oct 15;10(22):2603. Hagemen GS [corrected to Hageman GS]], [RefSeq, PubMed]; Nanomechanics of wild-type and mutant dimers of the inner-ear tip-link protein protocadherin 15., [RefSeq, PubMed]; Study of PCDH15 mutations in nonsyndromic deafness DFNB23 and type 1 Usher syndrome, [RefSeq, PubMed]; This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]., [RefSeq]", "predicted_glycosites": 15, "predicted_n_glycosites": 13, "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": 175, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A0A2R8Y6C0;A6NL19;C6ZEF5;C6ZEF6;C6ZEF7;Q5VY38;Q5VY39;Q6TRH8;Q8NDB9;Q96QT8", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0007155 cell adhesion;GO:0007601 visual perception;GO:0045494 photoreceptor cell maintenance;GO:0007605 sensory perception of sound;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96QU1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P29122-1", "uniprot_id": "PCSK6_HUMAN", "mass": 106420.0, "length": 969, "protein_name": "Proprotein convertase subtilisin/kexin type 6", "gene_name": "PCSK6", "organism": "Human", "refseq_name": "proprotein convertase subtilisin/kexin type 6 isoform i preproprotein", "refseq_ac": "NP_001278238", "gene_names_uniprotkb": "PCSK6; PACE4", "gene_names_refseq": "PACE4; PCSK6; SPC4", "protein_names_uniprotkb": "Proprotein convertase subtilisin/kexin type 6; 3.4.21.-; Paired basic amino acid cleaving enzyme 4; SPC4; Subtilisin-like proprotein convertase 4; Subtilisin/kexin-like protease PACE4", "protein_names_refseq": "paired basic amino acid cleaving enzyme 4; paired basic amino acid cleaving system 4; proprotein convertase subtilisin/kexin type 6 isoform i preproprotein; subtilisin-like proprotein convertase 4; subtilisin/kexin-like protease PACE4", "tax_id": 9606, "disease": "", "pathway": " (hsa:5046); (R-HSA-1181150); (R-HSA-167060); (R-HSA-6809371); (R-HSA-8963889); (R-HSA-9768727)", "pathway_count": 6, "publication_count": 139, "publication_id_list": "10.1101/2023.09.13.557529;10066784;10196183;10215603;10231017;10411887;10473623;10588656;10771479;10822381;10900462;10934479;11024047;11237011;11294908;11350120;11380615;11389842;11485994;11590230;11779503;11779505;12063393;12592392;12787574;12902340;1301939;14978253;15033990;15150278;15284087;15337775;15350224;15485907;15531507;15797384;15800215;15803139;16061697;16109723;16260601;16433634;16639001;17088546;17261850;17272273;1741956;17515931;17562024;17596512;17883852;17994020;17997385;18491227;18843291;19114992;19190773;19194479;19304573;19361614;19415658;20179351;20356926;20581395;20657595;20667819;20694664;20940292;21356369;21383881;21439340;21532621;21654840;21666694;21719679;21844202;21997417;22262056;22375065;22569073;22740495;23020258;23150577;23629652;24397894;24681004;24909692;24960069;24966173;25387803;25926655;26390218;26416966;26933753;26934567;26934667;26992070;27255086;28512129;28832583;29557506;30410026;30459171;30833945;31611695;32157095;32350084;32488085;32897882;34171305;34301174;35051231;35251023;35410344;36241641;36780644;38216110;7543090;7592670;7982500;8020465;8179631;8485124;8615794;8824274;8878477;8906861;8999895;9136889;9192737;9288972;9311995;9378725;9379936;9395522;9565599;9670020;9702198;9738469", "class_list": "", "function": "PACE4-altCT isoform of proprotein convertase PACE4 as tissue and plasmatic biomarker for prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PCSK6 and Survival in Idiopathic Pulmonary Fibrosis., [RefSeq, PubMed]; PCSK6 exacerbates Alzheimer's disease pathogenesis by promoting MT5-MMP maturation., [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 secretory pathway, with unique restricted distribution in both neuroendocrine and non-neuroendocrine tissues., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]., [RefSeq]; Up-regulation of microRNA-135 or silencing of PCSK6 attenuates inflammatory response in preeclampsia by restricting NLRP3 inflammasome. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "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": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q15099;Q15100;Q9UEG7;Q9UEJ1;Q9UEJ2;Q9UEJ7;Q9UEJ8;Q9UEJ9;Q9Y4G9;Q9Y4H0;Q9Y4H1", "ec_number_list": "3.1.1.32;3.1.1.34;3.4.21.75;3.4.21.-;3.4.21.109", "go_molecular_function": "GO:0048406 nerve growth factor binding;GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008201 heparin binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0032902 nerve growth factor production;GO:0016485 protein processing;GO:0016486 peptide hormone processing;GO:0032940 secretion by cell;GO:0030510 regulation of BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "P29122-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96GQ5-1", "uniprot_id": "RUSF1_HUMAN", "mass": 51018.0, "length": 468, "protein_name": "RUS family member 1", "gene_name": "RUSF1", "organism": "Human", "refseq_name": "RUS family member 1", "refseq_ac": "NP_073581", "gene_names_uniprotkb": "RUSF1; C16orf58", "gene_names_refseq": "C16orf58; RUSF1; RUS", "protein_names_uniprotkb": "RUS family member 1", "protein_names_refseq": "RUS family member 1; RUS1 family protein C16orf58; RUS1 homolog; UPF0420 protein C16orf58; root UVB sensitivity", "tax_id": 9606, "disease": "", "pathway": " (hsa:64755)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;16959974;19515790;22645359;22898188;23186163;23481700;24715725;25418920;25576301;25892735;26154972;26811146;26929215;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30524438;31154438;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34561969;35051231;35580925;36010968;36215666;36241641;36284347", "class_list": "", "function": "Functional characterization of related Arabidopsis proteins that contain a DUF647 domain and are involved in UV-B sensing in roots. C16orf58 is the closest human homolog., [RefSeq, PubMed]; This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q53GL8;Q8NAJ4;Q9BVY3;Q9H887", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q96GQ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15413-1", "uniprot_id": "RYR3_HUMAN", "mass": 552042.0, "length": 4870, "protein_name": "Ryanodine receptor 3", "gene_name": "RYR3", "organism": "Human", "refseq_name": "ryanodine receptor 3 isoform 1", "refseq_ac": "NP_001027", "gene_names_uniprotkb": "RYR3; HBRR", "gene_names_refseq": "CMYO20; CMYP20; RYR-3; RYR3", "protein_names_uniprotkb": "Ryanodine receptor 3; Brain ryanodine receptor-calcium release channel; Brain-type ryanodine receptor; RYR-3; RyR3; Type 3 ryanodine receptor", "protein_names_refseq": "brain ryanodine receptor-calcium release channel; brain-type ryanodine receptor; ryanodine receptor 3 isoform 1; type 3 ryanodine receptor", "tax_id": 9606, "disease": "congenital myopathy 20 (Disease Ontology:DOID:0081352); pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714); alcohol use disorder (Disease Ontology:DOID:1574); congenital myopathy 1A (Disease Ontology:DOID:3529); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); malignant hyperthermia (Disease Ontology:DOID:8545)", "pathway": " (hsa:6263); (R-HSA-2672351); (R-HSA-5578775)", "pathway_count": 3, "publication_count": 172, "publication_id_list": "10220561;10564087;10642508;10720933;10767424;10830164;10831588;10913253;11062458;11182090;11237011;11588175;11687798;11734858;11842292;11904445;11904675;11956057;12119109;12354756;12393854;12832055;12907679;12953268;1320290;1379744;14584882;14634667;15010458;15044642;15147738;15174025;15260953;15318163;15504734;15505377;15598648;15754088;15916532;15919655;16219661;16754674;16813530;16849430;16850186;1693919;17224452;17357072;17381423;17448995;17486119;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;18995841;19153159;19278978;19307298;19380724;19387438;19620632;19751721;19808995;19953639;20388639;20388710;20466723;20525693;20538786;21040849;21108950;21527911;21984732;22002868;22100703;22210847;2226863;22427649;22705209;22707725;22773952;22946059;22972900;2298749;23112050;2321095;23362265;23549614;23610579;23616951;2430951;2477373;2536303;2559024;25892735;25994790;26359375;26562072;26992070;27543614;27858853;28071645;28154142;2838329;28645727;28790369;28827537;29242379;29351928;29393594;29498452;2953725;29557506;29590321;29769354;30192525;30418433;30620550;30779550;31154438;31217245;31230720;31263958;31680123;31844290;31848261;32387766;32488085;32502341;33633747;33968037;34509645;35051231;35254053;37217939;38253038;6328127;7523185;7556644;7588753;7665160;7702581;7795595;7929371;8041726;8112288;8276408;8383669;8533761;8544406;8626462;8798450;8809036;8918259;9037075;9346285;9384575;9395096;9515741;9571199;9607712;9662395;9700209;9719863;9744806", "class_list": "", "function": "A genome-wide linkage scan and regional association fine-mapping identified variants in the RYR3 gene as a quantitative trail locus for plasma adiponectin levels in Chinese population, [RefSeq, PubMed]; Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm in muscle and thereby plays a role in triggering muscle contraction (PubMed:12354756, PubMed:9395096). May regulate Ca(2+) release by other calcium channels. Calcium channel that mediates Ca(2+)-induced Ca(2+) release from the endoplasmic reticulum in non-muscle cells. Contributes to cellular calcium ion homeostasis (By similarity). Plays a role in cellular calcium signaling., [UniProtKB, PubMed, PubMed, UniProtKB]; Mutations in RYR3 Gene is associated with Gender Dysphoria. Publication Status: Online-Only, [RefSeq, PubMed]; RYR3 variants are associated with risk of and age of onset for hypertension, diabetes, and Alzheimer disease., [RefSeq, PubMed]; RyR3 is expressed in all murine skeletal muscles during the post-natal phase of muscle development and in fewer muscles in adult mice. In agreement, RyR3 KO mice present impaired contractility during the first weeks after birth but not in adult life., [RefSeq, PubMed]; The Ryr Ca2+ release channel is central to cytoplasmic Ca2+ signalling in skeletal muscle, the heart, and many other tissues, playing a vital role in muscular contraction., [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]; The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]; This is the first published report on RyR3 and also establishes the first evidence of wide expression of the RyR3 gene., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 214, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "O15175;Q15412", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005509 calcium ion binding;GO:0015278 intracellularly gated calcium channel activity;GO:0048763 calcium-induced calcium release activity;GO:0005219 ryanodine-sensitive calcium-release channel activity", "go_cellular_component": "GO:0005790 smooth endoplasmic reticulum;GO:0016020 membrane;GO:0042383 sarcolemma;GO:0030018 Z disc;GO:0034704 calcium channel complex", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0006816 calcium ion transport;GO:0006874 intracellular calcium ion homeostasis;GO:0071277 cellular response to calcium ion;GO:0051209 release of sequestered calcium ion into cytosol", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q15413-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6N021-1", "uniprot_id": "TET2_HUMAN", "mass": 223811.0, "length": 2002, "protein_name": "Methylcytosine dioxygenase TET2", "gene_name": "TET2", "organism": "Human", "refseq_name": "methylcytosine dioxygenase TET2 isoform a", "refseq_ac": "NP_001120680", "gene_names_uniprotkb": "TET2; KIAA1546; Nbla00191", "gene_names_refseq": "IMD75; KIAA1546; MDS; TET2", "protein_names_uniprotkb": "Methylcytosine dioxygenase TET2; 1.14.11.80", "protein_names_refseq": "methylcytosine dioxygenase TET2 isoform a; probable methylcytosine dioxygenase TET2; ten-eleven translocation 2; tet oncogene family member 2", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); myelodysplastic syndrome (Disease Ontology:DOID:0050908); colon adenoma (Disease Ontology:DOID:0050912); chronic myelomonocytic leukemia (Disease Ontology:DOID:0080188); stomach cancer (Disease Ontology:DOID:10534); breast cancer (Disease Ontology:DOID:1612); myeloproliferative neoplasm (Disease Ontology:DOID:2226); colon adenocarcinoma (Disease Ontology:DOID:234); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); primary immunodeficiency disease (Disease Ontology:DOID:612); hepatocellular carcinoma (Disease Ontology:DOID:684); polycythemia vera (Disease Ontology:DOID:8997); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); immunodeficiency 75 (MONDO:MONDO:0030858)", "pathway": " (hsa:54790); (R-HSA-5221030); (R-HSA-9827857)", "pathway_count": 3, "publication_count": 128, "publication_id_list": "11237011;12646957;12880961;18587051;19262599;19262601;19295549;19372255;19372391;19420352;19474426;19483684;19690332;20639862;21057493;21321204;21496894;21817016;21862836;22327402;22645359;22962365;23186163;23222540;23353889;23403289;23481700;23548903;23727577;23812591;24129315;24315485;24357321;24394411;24616531;24714562;24715725;25543152;25548167;25557551;25576301;25880248;25892735;26075789;26154972;26189426;26375851;26414667;26811146;26992070;27846572;28218747;28228285;28514659;28832583;28904123;28985527;29091993;29242379;29437277;29493099;29508533;29557506;29713018;30022161;30315122;30379171;30410026;30590035;30833945;31187595;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32127035;32157095;32357974;32387766;32488085;32502341;32518946;32574038;32897882;32938616;32938750;32983136;33141586;33298915;33392160;33470497;33608411;33633747;33717175;33912179;33968037;33981976;34019948;34065661;34087483;34171305;34509645;34846842;34932366;35051231;35254053;35289036;35318648;35411086;35494241;35513511;35580925;36010968;36241641;36581221;37217939;37541260;37938771;38926973;39118077;39187151;39292770;39358506;39531497;39567688", "class_list": "", "function": "Dioxygenase that catalyzes the conversion of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC) and plays a key role in active DNA demethylation. Has a preference for 5-hydroxymethylcytosine in CpG motifs. Also mediates subsequent conversion of 5hmC into 5-formylcytosine (5fC), and conversion of 5fC to 5-carboxylcytosine (5caC). Conversion of 5mC into 5hmC, 5fC and 5caC probably constitutes the first step in cytosine demethylation. Methylation at the C5 position of cytosine bases is an epigenetic modification of the mammalian genome which plays an important role in transcriptional regulation. In addition to its role in DNA demethylation, also involved in the recruitment of the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes, thereby promoting histone H2B GlcNAcylation by OGT., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Effects of TET2-mediated methylation reconstruction on A2058 melanoma cell sensitivity to matrix stiffness in a 3D culture system., [RefSeq, PubMed]; Hypermethylated RASAL1's promotive role in chemoresistance and tumorigenesis of choriocarcinoma was regulated by TET2 but not DNMTs. Publication Status: Online-Only, [RefSeq, PubMed]; Looked for the presence of TET2 mutations in myeloid malignancies other than MPN, including chronic myelomonocytic leukemia (CMML), myelodysplastic syndrome (MDS), 'MDS/MPN' and acute myeloid leukemia (AML), [RefSeq, PubMed]; Loss-of-function mutations in TET2 occur at a high frequency in systemic mastocytosis, and are associated with KITD816V mutations. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; NF-kappaB and TET2 promote macrophage reprogramming in hypoxia that overrides the immunosuppressive effects of the tumor microenvironment., [RefSeq, PubMed]; RNA m[5]C oxidation by TET2 regulates chromatin state and leukaemogenesis., [RefSeq, PubMed]; TET2 mutations occur in both JAK2V617F-positive and -negative myeloproliferative neoplasms. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]; [Relationship between DTA Mutations and Thromboembolism in Patients with Myeloproliferative Neoplasms]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_phosphosites": 8, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 149, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 17, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B5MDU0;Q2TB88;Q3LIB8;Q96JX5;Q9HCM6;Q9NXW0", "ec_number_list": "1.14.11.80", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0008198 ferrous iron binding;GO:0070579 DNA 5-methylcytosine dioxygenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0044029 positive regulation of gene expression via chromosomal CpG island demethylation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006493 protein O-linked glycosylation;GO:0002521 leukocyte differentiation;GO:0030099 myeloid cell differentiation", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "Q6N021-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7W0-1", "uniprot_id": "PRR29_HUMAN", "mass": 20715.0, "length": 189, "protein_name": "Proline-rich protein 29", "gene_name": "PRR29", "organism": "Human", "refseq_name": "proline-rich protein 29 isoform 2", "refseq_ac": "NP_001157729", "gene_names_uniprotkb": "PRR29; C17orf72", "gene_names_refseq": "C17orf72; PRR29", "protein_names_uniprotkb": "Proline-rich protein 29", "protein_names_refseq": "proline-rich protein 29 isoform 2; proline-rich protein 29", "tax_id": 9606, "disease": "", "pathway": " (hsa:92340)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;29557506;30379171;35580925", "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KMP0;B4DZJ9;B4E2F8;E9PGL5;J3QKX4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P0C7W0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NXZ1-1", "uniprot_id": "SAGE1_HUMAN", "mass": 99225.0, "length": 904, "protein_name": "Sarcoma antigen 1", "gene_name": "SAGE1", "organism": "Human", "refseq_name": "sarcoma antigen 1", "refseq_ac": "NP_061136", "gene_names_uniprotkb": "SAGE1; SAGE", "gene_names_refseq": "CT14; SAGE1; SAGE", "protein_names_uniprotkb": "Sarcoma antigen 1; CT14; Cancer/testis antigen 14", "protein_names_refseq": "cancer/testis antigen 14; putative tumor antigen; sarcoma antigen 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55511)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10919659;16061876;18669648;18691976;23186163;26252478;27862975;27869121;28832583;29242379;31092671;31429579;31844290;32488085;32600281;32938616;32983136;33592498;34465596;35051231;35580925;37074911", "class_list": "", "function": "ADAM2, CALR3 and SAGE1 cancer/testis antigens are not promising targets for immunotherapy of breast and lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MAGE-A4(143-151) and SAGE(715-723) are HLA-A2402-restricted CTL epitopes, [RefSeq, PubMed]; MAGE-A4, NY-ESO-1 and SAGE mRNA expression rates and co-expression relationships in solid tumours. Publication Status: Online-Only, [RefSeq, PubMed]; SAGE1: a Potential Target Antigen for Lung Cancer T-Cell Immunotherapy., [RefSeq, PubMed]; This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5JNW0", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0032039 integrator complex", "go_biological_process": "GO:0034472 snRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9NXZ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q00887-1", "uniprot_id": "PSG9_HUMAN", "mass": 48272.0, "length": 426, "protein_name": "Pregnancy-specific beta-1-glycoprotein 9", "gene_name": "PSG9", "organism": "Human", "refseq_name": "pregnancy-specific beta-1-glycoprotein 9 isoform 3 precursor", "refseq_ac": "NP_001288637", "gene_names_uniprotkb": "PSG9; PSG11", "gene_names_refseq": "PS-beta-B; PS-beta-G-9; PS34; PSBG-9; PSG11; PSG9; PSGII", "protein_names_uniprotkb": "Pregnancy-specific beta-1-glycoprotein 9; PS-beta-B; PS-beta-G-11; PS-beta-G-9; PS34; PSBG-11; PSBG-9; PSG7; Pregnancy-specific beta-1 glycoprotein B; Pregnancy-specific beta-1-glycoprotein 11; Pregnancy-specific glycoprotein 11; Pregnancy-specific glycoprotein 7; Pregnancy-specific glycoprotein 9", "protein_names_refseq": "pregnancy-specific beta-1 glycoprotein B; pregnancy-specific beta-1-glycoprotein 9 isoform 3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5678); (R-HSA-202733)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;14529530;14615387;15000751;15528364;15681301;15721307;1581354;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;1922019;19279206;21193412;21659548;2322584;2328001;2341148;23945545;24043627;24764293;2538457;27389696;27528036;28078509;29557506;29770948;35322669;36284347;38253038;468991;7509040;7521878;7806221;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Binds to the small latent transforming growth factor-beta complex, consisting of the N-terminal TGFB1 latency-associated peptide (LAP) and the mature form of TGFB1, thereby leading to the activation of TGFB1 (PubMed:27389696). The activation of TGFB1 leads to stimulation of naive CD4(+) T-cells to increase FoxP3 expression and to an increase in the number of FoxP3(+) regulatory T-cells (PubMed:27389696). Induces the differentiation of a suppressive CD4(+)LAP(+)FoxP3(-) T-cell subset (PubMed:27389696). Induces the secretion of TGFB1 in macrophages, but not in activated CD4(+) T-cells (PubMed:27389696). May reduce the expression of several pro-inflammatory cytokines and chemokines by CD4(+) T-cells, including IL2 and IL6 (PubMed:27389696)., [UniProtKB, PubMed]; Findings illustrate the innovative mechanism by which PSG9 drives the progression of colorectal cancer and tumor angiogenesis. This occurs via nuclear translocation of PSG9/SMAD4, which activates angiogenic cytokines., [RefSeq, PubMed]; PSG7 and 9 (Pregnancy-Specific beta-1 Glycoproteins 7 and 9): Novel Biomarkers for Preeclampsia., [RefSeq, PubMed]; Plasma OPN + MMP7 + PSG9 elevation in combination was a prognostic factor for overall survival in hepatocellular carcinoma, [RefSeq, PubMed]; Results indicate that pregnancy-specific glycoprotein 9 (PSG9) may facilitate the development of hepatocellular carcinoma (HCC) by fostering angiogenesis via promoting VEGFA production in cancer HCC., [RefSeq, PubMed]; The protein encoded by this gene is a member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 43, "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": "B2R869;Q15227;Q15236;Q15237;Q8WW78;Q9UQ73", "ec_number_list": "", "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0070021 transforming growth factor beta ligand-receptor complex", "go_biological_process": "GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0007565 female pregnancy;GO:1900016 negative regulation of cytokine production involved in inflammatory response;GO:0002774 Fc receptor mediated inhibitory signaling pathway;GO:0060391 positive regulation of SMAD protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q00887-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1Y3-1", "uniprot_id": "OPN3_HUMAN", "mass": 44873.0, "length": 402, "protein_name": "Opsin-3", "gene_name": "OPN3", "organism": "Human", "refseq_name": "opsin-3 isoform 1", "refseq_ac": "NP_055137", "gene_names_uniprotkb": "OPN3; ECPN", "gene_names_refseq": "ECPN; OPN3; PPP1R116", "protein_names_uniprotkb": "Opsin-3; Encephalopsin; Panopsin", "protein_names_refseq": "opsin 3 (encephalopsin, panopsin); opsin-3 isoform 1; protein phosphatase 1, regulatory subunit 116", "tax_id": 9606, "disease": "", "pathway": " (hsa:23596); (R-HSA-418594); (R-HSA-419771)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10234000;10581022;10632589;11007482;11237011;11401433;12063405;12120503;12242008;1302020;14623103;14623461;1531728;1557123;15674243;15951850;16634148;16923326;18434541;18577758;2534964;26768311;26992070;2748346;28218747;28228285;2834384;28834231;28842328;28904123;2937147;29437277;29557506;30168605;30284927;30429286;30779550;31097585;31154438;31380578;31730232;31844290;32350084;32488085;32502341;32938616;33141586;33392160;33912179;34171305;34185709;34357683;34509645;35051231;35580925;36241641;36284347;36869204;37823488;37938771;38284195;38548258;39951488;6589631;7937899;7947717;8015379;8406495;9275222", "class_list": "", "function": "Assignment of panopsin (OPN3) to human chromosome band 1q43, [RefSeq, PubMed]; Downregulation of OPN3 Gene Induces Ferroptosis, Apoptosis, and Pyroptosis of Human Dermal Fibroblasts In Vitro., [RefSeq, PubMed]; G protein-coupled photoreceptor that selectively activates G(i/o) proteins in response to light, thereby decreasing intracellular cAMP levels (PubMed:28842328, PubMed:30168605, PubMed:31380578, PubMed:36869204). Activation occurs when the opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers a G protein-mediated phototransduction cascade (PubMed:36869204). Mediates blue light-induced pigmentation in melanocytes by activating calcium/CAMK2 signaling, followed by phosphorylation of CREB, p38, ERK and MITF. Required for TYR and DCT blue light-induced complex formation in melanocytes (PubMed:28842328). Involved in keratinocyte differentiation in response to blue-light (PubMed:30168605). Plays a role in melanocyte survival through regulation of intracellular calcium levels and subsequent BCL2/RAF1 signaling. Additionally, regulates apoptosis via cytochrome c release and subsequent activation of the caspase cascade (PubMed:31730232). Responsible for ultraviolet A (UVA)-induced keratinocytes supranuclear melanin cap formation via activating calcium/CAMK2, CREB, and Akt signal transduction, and ultimately increasing DYNC1I1 and DCTN1 expression levels, thereby playing a role in the skin response to UV radiation (PubMed:36869204). Required for the UVA-mediated induction of calcium and MAPK signaling resulting in the expression of MMP1, MMP2, MMP3, MMP9 and TIMP1 in dermal fibroblasts (PubMed:31380578). Also plays a role in light-mediated glucose uptake, mitochondrial respiration and fatty acid metabolism in brown adipocyte tissues. May be involved in photorelaxation of airway smooth muscle cells, via blue light-dependent GPCR signaling pathways (By similarity). Also inhibits melanogenesis in melanocytes by specifically inhibiting MC1R-evoked cAMP signaling in a constitutive, light-independent manner (PubMed:31097585). In the paraventricular nucleus of the hypothalamus, inhibits MC4R-mediated cAMP signaling and activates KCNJ13 channel opening in a constitutive manner, thereby promoting food intake and modulating spontaneous firing of neurons (PubMed:39951488)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human OPN3 gene consists of six exons and expresses various splice variants., [RefSeq, PubMed]; In vitro differentiation of human amniotic epithelial stem cells into keratinocytes regulated by OPN3., [RefSeq, PubMed]; Opsin 3 expression in human Langerhans cell histiocytosis and its mediation of ELD-1 cellular function. Erratum:[Eur J Dermatol. 2024 Oct 1;34(5):583. doi: 10.1684/ejd.2024.4793. PMID: 39589064], [RefSeq, PubMed]; Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. In addition to the visual opsins, mammals possess several photoreceptive non-visual opsins that are expressed in extraocular tissues. This gene, opsin 3, is strongly expressed in brain and testis and weakly expressed in liver, placenta, heart, lung, skeletal muscle, kidney, and pancreas. The gene may also be expressed in the retina. The protein has the canonical features of a photoreceptive opsin protein. [provided by RefSeq, Jul 2008]., [RefSeq]; Related persons with heterozygous germline deletions of 1q42.3, which includes EXO1, RGS7, KMO, CHML, and OPN3, showed no phenotypic abnormalities other than multiple leiomyomatosis., [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": 1, "reported_glycation": 0, "reported_snv": 17, "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": "Q8IX08;Q9Y344", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005503 all-trans retinal binding;GO:0005502 11-cis retinal binding;GO:0008020 G protein-coupled photoreceptor activity;GO:0009881 photoreceptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0009583 detection of light stimulus;GO:1904000 positive regulation of eating behavior;GO:0048022 negative regulation of melanin biosynthetic process;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9H1Y3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q08357-1", "uniprot_id": "S20A2_HUMAN", "mass": 70392.0, "length": 652, "protein_name": "Sodium-dependent phosphate transporter 2", "gene_name": "SLC20A2", "organism": "Human", "refseq_name": "sodium-dependent phosphate transporter 2", "refseq_ac": "NP_001244109", "gene_names_uniprotkb": "SLC20A2; GLVR2; PIT2", "gene_names_refseq": "GLVR-2; GLVR2; IBGC1; IBGC2; IBGC3; MLVAR; PIT-2; PIT2; RAM1; Ram-1; SLC20A2", "protein_names_uniprotkb": "Sodium-dependent phosphate transporter 2; GLVR-2; Gibbon ape leukemia virus receptor 2; Phosphate transporter 2; PiT-2; Pit2; Solute carrier family 20 member 2; hPit2", "protein_names_refseq": "epididymis secretory sperm binding protein; gibbon ape leukemia virus receptor 2; murine leukemia virus, amphotropic, receptor for; murine leukemia virus, amphotropic; receptor; sodium-dependent phosphate transporter 2; solute carrier family 20 (phosphate transporter), member 2", "tax_id": 9606, "disease": "basal ganglia calcification (Disease Ontology:DOID:0060230)", "pathway": " (hsa:6575); (R-HSA-427652); (R-HSA-5619111)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;10516278;11237011;11356966;11435563;12205090;15955065;16790504;17081983;17494632;18083107;18578522;19413330;19651622;20068231;2078500;22327515;23186163;23334463;23406454;23481700;23939468;24065723;24275569;24463626;25284758;25576301;25645385;25880248;26992070;28722801;29242379;29557506;29786170;30429286;30704756;31020640;31154438;31222486;31844290;31848261;32161166;32350084;32488085;32938616;33691108;33912179;33968037;34171305;34357683;35051231;35154160;35580925;35881308;36010968;36284347;36465661;37341843;8288239;8302848;9151850", "class_list": "", "function": "(Microbial infection) Functions as a retroviral receptor and confers human cells susceptibility to infection to amphotropic murine leukemia virus (A-MuLV), 10A1 murine leukemia virus (10A1 MLV) and some feline leukemia virus subgroup B (FeLV-B) variants., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype., [RefSeq, PubMed]; Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity., [RefSeq, PubMed]; PiT2 deficiency prevents increase of bone marrow adipose tissue during skeletal maturation but not in OVX-induced osteoporosis. Publication Status: Online-Only, [RefSeq, PubMed]; Sodium-phosphate symporter which preferentially transports the monovalent form of phosphate with a stoichiometry of two sodium ions per phosphate ion (PubMed:12205090, PubMed:15955065, PubMed:16790504, PubMed:17494632, PubMed:22327515, PubMed:28722801, PubMed:30704756). Plays a critical role in the determination of bone quality and strength by providing phosphate for bone mineralization (By similarity). Required to maintain normal cerebrospinal fluid phosphate levels (By similarity). Mediates phosphate-induced calcification of vascular smooth muscle cells (VCMCs) and can functionally compensate for loss of SLC20A1 in VCMCs (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0001618 virus receptor activity;GO:0005315 phosphate transmembrane transporter activity;GO:0038023 signaling receptor activity;GO:0005436 sodium:phosphate symporter activity;GO:0015293 symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane", "go_biological_process": "GO:0030501 positive regulation of bone mineralization;GO:0035435 phosphate ion transmembrane transport;GO:0006814 sodium ion transport;GO:0006817 phosphate ion transport", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q08357-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NCC3-1", "uniprot_id": "PAG15_HUMAN", "mass": 46658.0, "length": 412, "protein_name": "Lysosomal phospholipase A and acyltransferase", "gene_name": "PLA2G15", "organism": "Human", "refseq_name": "lysosomal phospholipase A and acyltransferase isoform 1 precursor", "refseq_ac": "NP_036452", "gene_names_uniprotkb": "PLA2G15; LYPLA3; PRO540", "gene_names_refseq": "ACS; GXVPLA2; LLPL; LPLA2; LYPLA3; PLA2G15", "protein_names_uniprotkb": "Lysosomal phospholipase A and acyltransferase; 1-O-acylceramide synthase; 2.3.1.-; 3.1.1.32; 3.1.1.4; 3.1.1.5; ACS; LCAT-like lysophospholipase; LLPL; LPLA2; Lysophospholipase 3; Lysosomal phospholipase A2; PLA2G15; Phospholipase A2 group XV", "protein_names_refseq": "1-O-acylceramide synthase; BMP hydrolase; LCAT-like lysophospholipase; group XV phospholipase A2; lysophospholipase 3 (lysosomal phospholipase A2); lysosomal phospholipase A and acyltransferase isoform 1 precursor; lysosomal phospholipase A and acyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:23659); (R-HSA-1483115)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10.1101/2023.09.13.557529;10092508;11237011;11790796;12975309;15340161;15944408;19019078;19501189;20410020;20705608;23090970;23958596;24190977;24715725;25645385;25727495;25880248;27397612;28467828;29242379;29393594;29724779;29741879;30573663;30830753;31222486;31844290;31848261;32161166;32350084;32387766;32488085;32938616;32983136;33123756;33298915;33307060;33592498;33968037;33981976;34357683;34405274;34509645;35051231;36010968;36823305;37074911;8083230;9525960", "class_list": "", "function": "Has dual calcium-independent phospholipase and O-acyltransferase activities with a potential role in glycerophospholipid homeostasis and remodeling of acyl groups of lipophilic alcohols present in acidic cellular compartments (PubMed:10092508, PubMed:11790796, PubMed:20410020, PubMed:23958596, PubMed:25727495, PubMed:29724779). Catalyzes hydrolysis of the ester bond of the fatty acyl group attached at sn-1 or sn-2 position of phospholipids (phospholipase A1 or A2 activity) and transfer it to the hydroxyl group at the first carbon of lipophilic alcohols (O-acyltransferase activity) (PubMed:10092508, PubMed:11790796, PubMed:20410020, PubMed:23958596, PubMed:25727495, PubMed:29724779, PubMed:36823305). Among preferred fatty acyl donors are phosphatidylcholines, phosphatidylethanolamines, phosphatidylglycerols and phosphatidylserines (PubMed:29724779, PubMed:36823305). Favors sn-2 over sn-1 deacylation of unsaturated fatty acyl groups of phosphatidylcholines, phosphatidylethanolamines, and phosphatidylglycerols (PubMed:36823305). Among preferred fatty acyl acceptors are natural lipophilic alcohols including short-chain ceramide N-acetyl-sphingosine (C2 ceramide), alkylacylglycerols, monoacylglycerols, and acylethanolamides such as anandamide and oleoylethanolamide (PubMed:29724779). Selectively hydrolyzes the sn-1 fatty acyl group of truncated oxidized phospholipids and may play a role in detoxification of reactive oxidized phospholipids during oxidative stress (PubMed:30830753). Required for normal phospholipid degradation in alveolar macrophages with potential implications in the clearance of pulmonary surfactant, which is mainly composed of dipalmitoylphosphatidylcholine (1,2-dihexadecanoyl-sn-glycero-3-phosphocholine) (By similarity). Involved in the first step of bis(monoacylglycero)phosphate (BMP) de novo synthesis from phosphatidylglycerol (1,2-diacyl-sn-glycero-3-phospho-(1'-sn-glycerol), PG) (PubMed:36823305). BMP is an important player in cargo sorting and degradation, regulation of cellular cholesterol levels and intercellular communication (PubMed:36823305). At neutral pH, hydrolyzes the sn-1 fatty acyl group of the lysophosphatidylcholines (PubMed:10092508)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008]., [RefSeq]; Phospholipase A2 group XV activity during cardiopulmonary bypass surgery., [RefSeq, PubMed]; Zn(2+) was found to inhibit the esterase activity of LPLA2 in a noncompetitive manner exclusively at a neutral pH (between 6.5 and 8.0). Because lysosomes are reservoirs of Zn(2+) in cells, the pH optimum of LPLA2 might allow it to catalyze acyl transfer unimpeded within the organelle., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 23, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KMF3;B4DUD1;Q53GZ1;Q9NPQ6;Q9UG04;Q9Y2B3", "ec_number_list": "3.1.1.4;3.1.2.2;3.1.1.5;3.1.2.22;3.1.2.-;3.1.1.-;3.1.1.3;3.1.1.23;3.1.-.-;3.1.1.32;3.1.1.34;3.1.1.13;3.1.1.6;1.11.1.27;2.3.1.23;2.3.1.-;3.1.4.-;3.5.1.1;3.1.1.47;3.1.1.111;3.1.1.118;2.3.1.51", "go_molecular_function": "GO:0005543 phospholipid binding;GO:0008270 zinc ion binding;GO:0004622 phosphatidylcholine lysophospholipase activity;GO:0004623 phospholipase A2 activity;GO:0008970 phospholipase A1 activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:0006650 glycerophospholipid metabolic process;GO:0046338 phosphatidylethanolamine catabolic process;GO:0034638 phosphatidylcholine catabolic process;GO:0009062 fatty acid catabolic process;GO:0006672 ceramide metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q8NCC3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BTD8-1", "uniprot_id": "RBM42_HUMAN", "mass": 50414.0, "length": 480, "protein_name": "RNA-binding protein 42", "gene_name": "RBM42", "organism": "Human", "refseq_name": "RNA-binding protein 42 isoform 2", "refseq_ac": "NP_001306042", "gene_names_uniprotkb": "RBM42", "gene_names_refseq": "RBM42", "protein_names_uniprotkb": "RNA-binding protein 42; RNA-binding motif protein 42", "protein_names_refseq": "RNA-binding protein 42 isoform 2; RNA-binding protein 42", "tax_id": 9606, "disease": "", "pathway": " (hsa:79171); (R-HSA-72163)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19170760;19536130;19651622;20068231;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23222130;23236153;23301498;23345524;23481700;24129315;24196718;24304693;24448447;24715725;24737827;24914973;25418920;25505266;25555158;25576301;2558966;25645385;26154972;26375851;26385511;26420826;26969736;26992070;27377154;27459055;27543614;27683217;28062851;28076346;28218747;28228285;28502770;28510447;28781166;28832583;28904123;29242379;29301961;29331515;29360106;29361316;29393594;29437277;29485866;29508533;29557506;29632046;29632711;2963332;29786170;30315122;30315277;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31409651;31530632;31844290;31848261;31937595;31998317;32157095;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;33141586;33243851;33298915;33392160;33446560;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34301950;34509645;34561969;34822310;35051231;35251023;35385551;35580925;36010968;36284347;37294900;3757028;37938771;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement., [RefSeq, PubMed]; Binds (via the RRM domain) to the 3'-untranslated region (UTR) of CDKN1A mRNA., [UniProtKB]; HnRNP K and RBM42 have a role in the maintenance of cellular ATP level in the stress conditions possibly through protecting their target mRNAs., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "O00320;Q8N5R7;Q9BU66", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9BTD8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TEU7-1", "uniprot_id": "RPGF6_HUMAN", "mass": 179423.0, "length": 1601, "protein_name": "Rap guanine nucleotide exchange factor 6", "gene_name": "RAPGEF6", "organism": "Human", "refseq_name": "rap guanine nucleotide exchange factor 6 isoform 1", "refseq_ac": "NP_001157858", "gene_names_uniprotkb": "RAPGEF6; PDZGEF2", "gene_names_refseq": "KIA001LB; PDZ-GEF2; PDZGEF2; RA-GEF-2; RAGEF2; RAPGEF6", "protein_names_uniprotkb": "Rap guanine nucleotide exchange factor 6; PDZ domain-containing guanine nucleotide exchange factor 2; PDZ-GEF2; RA-GEF-2", "protein_names_refseq": "PDZ domain containing guanine nucleotide exchange factor (GEF) 2; PDZ domain-containing guanine nucleotide exchange factor 2; PDZ domain-containing guanine nucleotide exchange factor I; Rap guanine nucleotide exchange factor (GEF) 6; rap guanine nucleotide exchange factor 6 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51735)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11524421;12095257;12581858;15302935;15570572;17081983;17322306;17525332;18212344;18452278;18669648;18691976;18767875;19413330;19651622;20068231;23186163;23481700;24714562;24715725;25418920;25576301;25645385;26154972;26375851;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30379171;30410026;30620550;31154438;31217245;31373491;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33691108;33912179;33936100;33968037;34185709;34211107;34357683;34509645;34561969;35051231;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP., [UniProtKB, PubMed, PubMed]; The second PDZ domain from human phosphatase hPTP1E in complex with a C-terminal peptide from the guanine nucleotide exchange factor RA-GEF-2 has been determined, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 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": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A3KN82;A5PLL6;B7ZML2;E9PDV7;Q8NI21;Q8TEU6;Q96PC1", "ec_number_list": "", "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0030742 GTP-dependent protein binding;GO:0070300 phosphatidic acid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0030139 endocytic vesicle", "go_biological_process": "GO:0030033 microvillus assembly;GO:0032486 Rap protein signal transduction;GO:0031175 neuron projection development;GO:0043087 regulation of GTPase activity;GO:0072659 protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q8TEU7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94913-1", "uniprot_id": "PCF11_HUMAN", "mass": 173050.0, "length": 1555, "protein_name": "Pre-mRNA cleavage complex 2 protein Pcf11", "gene_name": "PCF11", "organism": "Human", "refseq_name": "pre-mRNA cleavage complex 2 protein Pcf11 isoform 3", "refseq_ac": "NP_056969", "gene_names_uniprotkb": "PCF11; KIAA0824", "gene_names_refseq": "PCF11", "protein_names_uniprotkb": "Pre-mRNA cleavage complex 2 protein Pcf11; Pre-mRNA cleavage complex II protein Pcf11", "protein_names_refseq": "PCF11, cleavage and polyadenylation factor subunit, homolog; PCF11p homolog; pre-mRNA cleavage complex 2 protein Pcf11 isoform 3; pre-mRNA cleavage complex 2 protein Pcf11; pre-mRNA cleavage complex II protein Pcf11", "tax_id": 9606, "disease": "", "pathway": " (hsa:51585); (R-HSA-6807505); (R-HSA-72187); (R-HSA-73856); (R-HSA-77595); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 166, "publication_id_list": "10022900;10669729;11060040;11237011;11747608;11856838;11979277;12414730;12574128;12871933;14519844;14701755;14749727;14762106;15037765;15084397;15302935;1535687;15565158;15998806;16239144;16308568;16901896;16964243;17081983;17128255;17190602;1739980;17606639;17984224;18079403;18086705;18220336;18288197;1829677;18411249;18452278;18669648;18767875;18957205;19217410;19413330;19651622;19664995;19667075;19690332;19836239;20068231;20457598;20573985;20695905;20844015;2125285;21295486;21406692;21911577;21947206;22137580;22207203;22231121;22252320;22441827;22813749;22928037;23166507;23186163;23222130;23299939;23874216;23932780;24076191;24097444;24129315;24149845;24244187;24270878;24275569;24715725;24997600;25301780;25301781;25469497;25576301;25662211;25675981;25755297;25836925;25880248;26092250;26154972;26811146;26992070;27108190;27503676;27846572;28096519;28510447;28904123;28911096;29186539;29196535;29274231;29351928;2944599;29557506;29902443;30139799;30257008;30379171;30429286;30552333;30599162;30620550;30819644;30840896;31217245;31844290;32157095;32265295;32357974;32387766;32816001;32938616;32938750;32983136;33141586;33177556;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34185709;34211107;34932366;35051231;35132862;35138101;35177536;35215846;35254053;35289036;35513511;35580925;36010968;36241641;38253038;38838015;39531497;39534244;40307207;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9659921;9705341;9832505", "class_list": "", "function": "Component of pre-mRNA cleavage complex II, which promotes transcription termination by RNA polymerase II., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Human PCf11 is a pre-mRNA processing factor., [RefSeq, PubMed]; PCF11 is autoregulated through a conserved IPA site, the removal of which leads to global activation of PASs close to gene promotors. Therefore, PCF11 uses distinct mechanisms to regulate genes of different sizes, and its autoregulation maintains homeostasis of PAS usage in the cell., [RefSeq, PubMed]; PCF11 selectively attenuates the expression of other transcriptional regulators by premature cleavage/polyadenylation and termination., [RefSeq, PubMed]; Pcf11 can act as a negative elongation factor to repress RNA Pol II gene expression in eukaryotic cells., [RefSeq, PubMed]; Pcf11 is required for the efficient degradation of the 3' product of poly(A) site cleavage., [RefSeq, PubMed]; The protein encoded by this gene binds to CLP1 to form pre-mRNA cleavage factor IIm. The encoded protein is necessary for efficient Pol II transcription termination and may be involved in degradation of the 3' product of polyA site cleavage. [provided by RefSeq, Oct 2016]., [RefSeq]; Utilising extensive RNAi-screening authors reveal the landscape and drivers of transcriptome 3'end-diversification, discovering PCF11 as critical regulator, directing alternative polyadenylation (APA) of hundreds of transcripts including a differentiation RNA-operon. Publication Status: Online-Only, [RefSeq, PubMed]; WNK1 and the associated phosphorylation of the PCF11 CID act to promote transcript release from chromatin-associated Pol II, which in turn facilitates mRNA export to the cytoplasm, [RefSeq, PubMed]; We have reconstituted CF II as a heterodimer of hPcf11 and hClp1. The heterodimer is active in partially reconstituted cleavage reactions, whereas hClp1 by itself is not. Pcf11 moderately stimulates the RNA 5' kinase activity of hClp1; the kinase activity is dispensable for RNA cleavage, [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": 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": 31, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6H8W7;O43671;Q6P0X8", "ec_number_list": "", "go_molecular_function": "GO:0003729 mRNA binding;GO:0000993 RNA polymerase II complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005849 mRNA cleavage factor complex", "go_biological_process": "GO:0006369 termination of RNA polymerase II transcription;GO:0031440 regulation of mRNA 3'-end processing;GO:0180010 co-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathway;GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "O94913-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DX4-1", "uniprot_id": "RSPRY_HUMAN", "mass": 64180.0, "length": 576, "protein_name": "RING finger and SPRY domain-containing protein 1", "gene_name": "RSPRY1", "organism": "Human", "refseq_name": "RING finger and SPRY domain-containing protein 1 isoform 1 precursor", "refseq_ac": "NP_001292092", "gene_names_uniprotkb": "RSPRY1; KIAA1972; PRO444", "gene_names_refseq": "RSPRY1; SEMDFA", "protein_names_uniprotkb": "RING finger and SPRY domain-containing protein 1", "protein_names_refseq": "RING finger and SPRY domain-containing protein 1 isoform 1 precursor; RING finger and SPRY domain-containing protein 1", "tax_id": 9606, "disease": "progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (MONDO:MONDO:0014748)", "pathway": " (hsa:89970)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;12975309;25892735;26365341;26992070;28218747;28832583;28904123;29242379;29351928;29437277;29508533;29557506;29769354;30063090;30410026;31844290;32157095;32357974;32502341;32938616;32983136;33717175;33912179;33936100;33968037;34357683;35051231;38562122", "class_list": "", "function": "RSPRY1 Mutations are associated with Progressive Skeletal Dysplasia., [RefSeq, PubMed]; This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]., [RefSeq]; Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia., [RefSeq, PubMed]; We provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability., [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": 20, "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": "Q6UX21;Q8ND53", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:0051603 proteolysis involved in protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q96DX4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2R9-1", "uniprot_id": "RT07_HUMAN", "mass": 28134.0, "length": 242, "protein_name": "Small ribosomal subunit protein uS7m", "gene_name": "MRPS7", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS7m", "refseq_ac": "NP_057055", "gene_names_uniprotkb": "MRPS7", "gene_names_refseq": "COXPD34; MRP-S7; MRP-S; MRPS7; RP-S7; RPMS7; S7mt; bMRP27a; uS7m", "protein_names_uniprotkb": "Small ribosomal subunit protein uS7m; 28S ribosomal protein S7, mitochondrial; MRP-S7; S7mt; bMRP-27a; bMRP27a", "protein_names_refseq": "28S ribosomal protein S7, mitochondrial; 30S ribosomal protein S7 homolog; bMRP-27a; mitochondrial small ribosomal subunit protein uS7m; small ribosomal subunit protein uS7m", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 34 (Disease Ontology:DOID:0111497)", "pathway": " (hsa:51081); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 85, "publication_id_list": "10581179;11237011;11279123;11402041;15358359;17803939;18429816;18782833;19524667;19608861;19716793;20186120;21907147;22172991;22424782;2250005;22645359;23481700;24714562;25233460;25556185;25576301;25645385;25802875;25838379;26154972;26375851;26728094;26811146;26992070;27029019;27600516;27846572;27920218;28218747;28228285;28510447;28649982;28832583;28834231;28892042;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30779550;30833945;31217245;31222486;31844290;31848261;31998317;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33243891;33298915;33537174;33592498;33878294;33968037;33981976;34405274;34561969;35051231;35580925;36010968;36241641;36284347;36302763;36596788;37141370;37938771;38665916", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]., [RefSeq]; Study identified MRPS7 mutation as a novel cause of congenital sensorineural deafness and progressive hepatic and renal failure., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9N5;Q53GD6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9Y2R9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28827-1", "uniprot_id": "PTPRM_HUMAN", "mass": 163682.0, "length": 1452, "protein_name": "Receptor-type tyrosine-protein phosphatase mu", "gene_name": "PTPRM", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase mu isoform 1 precursor", "refseq_ac": "NP_001098714", "gene_names_uniprotkb": "PTPRM; PTPRL1", "gene_names_refseq": "PTPRL1; PTPRM; R-PTP-MU; RPTPM; RPTPU; hR-PTPu", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase mu; 3.1.3.48; Protein-tyrosine phosphatase mu; R-PTP-mu", "protein_names_refseq": "protein tyrosine phosphatase mu; protein tyrosine phosphatase, receptor type, mu polypeptide; receptor-type tyrosine-protein phosphatase mu isoform 1 precursor; receptor-type tyrosine-protein phosphatase mu", "tax_id": 9606, "disease": "pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498)", "pathway": " (hsa:5797)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10.1101/2023.09.13.557529;10753936;11237011;16335952;16456543;1655529;17761881;18578522;18669648;18767875;21998202;22706990;23090970;24190977;25645385;28657654;29242379;29391424;29393594;29557506;29671580;29769354;32157095;32663515;32826853;32938616;33592498;33968037;34019948;34171305;34211107;34225581;35051231;35154160;35251023;35494241;36215666;36284347;36436563;36927043;37074911;37217939;39894887;9346878", "class_list": "", "function": "A quantitative trait GWAS on lens thickness identifies novel risk loci on PTPRM in the narrow angle individuals susceptible to PACG., [RefSeq, PubMed]; Determinants of receptor tyrosine phosphatase homophilic adhesion: Structural comparison of PTPRK and PTPRM extracellular domains., [RefSeq, PubMed]; High expression of PTPRM predicts poor prognosis and promotes tumor growth and lymph node metastasis in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PTPRM methylation induced by FN1 promotes the development of glioblastoma by activating STAT3 signalling., [RefSeq, PubMed]; Receptor protein-tyrosine phosphatase that mediates homotypic cell-cell interactions and plays a role in adipogenic differentiation via modulation of p120 catenin/CTNND1 phosphorylation (PubMed:10753936, PubMed:17761881). Promotes CTNND1 dephosphorylation and prevents its cytoplasmic localization where it inhibits SLC2A4 membrane trafficking. In turn, SLC2A4 is directed to the plasma membrane and performs its glucose transporter function (PubMed:21998202)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 12, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 12, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 7, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 54, "disease_count": 1, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A7MBN1;D3DUH8;J3QL11", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;3.1.3.27", "go_molecular_function": "GO:0042802 identical protein binding;GO:0045296 cadherin binding;GO:0005001 transmembrane receptor protein tyrosine phosphatase activity;GO:0016791 phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0030027 lamellipodium", "go_biological_process": "GO:0007165 signal transduction;GO:0031175 neuron projection development;GO:0001937 negative regulation of endothelial cell proliferation;GO:0016525 negative regulation of angiogenesis;GO:0010596 negative regulation of endothelial cell migration", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P28827-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NH92-1", "uniprot_id": "OR1S1_HUMAN", "mass": 36707.0, "length": 325, "protein_name": "Olfactory receptor 1S1", "gene_name": "OR1S1", "organism": "Human", "refseq_name": "olfactory receptor 1S1", "refseq_ac": "NP_001004458", "gene_names_uniprotkb": "OR1S1", "gene_names_refseq": "OR11-232; OR1S1; OST034", "protein_names_uniprotkb": "Olfactory receptor 1S1; Olfactory receptor OR11-232", "protein_names_refseq": "olfactory receptor 1S1; olfactory receptor OR11-232", "tax_id": 9606, "disease": "", "pathway": " (hsa:219959); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986;33141586", "class_list": "", "function": "Odorant receptor., [UniProtKB]; VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AP004247.2. 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]., [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": 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": "Q6IFG3", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NH92-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGD1-1", "uniprot_id": "OR4N2_HUMAN", "mass": 34721.0, "length": 307, "protein_name": "Olfactory receptor 4N2", "gene_name": "OR4N2", "organism": "Human", "refseq_name": "olfactory receptor 4N2", "refseq_ac": "NP_001004723", "gene_names_uniprotkb": "OR4N2", "gene_names_refseq": "OR14-13; OR14-8; OR4N2", "protein_names_uniprotkb": "Olfactory receptor 4N2; Olfactory receptor OR14-13; Olfactory receptor OR14-8", "protein_names_refseq": "olfactory receptor 4N2; olfactory receptor OR14-13; olfactory receptor OR14-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:390429); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986", "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 seven-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, Mar 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IEY9;Q6IFA2", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGD1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H607-1", "uniprot_id": "OCEL1_HUMAN", "mass": 29404.0, "length": 264, "protein_name": "Occludin/ELL domain-containing protein 1", "gene_name": "OCEL1", "organism": "Human", "refseq_name": "occludin/ELL domain-containing protein 1", "refseq_ac": "NP_078854", "gene_names_uniprotkb": "OCEL1", "gene_names_refseq": "FWP009; OCEL1; S863-9", "protein_names_uniprotkb": "Occludin/ELL domain-containing protein 1", "protein_names_refseq": "occludin/ELL domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79629)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;23481700;25418920;25505266;29557506;32083572;32157095;32387766;32938616;33912179", "class_list": "", "function": "Low OCEL1 expression is associated with poor prognosis in human non-small cell 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": 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:0005923 bicellular tight junction;GO:0016324 apical plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0070830 bicellular tight junction assembly", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9H607-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q06190-1", "uniprot_id": "P2R3A_HUMAN", "mass": 130278.0, "length": 1150, "protein_name": "Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha", "gene_name": "PPP2R3A", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha isoform 3", "refseq_ac": "NP_001177376", "gene_names_uniprotkb": "PPP2R3A; PPP2R3", "gene_names_refseq": "PPP2R3A; PPP2R3; PR130; PR72", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha; PP2A subunit B isoform PR72/PR130; PP2A subunit B isoform R3 isoform; PP2A subunit B isoforms B''-PR72/PR130; PP2A subunit B isoforms B72/B130; Serine/threonine-protein phosphatase 2A 72/130 kDa regulatory subunit B", "protein_names_refseq": "PR130/B''alpha1 subunit; PR72/B''alpha2 subuit; protein phosphatase 2, regulatory subunit B'', alpha; serine/threonine-protein phosphatase 2A 72/130 kDa regulatory subunit B; serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:5523)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10608806;11237011;19531498;23481700;25645385;26992070;28834231;29393594;29557506;29789417;31844290;32157095;32161166;32387766;32392189;32502341;32938616;33068647;33968037;33981976;34262014;35051231;35580925;35945177;36284347;8392071", "class_list": "", "function": "A novel dephosphorylation targeting chimera selectively promoting tau removal in tauopathies. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of Protein Phosphatase 2 Regulatory Subunit B''Alpha Promotes Glycolysis by Regulating Hexokinase 1 in Hepatocellular Carcinoma., [RefSeq, PubMed]; The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment., [UniProtKB]; The PP2A subunit PR130 is a key regulator of cell development and oncogenic transformation. Review article, [RefSeq, PubMed]; This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010]., [RefSeq]; [Functional Hypermethylation of ALDH1L1, PLCL2, and PPP2R3A in Colon 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8KAE7;B4DNU1;B7ZAE3;Q06189;Q9NPQ5", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0005509 calcium ion binding;GO:0019888 protein phosphatase regulator activity;GO:0046872 metal ion binding", "go_cellular_component": "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:0090090 negative regulation of canonical Wnt signaling pathway;GO:0001756 somitogenesis;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q06190-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15612-1", "uniprot_id": "OR1Q1_HUMAN", "mass": 35598.0, "length": 314, "protein_name": "Olfactory receptor 1Q1", "gene_name": "OR1Q1", "organism": "Human", "refseq_name": "olfactory receptor 1Q1", "refseq_ac": "NP_036496", "gene_names_uniprotkb": "OR1Q1; OR1Q2; OR1Q3", "gene_names_refseq": "HSTPCR106; OR1Q1; OR1Q2; OR1Q3; OR9-25; OR9-A; OST226OR9-A; OST226; TPCR106", "protein_names_uniprotkb": "Olfactory receptor 1Q1; OR9-A; OST226; Olfactory receptor 1Q2; Olfactory receptor 1Q3; Olfactory receptor 9-A; Olfactory receptor OR9-25; Olfactory receptor TPCR106", "protein_names_refseq": "olfactory receptor 1Q1; olfactory receptor 1Q2; olfactory receptor 1Q3; olfactory receptor 9-A; olfactory receptor OR9-25; olfactory receptor TPCR106; olfactory receptor, family 1, subfamily Q, member 2; olfactory receptor, family 1, subfamily Q, member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:158131); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;33592498;35051231;9119360", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFN4;Q8NGR7;Q96R82", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q15612-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15619-1", "uniprot_id": "OR1C1_HUMAN", "mass": 35042.0, "length": 314, "protein_name": "Olfactory receptor 1C1", "gene_name": "OR1C1", "organism": "Human", "refseq_name": "olfactory receptor 1C1", "refseq_ac": "NP_036485", "gene_names_uniprotkb": "OR1C1", "gene_names_refseq": "HSTPCR27; OR1-42; OR1.5.10; OR1C1; ORL211; TPCR27", "protein_names_uniprotkb": "Olfactory receptor 1C1; Olfactory receptor OR1-42; Olfactory receptor TPCR27", "protein_names_refseq": "olfactory receptor 1C1; olfactory receptor OR1-42; olfactory receptor TPCR27", "tax_id": 9606, "disease": "", "pathway": " (hsa:26188); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;18669648;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28218747;28656349;29235485;31040214;31154438;31974307;32066986;9119360", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EIR9;Q5VVD2;Q6IF97;Q8NGZ1;Q96R83", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q15619-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBM4-1", "uniprot_id": "OPT_HUMAN", "mass": 37261.0, "length": 332, "protein_name": "Opticin", "gene_name": "OPTC", "organism": "Human", "refseq_name": "opticin precursor", "refseq_ac": "NP_055174", "gene_names_uniprotkb": "OPTC; OPT", "gene_names_refseq": "OPTC; OPT", "protein_names_uniprotkb": "Opticin; Oculoglycan", "protein_names_refseq": "oculoglycan; opticin precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:26254); (R-HSA-1474228)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10229672;10386589;10636917;10706100;10809722;10837509;10892843;10986281;11237011;11375993;11872628;12019215;12727852;12843408;14973287;15234972;15591058;15958533;16133547;16335952;1649600;16631740;16825321;1698775;1707285;17332331;17354228;17608959;18164633;18434311;18658137;19010778;19571574;19657146;19714641;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;22534113;22669977;23035980;23845380;25136834;29557506;32938616;33592498;33811221;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9852107", "class_list": "", "function": "An interplay of microglia and matrix metalloproteinase MMP9 under hypoxic stress regulates the opticin expression in retina. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits angiogenesis in the vitreous humor of the eye, and therefore represses neovascularization (By similarity). Binds collagen fibrils (By similarity). May be involved in collagen fiber organization via regulation of other members of the small leucine-rich repeat proteoglycan superfamily (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Localization in the human eye and genetic screen of opticin, [RefSeq, PubMed]; Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]., [RefSeq]; Opticin binds to collagen and thereby competitively inhibits endothelial cell interactions with collagen via alpha(1)beta(1) and alpha(2)beta(1) integrins, thereby preventing the strong adhesion that is required for proangiogenic signaling via these integrins., [RefSeq, PubMed]; VEGF and hypoxia could decrease opticin protein levels in the human retinal pigment epithelium secretome, and that opticin may be an enzymatic substrate for MMP-2., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5T2G4", "ec_number_list": "", "go_molecular_function": "GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0140150 gel phase of interstitial matrix", "go_biological_process": "GO:0030199 collagen fibril organization;GO:0060348 bone development;GO:0061975 articular cartilage development", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9UBM4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VV17-1", "uniprot_id": "OTUD1_HUMAN", "mass": 51063.0, "length": 481, "protein_name": "OTU domain-containing protein 1", "gene_name": "OTUD1", "organism": "Human", "refseq_name": "OTU domain-containing protein 1", "refseq_ac": "NP_001138845", "gene_names_uniprotkb": "OTUD1; DUBA7; OTDC1", "gene_names_refseq": "DUBA7; OTDC1; OTUD1", "protein_names_uniprotkb": "OTU domain-containing protein 1; 3.4.19.12; DUBA-7", "protein_names_refseq": "DUBA-7; OTU domain containing 1; OTU domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:220213); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5357956)", "pathway_count": 4, "publication_count": 117, "publication_id_list": "10521396;10837247;11098060;11181075;11427719;11577081;12167698;12709429;12721308;12887920;14716293;15024054;15258597;15870263;16260783;16282325;16603398;16682944;16829951;16829952;16953224;17314102;17702576;18178551;19278658;19289468;19416807;19910467;20005846;20185725;20219915;20304918;20385093;21235526;21408173;22179575;22297296;22435550;22848449;23313255;23481700;23746843;23827681;24098568;24246475;24323043;24715725;24726323;24726327;25565632;26344099;26900751;26997266;27307491;27458237;27545878;27552911;27591049;28218747;28506461;28514659;28832583;28920952;28920954;29242379;29437277;29493099;29557506;29632711;29642005;29786170;30146158;30315122;30361438;30410026;30420664;30429286;30779550;30833945;30988283;31154438;31217245;31366726;31511692;31844290;31848261;32157095;32320653;32387766;32502341;32897882;32938616;32983136;33298915;33469115;33912179;33968037;33981976;34087483;34162724;34171305;34363755;34509645;34876703;35051231;35318648;35580925;35941131;36241641;36445135;36640312;37639212;38996928;7531702;7667287;9049422;9065443", "class_list": "", "function": "Deubiquitinating enzyme that specifically hydrolyzes 'Lys-63'-linked polyubiquitin to monoubiquitin (PubMed:23827681). Required for the stability and translation of a subset mRNAs with a high abundance of rare codons by mediating deubiquitination of 40S ribosomal protein RPS10/eS10, thereby antagonizing ZNF598-mediated 40S ubiquitination (PubMed:36445135). The abundance of rare codons in mRNAs can limit the translation rate and can lead to ribosome collisions that trigger activation of ribosome quality control (RQC) pathway by ZNF598 (PubMed:36445135). OTUD1-mediated deubiquitination prevents activation of the RQC and subsequent dissociation of ribosomes and stimulates formation of polysomes and translation (PubMed:36445135)., [UniProtKB, PubMed, PubMed]; Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]., [RefSeq]; The Deubiquitinase OTUD1 Suppresses Secretory Neutrophil Polarization And Ameliorates Immunopathology of Periodontitis., [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 deubiquitinase OTUD1 noncanonically suppresses Akt activation through its N-terminal intrinsically disordered region., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "2.7.11.10;2.7.11.1;2.7.11.25;3.4.19.12;2.3.2.-;2.3.2.27;2.3.2.31", "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "", "go_biological_process": "GO:0006508 proteolysis;GO:0070536 protein K63-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q5VV17-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q68BL8-1", "uniprot_id": "OLM2B_HUMAN", "mass": 83999.0, "length": 750, "protein_name": "Olfactomedin-like protein 2B", "gene_name": "OLFML2B", "organism": "Human", "refseq_name": "olfactomedin-like protein 2B isoform 3 precursor", "refseq_ac": "NP_001334629", "gene_names_uniprotkb": "OLFML2B", "gene_names_refseq": "OLFML2B", "protein_names_uniprotkb": "Olfactomedin-like protein 2B; Photomedin-2", "protein_names_refseq": "olfactomedin-like protein 2B isoform 3 precursor; olfactomedin-like protein 2B; photomedin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:25903)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;23090970;23584533;24190977;24715725;26992070;27543614;27726376;27862975;27869121;28832583;29485866;29557506;29786170;29789417;30429286;30459171;30866865;31154438;31530632;31844290;31848261;32938616;33123756;33592498;33968037;34087483;35051231;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "The high expression of OLFML2B was associate with a short overall survival in gastric cancer patients. Erratum:[BMC Cancer. 2019 Aug 1;19(1):759. doi: 10.1186/s12885-019-5937-1. PMID: 31370831] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an olfactomedin domain-containing protein. Most olfactomedin domain-containing proteins are secreted glycoproteins. [provided by RefSeq, Dec 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": 3, "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": 3, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B7ZA39;Q5VU96;Q6NX46;Q86X11;Q9Y3X6", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0050840 extracellular matrix binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0005576 extracellular region", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q68BL8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IEY1-1", "uniprot_id": "OR4F3_HUMAN", "mass": 35074.0, "length": 312, "protein_name": "Olfactory receptor 4F3/4F16/4F29", "gene_name": "OR4F16; OR4F29; OR4F3", "organism": "Human", "refseq_name": "olfactory receptor 4F3/4F16/4F29", "refseq_ac": "NP_001005221", "gene_names_uniprotkb": "OR4F16; OR4F29; OR4F3", "gene_names_refseq": "OR4F29; OR7-21", "protein_names_uniprotkb": "Olfactory receptor 4F3/4F16/4F29; Olfactory receptor OR1-1", "protein_names_refseq": "olfactory receptor 4F3/4F16/4F29; olfactory receptor OR1-1; olfactory receptor OR7-21; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:26683); (hsa:729759); (hsa:81399); (R-HSA-9752946)", "pathway_count": 4, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231", "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": 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": 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": "B2RPQ6", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6IEY1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IF00-1", "uniprot_id": "OR2T2_HUMAN", "mass": 36228.0, "length": 324, "protein_name": "Olfactory receptor 2T2", "gene_name": "OR2T2", "organism": "Human", "refseq_name": "olfactory receptor 2T2", "refseq_ac": "NP_001004136", "gene_names_uniprotkb": "OR2T2; OR2T2P", "gene_names_refseq": "OR1-43; OR2T2P; OR2T2", "protein_names_uniprotkb": "Olfactory receptor 2T2; Olfactory receptor OR1-43", "protein_names_refseq": "olfactory receptor 2T2; olfactory receptor OR1-43; olfactory receptor, family 2, subfamily T, member 2 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:401992); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "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": 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": 23, "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": "B2RNM1;B9EH01", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6IF00-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IF42-1", "uniprot_id": "OR2A2_HUMAN", "mass": 35820.0, "length": 318, "protein_name": "Olfactory receptor 2A2", "gene_name": "OR2A2", "organism": "Human", "refseq_name": "olfactory receptor 2A2", "refseq_ac": "NP_001005480", "gene_names_uniprotkb": "OR2A2; OR2A17P; OR2A2P", "gene_names_refseq": "OR2A17P; OR2A2P; OR2A2; OR7-11; OST008", "protein_names_uniprotkb": "Olfactory receptor 2A2; Olfactory receptor 2A17; Olfactory receptor OR7-11", "protein_names_refseq": "olfactory receptor 2A17; olfactory receptor 2A2; olfactory receptor OR7-11; olfactory receptor, family 2, subfamily A, member 17 pseudogene; olfactory receptor, family 2, subfamily A, member 2 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:442361); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;32938616;37120575", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, 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]; Prenatal phthalate exposure and cord blood DNA methylation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RN85;Q8NGT6", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6IF42-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PK18-1", "uniprot_id": "OGFD3_HUMAN", "mass": 35646.0, "length": 319, "protein_name": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3", "gene_name": "OGFOD3", "organism": "Human", "refseq_name": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 isoform 1", "refseq_ac": "NP_078924", "gene_names_uniprotkb": "OGFOD3; C17orf101", "gene_names_refseq": "C17orf101; OGFOD3", "protein_names_uniprotkb": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3; 1.14.11.-", "protein_names_refseq": "2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 isoform 1; 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3; PKHD domain-containing transmembrane protein C17orf101", "tax_id": 9606, "disease": "", "pathway": " (hsa:79701)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "10.1101/2023.09.13.557529;11237011;24190977;25576301;25880248;26154972;26375851;26992070;27846572;27893789;28063628;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29741879;29786170;30315122;30429286;31154438;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;34211107;34357683;34509645;34561969;35251023;35318648;35580925;36010968;36241641;37074911;38665916", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "C9JDC8;Q8IZ37;Q9H6J2", "ec_number_list": "", "go_molecular_function": "GO:0005506 iron ion binding;GO:0031418 L-ascorbic acid binding;GO:0051213 dioxygenase activity;GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q6PK18-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZRI0-1", "uniprot_id": "OTOG_HUMAN", "mass": 314794.0, "length": 2925, "protein_name": "Otogelin", "gene_name": "OTOG", "organism": "Human", "refseq_name": "otogelin isoform a precursor", "refseq_ac": "NP_001264198", "gene_names_uniprotkb": "OTOG; OTGN", "gene_names_refseq": "DFNB18B; MLEMP; OTGN; OTOG", "protein_names_uniprotkb": "Otogelin", "protein_names_refseq": "otogelin isoform a precursor", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 18B (Disease Ontology:DOID:0110474)", "pathway": " (hsa:340990); (R-HSA-9662361)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "10821263;11237011;23122587;24378291;26733463;29351928;29800624;31154438;31848261;32162841;32502341;33136635;33592498;34118384;38519595", "class_list": "", "function": "A novel truncation mutation in OTOG gene is associated with prelingual mild hearing loss without vestibular dysfunction., [RefSeq, PubMed]; An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population., [RefSeq, PubMed]; Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease., [RefSeq, PubMed]; Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Patients with OTOG mutation show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good and vestibular hyporeflexia is present., [RefSeq, PubMed]; Prediction and interpretation of rare missense variant in OTOG associated with hearing loss., [RefSeq, PubMed]; Study reports the identification of mutations in OTOG as a cause of moderate nonsyndromic hearing loss, [RefSeq, PubMed]; The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 10, "predicted_n_glycosites": 3, "predicted_o_glycosites": 7, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A8MTX6;A8MUJ0;B7WPC4", "ec_number_list": "", "go_molecular_function": "GO:0005201 extracellular matrix structural constituent;GO:0046556 alpha-L-arabinofuranosidase activity;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0016324 apical plasma membrane;GO:0005576 extracellular region;GO:0005829 cytosol", "go_biological_process": "GO:0007399 nervous system development;GO:0046373 L-arabinose metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q6ZRI0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IXE1-1", "uniprot_id": "OR4N5_HUMAN", "mass": 34696.0, "length": 308, "protein_name": "Olfactory receptor 4N5", "gene_name": "OR4N5", "organism": "Human", "refseq_name": "olfactory receptor 4N5", "refseq_ac": "NP_001004724", "gene_names_uniprotkb": "OR4N5", "gene_names_refseq": "OR4N5", "protein_names_uniprotkb": "Olfactory receptor 4N5; Olfactory receptor OR14-33", "protein_names_refseq": "olfactory receptor 4N5; olfactory receptor OR14-33", "tax_id": 9606, "disease": "", "pathway": " (hsa:390437); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;32983136", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IF11", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8IXE1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N138-1", "uniprot_id": "ORML3_HUMAN", "mass": 17495.0, "length": 153, "protein_name": "ORM1-like protein 3", "gene_name": "ORMDL3", "organism": "Human", "refseq_name": "ORM1-like protein 3", "refseq_ac": "NP_001307730", "gene_names_uniprotkb": "ORMDL3", "gene_names_refseq": "ORMDL3", "protein_names_uniprotkb": "ORM1-like protein 3", "protein_names_refseq": "ORM1-like protein 3", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815); asthma (Disease Ontology:DOID:2841); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:94103); (R-HSA-1660661); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 154, "publication_id_list": "10722674;10751414;10802064;10947957;11237011;11937514;12093374;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17074750;17331073;17355976;17449912;17591919;17611496;17697703;17982138;18155279;18165232;18165233;18184806;18310477;18395550;18446792;18760456;19005213;19133921;19233134;19416851;19506037;19819884;20061445;20110355;20182505;20934997;21620961;22424782;22517924;22898188;22970244;23180825;23481700;23602659;23650620;23754960;23783831;24397554;24569996;24715725;24782409;25576301;25645385;25788259;25892735;26154972;26375851;26992070;27543614;27600516;27862975;28218747;28228285;28575652;28832583;28834231;28860189;29242379;29393594;29437277;29493099;29508533;29557506;29563527;29632711;29769354;29786170;30315122;30429286;30524438;30700557;31154438;31222486;31844290;31848261;31895563;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33537174;33558761;33558762;33592498;33691108;33717175;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35318648;35353673;35409383;35561310;35580925;35972600;36010968;36215666;36241641;36284347;36408842;36581221;36902339;36907437;37224812;37308477;37390971;37499392;37877592;37938771;38417794;39894887;4339164;4817756;8692836;9188692;9312549;9363775", "class_list": "", "function": "A common genetic variation at a locus (rs7216389) controlling expression of the ORMDL3 gene increases patient susceptibility to asthma and is associated with poor control of asthma symptoms in children and young adults. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; A significant association between susceptibility to childhood atopic asthma and the polymorphism regulating ORMDL3 expression in a Japanese population, [RefSeq, PubMed]; Asthma Susceptibility Gene ORMDL3 Promotes Autophagy in Human Bronchial Epithelium., [RefSeq, PubMed]; Evaluation of the association between clinical parameters and ADAM33 and ORMDL3 asthma gene single-nucleotide polymorphisms with the severity of COVID-19., [RefSeq, PubMed]; Histone acetylation regulates ORMDL3 expression-mediated NLRP3 inflammasome overexpression during RSV-allergic exacerbation mice., [RefSeq, PubMed]; ORMDL3 regulates NLRP3 inflammasome activation by maintaining ER-mitochondria contacts in human macrophages and dictates ulcerative colitis patient outcome., [RefSeq, PubMed]; Plays an essential role in the homeostatic regulation of sphingolipid de novo biosynthesis by modulating the activity of the serine palmitoyltransferase (SPT) in response to ceramide levels (PubMed:20182505, PubMed:30700557, PubMed:37308477). When complexed to SPT, the binding of ceramides to its N-terminus stabilizes a conformation that block SPT substrate entry, hence preventing SPT catalytic activity. Through this mechanism, maintains ceramide levels at sufficient concentrations for the production of complex sphingolipids, but which prevents the accumulation of ceramides to levels that trigger apoptosis (PubMed:37308477)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Regulation of the sensitivity of hepatocarcinoma cells by ORMDL3, to sorafenib by autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Results confirm associations between two SNPs within ORMDL3 and asthma in Mexicans and African Americans, and a trend toward association in Puerto Ricans GeneRIF: Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Results indicate that genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B3KS83;Q6UY83", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0017059 serine palmitoyltransferase complex;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:1900060 negative regulation of ceramide biosynthetic process;GO:0030148 sphingolipid biosynthetic process;GO:0006672 ceramide metabolic process;GO:0010508 positive regulation of autophagy;GO:1900182 positive regulation of protein localization to nucleus", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q8N138-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N628-1", "uniprot_id": "OR2C3_HUMAN", "mass": 35376.0, "length": 320, "protein_name": "Olfactory receptor 2C3", "gene_name": "OR2C3", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "OR2C3; OR2C4; OR2C5P", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 2C3; Olfactory receptor 2C4; Olfactory receptor 2C5; Olfactory receptor OR1-30", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:81472); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "14983052;24800820;26992070;27515280;31154438;31974307;32066986;32387766;34509645;35051231;35494241", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5JQS4;Q6IEZ1;Q8NGW7", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N628-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGB4-1", "uniprot_id": "OR4S1_HUMAN", "mass": 34800.0, "length": 309, "protein_name": "Olfactory receptor 4S1", "gene_name": "OR4S1", "organism": "Human", "refseq_name": "olfactory receptor 4S1", "refseq_ac": "NP_001004725", "gene_names_uniprotkb": "OR4S1", "gene_names_refseq": "OR11-100; OR4S1", "protein_names_uniprotkb": "Olfactory receptor 4S1; Olfactory receptor OR11-100", "protein_names_refseq": "olfactory receptor 4S1; olfactory receptor OR11-100", "tax_id": 9606, "disease": "", "pathway": " (hsa:256148); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "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": 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": 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": "Q6IFB4", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NGB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGB6-1", "uniprot_id": "OR4M2_HUMAN", "mass": 35416.0, "length": 313, "protein_name": "Olfactory receptor 4M2", "gene_name": "OR4M2", "organism": "Human", "refseq_name": "olfactory receptor 4M2", "refseq_ac": "NP_001004719", "gene_names_uniprotkb": "OR4M2", "gene_names_refseq": "OR15-3; OR4M2", "protein_names_uniprotkb": "Olfactory receptor 4M2; Olfactory receptor OR15-3", "protein_names_refseq": "olfactory receptor 4M2; olfactory receptor OR15-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:390538); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231;35494241", "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": 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": 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": "B9EH16;Q6IEY2", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGB6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGB9-1", "uniprot_id": "OR4F6_HUMAN", "mass": 35355.0, "length": 312, "protein_name": "Olfactory receptor 4F6", "gene_name": "OR4F6", "organism": "Human", "refseq_name": "olfactory receptor 4F6", "refseq_ac": "NP_001005326", "gene_names_uniprotkb": "OR4F6; OR4F12", "gene_names_refseq": "OR15-15; OR4F12; OR4F6", "protein_names_uniprotkb": "Olfactory receptor 4F6; Olfactory receptor 4F12; Olfactory receptor OR15-15", "protein_names_refseq": "olfactory receptor 4F12; olfactory receptor 4F6; olfactory receptor OR15-15; olfactory receptor, family 4, subfamily F, member 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:390648); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31844290;31974307;32066986;35494241", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EH28;Q6IF95", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGB9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGC6-1", "uniprot_id": "OR4KH_HUMAN", "mass": 34980.0, "length": 312, "protein_name": "Olfactory receptor 4K17", "gene_name": "OR4K17", "organism": "Human", "refseq_name": "olfactory receptor 4K17", "refseq_ac": "NP_001004715", "gene_names_uniprotkb": "OR4K17", "gene_names_refseq": "OR14-29; OR4K17", "protein_names_uniprotkb": "Olfactory receptor 4K17; Olfactory receptor OR14-29", "protein_names_refseq": "olfactory receptor 4K17; olfactory receptor OR14-29", "tax_id": 9606, "disease": "", "pathway": " (hsa:390436); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "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": 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": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6IF12", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NGC6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGD4-1", "uniprot_id": "OR4K1_HUMAN", "mass": 35201.0, "length": 311, "protein_name": "Olfactory receptor 4K1", "gene_name": "OR4K1", "organism": "Human", "refseq_name": "olfactory receptor 4K1", "refseq_ac": "NP_001004063", "gene_names_uniprotkb": "OR4K1", "gene_names_refseq": "OR14-19; OR4K1", "protein_names_uniprotkb": "Olfactory receptor 4K1; Olfactory receptor OR14-19", "protein_names_refseq": "olfactory receptor 4K1; olfactory receptor OR14-19", "tax_id": 9606, "disease": "", "pathway": " (hsa:79544); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24715725;24800820;27515280;31974307;32066986", "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": 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": 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": "B9EKV9;Q8NGD6;Q96R73", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGD4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGK9-1", "uniprot_id": "OR5DG_HUMAN", "mass": 37278.0, "length": 328, "protein_name": "Olfactory receptor 5D16", "gene_name": "OR5D16", "organism": "Human", "refseq_name": "olfactory receptor 5D16", "refseq_ac": "NP_001005496", "gene_names_uniprotkb": "OR5D16", "gene_names_refseq": "OR11-154; OR5D16", "protein_names_uniprotkb": "Olfactory receptor 5D16; Olfactory receptor OR11-154", "protein_names_refseq": "olfactory receptor 5D16; olfactory receptor OR11-154", "tax_id": 9606, "disease": "", "pathway": " (hsa:390144); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "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": 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": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IF65;Q96RB4", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NGK9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGL3-1", "uniprot_id": "OR5DE_HUMAN", "mass": 35823.0, "length": 314, "protein_name": "Olfactory receptor 5D14", "gene_name": "OR5D14", "organism": "Human", "refseq_name": "olfactory receptor 5D14", "refseq_ac": "NP_001004735", "gene_names_uniprotkb": "OR5D14", "gene_names_refseq": "OR11-141; OR11-150; OR5D14", "protein_names_uniprotkb": "Olfactory receptor 5D14; Olfactory receptor OR11-141; Olfactory receptor OR11-150", "protein_names_refseq": "olfactory receptor 5D14; olfactory receptor OR11-141; olfactory receptor OR11-150", "tax_id": 9606, "disease": "", "pathway": " (hsa:219436); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31844290;31974307;32066986", "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": 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": 19, "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": "Q6IF69;Q6IFD4;Q96RB5", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8NGL3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGL9-1", "uniprot_id": "OR4CG_HUMAN", "mass": 34991.0, "length": 310, "protein_name": "Olfactory receptor 4C16", "gene_name": "OR4C16", "organism": "Human", "refseq_name": "olfactory receptor 4C16", "refseq_ac": "NP_001004701", "gene_names_uniprotkb": "OR4C16", "gene_names_refseq": "OR11-135; OR4C16", "protein_names_uniprotkb": "Olfactory receptor 4C16; Olfactory receptor OR11-135", "protein_names_refseq": "olfactory receptor 4C16; olfactory receptor OR11-135", "tax_id": 9606, "disease": "", "pathway": " (hsa:219428); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;29557506;30203366;31974307;32066986", "class_list": "", "function": "OR4C16G>A polymorphism was associated with idiopathic recurrent pregnancy loss in Korean women., [RefSeq, PubMed]; 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]., [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": 26, "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": "Q6IEV8", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGL9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGP4-1", "uniprot_id": "OR5M3_HUMAN", "mass": 35156.0, "length": 307, "protein_name": "Olfactory receptor 5M3", "gene_name": "OR5M3", "organism": "Human", "refseq_name": "olfactory receptor 5M3", "refseq_ac": "NP_001004742", "gene_names_uniprotkb": "OR5M3", "gene_names_refseq": "OR11-191; OR5M3", "protein_names_uniprotkb": "Olfactory receptor 5M3; Olfactory receptor OR11-191", "protein_names_refseq": "olfactory receptor 5M3; olfactory receptor OR11-191", "tax_id": 9606, "disease": "", "pathway": " (hsa:219482); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;32983136", "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": 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": 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": "B2RNM7;Q6IEW4;Q96RC0", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGQ2-1", "uniprot_id": "OR6Q1_HUMAN", "mass": 35736.0, "length": 317, "protein_name": "Olfactory receptor 6Q1", "gene_name": "OR6Q1", "organism": "Human", "refseq_name": "olfactory receptor 6Q1", "refseq_ac": "NP_001005186", "gene_names_uniprotkb": "OR6Q1", "gene_names_refseq": "OR11-226; OR6Q1", "protein_names_uniprotkb": "Olfactory receptor 6Q1; Olfactory receptor OR11-226", "protein_names_refseq": "olfactory receptor 6Q1; olfactory receptor OR11-226", "tax_id": 9606, "disease": "", "pathway": " (hsa:219952); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "12730696;14983052;21248752;24800820;27515280;31974307;32066986", "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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B9EKW1;Q6IFH1;Q96R34", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGQ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGR6-1", "uniprot_id": "OR1B1_HUMAN", "mass": 35162.0, "length": 317, "protein_name": "Olfactory receptor 1B1", "gene_name": "OR1B1", "organism": "Human", "refseq_name": "olfactory receptor 1B1", "refseq_ac": "NP_001004450", "gene_names_uniprotkb": "OR1B1", "gene_names_refseq": "OR1B1; OR9-26; OR9-B", "protein_names_uniprotkb": "Olfactory receptor 1B1; OR9-B; Olfactory receptor 9-B; Olfactory receptor OR9-26", "protein_names_refseq": "olfactory receptor 1B1; olfactory receptor 9-B; olfactory receptor OR9-26", "tax_id": 9606, "disease": "", "pathway": " (hsa:347169); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11237011;12730696;14983052;18328065;24800820;27515280;31974307;32066986", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB, UniProtKB, 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFN3", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGR6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGS0-1", "uniprot_id": "OR1N1_HUMAN", "mass": 34650.0, "length": 311, "protein_name": "Olfactory receptor 1N1", "gene_name": "OR1N1", "organism": "Human", "refseq_name": "olfactory receptor 1N1", "refseq_ac": "NP_036495", "gene_names_uniprotkb": "OR1N1; OR1N3", "gene_names_refseq": "OR1-26; OR1N1; OR1N3; OR9-22", "protein_names_uniprotkb": "Olfactory receptor 1N1; OR1-26; Olfactory receptor 1-26; Olfactory receptor 1N3; Olfactory receptor OR9-22", "protein_names_refseq": "olfactory receptor 1-26; olfactory receptor 1N1; olfactory receptor 1N3; olfactory receptor OR9-22; olfactory receptor, family 1, subfamily N, member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:138883); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;16959974;24800820;27515280;29557506;31974307;32066986;9500546", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A3KFM1;O43870;Q6IF16;Q96R93", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGS0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGS1-1", "uniprot_id": "OR1J4_HUMAN", "mass": 34959.0, "length": 313, "protein_name": "Olfactory receptor 1J4", "gene_name": "OR1J4", "organism": "Human", "refseq_name": "olfactory receptor 1J4", "refseq_ac": "NP_001004452", "gene_names_uniprotkb": "OR1J4", "gene_names_refseq": "HSHTPCRX01; HTPCRX01; OR1J4; OR9-21", "protein_names_uniprotkb": "Olfactory receptor 1J4; HTPCRX01; Olfactory receptor OR9-21", "protein_names_refseq": "olfactory receptor 1J4; olfactory receptor OR9-21", "tax_id": 9606, "disease": "", "pathway": " (hsa:26219); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "1370859;14983052;24800820;27515280;31154438;31974307;32066986;33968037;35051231", "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": 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": 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": "A3KFM0;Q6IEZ3;Q96R89", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory 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": "Q8NGS1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGS3-1", "uniprot_id": "OR1J1_HUMAN", "mass": 35493.0, "length": 322, "protein_name": "Olfactory receptor 1J1", "gene_name": "OR1J1", "organism": "Human", "refseq_name": "olfactory receptor 1J1", "refseq_ac": "NP_001004451", "gene_names_uniprotkb": "OR1J1", "gene_names_refseq": "OR1J1; OR9-18; hg32", "protein_names_uniprotkb": "Olfactory receptor 1J1; Olfactory receptor OR9-18", "protein_names_refseq": "olfactory receptor 1J1; olfactory receptor OR9-18", "tax_id": 9606, "disease": "", "pathway": " (hsa:347168); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;20058876;24800820;27515280;31974307;32066986;34357683;35051231;35580925", "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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A3KFL8;Q6IF10;Q96R88", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory 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": "Q8NGS3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGU4-1", "uniprot_id": "OR2I1_HUMAN", "mass": 34094.0, "length": 315, "protein_name": "Putative olfactory receptor 2I1", "gene_name": "OR2I1", "organism": "Human", "refseq_name": "putative olfactory receptor 2I1", "refseq_ac": "NP_001382987", "gene_names_uniprotkb": "OR2I1; OR2I1P; OR2I2P; OR2I3P; OR2I4P", "gene_names_refseq": "HS6M1-14; OR2I1P; OR2I1; OR2I2; OR2I3P; OR2I4P; OR2I5P; OR2I6; OR2I7P; OR2I8P; OR2I9P; OR6-1; OR6-34", "protein_names_uniprotkb": "Putative olfactory receptor 2I1; Putative olfactory receptor 2I2; Putative olfactory receptor 2I3; Putative olfactory receptor 2I4", "protein_names_refseq": "olfactory receptor OR6-1 pseudogene; olfactory receptor OR6-34 pseudogene; olfactory receptor family 2 subfamily I member 1 pseudogene; olfactory receptor, family 2, subfamily I, member 2; olfactory receptor, family 2, subfamily I, member 3 pseudogene; olfactory receptor, family 2, subfamily I, member 4 pseudogene; olfactory receptor, family 2, subfamily I, member 5 pseudogene; olfactory receptor, family 2, subfamily I, member 6; olfactory receptor, family 2, subfamily I, member 7 pseudogene; olfactory receptor, family 2, subfamily I, member 8 pseudogene; olfactory receptor, family 2, subfamily I, member 9 pseudogene; putative olfactory receptor 2I1; putative olfactory receptor 2I2; putative olfactory receptor 2I3; putative olfactory receptor 2I4; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:442197); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "24800820;27515280;31974307;32066986", "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": 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": "A0A2R8Y4D9", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NGU4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NGY9-1", "uniprot_id": "OR2L8_HUMAN", "mass": 35444.0, "length": 312, "protein_name": "Olfactory receptor 2L8", "gene_name": "OR2L8", "organism": "Human", "refseq_name": "olfactory receptor 2L8", "refseq_ac": "NP_001001963", "gene_names_uniprotkb": "OR2L8", "gene_names_refseq": "OR2L8", "protein_names_uniprotkb": "Olfactory receptor 2L8; Olfactory receptor OR1-46", "protein_names_refseq": "olfactory receptor 2L8; olfactory receptor OR1-46", "tax_id": 9606, "disease": "", "pathway": " (hsa:391190); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B9EIN6;Q6IF03", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NGY9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NH00-1", "uniprot_id": "OR2T4_HUMAN", "mass": 39414.0, "length": 348, "protein_name": "Olfactory receptor 2T4", "gene_name": "OR2T4", "organism": "Human", "refseq_name": "olfactory receptor 2T4", "refseq_ac": "NP_001004696", "gene_names_uniprotkb": "OR2T4", "gene_names_refseq": "OR1-60; OR2T4Q; OR2T4", "protein_names_uniprotkb": "Olfactory receptor 2T4; Olfactory receptor OR1-60", "protein_names_refseq": "olfactory receptor 2T4; olfactory receptor OR1-60", "tax_id": 9606, "disease": "", "pathway": " (hsa:127074); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10460249;11237011;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, 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": 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": 1, "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": "Q6IEZ8", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8NH00-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NH05-1", "uniprot_id": "OR4Q3_HUMAN", "mass": 35491.0, "length": 313, "protein_name": "Olfactory receptor 4Q3", "gene_name": "OR4Q3", "organism": "Human", "refseq_name": "olfactory receptor 4Q3 isoform 1", "refseq_ac": "NP_751944", "gene_names_uniprotkb": "OR4Q3; C14orf13; OR4Q4", "gene_names_refseq": "C14orf13; HSA6; OR14-3; OR4Q3; OR4Q4; c14_5008", "protein_names_uniprotkb": "Olfactory receptor 4Q3; Olfactory receptor 4Q4; Olfactory receptor OR14-3", "protein_names_refseq": "olfactory receptor 4Q3 isoform 1; olfactory receptor 4Q3; olfactory receptor 4Q4; olfactory receptor OR14-3; olfactory receptor, family 4, subfamily Q, member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:441669); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 26, "publication_id_list": "10460249;11237011;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986;32983136;33141586;34509645;35580925", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IEX4", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8NH05-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NH18-1", "uniprot_id": "OR5J2_HUMAN", "mass": 34808.0, "length": 312, "protein_name": "Olfactory receptor 5J2", "gene_name": "OR5J2", "organism": "Human", "refseq_name": "olfactory receptor 5J2", "refseq_ac": "NP_001005492", "gene_names_uniprotkb": "OR5J2", "gene_names_refseq": "OR11-266; OR5J2", "protein_names_uniprotkb": "Olfactory receptor 5J2; Olfactory receptor OR11-266", "protein_names_refseq": "olfactory receptor 5J2; olfactory receptor OR11-266", "tax_id": 9606, "disease": "", "pathway": " (hsa:282775); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;32387766;34509645;36010968", "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": 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": 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": "Q6IEU5", "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:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NH18-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NH49-1", "uniprot_id": "OR4X1_HUMAN", "mass": 34222.0, "length": 305, "protein_name": "Olfactory receptor 4X1", "gene_name": "OR4X1", "organism": "Human", "refseq_name": "olfactory receptor 4X1", "refseq_ac": "NP_001004726", "gene_names_uniprotkb": "OR4X1", "gene_names_refseq": "OR11-104; OR4X1", "protein_names_uniprotkb": "Olfactory receptor 4X1; Olfactory receptor OR11-104", "protein_names_refseq": "olfactory receptor 4X1; olfactory receptor OR11-104", "tax_id": 9606, "disease": "", "pathway": " (hsa:390113); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "14983052;17964544;24800820;27515280;30203366;31844290;31974307;32066986;35494241;36215666", "class_list": "", "function": "OR4X1A>T (rs10838851) is not associated with recurrent pregnancy loss in Korean women., [RefSeq, PubMed]; 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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]., [RefSeq]; Study identified novel nSNP in OR4X1 gene (rs10838851, Tyr273Ter*), which is significantly associated with FEV1.0/FVC value in pulmonary function test in a Japanese population GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6IF74", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NH49-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NH69-1", "uniprot_id": "OR5W2_HUMAN", "mass": 35167.0, "length": 310, "protein_name": "Olfactory receptor 5W2", "gene_name": "OR5W2", "organism": "Human", "refseq_name": "olfactory receptor 5W2", "refseq_ac": "NP_001001960", "gene_names_uniprotkb": "OR5W2; OR5W2P; OR5W3P", "gene_names_refseq": "OR5W2P; OR5W2; OR5W3P", "protein_names_uniprotkb": "Olfactory receptor 5W2; Olfactory receptor 5W3; Olfactory receptor OR11-155", "protein_names_refseq": "olfactory receptor 5W2; olfactory receptor 5W3; olfactory receptor OR11-155; olfactory receptor, family 5, subfamily W, member 3 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:390148); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35580925", "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": 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": 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:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NH69-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NH79-1", "uniprot_id": "OR6X1_HUMAN", "mass": 34727.0, "length": 312, "protein_name": "Olfactory receptor 6X1", "gene_name": "OR6X1", "organism": "Human", "refseq_name": "olfactory receptor 6X1", "refseq_ac": "NP_001005188", "gene_names_uniprotkb": "OR6X1", "gene_names_refseq": "OR11-270; OR6X1", "protein_names_uniprotkb": "Olfactory receptor 6X1; Olfactory receptor OR11-270", "protein_names_refseq": "olfactory receptor 6X1; olfactory receptor OR11-270", "tax_id": 9606, "disease": "", "pathway": " (hsa:390260); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;25880248;27515280;31974307;32066986", "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": 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": "B9EGW9;Q6IFA0", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NH79-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NH93-1", "uniprot_id": "OR1L3_HUMAN", "mass": 36633.0, "length": 324, "protein_name": "Olfactory receptor 1L3", "gene_name": "OR1L3", "organism": "Human", "refseq_name": "olfactory receptor 1L3", "refseq_ac": "NP_001005234", "gene_names_uniprotkb": "OR1L3", "gene_names_refseq": "OR1L3; OR9-28; OR9-D", "protein_names_uniprotkb": "Olfactory receptor 1L3; OR9-D; Olfactory receptor 9-D; Olfactory receptor OR9-28", "protein_names_refseq": "olfactory receptor 1L3; olfactory receptor 9-D; olfactory receptor OR9-28", "tax_id": 9606, "disease": "", "pathway": " (hsa:26735); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RNF4;Q6IFN1", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NH93-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHB7-1", "uniprot_id": "OR5K1_HUMAN", "mass": 35185.0, "length": 308, "protein_name": "Olfactory receptor 5K1", "gene_name": "OR5K1", "organism": "Human", "refseq_name": "olfactory receptor 5K1", "refseq_ac": "NP_001004736", "gene_names_uniprotkb": "OR5K1", "gene_names_refseq": "HSHTPCRX10; HTPCRX10; OR3-8; OR5K1", "protein_names_uniprotkb": "Olfactory receptor 5K1; HTPCRX10; Olfactory receptor OR3-8", "protein_names_refseq": "olfactory receptor 5K1; olfactory receptor OR3-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:26339); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "10460249;1370859;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986;35251023", "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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EGY5;Q6IF46", "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:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8NHB7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHC8-1", "uniprot_id": "OR2T6_HUMAN", "mass": 34765.0, "length": 308, "protein_name": "Olfactory receptor 2T6", "gene_name": "OR2T6", "organism": "Human", "refseq_name": "olfactory receptor 2T6", "refseq_ac": "NP_001005471", "gene_names_uniprotkb": "OR2T6; OR2T6P; OR2T9", "gene_names_refseq": "OR2T6P; OR2T6; OR2T9; OST703", "protein_names_uniprotkb": "Olfactory receptor 2T6; OST703; Olfactory receptor 2T9", "protein_names_refseq": "olfactory receptor 2T6; olfactory receptor 2T9; olfactory receptor, family 2, subfamily T, member 6 pseudogene; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:254879); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "24800820;27515280;31974307;32066986", "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": 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": 23, "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": "A6NE36", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NHC8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZ82-1", "uniprot_id": "OVCA2_HUMAN", "mass": 24418.0, "length": 227, "protein_name": "Esterase OVCA2", "gene_name": "OVCA2", "organism": "Human", "refseq_name": "esterase OVCA2", "refseq_ac": "NP_543012", "gene_names_uniprotkb": "OVCA2", "gene_names_refseq": "OVCA2", "protein_names_uniprotkb": "Esterase OVCA2; 3.1.1.1; OVCA2 serine hydrolase domain-containing protein; Ovarian cancer-associated gene 2 protein", "protein_names_refseq": "OVCA2 serine hydrolase domain-containing protein; candidate tumor suppressor in ovarian cancer 2; esterase OVCA2; ovarian cancer gene-2 protein; ovarian cancer-associated gene 2 protein; ovarian tumor suppressor candidate 2", "tax_id": 9606, "disease": "ovarian cancer (Disease Ontology:DOID:2394)", "pathway": " (hsa:124641)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11979432;25418920;25892735;26154972;26811146;27862975;28832583;28904123;29242379;29393594;29508533;29557506;29769354;29786170;30315122;30429286;30484775;30833945;31154438;31530632;31844290;32157095;32182256;32357974;32502341;32983136;33592498;33691108;33715035;33717175;33912179;33936100;33968037;33981976;34171305;35051231;36010968;36241641;37938771;8616839", "class_list": "", "function": "Exhibits ester hydrolase activity with a strong preference for long-chain alkyl ester substrates and high selectivity against a variety of short, branched, and substituted esters. Is able to hydrolyze ester bonds within a wide range of p-nitrophenyl derivatives (C2-C14) in vitro, with a strong preference toward substrates of >8 carbons., [UniProtKB, PubMed]; Human OVCA2 and its homolog FSH3-induced apoptosis in Saccharomyces cerevisiae., [RefSeq, PubMed]; Is downregulated and degraded during retinoid-induced apoptosis, [RefSeq, PubMed]; OVCA2 was confirmed as a serine hydrolase with a strong preference for long-chain alkyl ester substrates (>10-carbons) and high selectivity against a variety of short, branched, and substituted esters, homologous to FSH1 from S. cerevisiae Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86XN3;Q8IW87;Q9UCX9", "ec_number_list": "3.1.1.1;3.1.1.56;3.1.1.84;3.1.1.13;3.1.1.-", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0106435 carboxylesterase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0032526 response to retinoic acid", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8WZ82-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZ94-1", "uniprot_id": "OR5P3_HUMAN", "mass": 34296.0, "length": 311, "protein_name": "Olfactory receptor 5P3", "gene_name": "OR5P3", "organism": "Human", "refseq_name": "olfactory receptor 5P3", "refseq_ac": "NP_703146", "gene_names_uniprotkb": "OR5P3", "gene_names_refseq": "JCG1; OR5P3", "protein_names_uniprotkb": "Olfactory receptor 5P3; Olfactory receptor OR11-94; Olfactory receptor-like protein JCG1", "protein_names_refseq": "olfactory receptor 5P3; olfactory receptor OR11-94; olfactory receptor-like protein JCG1; putative taste receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:120066); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "10460249;11705801;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor (Potential). May be involved in taste perception., [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": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFE1;Q8NGM2", "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:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8WZ94-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96G91-1", "uniprot_id": "P2Y11_HUMAN", "mass": 40345.0, "length": 374, "protein_name": "P2Y purinoceptor 11", "gene_name": "P2RY11", "organism": "Human", "refseq_name": "P2Y purinoceptor 11", "refseq_ac": "NP_002557", "gene_names_uniprotkb": "P2RY11", "gene_names_refseq": "P2RY11; P2Y11", "protein_names_uniprotkb": "P2Y purinoceptor 11; P2Y11", "protein_names_refseq": "P2Y purinoceptor 11; purinergic receptor P2Y, G-protein coupled, 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:5032); (R-HSA-416476); (R-HSA-417957); (R-HSA-418555)", "pathway_count": 4, "publication_count": 128, "publication_id_list": "10191087;10567430;10727532;10753868;10861009;11004484;11007482;11015615;11156592;11196645;11278528;11546776;11690642;11742120;11753430;12036966;12058044;12106601;12120503;12180353;12386137;12458155;12860470;13549488;14671004;1517224;15199474;15765929;15769620;15951850;16182515;16268477;16268778;16313925;16339447;16687412;16754659;16774927;16923326;16990797;17166850;17168849;18044684;18297070;18434541;18466763;18515384;18577758;18936096;1905813;19105585;19339661;19552634;19876791;19929708;20381629;21036126;2163110;23481700;23890048;2417744;24190977;24393016;24414167;24687066;2491850;2553411;2553705;25892735;26194851;26417854;26758983;27397612;27694321;27920218;28089137;2841328;2871555;29242379;29443750;29557506;29602314;30573663;30833991;3086311;3127824;31279028;31399091;31844290;31848261;31983287;32226383;32357974;32497535;32540603;32618402;32715661;32983136;3304967;33049737;33123756;33298915;33717175;33968037;35580925;36107259;37016172;37881155;38472446;6085243;7937899;8159738;8340388;8514797;8537336;8664309;8666290;8670200;8672451;8720746;9223435;9263355;9305846;9364473;9405388;9417641;9651336;9770463", "class_list": "", "function": "Crosstalk between purinergic receptor P2Y11 and chemokine receptor CXCR7 is regulated by CXCR4 in human macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; Expression profile in human peripheral tissues and brain regions using PCR, [RefSeq, PubMed]; P2Y11/IL-1 receptor crosstalk controls macrophage inflammation: a novel target for anti-inflammatory strategies? Review article, [RefSeq, PubMed]; Receptor for ATP and ADP coupled to G proteins that activate both phosphatidylinositol-calcium and adenylyl cyclase second messenger systems. Not activated by UTP or UDP., [UniProtKB]; Systematic P2Y receptor survey identifies P2Y11 as modulator of immune responses and virus replication in macrophages., [RefSeq, PubMed]; The P2Y11 receptor of human M2 macrophages activates canonical and IL-1 receptor signaling to translate the extracellular danger signal ATP into anti-inflammatory and pro-angiogenic responses. Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R8X9;O43190;Q9BYU4;Q9H170", "ec_number_list": "", "go_molecular_function": "GO:0045031 G protein-coupled ATP receptor activity;GO:0030594 neurotransmitter receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0023041 neuronal signal transduction;GO:0006952 defense response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007190 activation of adenylate cyclase activity;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q96G91-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96PE5-1", "uniprot_id": "OPALI_HUMAN", "mass": 15683.0, "length": 141, "protein_name": "Opalin", "gene_name": "OPALIN", "organism": "Human", "refseq_name": "opalin isoform b", "refseq_ac": "NP_001035191", "gene_names_uniprotkb": "OPALIN; HTMP10; TMEM10", "gene_names_refseq": "HTMP10; OPALIN; TMEM10; TMP10", "protein_names_uniprotkb": "Opalin; Oligodendrocytic myelin paranodal and inner loop protein; Transmembrane protein 10", "protein_names_refseq": "opalin isoform b; transmembrane protein 10; transmembrane protein TMP10", "tax_id": 9606, "disease": "", "pathway": " (hsa:93377)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;11814680;18490449;29557506;30837646", "class_list": "", "function": "Central nervous system-specific myelin protein that increase myelin genes expression during oligodendrocyte differentiation. Promotes oligodendrocyte terminal differentiation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Highly sialylglycosylated Opalin has a role in an intermembranous function of the myelin paranodal loops in the central nervous system, [RefSeq, PubMed]; TMEM10 Promotes Oligodendrocyte Differentiation and is Expressed by Oligodendrocytes in Human Remyelinating Multiple Sclerosis Plaques. 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": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MX69;A8MYG4;B4DK96;B4DKH0;Q5W102", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0044291 cell-cell contact zone", "go_biological_process": "GO:0048713 regulation of oligodendrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q96PE5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96R08-1", "uniprot_id": "OR5BC_HUMAN", "mass": 35182.0, "length": 314, "protein_name": "Olfactory receptor 5B12", "gene_name": "OR5B12", "organism": "Human", "refseq_name": "olfactory receptor 5B12", "refseq_ac": "NP_001004733", "gene_names_uniprotkb": "OR5B12; OR5B12P; OR5B16", "gene_names_refseq": "OR11-241; OR5B12P; OR5B12; OR5B16; OST743", "protein_names_uniprotkb": "Olfactory receptor 5B12; Olfactory receptor 5B16; Olfactory receptor OR11-241", "protein_names_refseq": "olfactory receptor 5B12; olfactory receptor 5B16; olfactory receptor OR11-241; olfactory receptor, family 5, subfamily B, member 12 pseudogene; olfactory receptor, family 5, subfamily B, member 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:390191); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231", "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": 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": 19, "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": "B2RNL2;Q6IEV5", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96R08-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96R09-1", "uniprot_id": "OR5B2_HUMAN", "mass": 34568.0, "length": 309, "protein_name": "Olfactory receptor 5B2", "gene_name": "OR5B2", "organism": "Human", "refseq_name": "olfactory receptor 5B2", "refseq_ac": "NP_001005566", "gene_names_uniprotkb": "OR5B2", "gene_names_refseq": "OR11-240; OR5B2; OST073", "protein_names_uniprotkb": "Olfactory receptor 5B2; OST073; Olfactory receptor OR11-240", "protein_names_refseq": "olfactory receptor 5B2; olfactory receptor OR11-240", "tax_id": 9606, "disease": "", "pathway": " (hsa:390190); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;29557506;30484775;31974307;32066986;35051231", "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": 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": 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": "B2RNJ6;B9EGY7;Q6IEV7;Q8NGF5", "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:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96R09-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96R72-1", "uniprot_id": "OR4K3_HUMAN", "mass": 35408.0, "length": 315, "protein_name": "Olfactory receptor 4K3", "gene_name": "OR4K3", "organism": "Human", "refseq_name": "olfactory receptor 4K3", "refseq_ac": "NP_001335195", "gene_names_uniprotkb": "OR4K3; OR4K3P", "gene_names_refseq": "OR14-10; OR4K3P; OR4K3", "protein_names_uniprotkb": "Olfactory receptor 4K3; Olfactory receptor OR14-14", "protein_names_refseq": "olfactory receptor 4K3; olfactory receptor OR14-14; olfactory receptor, family 4, subfamily K, member 3 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:283617); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "12730696;14983052;24800820;27515280;31974307;32066986", "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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "Q6IFA4", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96R72-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BPV8-1", "uniprot_id": "P2Y13_HUMAN", "mass": 40789.0, "length": 354, "protein_name": "P2Y purinoceptor 13", "gene_name": "P2RY13", "organism": "Human", "refseq_name": "P2Y purinoceptor 13", "refseq_ac": "NP_795713", "gene_names_uniprotkb": "P2RY13; FKSG77; GPR86; GPR94", "gene_names_refseq": "FKSG77; GPCR1; GPR86; GPR94; P2RY13; P2Y13; SP174", "protein_names_uniprotkb": "P2Y purinoceptor 13; G protein-coupled receptor 86; G protein-coupled receptor 94; P2Y13", "protein_names_refseq": "G protein-coupled receptor 86; G-protein coupled receptor 94; P2Y purinoceptor 13; purinergic receptor P2Y, G-protein coupled, 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:53829); (R-HSA-417957); (R-HSA-418594)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10.1101/2023.09.13.557529;10753868;11004484;11007482;11156592;11196645;11273702;11546776;11574155;11961076;12044878;12120503;12386137;12458155;15199474;15951850;16268477;16634148;16774927;16923326;16990797;17166850;18297070;18434541;18466763;18577758;19339661;19552634;23890048;24393016;24414167;2534964;26194851;26758983;2748346;27694321;28089137;2834384;30429286;31848261;3304967;34494914;34860143;35580925;35982893;36112326;38470490;7937899;8015379;8159738;8406495;8537336;8666290;8670200;8720746;9223435;9364473;9405388", "class_list": "", "function": "(p2y13 purinoceptor), [RefSeq, PubMed]; Erythrocytes from patients with ST-elevation myocardial infarction induce cardioprotection through the purinergic P2Y13 receptor and nitric oxide signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Evaluation of tumor microenvironmental immune regulation and prognostic in lung adenocarcinoma from the perspective of purinergic receptor P2Y13., [RefSeq, PubMed]; P2RY13 Exacerbates Intestinal Inflammation by Damaging the Intestinal Mucosal Barrier via Activating IL-6/STAT3 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; P2Y13 receptor deficiency favors adipose tissue lipolysis and worsens insulin resistance and fatty liver disease. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for ADP. Coupled to G(i)-proteins. May play a role in hematopoiesis and the immune system., [UniProtKB, PubMed]; Targeting the P2Y13 Receptor Suppresses IL-33 and HMGB1 Release and Ameliorates Experimental Asthma., [RefSeq, PubMed]; The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is activated by ADP. [provided by RefSeq, Sep 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "B2R827;Q05C50;Q6DKN4;Q8IUT5;Q8TDU7;Q9BY61", "ec_number_list": "", "go_molecular_function": "GO:0045028 G protein-coupled purinergic nucleotide receptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9BPV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BRP0-1", "uniprot_id": "OVOL2_HUMAN", "mass": 30438.0, "length": 275, "protein_name": "Transcription factor Ovo-like 2", "gene_name": "OVOL2", "organism": "Human", "refseq_name": "transcription factor Ovo-like 2 isoform 2", "refseq_ac": "NP_001290390", "gene_names_uniprotkb": "OVOL2; ZNF339", "gene_names_refseq": "CHED1; CHED2; CHED; EUROIMAGE566589; OVOL2; PPCD1; ZNF339", "protein_names_uniprotkb": "Transcription factor Ovo-like 2; Zinc finger protein 339; hOvo2", "protein_names_refseq": "corneal endothelial dystrophy 1 (autosomal dominant); transcription factor Ovo-like 2 isoform 2; transcription factor Ovo-like 2; zinc finger protein 339", "tax_id": 9606, "disease": "posterior polymorphous corneal dystrophy (Disease Ontology:DOID:0060457); posterior polymorphous corneal dystrophy 1 (Disease Ontology:DOID:0110855)", "pathway": " (hsa:58495)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12213202;12654361;19700410;21406692;22737237;26749309;31154438;33537174;35346238;35580925;35896951;37971355", "class_list": "", "function": "An NF-kappaB/OVOL2 circuit regulates glucose import and cell survival in non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Congenital hereditary endothelial dystrophy 1 (CHED1) and CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2 (COL8A2) gene were excluded by linkage and haplotype analyses., [RefSeq, PubMed]; Molecular phylogeny of OVOL1, OVOL2 and OVOL3 genes illustrates a conserved C2H2 zinc finger domain coupled by hypervariable unstructured regions in humans and other species, [RefSeq, PubMed]; Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence., [RefSeq, PubMed]; This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy. [provided by RefSeq, Apr 2016]., [RefSeq]; Transcriptional Repression of Aerobic Glycolysis by OVOL2 in Breast Cancer., [RefSeq, PubMed]; Zinc-finger transcription repressor factor (PubMed:19700410). Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer (By similarity). Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1 (PubMed:19700410). Important for the correct development of primordial germ cells in embryos (By similarity). Plays dual functions in thermogenesis and adipogenesis to maintain energy balance. Essential for brown/beige adipose tissue-mediated thermogenesis, is necessary for the development of brown adipocytes. In white adipose tissues, limits adipogenesis by blocking CEBPA binding to its transcriptional targets and inhibiting its transcription factor activity (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "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": "Q5T8B4;Q9BX22;Q9HA54;Q9Y4M0", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;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:0009913 epidermal cell differentiation;GO:0045617 negative regulation of keratinocyte differentiation;GO:0070351 negative regulation of white fat cell proliferation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BRP0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZF3-1", "uniprot_id": "OSBL6_HUMAN", "mass": 106306.0, "length": 934, "protein_name": "Oxysterol-binding protein-related protein 6", "gene_name": "OSBPL6", "organism": "Human", "refseq_name": "oxysterol-binding protein-related protein 6 isoform c", "refseq_ac": "NP_001188409", "gene_names_uniprotkb": "OSBPL6; ORP6", "gene_names_refseq": "ORP6; OSBPL6", "protein_names_uniprotkb": "Oxysterol-binding protein-related protein 6; ORP-6; OSBP-related protein 6", "protein_names_refseq": "ORP-6; OSBP-related protein 6; oxysterol-binding protein-related protein 6 isoform c; oxysterol-binding protein-related protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:114880); (R-HSA-192105)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11483621;11735225;11802775;14593528;17428193;17525332;18669648;19401682;19413330;23186163;23428468;23481700;23830809;24209621;24742681;25418920;25892735;26715851;26830138;26941018;28832583;29557506;29769354;30028970;30779550;31092671;31154438;31844290;32157095;32161166;32357974;32488085;33141586;33392160;33968037;33981976;35051231;35318648;9852097", "class_list": "", "function": "Family-based GWAS of imputed SNPs revealed novel genomic variants in (or near) PTPRG, OSBPL6, and PDCL3 that influence risk for Alzheimer's Disease. rs7609954 in the gene PTPRG, rs1347297 in the gene OSBPL6, and rs1513625 near PDCL3. In addition, rs72953347 in OSBPL6 and two SNPs in the gene CDKAL1 showed marginally significant association with LOAD (rs10456232, P-value=4.76 x 10-7; rs62400067, P-value=3.54 x 10-7)., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Oxysterol-binding protein-like 6 is a novel regulator of cholesterol trafficking that is part of the miR-33 and miR-27b target gene networks contributing to the maintenance of cholesterol homeostasis., [RefSeq, PubMed]; Regulates cellular transport and efflux of cholesterol (PubMed:26941018). Plays a role in phosphatidylinositol-4-phophate (PI4P) turnover at the neuronal membrane. Localizes at the neurons plasma membrane-endoplasmic reticulum contact sites, and exchanges phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine, PS) from the endoplasmic reticulum for phosphatidylinositol-4-phosphate (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate), PI(4)P) from the plasma membrane (By similarity). Binds via its PH domain PI4P, phosphatidylinositol-4,5-diphosphate, phosphatidylinositol-3,4,5-triphosphate, and phosphatidic acid (By similarity). Weakly binds 25-hydroxycholesterol (PubMed:17428193)., [UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "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": "B4DTW1;C4AMC0;C4AME4;D3DPF6;D3DPF7;Q4ZG68;Q53T68;Q59H61;Q7Z4Q1;Q86V84;Q8N9T0;Q96SR1", "ec_number_list": "", "go_molecular_function": "GO:0015485 cholesterol binding;GO:0120015 sterol transfer activity;GO:0160270 phosphatidylserine-phosphatidylinositol-4-phosphate exchange activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031965 nuclear membrane;GO:0097038 perinuclear endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0032374 regulation of cholesterol transport;GO:0120010 intermembrane phospholipid transfer", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9BZF3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H488-1", "uniprot_id": "OFUT1_HUMAN", "mass": 43956.0, "length": 388, "protein_name": "GDP-fucose protein O-fucosyltransferase 1", "gene_name": "POFUT1", "organism": "Human", "refseq_name": "GDP-fucose protein O-fucosyltransferase 1 isoform 1 precursor", "refseq_ac": "NP_056167", "gene_names_uniprotkb": "POFUT1; FUT12; KIAA0180", "gene_names_refseq": "DDD2; FUT12; O-FUT; O-Fuc-T; O-FucT-1; OFUCT1; POFUT1", "protein_names_uniprotkb": "GDP-fucose protein O-fucosyltransferase 1; 2.4.1.221; O-FucT-1; Peptide-O-fucosyltransferase 1", "protein_names_refseq": "GDP-fucose protein O-fucosyltransferase 1 isoform 1 precursor; GDP-fucose protein O-fucosyltransferase 1; o-fucosyltransferase protein; peptide-O-fucosyltransferase 1", "tax_id": 9606, "disease": "Dowling-Degos disease (Disease Ontology:DOID:0060256)", "pathway": " (hsa:23509); (R-HSA-1912399)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11524432;12486116;15692013;18243100;18347015;19159218;21464368;21490058;23684010;25576301;25645385;26154972;26768311;26992070;27600516;27846572;27920218;28228285;28334865;28514659;28834231;28904123;29242379;29314611;29393594;29557506;29741879;30429286;30524438;31217245;31844290;32157095;32357974;32387766;32938616;32983136;33592498;33912179;33968037;34019948;34171305;34509645;34725712;35051231;36010968;36215666;36284347;36624091;37074911;37432515;37641160;37938771;38500386;38665916;38976017;40914422;8358148", "class_list": "glycogene;glycosyltransferase", "function": "Analysis of endogenous NOTCH1 from POFUT1 S162L patient fibroblasts reveals the importance of the O-fucose modification on EGF12 in human development., [RefSeq, PubMed]; Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs)., [UniProtKB, PubMed, PubMed, PubMed]; Circular RNA circPOFUT1 enhances malignant phenotypes and autophagy-associated chemoresistance via sequestrating miR-488-3p to activate the PLAG1-ATG12 axis in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of POFUT1 promotes malignant phenotype and mediates perineural invasion in head and neck squamous cell carcinoma., [RefSeq, PubMed]; POFUT1 and PLAGL2 are characteristic markers of mucinous colorectal cancer associated with MUC2 expression., [RefSeq, PubMed]; Preliminary study on the mechanism of POFUT1 in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. 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": 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": 5, "reported_glycation": 0, "reported_snv": 454, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K4R8;E1P5M4;Q14685;Q5W185;Q9BW76", "ec_number_list": "2.4.1.221;2.4.1.-", "go_molecular_function": "GO:0046922 peptide-O-fucosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0036066 protein O-linked glycosylation via fucose;GO:0006004 fucose metabolic process;GO:0008593 regulation of Notch signaling pathway", "synthesized_glycan_count": 158, "hit_score": 8.0, "record_id": "Q9H488-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRC9-1", "uniprot_id": "OTOR_HUMAN", "mass": 14332.0, "length": 128, "protein_name": "Otoraplin", "gene_name": "OTOR", "organism": "Human", "refseq_name": "otoraplin precursor", "refseq_ac": "NP_064542", "gene_names_uniprotkb": "OTOR; FDP; MIAL; PRO9873", "gene_names_refseq": "FDP; MIAL1; OTOR", "protein_names_uniprotkb": "Otoraplin; Fibrocyte-derived protein; Melanoma inhibitory activity-like protein", "protein_names_refseq": "fibrocyte-derived protein; melanoma inhibitory activity-like protein; otoraplin precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56914)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10873378;10998416;11161796;12975309;15340161;24715725;30897334", "class_list": "", "function": "Results indicate that OTOR plays a crucial role in the progression of and prognosis for breast carcinoma (BC), which could help to identify future therapeutic targets for treating BC patients, [RefSeq, PubMed]; This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "D3DW22;Q3MIU6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007605 sensory perception of sound;GO:0001502 cartilage condensation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9NRC9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRN5-1", "uniprot_id": "OLFL3_HUMAN", "mass": 46010.0, "length": 406, "protein_name": "Olfactomedin-like protein 3", "gene_name": "OLFML3", "organism": "Human", "refseq_name": "olfactomedin-like protein 3 isoform 2", "refseq_ac": "NP_001273281", "gene_names_uniprotkb": "OLFML3; PRO1294; PSEC0035; PSEC0173; PSEC0244", "gene_names_refseq": "HNOEL-iso; OLF44; OLFML3", "protein_names_uniprotkb": "Olfactomedin-like protein 3; HNOEL-iso; hOLF44", "protein_names_refseq": "olfactomedin, 44-kd; olfactomedin-like protein 3 isoform 2; olfactomedin-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:56944)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1074/mcp.M114.046862;12975309;15280020;16303743;23398349;24190977;25576301;25813380;29741879;31919052;33592498;34686207;34884869;35251023;37074911", "class_list": "", "function": "Circadian Regulator CLOCK Recruits Immune-Suppressive Microglia into the GBM Tumor Microenvironment., [RefSeq, PubMed]; May have matrix-related function involved in human placental and embryonic development, or play a similar role in other physiological processes, [RefSeq, PubMed]; Microglia-Derived Olfactomedin-like 3 Promotes Pro-Tumorigenic Microglial Function and Malignant Features of Glioma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Secreted scaffold protein that plays an essential role in dorsoventral patterning during early development. Stabilizes axial formation by restricting chordin (CHRD) activity on the dorsal side. Acts by facilitating the association between the tolloid proteases and their substrate chordin (CHRD), leading to enhance chordin (CHRD) degradation (By similarity). May have matrix-related function involved in placental and embryonic development, or play a similar role in other physiological processes., [UniProtKB, PubMed]; Surfaceome CRISPR screen identifies OLFML3 as a rhinovirus-inducible IFN antagonist. Erratum:[Genome Biol. 2021 Nov 15;22(1):314. doi: 10.1186/s13059-021-02534-5. PMID: 34782001] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the olfactomedin-like gene family which also includes genes encoding noelin, tiarin, myocilin, amassin, optimedin, photomedin, and latrophilin. The encoded protein is a secreted extracellular matrix glycoprotein with a C-terminal olfactomedin domain that facilitates protein-protein interactions, cell adhesion, and intercellular interactions. It serves as both a scaffold protein that recruits bone morphogenetic protein 1 to its substrate chordin, and as a vascular tissue remodeler with pro-angiogenic properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]., [RefSeq]; This paper reports OLFML3 expression in human and baboon eye. The full coding DNA sequence has 1221 bp, from which an open reading frame of 406 amino acid was obtained., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 105, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q53FR1;Q53HV9;Q5SQL6;Q69AX9;Q8NBJ2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:1903561 extracellular vesicle", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q9NRN5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NX31-1", "uniprot_id": "OSER1_HUMAN", "mass": 31779.0, "length": 292, "protein_name": "Oxidative stress-responsive serine-rich protein 1", "gene_name": "OSER1", "organism": "Human", "refseq_name": "oxidative stress-responsive serine-rich protein 1", "refseq_ac": "NP_057554", "gene_names_uniprotkb": "OSER1; BM-038; C20orf111; HSPC168; HSPC207", "gene_names_refseq": "C20orf111; HSPC207; OSER1; Osr1; Perit1; dJ1183I21.1", "protein_names_uniprotkb": "Oxidative stress-responsive serine-rich protein 1; Oxidative stress-responsive protein 1; Peroxide-inducible transcript 1 protein", "protein_names_refseq": "oxidative stress-responsive 1; oxidative stress-responsive protein 1; oxidative stress-responsive serine-rich protein 1; peroxide-inducible transcript 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51526)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "19651622;22645359;23186163;25576301;25880248;26154972;26992070;27397612;27920218;28228285;28832583;28834231;28904123;29242379;29557506;30429286;31154438;31844290;31848261;31998317;32157095;32161166;32350084;32488085;32983136;33592498;33691108;34087483;34171305;34561969;35051231;35580925;36284347;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "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": "B2RCK4;O95912;Q9NZ84;Q9P0R8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0070301 cellular response to hydrogen peroxide", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9NX31-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZP0-1", "uniprot_id": "OR6C3_HUMAN", "mass": 35531.0, "length": 311, "protein_name": "Olfactory receptor 6C3", "gene_name": "OR6C3", "organism": "Human", "refseq_name": "olfactory receptor 6C3 isoform 1", "refseq_ac": "NP_473445", "gene_names_uniprotkb": "OR6C3", "gene_names_refseq": "OR6C3; OST709", "protein_names_uniprotkb": "Olfactory receptor 6C3; HSA8", "protein_names_refseq": "HSA8; olfactory receptor 6C3 isoform 1; olfactory receptor 6C3", "tax_id": 9606, "disease": "", "pathway": " (hsa:254786); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "10706615;24800820;25418920;27515280;29769354;31974307;32066986;35051231", "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": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9NZP0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NZT2-1", "uniprot_id": "OGFR_HUMAN", "mass": 73325.0, "length": 677, "protein_name": "Opioid growth factor receptor", "gene_name": "OGFR", "organism": "Human", "refseq_name": "opioid growth factor receptor", "refseq_ac": "NP_031372", "gene_names_uniprotkb": "OGFR", "gene_names_refseq": "OGFR", "protein_names_uniprotkb": "Opioid growth factor receptor; OGFr; Protein 7-60; Zeta-type opioid receptor", "protein_names_refseq": "opioid growth factor receptor; protein 7-60; zeta-type opioid receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:11054)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10677613;11214971;11237011;11890982;16964243;17081983;17287340;17525332;18077418;18212344;18318008;18491316;18510355;18669648;18707149;18767875;19369195;19413330;19415658;19651622;19664994;19690332;20058876;20068231;20166139;21406692;23186163;23301498;23481700;23856908;24275569;24715725;25576301;25853862;26992070;27167686;28510447;28904123;29242379;29371260;29437277;29493099;29557506;30315122;30410026;31154438;31530632;31844290;31848261;32157095;32938616;32983136;33537174;33592498;33677409;33912179;33968037;33981976;34087483;34185709;34357683;35051231;35580925;36284347;40914422", "class_list": "", "function": "Beta-endorphin and opioid growth factor as biomarkers of physical ability in multiple sclerosis., [RefSeq, PubMed]; Morphine interacts with OGFR and may suppress lung cancer proliferation and progression., [RefSeq, PubMed]; Receptor for opioid growth factor (OGF), also known as Met-enkephalin. Seems to be involved in growth regulation., [UniProtKB]; The OGF-OGFr axis may be a feasible target for treatment of cancer of the ovary (i) in a prophylactic fashion, (ii) following cytoreduction or (iii) in conjunction with standard chemotherapy for additive effectiveness, [RefSeq, PubMed]; The blockade of OGF signaling by MNTX releases cells from their arrest and boosts the effect of Doc Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a receptor for opioid growth factor (OGF), also known as [Met(5)]-enkephalin. OGF is a negative regulator of cell proliferation and tissue organization in a variety of processes. The encoded unbound receptor for OGF has been localized to the outer nuclear envelope, where it binds OGF and is translocated into the nucleus. The coding sequence of this gene contains a polymorphic region of 60 nt tandem imperfect repeat units. Several transcripts containing between zero and eight repeat units have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O96029;Q4VXW5;Q96CM2;Q9BQW1;Q9H4H0;Q9H7J5;Q9NZT3;Q9NZT4", "ec_number_list": "", "go_molecular_function": "GO:0140625 opioid growth factor receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0001558 regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9NZT2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UBL9-1", "uniprot_id": "P2RX2_HUMAN", "mass": 51754.0, "length": 471, "protein_name": "P2X purinoceptor 2", "gene_name": "P2RX2", "organism": "Human", "refseq_name": "P2X purinoceptor 2 isoform J", "refseq_ac": "NP_001269093", "gene_names_uniprotkb": "P2RX2; P2X2", "gene_names_refseq": "DFNA41; P2RX2; P2X2", "protein_names_uniprotkb": "P2X purinoceptor 2; ATP receptor; P2X2; Purinergic receptor", "protein_names_refseq": "ATP receptor; P2X Receptor, subunit 2; P2X purinoceptor 2 isoform J; P2X purinoceptor 2; purinergic receptor P2X, ligand gated ion channel, 2", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 41 (Disease Ontology:DOID:0110567)", "pathway": " (hsa:22953); (R-HSA-139853); (R-HSA-418346)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "10228183;10570044;11805119;12907444;16362076;21882811;23345450;24211385;2457808;25707358;25892735;29242379;29557506;31636190;33791800;34343896;34425661;35051231;35285517;36246559;37217939;8646775;9494101;9565569;9930701", "class_list": "", "function": "ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and calcium (PubMed:10570044, PubMed:31636190). Activation by extracellular ATP induces a variety of cellular responses, such as excitatory postsynaptic responses in sensory neurons, neuromuscular junctions (NMJ) formation, hearing, perception of taste and peristalsis (By similarity). In the inner ear, regulates sound transduction and auditory neurotransmission, outer hair cell electromotility, inner ear gap junctions, and K(+) recycling (PubMed:23345450). Mediates synaptic transmission between neurons and from neurons to smooth muscle (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Generation and characterization of a P2rx2 V60L mouse model for DFNA41., [RefSeq, PubMed]; Identification of Calcium Channel-Related Gene P2RX2 for Prognosis and Immune Infiltration in Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss Publication Status: Online-Only, [RefSeq, PubMed]; Increased P2x2 receptors induced by amyloid-beta peptide participates in the neurotoxicity in alzheimer's disease., [RefSeq, PubMed]; P2X2 receptor subunit interfaces are missense variant hotspots, where mutations tend to increase apparent ATP affinity., [RefSeq, PubMed]; The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 25, "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": "A6NGB4;A6NH93;A6NHC2;A6NHU3;A6NIG9;Q6V9R6;Q9NR37;Q9NR38;Q9UHD5;Q9UHD6;Q9UHD7;Q9Y637;Q9Y638", "ec_number_list": "2.7.11.1;1.8.-.-", "go_molecular_function": "GO:0005524 ATP binding;GO:0015276 ligand-gated monoatomic ion channel activity;GO:0042802 identical protein binding;GO:0001614 purinergic nucleotide receptor activity;GO:0004931 extracellularly ATP-gated monoatomic cation channel activity", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0043235 receptor complex;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0002931 response to ischemia;GO:0050850 positive regulation of calcium-mediated signaling;GO:0007605 sensory perception of sound;GO:0070588 calcium ion transmembrane transport;GO:0010524 positive regulation of calcium ion transport into cytosol", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9UBL9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y236-1", "uniprot_id": "OSGI2_HUMAN", "mass": 56672.0, "length": 505, "protein_name": "Oxidative stress-induced growth inhibitor 2", "gene_name": "OSGIN2", "organism": "Human", "refseq_name": "oxidative stress-induced growth inhibitor 2 isoform 1", "refseq_ac": "NP_001119583", "gene_names_uniprotkb": "OSGIN2; C8orf1", "gene_names_refseq": "C8orf1; OSGIN2; hT41", "protein_names_uniprotkb": "Oxidative stress-induced growth inhibitor 2; hT41", "protein_names_refseq": "oxidative stress-induced growth inhibitor 2 isoform 1; oxidative stress-induced growth inhibitor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:734)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;24715725;25576301;25645385;25802875;26154972;26375851;26992070;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29437277;29557506;29769354;29786170;30315122;30429286;30779550;30833945;31154438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33968037;33981976;34171305;34185709;34932366;35051231;35580925;36010968;36241641;36284347;37938771;9933573", "class_list": "", "function": "Monooxygenase catalytic activity (By similarity). May be involved in meiosis or the maturation of germ 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0008083 growth factor activity;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0030496 midbody", "go_biological_process": "GO:0030308 negative regulation of cell growth;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9Y236-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z3E1-1", "uniprot_id": "PARPT_HUMAN", "mass": 76227.0, "length": 657, "protein_name": "Protein mono-ADP-ribosyltransferase TIPARP", "gene_name": "TIPARP", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase TIPARP", "refseq_ac": "NP_001171646", "gene_names_uniprotkb": "TIPARP; PARP7", "gene_names_refseq": "ARTD14; PARP7; TIPARP; pART14", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase TIPARP; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 14; ARTD14; PARP-7; Poly [ADP-ribose] polymerase 7; TCDD-inducible poly [ADP-ribose] polymerase", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 14; poly [ADP-ribose] polymerase 7; protein mono-ADP-ribosyltransferase TIPARP", "tax_id": 9606, "disease": "", "pathway": " (hsa:25976)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11237011;12851707;20106667;20112406;23275542;23481700;24715725;25043379;25576301;25645385;25892735;26154972;26992070;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29769354;29786170;30315122;30373764;30410026;30429286;30779550;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34375612;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36536086;37077937;37340703;37768084;37938771;38011562", "class_list": "", "function": "ADP-ribosyltransferase that mediates mono-ADP-ribosylation of glutamate, aspartate and cysteine residues on target proteins (PubMed:23275542, PubMed:25043379, PubMed:30373764). Acts as a negative regulator of AHR by mediating mono-ADP-ribosylation of AHR, leading to inhibit transcription activator activity of AHR (PubMed:23275542, PubMed:30373764)., [UniProtKB, PubMed, PubMed, PubMed]; Induction of PARP7 Creates a Vulnerability for Growth Inhibition by RBN2397 in Prostate Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; PARP7 negatively regulates the type I interferon response in cancer cells and its inhibition triggers antitumor immunity., [RefSeq, PubMed]; PARP7-mediated ADP-ribosylation of FRA1 promotes cancer cell growth by repressing IRF1- and IRF3-dependent apoptosis., [RefSeq, PubMed]; TIPARP (DKFZp434J214) gene is amplified in HNSCC. TIPARP, FLJ22693 and ZAP proteins with TPH, WW and PARP-like domains constitute the TIPARP family., [RefSeq, PubMed]; TIPARP is involved in the regulation of intraocular pressure. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]; Transcriptome screening identifies TIPARP as an antiviral host factor against the Getah virus., [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": 24, "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": "D3DNK6;Q68CY9;Q86VP4;Q9Y4P7", "ec_number_list": "2.4.2.-;2.4.2.30;2.3.1.-;2.3.1.286", "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0008270 zinc ion binding;GO:0000987 cis-regulatory region sequence-specific DNA binding;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0070213 protein auto-ADP-ribosylation;GO:0010629 negative regulation of gene expression;GO:0045732 positive regulation of protein catabolic process;GO:1904612 response to 2,3,7,8-tetrachlorodibenzodioxine", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q7Z3E1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C8F1-1", "uniprot_id": "PATE4_HUMAN", "mass": 11407.0, "length": 98, "protein_name": "Prostate and testis expressed protein 4", "gene_name": "PATE4", "organism": "Human", "refseq_name": "prostate and testis expressed protein 4 precursor", "refseq_ac": "NP_001138346", "gene_names_uniprotkb": "PATE4", "gene_names_refseq": "PATE-B; PATE4", "protein_names_uniprotkb": "Prostate and testis expressed protein 4; PATE-B; PATE-like protein B", "protein_names_refseq": "PATE-like protein B; prostate and testis expressed protein 4 precursor; prostate and testis expressed protein 4; prostate and testis expression B", "tax_id": 9606, "disease": "", "pathway": " (hsa:399968)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;18387948;22402205;23481700", "class_list": "", "function": "Analysis of PATE, expressed primarily in prostate and less in testis, and additional PATE-like genes PATE-M, PATE-DJ, and PATE-B, [RefSeq, PubMed]; May modulate the function of nicotinic acetylcholine receptors. May enhance sperm motility., [UniProtKB, PubMed]; PATE proteins are involved in sperm-oolemma fusion and penetration but not sperm-zona binding., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0030548 acetylcholine receptor regulator activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0099601 regulation of neurotransmitter receptor activity", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0C8F1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C9JE40-1", "uniprot_id": "PATL2_HUMAN", "mass": 61464.0, "length": 543, "protein_name": "Protein PAT1 homolog 2", "gene_name": "PATL2", "organism": "Human", "refseq_name": "protein PAT1 homolog 2 isoform 1", "refseq_ac": "NP_001138584", "gene_names_uniprotkb": "PATL2", "gene_names_refseq": "OOMD4; OZEMA4; PATL2; Pat1a; hPat1a", "protein_names_uniprotkb": "Protein PAT1 homolog 2; PAT1-like protein 2; Pat1a; Protein PAT1 homolog a; hPat1a", "protein_names_refseq": "PAT1-like protein 2; protein PAT1 homolog 2 isoform 1; protein PAT1 homolog 2; protein PAT1 homolog a; protein associated with topoisomerase II homolog 2", "tax_id": 9606, "disease": "ovarian disease (Disease Ontology:DOID:1100); oocyte maturation defect 4 (MONDO:MONDO:0021575)", "pathway": " (hsa:197135)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;20584987;25892735;28904123;28965844;28965849;29661911;29769354;31217245;31844290;32357974;33592498;34008465;34211107;35051231;35091966;38087182;38536595;38954294", "class_list": "", "function": "Data indicate PAT1 homolog 2 protein (PATL2) mutation as a major cause of oocyte meiotic deficiency., [RefSeq, PubMed]; Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure., [RefSeq, PubMed]; Mutation in PATL2 gene is associated with Female Infertility., [RefSeq, PubMed]; Nonsense mutation in PATL2 gene is associated with Female Infertility., [RefSeq, PubMed]; Novel PATL2 variants cause female infertility with oocyte maturation defect., [RefSeq, PubMed]; Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest., [RefSeq, PubMed]; PATL2 regulated the apoptosis of ovarian granulosa cells in patients with PCOS., [RefSeq, PubMed]; RNA-binding protein that acts as a translational repressor., [UniProtKB, UniProtKB]; Reduced PATL2 Impairs the Proliferation of Ovarian Granulosa Cells by Decreasing ADM2 Expression in Patients with PCOS., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000932 P-body", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:0017148 negative regulation of translation;GO:0033962 P-body assembly", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "C9JE40-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60330-1", "uniprot_id": "PCDGC_HUMAN", "mass": 100955.0, "length": 932, "protein_name": "Protocadherin gamma-A12", "gene_name": "PCDHGA12", "organism": "Human", "refseq_name": "protocadherin gamma-A12 isoform 1 precursor", "refseq_ac": "NP_003726", "gene_names_uniprotkb": "PCDHGA12; CDH21; FIB3; KIAA0588; PRO707", "gene_names_refseq": "CDH21; FIB3; PCDH-GAMMA-A12; PCDHGA12", "protein_names_uniprotkb": "Protocadherin gamma-A12; Cadherin-21; Fibroblast cadherin-3; PCDH-gamma-A12", "protein_names_refseq": "cadherin 21; fibroblast cadherin FIB3; fibroblast cadherin-3; protocadherin gamma-A12 isoform 1 precursor; protocadherin gamma-A12", "tax_id": 9606, "disease": "", "pathway": " (hsa:26025)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10380929;12975309;23481700;24715725;25645385;29242379;30315122;30459171;31844290;32350084;32357974;32387766;32488085;34357683;35051231;35154160;9199196", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_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": 51, "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": "O15100;Q6UW70;Q9Y5D7", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "O60330-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75381-1", "uniprot_id": "PEX14_HUMAN", "mass": 41237.0, "length": 377, "protein_name": "Peroxisomal membrane protein PEX14", "gene_name": "PEX14", "organism": "Human", "refseq_name": "peroxisomal membrane protein PEX14", "refseq_ac": "NP_004556", "gene_names_uniprotkb": "PEX14", "gene_names_refseq": "NAPP2; PBD13A; PEX14; Pex14p; dJ734G22.2", "protein_names_uniprotkb": "Peroxisomal membrane protein PEX14; PTS1 receptor-docking protein; Peroxin-14; Peroxisomal membrane anchor protein PEX14", "protein_names_refseq": "NF-E2 associated polypeptide 2; PTS1 receptor docking protein; peroxin-14; peroxisomal membrane anchor protein PEX14; peroxisomal membrane anchor protein Pex14p; peroxisomal membrane protein PEX14", "tax_id": 9606, "disease": "peroxisome biogenesis disorder 13A (Disease Ontology:DOID:0080487)", "pathway": " (hsa:5195); (R-HSA-8866654); (R-HSA-9033241); (R-HSA-9603798)", "pathway_count": 4, "publication_count": 180, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10022913;10212238;10430017;10562279;10673331;10704444;11101887;11237011;11390669;11402059;11438541;11453642;11546814;11590176;11740563;11781871;11883941;11931631;12456682;12488033;12559034;12578380;12717447;12751901;12885776;12924628;14709540;15007061;15146459;15215855;15215856;15545321;15713480;15781447;15858711;16280322;16307923;16791427;16854980;16868077;16895967;16980692;17007944;17069900;17081983;17108083;17130289;17726030;18174172;18316726;18359941;18712838;18719106;18782765;19197237;19208625;19410543;19584060;19608861;19632994;19723507;20068231;20178365;20531392;20554521;21102411;21203937;21329877;21396873;21525035;21554508;21976670;21980954;22002062;22021426;22057399;22371489;22624858;22747494;23186163;23460677;23628762;23963456;24235149;24616531;24662292;24714562;24807418;24865970;24979766;25016021;25030448;25062251;25170678;25517356;25538232;25576301;25645385;25813380;25854684;25892735;25936802;26086376;26138649;26154972;26210183;26216882;26220973;26344566;26350214;26711259;26768311;26777132;26992070;27452731;27569044;27597759;27798111;27846572;27893789;28218747;28228285;28281558;28325759;28514659;28521612;28611990;28765278;28787099;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29557506;29769354;29786170;30315122;30573663;31217245;31844290;32157095;32161166;32350084;32488085;32831175;32854114;32938616;32983136;33298915;33592498;33968037;34087483;34357683;34932366;35051231;35580925;37493040;38762172;39894887;40914422;7719337;7790377;8625414;8824437;8858165;8991089;9090381;9090382;9090383;9418908;9539740;9653144;9668159;9837948", "class_list": "", "function": "Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene., [RefSeq, PubMed]; Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (PubMed:24235149, PubMed:28765278, PubMed:9653144). The PEX13-PEX14 docking complex forms a large import pore which can be opened to a diameter of about 9 nm (By similarity). Mechanistically, PEX5 receptor along with cargo proteins associates with the PEX14 subunit of the PEX13-PEX14 docking complex in the cytosol, leading to the insertion of the receptor into the organelle membrane with the concomitant translocation of the cargo into the peroxisome matrix (PubMed:24235149, PubMed:28765278). Plays a key role for peroxisome movement through a direct interaction with tubulin (PubMed:21525035)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Overexpression of PEX14 results in mistargeting to mitochondria, accompanied by organelle fragmentation and clustering in human embryonic kidney cells., [RefSeq, PubMed]; This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [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": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 8, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R7N1;B3KML6;B7Z1N2;Q8WX51", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008017 microtubule binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:1990429 peroxisomal importomer complex;GO:0005634 nucleus;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "GO:0016561 protein import into peroxisome matrix, translocation;GO:0036250 peroxisome transport along microtubule;GO:0044721 protein import into peroxisome matrix, substrate release;GO:0007031 peroxisome organization;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "O75381-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P27815-1", "uniprot_id": "PDE4A_HUMAN", "mass": 98143.0, "length": 886, "protein_name": "3',5'-cyclic-AMP phosphodiesterase 4A", "gene_name": "PDE4A", "organism": "Human", "refseq_name": "3',5'-cyclic-AMP phosphodiesterase 4A isoform 1", "refseq_ac": "NP_001104777", "gene_names_uniprotkb": "PDE4A; DPDE2", "gene_names_refseq": "DPDE2; PDE46; PDE4A; PDE4", "protein_names_uniprotkb": "3',5'-cyclic-AMP phosphodiesterase 4A; 3.1.4.53; DPDE2; PDE46; cAMP-specific phosphodiesterase 4A", "protein_names_refseq": "3',5'-cyclic-AMP phosphodiesterase 4A isoform 1; 3',5'-cyclic-AMP phosphodiesterase 4A; cAMP-specific 3',5'-cyclic phosphodiesterase 4A; cAMP-specific phosphodiesterase 4A; phosphodiesterase 4A, cAMP-specific (dunce; phosphodiesterase E2 dunce homolog, Drosophila; phosphodiesterase isozyme 4", "tax_id": 9606, "disease": "brucellosis (Disease Ontology:DOID:11077); depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:5141); (R-HSA-180024); (R-HSA-418555)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "10604473;11007482;11237011;11306681;11566027;12036966;12058044;12065642;12106601;12180353;12860470;13549488;14671004;14759258;1517224;15738310;15765929;15769620;15951850;16313925;16687412;16923326;17168849;17535922;17727341;18044684;18095939;18577758;19105585;19690332;19876791;19929708;20196770;20381629;21036126;21323643;2160582;2163110;22424782;23186163;2417744;24687066;24715725;2491850;2553411;2553705;25576301;26154972;26417854;26992070;2871555;28832583;28834231;28904123;29443750;29508533;29602314;30524438;30833991;3127824;31279028;31399091;31844290;31983287;32226383;32488085;32497535;32502341;32540603;32618402;32715661;33049737;33936100;33968037;33981976;35051231;36284347;36581221;37735782;37938771;38141200;38521388;38540428;38797258;6085243;6087160;6296685;6330098;6501302;7772058;7888306;8340388;8413254;8514797;8663227;8672451;9099992;9263355;9371714;9417641;9651336;9677330", "class_list": "", "function": "Combined PDE4+MEK inhibition shows antiproliferative effects in NRASQ61 mutated melanoma preclinical models., [RefSeq, PubMed]; Efficiently hydrolyzes cAMP., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Efficiently hydrolyzes cAMP. The phosphodiesterase activity is not affected by calcium, calmodulin or cyclic GMP (cGMP) levels. Does not hydrolyze cGMP., [UniProtKB, PubMed]; Hydrolyzes the second messenger 3',5'-cyclic AMP (cAMP), which is a key regulator of many important physiological processes., [UniProtKB, PubMed, PubMed]; Increased expression of phosphodiesterase 4 in activated hepatic stellate cells promotes cytoskeleton remodeling and cell migration., [RefSeq, PubMed]; Low PDE4A expression promoted the progression of ovarian cancer by inducing Snail nuclear translocation., [RefSeq, PubMed]; PDE4 Gene Family Variants Are Associated with Response to Apremilast Treatment in Psoriasis. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory pathways and therapeutic potential of PDE4 in liver pathophysiology. Review article, [RefSeq, PubMed]; The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]., [RefSeq]", "predicted_glycosites": 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": 20, "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": "O75522;O76092;Q16255;Q16691;Q5DM53;Q6PMT2;Q8IVA7;Q8WUQ3;Q9H3H2", "ec_number_list": "3.1.4.-;3.1.4.17;3.1.4.53;3.1.4.1;3.6.1.9;3.6.1.25;3.6.1.14;3.1.4.35", "go_molecular_function": "GO:0046872 metal ion binding;GO:0030552 cAMP binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0032587 ruffle membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0006198 cAMP catabolic process;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "P27815-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35558-1", "uniprot_id": "PCKGC_HUMAN", "mass": 69195.0, "length": 622, "protein_name": "Phosphoenolpyruvate carboxykinase, cytosolic [GTP]", "gene_name": "PCK1", "organism": "Human", "refseq_name": "phosphoenolpyruvate carboxykinase, cytosolic [GTP]", "refseq_ac": "NP_002582", "gene_names_uniprotkb": "PCK1; PEPCK1", "gene_names_refseq": "PCK1; PCKDC; PEPCK-C; PEPCK1; PEPCKC", "protein_names_uniprotkb": "Phosphoenolpyruvate carboxykinase, cytosolic [GTP]; 2.7.11.-; 4.1.1.32; PEPCK-C; Serine-protein kinase PCK1", "protein_names_refseq": "PEP carboxykinase; phosphoenolpyruvate carboxykinase 1 (soluble); phosphoenolpyruvate carboxykinase, cytosolic [GTP]; phosphoenolpyruvate carboxykinase, cytosolic; phosphoenolpyruvate carboxylase; phosphopyruvate carboxylase; serine-protein kinase PCK1", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); Alzheimer's disease (Disease Ontology:DOID:10652); type 2 diabetes mellitus (Disease Ontology:DOID:9352); phosphoenolpyruvate carboxykinase deficiency, cytosolic (MONDO:MONDO:0009866)", "pathway": " (hsa:5105); (R-HSA-2161541); (R-HSA-381340); (R-HSA-70263); (R-HSA-9615017); (R-HSA-9632974); (R-HSA-9940951)", "pathway_count": 7, "publication_count": 135, "publication_id_list": "10075656;10102273;10204490;10217147;10229653;10358014;10425206;10480625;10714828;10913147;10970879;10978333;11095972;11506403;11779849;11851336;11872672;12093795;12213831;12239572;12399160;12437512;1278465;12829629;12965222;1383219;14552798;14718531;14722102;15273253;15710582;15850785;15919796;16380219;1656199;16783365;16840535;17011499;17405878;17532214;17646674;17684114;17980149;18337460;183598;18449899;18452278;18613815;18931025;19043829;19115207;19118303;19172745;20068231;20101261;20167786;21536589;21726808;21755941;21949678;23239344;23506893;24028821;24040102;24275569;24554700;24715725;24863970;25150861;2549385;25593309;26971250;26992070;27547294;27633282;27732854;27862975;28216384;2848805;29042441;29237092;29557506;30045876;30134174;30193097;31154438;31492838;3170585;31746185;3208766;32322062;32809272;32938616;3355497;3529090;35494241;35580925;36008597;37166978;37435980;37924129;38378770;38697449;4827367;5009693;6434534;6771269;7144574;7391027;7573034;7717389;7969165;8211187;8325643;8325954;8447317;8490617;8547315;8571957;8643605;8645161;8706692;8770873;8970730;9065481;9145876;9382095;9428641;9454824;9512513;9585002;9657976;9678974;9758626;9836620", "class_list": "", "function": "Cytosolic phosphoenolpyruvate carboxykinase that catalyzes the reversible decarboxylation and phosphorylation of oxaloacetate (OAA) and acts as the rate-limiting enzyme in gluconeogenesis (PubMed:24863970, PubMed:26971250, PubMed:28216384, PubMed:30193097). Regulates cataplerosis and anaplerosis, the processes that control the levels of metabolic intermediates in the citric acid cycle (PubMed:24863970, PubMed:26971250, PubMed:28216384, PubMed:30193097). At low glucose levels, it catalyzes the cataplerotic conversion of oxaloacetate to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle (PubMed:30193097). At high glucose levels, it catalyzes the anaplerotic conversion of phosphoenolpyruvate to oxaloacetate (PubMed:30193097). Acts as a regulator of formation and maintenance of memory CD8(+) T-cells: up-regulated in these cells, where it generates phosphoenolpyruvate, via gluconeogenesis (By similarity). The resultant phosphoenolpyruvate flows to glycogen and pentose phosphate pathway, which is essential for memory CD8(+) T-cells homeostasis (By similarity). In addition to the phosphoenolpyruvate carboxykinase activity, also acts as a protein kinase when phosphorylated at Ser-90: phosphorylation at Ser-90 by AKT1 reduces the binding affinity to oxaloacetate and promotes an atypical serine protein kinase activity using GTP as donor (PubMed:32322062). The protein kinase activity regulates lipogenesis: upon phosphorylation at Ser-90, translocates to the endoplasmic reticulum and catalyzes phosphorylation of INSIG proteins (INSIG1 and INSIG2), thereby disrupting the interaction between INSIG proteins and SCAP and promoting nuclear translocation of SREBP proteins (SREBF1/SREBP1 or SREBF2/SREBP2) and subsequent transcription of downstream lipogenesis-related genes (PubMed:32322062)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Dysregulation of phosphoenolpyruvate carboxykinase in cancers: A comprehensive analysis., [RefSeq, PubMed]; Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families. Publication Status: Online-Only, [RefSeq, PubMed]; Gluconeogenic enzyme PCK1 supports S-adenosylmethionine biosynthesis and promotes H3K9me3 modification to suppress hepatocellular carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; Suppression of SLC39A6-CREB1 axis in liver cancer causes PCK1-mediated mitochondrial dysfunction., [RefSeq, PubMed]; This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of p300 in paclitaxel-resistant TNBC: implications for cell proliferation via the PCK1/AMPK axis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 28, "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": "A8K437;B4DT64;Q8TCA3;Q9UJD2", "ec_number_list": "4.1.1.32;2.7.11.-;2.7.11.22;2.7.11.23;2.3.1.48;2.3.1.-;3.6.4.-;3.5.1.-;3.5.1.98;3.1.13.1;5.6.2.6;3.6.4.13", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005525 GTP binding;GO:0030145 manganese ion binding;GO:0031406 carboxylic acid binding;GO:0004613 phosphoenolpyruvate carboxykinase (GTP) activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0046327 glycerol biosynthetic process from pyruvate;GO:0032869 cellular response to insulin stimulus;GO:0042594 response to starvation;GO:0071333 cellular response to glucose stimulus;GO:0046889 positive regulation of lipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "P35558-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51160-1", "uniprot_id": "PDE6C_HUMAN", "mass": 99147.0, "length": 858, "protein_name": "Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'", "gene_name": "PDE6C", "organism": "Human", "refseq_name": "cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'", "refseq_ac": "NP_006195", "gene_names_uniprotkb": "PDE6C; PDEA2", "gene_names_refseq": "ACHM5; COD4; PDE6C; PDEA2", "protein_names_uniprotkb": "Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'; 3.1.4.35; cGMP phosphodiesterase 6C", "protein_names_refseq": "cGMP phosphodiesterase 6C; cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'; phosphodiesterase 6C, cGMP-specific, cone, alpha prime", "tax_id": 9606, "disease": "cone-rod dystrophy (Disease Ontology:DOID:0050572); achromatopsia (Disease Ontology:DOID:13911); retinal degeneration (Disease Ontology:DOID:8466); cone dystrophy 4 (MONDO:MONDO:0013129)", "pathway": " (hsa:5146)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10393054;18452278;19615668;21127010;21248752;23481700;24714562;28514659;28583373;29242379;32387766;32787476;33001157;35051231;35494241;35644251;38110033;38956522;7490077;8543163;8641425", "class_list": "", "function": "An enhancer located in a Pde6c intron drives transient expression in the cone photoreceptors of developing mouse and human retinas., [RefSeq, PubMed]; As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP., [UniProtKB, PubMed, PubMed]; Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. Erratum:[BMC Med Genomics. 2025 Aug 4;18(1):126. doi: 10.1186/s12920-025-02197-2. PMID: 40760435] Publication Status: Online-Only, [RefSeq, PubMed]; PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults., [RefSeq, PubMed]; Reconstitution of the phosphodiesterase 6 maturation process important for photoreceptor cell function., [RefSeq, PubMed]; This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]., [RefSeq]; Two novel PDE6C gene mutations in Chinese family with achromatopsia., [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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NCR6;Q5VY29", "ec_number_list": "3.1.4.-;3.1.4.17;3.1.4.35;3.6.1.25;3.6.1.14;3.1.4.53", "go_molecular_function": "GO:0046872 metal ion binding;GO:0030553 cGMP binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0097381 photoreceptor disc membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007601 visual perception;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P51160-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P52945-1", "uniprot_id": "PDX1_HUMAN", "mass": 30771.0, "length": 283, "protein_name": "Pancreas/duodenum homeobox protein 1", "gene_name": "PDX1", "organism": "Human", "refseq_name": "pancreas/duodenum homeobox protein 1", "refseq_ac": "NP_000200", "gene_names_uniprotkb": "PDX1; IPF1; STF1", "gene_names_refseq": "GSF; IDX-1; IPF1; IUF1; MODY4; PAGEN1; PDX-1; PDX1; STF-1", "protein_names_uniprotkb": "Pancreas/duodenum homeobox protein 1; GSF; Glucose-sensitive factor; IDX-1; IPF-1; IUF-1; Insulin promoter factor 1; Insulin upstream factor 1; Islet/duodenum homeobox-1; PDX-1; STF-1; Somatostatin-transactivating factor 1", "protein_names_refseq": "IPF-1; IUF-1; glucose-sensitive factor; insulin promoter factor 1, homeodomain transcription factor; insulin upstream factor 1; islet/duodenum homeobox-1; pancreas/duodenum homeobox protein 1; pancreatic-duodenal homeobox factor 1; somatostatin transcription factor 1; somatostatin-transactivating factor 1", "tax_id": 9606, "disease": "maturity-onset diabetes of the young (Disease Ontology:DOID:0050524); pancreatic agenesis (Disease Ontology:DOID:0050877); pancreatic agenesis 1 (Disease Ontology:DOID:0061003); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); maturity-onset diabetes of the young type 4 (Disease Ontology:DOID:0111103); cerebral infarction (Disease Ontology:DOID:3526); placental insufficiency (Disease Ontology:DOID:3891); hyperglycemia (Disease Ontology:DOID:4195); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3651); (R-HSA-210745); (R-HSA-210747); (R-HSA-9925561); (R-HSA-9925563); (R-HSA-9937080)", "pathway_count": 6, "publication_count": 21, "publication_id_list": "10545530;10545531;12810726;16141209;16166097;16407209;17052199;19833727;20637728;22509401;24633305;30078552;37652665;38171340;38587174;38881001;7590740;8635654;8988180;9252422;9326926", "class_list": "", "function": "Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell., [UniProtKB]; Novel pathogenic PDX1 gene variant in a Korean family with maturity-onset diabetes of the young. Publication Status: Online-Only, [RefSeq, PubMed]; RFX6 regulates human intestinal patterning and function upstream of PDX1. Erratum:[Development. 2024 Sep 15;151(18):dev204379. doi: 10.1242/dev.204379. PMID: 39302049], [RefSeq, PubMed]; Repression of latent NF-kappaB enhancers by PDX1 regulates beta cell functional heterogeneity., [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]., [RefSeq]; [Characteristics of gastric neuroendocrine tumors and the PDX-1 transcription factor expression]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 14, "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": "O60594;Q5VYW2", "ec_number_list": "", "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0044877 protein-containing complex 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:0005829 cytosol;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0043279 response to alkaloid;GO:0010157 response to chlorate;GO:0033273 response to vitamin;GO:0006091 generation of precursor metabolites and energy;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P52945-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13608-1", "uniprot_id": "PEX6_HUMAN", "mass": 104061.0, "length": 980, "protein_name": "Peroxisomal ATPase PEX6", "gene_name": "PEX6", "organism": "Human", "refseq_name": "peroxisome biogenesis factor 6 isoform 1", "refseq_ac": "NP_000278", "gene_names_uniprotkb": "PEX6; PXAAA1", "gene_names_refseq": "HMLR2; PAF-2; PAF2; PBD4A; PDB4B; PEX6; PXAAA1", "protein_names_uniprotkb": "Peroxisomal ATPase PEX6; 3.6.4.-; PAF-2; Peroxin-6; Peroxisomal biogenesis factor 6; Peroxisomal-type ATPase 1; Peroxisome assembly factor 2", "protein_names_refseq": "peroxin-6; peroxisomal AAA-type ATPase 1; peroxisomal ATPase PEX6; peroxisomal-type ATPase 1; peroxisome assembly factor 2; peroxisome biogenesis factor 6 isoform 1", "tax_id": 9606, "disease": "peroxisomal biogenesis disorder (Disease Ontology:DOID:0080377); peroxisome biogenesis disorder 4A (Disease Ontology:DOID:0080479); Heimler syndrome 2 (Disease Ontology:DOID:0080624); Peroxisome biogenesis disorder 4B (Disease Ontology:DOID:0081433); peroxisomal disease (Disease Ontology:DOID:906)", "pathway": " (hsa:5190); (R-HSA-9033241)", "pathway_count": 2, "publication_count": 135, "publication_id_list": "10022913;10408779;10562279;10673331;11101887;11355018;11546814;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15545321;15858711;16314507;16854980;17007944;17041890;17726030;18359941;18712838;19105186;19197237;19208625;19584060;19632994;20178365;21362118;21554508;21937992;21976670;21980954;22002062;22057399;22371489;22747494;23481700;23963456;24129315;24235149;24715725;24865970;25016021;25418920;25538232;25576301;25645385;25854684;25880248;26086376;26138649;26154972;26220973;26344566;26375851;26387595;26593283;26811146;26992070;27302843;27597759;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28521612;28611990;28765278;28787099;28832583;28904123;29242379;29393594;29508533;29557506;29632046;29632711;29789417;29884772;30192525;30315122;30429286;30779550;31154438;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32866347;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33968037;33981976;34171305;34211107;34509645;34932366;35051231;35580925;36241641;36284347;37144748;38154976;39894887;7719337;7790377;8670792;8824437;8858165;8940266;8991089;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder., [RefSeq, PubMed]; Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycling (PubMed:16314507, PubMed:16854980, PubMed:21362118, PubMed:29884772). Specifically recognizes PEX5 monoubiquitinated at 'Cys-11', and pulls it out of the peroxisome lumen through the PEX2-PEX10-PEX12 retrotranslocation channel (PubMed:29884772). Extraction by the PEX1-PEX6 AAA ATPase complex is accompanied by unfolding of the TPR repeats and release of bound cargo from PEX5 (PubMed:29884772)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature., [RefSeq, PubMed]; This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]., [RefSeq]; [Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T8W1;Q8WYQ0;Q8WYQ1;Q8WYQ2;Q99476", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;2.3.2.27;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;2.3.2.36;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;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:0140036 ubiquitin-modified protein reader activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0044877 protein-containing complex binding;GO:0140318 protein transporter activity", "go_cellular_component": "GO:0097733 photoreceptor cell cilium;GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "GO:0016561 protein import into peroxisome matrix, translocation;GO:0043335 protein unfolding;GO:0007031 peroxisome organization;GO:0050821 protein stabilization;GO:0006625 protein targeting to peroxisome", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q13608-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q460N3-1", "uniprot_id": "PAR15_HUMAN", "mass": 74576.0, "length": 678, "protein_name": "Protein mono-ADP-ribosyltransferase PARP15", "gene_name": "PARP15", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase PARP15 isoform 1", "refseq_ac": "NP_001106995", "gene_names_uniprotkb": "PARP15; BAL3", "gene_names_refseq": "ARTD7; BAL3; PARP15; pART7", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase PARP15; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 7; ARTD7; B-aggressive lymphoma protein 3; PARP-15; Poly [ADP-ribose] polymerase 15", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 7; B-aggressive lymphoma 3; B-aggressive lymphoma protein 3; PARP-15; poly [ADP-ribose] polymerase 15; protein mono-ADP-ribosyltransferase PARP15 isoform 1; protein mono-ADP-ribosyltransferase PARP15", "tax_id": 9606, "disease": "atherosclerosis (Disease Ontology:DOID:1936)", "pathway": " (hsa:165631)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;16061477;19913121;20106667;20628086;22823910;23473667;24714562;25043379;25576301;25635049;25880248;26154972;26992070;27610459;27846572;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;31154438;31217245;31844290;31937595;32357974;32488085;32502341;32983136;33141586;33298915;33691108;33717175;33936100;33968037;34185709;34932366;35051231;35318648;35580925;36010968", "class_list": "", "function": "BAL macro domains repress transcription when tethered to a promoter; BAL2 and BAL3, but not BAL1, exhibit PARP activity, [RefSeq, PubMed]; Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins (PubMed:16061477, PubMed:25043379, PubMed:25635049). Acts as a negative regulator of transcription (PubMed:16061477)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The current study investigated the possible association between PARP15 single-nucleotide polymorphisms and the risk of acute myeloid leukemia (AML). The results from a Cox regression analysis for overall survival revealed that two polymorphisms associated with increased overall survival and the signal for rs17208928 was retained after correcting for multiple tests. rs17208928 showed a significant association 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": 3, "reported_glycation": 0, "reported_snv": 17, "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": "J3KR47;Q8N1K3", "ec_number_list": "2.4.2.-;2.4.2.30", "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0003714 transcription corepressor activity;GO:0070403 NAD+ binding;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0010629 negative regulation of gene expression;GO:0070212 protein poly-ADP-ribosylation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q460N3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q460N5-6", "uniprot_id": "PAR14_HUMAN", "mass": 202800.0, "length": 1801, "protein_name": "Protein mono-ADP-ribosyltransferase PARP14", "gene_name": "PARP14", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase PARP14", "refseq_ac": "NP_060024", "gene_names_uniprotkb": "PARP14; BAL2; KIAA1268", "gene_names_refseq": "ARTD8; BAL2; PARP-14; PARP14; pART8", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase PARP14; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 8; ARTD8; B aggressive lymphoma protein 2; PARP-14; Poly [ADP-ribose] polymerase 14", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 8; B-aggressive lymphoma 2; b aggressive lymphoma protein 2; collaborator of STAT6; poly [ADP-ribose] polymerase 14; protein mono-ADP-ribosyltransferase PARP14", "tax_id": 9606, "disease": "", "pathway": " (hsa:54625); (R-HSA-196807); (R-HSA-9683610); (R-HSA-9694631)", "pathway_count": 4, "publication_count": 194, "publication_id_list": "10.1101/2023.09.13.557529;10331643;10613898;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;15848177;16061477;16103198;16118205;16344560;1637327;16690024;17402747;17478423;17604275;17641676;17868694;17914902;18411268;18851833;19106108;19531469;20106667;20388704;2129526;21504897;21699903;21933152;21994945;22343925;22424782;22645359;22701565;22822066;22823910;23186163;23212377;23230272;23473667;23481700;23783831;24029068;24275569;24366607;24397554;24714562;24715725;24717514;24847004;25043379;25418920;25502872;25505266;25531177;25576301;25645385;25892735;26024233;26154972;26258887;26375851;26598975;26728094;26758079;26768311;26811146;26992070;27397612;27600516;27796300;27846572;27862975;27920218;28063628;28218747;28228285;28411811;28446606;28467828;28514659;28649982;28832583;28834231;28855257;28904123;29199039;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29858569;30315122;30379171;30410026;30429286;30524438;30573663;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32029454;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32637943;32645325;32723359;32817937;32877642;32897882;32906142;32938616;32983136;33087354;33123756;33141586;33248025;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33997890;34029587;34087483;34171305;34185709;34211107;34357683;34433824;34509645;34561969;34593624;34932366;35051231;35154160;35318648;35580925;36010968;36215666;36240223;36241641;36284347;36581221;37612499;37650946;37938771;38467180;38612413;40914422;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "ADP-ribosyltransferase that mediates mono-ADP-ribosylation of glutamate residues on target proteins (PubMed:16061477, PubMed:18851833, PubMed:25043379, PubMed:27796300). In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation (PubMed:25043379). Has been shown to catalyze the mono-ADP-ribosylation of STAT1 at 'Glu-657' and 'Glu-705', thus decreasing STAT1 phosphorylation which negatively regulates pro-inflammatory cytokine production in macrophages in response to IFNG stimulation (PubMed:27796300). However, the role of ADP-ribosylation in the prevention of STAT1 phosphorylation has been called into question and it has been suggested that the inhibition of phosphorylation may be the result of sumoylation of STAT1 'Lys-703' (PubMed:29858569). Mono-ADP-ribosylates STAT6; enhancing STAT6-dependent transcription (PubMed:27796300). In macrophages, positively regulates MRC1 expression in response to IL4 stimulation by promoting STAT6 phosphorylation (PubMed:27796300). Mono-ADP-ribosylates PARP9 (PubMed:27796300)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; BAL macro domains repress transcription when tethered to a promoter; BAL2 and BAL3, but not BAL1, exhibit PARP activity, [RefSeq, PubMed]; Exploration of glycosyltransferases mutation status in cervical cancer reveals PARP14 as a potential prognostic marker., [RefSeq, PubMed]; PARP enzymatic activity is associated with CoaSt6, and this function of CoaSt6 can append ADP-ribose to itself and p100, [RefSeq, PubMed]; PARP14 Contributes to the Development of the Tumor-Associated Macrophage Phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L., [RefSeq, PubMed]; Targeting PARP14 with lomitapide suppresses drug resistance through the activation of DRP1-induced mitophagy in multiple myeloma., [RefSeq, PubMed]; The PARP14-JNK1-PKM2 regulatory axis is an important determinant for the Warburg effect in tumour cells and provides a mechanistic link between apoptosis and metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the poly(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 27, "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": "B4E2H0;Q460N4;Q8J027;Q9H9X9;Q9NV60;Q9ULF2", "ec_number_list": "2.4.2.-;2.4.2.30", "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0019899 enzyme binding;GO:0003714 transcription corepressor activity;GO:0070403 NAD+ binding;GO:0016779 nucleotidyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0019677 NAD+ catabolic process;GO:0006351 DNA-templated transcription;GO:0010629 negative regulation of gene expression;GO:0045087 innate immune response;GO:0042532 negative regulation of tyrosine phosphorylation of STAT protein", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "Q460N5-6", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4G0U5-1", "uniprot_id": "PCDP1_HUMAN", "mass": 96891.0, "length": 840, "protein_name": "Cilia- and flagella-associated protein 221", "gene_name": "CFAP221", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 221", "refseq_ac": "NP_001257978", "gene_names_uniprotkb": "CFAP221; PCDP1", "gene_names_refseq": "CFAP221; CILD55; FAP221; PCDP1", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 221; Primary ciliary dyskinesia protein 1", "protein_names_refseq": "cilia- and flagella-associated protein 221; flagellar associated protein 221 homolog; primary ciliary dyskinesia 1 homolog; primary ciliary dyskinesia protein 1", "tax_id": 9606, "disease": "primary ciliary dyskinesia 55 (Disease Ontology:DOID:0061226)", "pathway": " (hsa:200373)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;18039845;28411811;28832583;31324691;31636325;32488085;36284347;38960684;39894887;40250778", "class_list": "", "function": "May play a role in cilium morphogenesis and ciliary function., [UniProtKB, PubMed, PubMed]; Plays an important role in ciliary and flagellar biogenesis and motility sperm flagella and the cilia of respiratory epithelial cells and brain ependymal cells in both mice and humans, [RefSeq, PubMed]; These results show that genetic variants in CFAP221 cause Pprimary ciliary dyskinesia (PCD) and that CFAP221 should be considered a candidate gene in cases where PCD is suspected but cilia structure and beat frequency appear normal., [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": 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": "B4DEK0;B4E2T5", "ec_number_list": "", "go_molecular_function": "GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0002177 manchette;GO:0005814 centriole", "go_biological_process": "GO:0060271 cilium assembly;GO:0044458 motile cilium assembly;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q4G0U5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6P474-1", "uniprot_id": "PDXD2_HUMAN", "mass": 51810.0, "length": 469, "protein_name": "Putative pyridoxal-dependent decarboxylase domain-containing protein 2", "gene_name": "PDXDC2P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PDXDC2P; PDXDC2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative pyridoxal-dependent decarboxylase domain-containing protein 2; 4.1.1.-; pyridoxal-dependent decarboxylase domain-containing 2 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 15, "publication_id_list": "24366607;26154972;27893789;29242379;31217245;31844290;32350084;32357974;32387766;32488085;32502341;32938616;33141586;33298915;34357683", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K9Z5", "ec_number_list": "", "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0016831 carboxy-lyase activity", "go_cellular_component": "", "go_biological_process": "GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6P474-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6TCH4-1", "uniprot_id": "PAQR6_HUMAN", "mass": 37989.0, "length": 344, "protein_name": "Membrane progestin receptor delta", "gene_name": "PAQR6", "organism": "Human", "refseq_name": "membrane progestin receptor delta isoform 2", "refseq_ac": "NP_001259033", "gene_names_uniprotkb": "PAQR6", "gene_names_refseq": "PAQR6; PRdelta", "protein_names_uniprotkb": "Membrane progestin receptor delta; Membrane progesterone P4 receptor delta; Membrane progesterone receptor delta; Progesterone and adipoQ receptor family member 6; Progestin and adipoQ receptor family member 6; mPR delta", "protein_names_refseq": "mPR delta; membrane progesterone P4 receptor delta; membrane progesterone receptor delta; membrane progestin receptor delta isoform 2; membrane progestin receptor delta; progesterone and adipoQ receptor family member 6; progestin and adipoQ receptor family member VI", "tax_id": 9606, "disease": "", "pathway": " (hsa:79957)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;16044242;18603275;23161870;23763432;24715725;28228285;29557506;29789417;31154438;34572596", "class_list": "", "function": "PAQR6 Upregulation Is Associated with AR Signaling and Unfavorite Prognosis in Prostate Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; PAQR6 is a previously uncharacterized PAQR which is also capable of responding to progesterone., [RefSeq, PubMed]; Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23161870, PubMed:23763432). Seems to act through a G(s) mediated pathway (PubMed:23161870). Involved in neurosteroid inhibition of apoptosis (PubMed:23161870). May be involved in regulating rapid P4 signaling in the nervous system (PubMed:23763432). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870, PubMed:23763432)., [UniProtKB, PubMed, PubMed]; The results suggest that PAQR6 and PAQR9 (mPRdelta and mPRepsilon) function as mPRs coupled to G proteins and are potential intermediaries of nonclassical antiapoptotic actions of neurosteroids in the central nervous system., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B7Z9R9;D3DVB4;D3DVB6;Q5TCK9;Q6PDU0;Q7Z4Q7;Q7Z4Q9;Q8N121;Q8N3M2;Q9H621", "ec_number_list": "", "go_molecular_function": "GO:0005496 steroid binding;GO:0038023 signaling receptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6TCH4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86W56-1", "uniprot_id": "PARG_HUMAN", "mass": 111110.0, "length": 976, "protein_name": "Poly(ADP-ribose) glycohydrolase", "gene_name": "PARG", "organism": "Human", "refseq_name": "poly(ADP-ribose) glycohydrolase isoform b", "refseq_ac": "NP_001290415", "gene_names_uniprotkb": "PARG", "gene_names_refseq": "PARG99; PARG", "protein_names_uniprotkb": "Poly(ADP-ribose) glycohydrolase; 3.2.1.143", "protein_names_refseq": "mitochondrial poly(ADP-ribose) glycohydrolase; poly(ADP-ribose) glycohydrolase isoform b", "tax_id": 9606, "disease": "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (Disease Ontology:DOID:0070352); brain infarction (Disease Ontology:DOID:3454); borna disease (Disease Ontology:DOID:5154)", "pathway": " (hsa:8505); (R-HSA-110362)", "pathway_count": 2, "publication_count": 124, "publication_id_list": "10.1101/2023.09.13.557529;10364231;10449915;11237011;11340072;11440997;11554294;12200445;12727891;14527731;15135726;15193131;15212953;15302935;15450800;15561706;15607977;15731342;16278211;16460818;16964243;17509564;17548475;17991898;18669648;18767875;19105632;19329425;19413330;19651622;19664994;19690332;19778542;20068231;20573551;21183466;21398629;21406692;21892188;22433848;22673905;23102699;23186163;23251397;23301498;23474714;23481255;23481700;23917065;24275569;24715725;24906880;25418920;25576301;25880248;26811146;26992070;27257257;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29557506;29632046;29632711;29786170;30379171;30429286;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33186521;33298915;33717175;33912179;33936100;33968037;33981976;34019811;34171305;34321462;34357683;34561969;34932366;35051231;35318648;35494241;35580925;36076593;36215666;36241641;36284347;37268618;37429965;37858678;6278323;8003475;8264597;8663274;9214649;9685411;9804757", "class_list": "", "function": "O-GlcNAc has crosstalk with ADP-ribosylation via PARG., [RefSeq, PubMed]; PARG Promotes Esophagus Cancer Cell Metastasis by Activation of the Wnt/beta-Catenin Pathway., [RefSeq, PubMed]; Poly(ADP-ribose) glycohydrolase (PARG) is the major enzyme responsible for the catabolism of poly(ADP-ribose), a reversible covalent-modifier of chromosomal proteins. The protein is found in many tissues and may be subject to proteolysis generating smaller, active products. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]., [RefSeq]; Poly(ADP-ribose) glycohydrolase that degrades poly(ADP-ribose) by hydrolyzing the ribose-ribose bonds present in poly(ADP-ribose) (PubMed:15450800, PubMed:21892188, PubMed:23102699, PubMed:23474714, PubMed:33186521, PubMed:34019811, PubMed:34321462). Mainly acts as an exo-glycohydrolase but can act as an endo-glycohydrolase at low efficiency, releasing poly(ADP-ribose) of different length as well as ADP-ribose monomers (PubMed:23102699, PubMed:23481255, PubMed:37268618). It is however unable to cleave the ester bond between the terminal ADP-ribose and ADP-ribosylated residues, leaving proteins that are mono-ADP-ribosylated (PubMed:21892188, PubMed:23474714, PubMed:33186521, PubMed:37268618). Poly(ADP-ribose) synthesized after DNA damage is only present transiently and is rapidly degraded by PARG (PubMed:23102699, PubMed:34019811). Required to prevent detrimental accumulation of poly(ADP-ribose) upon prolonged replicative stress, while it is not required for recovery from transient replicative stress (PubMed:24906880). Responsible for the prevalence of mono-ADP-ribosylated proteins in cells, thanks to its ability to degrade poly(ADP-ribose) without cleaving the terminal protein-ribose bond (PubMed:33186521). Required for retinoid acid-dependent gene transactivation, probably by removing poly(ADP-ribose) from histone demethylase KDM4D, allowing chromatin derepression at RAR-dependent gene promoters (PubMed:23102699). Involved in the synthesis of ATP in the nucleus, together with PARP1, NMNAT1 and NUDT5 (PubMed:27257257). Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming (PubMed:27257257)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Upregulation of PARG in prostate cancer cells suppresses their malignant behavior and downregulates tumor-promoting genes., [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 24, "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": "A5YBK3;B2RC24;B4DIU5;B4DYR4;I6RUV3;Q6E4P6;Q6E4P7;Q7Z742;Q9Y4W7", "ec_number_list": "2.7.7.7;4.2.99.18;4.2.99.-;2.4.2.-;2.4.2.30;3.1.11.2;3.1.21.-;3.1.-.-;3.2.1.143;3.5.1.-;3.2.2.-", "go_molecular_function": "GO:0004649 poly(ADP-ribose) glycohydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006287 base-excision repair, gap-filling;GO:0005975 carbohydrate metabolic process;GO:0009225 nucleotide-sugar metabolic process;GO:0006282 regulation of DNA repair;GO:1990966 ATP generation from poly-ADP-D-ribose", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q86W56-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86WK9-1", "uniprot_id": "PAQR7_HUMAN", "mass": 39719.0, "length": 346, "protein_name": "Membrane progestin receptor alpha", "gene_name": "PAQR7", "organism": "Human", "refseq_name": "membrane progestin receptor alpha", "refseq_ac": "NP_848509", "gene_names_uniprotkb": "PAQR7; MRPA", "gene_names_refseq": "MPRA; PAQR7; PGLP; mSR", "protein_names_uniprotkb": "Membrane progestin receptor alpha; Membrane progesterone P4 receptor alpha; Membrane progesterone receptor alpha; Progesterone and adipoQ receptor family member 7; Progestin and adipoQ receptor family member 7; Progestin and adipoQ receptor family member VII; mPR alpha", "protein_names_refseq": "2310021M12Rik; mPR alpha; membrane progesterone P4 receptor alpha; membrane progesterone receptor alpha; membrane progestin receptor alpha; progesterone and adipoQ receptor family member 7; progestin and adipoQ receptor family member VII", "tax_id": 9606, "disease": "", "pathway": " (hsa:164091)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "12601167;12606724;16044242;23161870;23763432;25418920;25576301;25645385;25880248;25892735;26929215;27862975;28218747;28832583;28904123;29437277;29557506;29769354;30429286;30779550;31154438;31222486;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33592498;33717175;33912179;33968037;33981976;34171305;34185709;34509645;34932366;35007844;35051231;35494241;35580925;35974286;36010968;36241641;36967764;37558174;38317224", "class_list": "", "function": "Establishment of a steroid binding assay for membrane progesterone receptor alpha (PAQR7) by using graphene quantum dots (GQDs)., [RefSeq, PubMed]; Membrane Progesterone Receptor alpha (mPRalpha/PAQR7) Promotes Survival and Neurite Outgrowth of Human Neuronal Cells by a Direct Action and Through Schwann Cell-like Stem Cells., [RefSeq, PubMed]; Membrane progesterone receptors on the cell membrane: A review highlighting potential export motifs in mPRalpha regulating its trafficking to the cell surface. Review article, [RefSeq, PubMed]; Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (PubMed:12601167). Involved in neurosteroid inhibition of apoptosis (PubMed:23161870). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870)., [UniProtKB, PubMed, PubMed, PubMed]; Progesterone exerts a neuroprotective action in a Parkinson's disease human cell model through membrane progesterone receptor alpha (mPRalpha/PAQR7). Publication Status: Online-Only, [RefSeq, PubMed]; Progestin and adipoQ receptor 7 (PAQR7) mediate the anti-apoptotic effect of P4 on human granulosa cells and its deficiency reduces ovarian function in female mice. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2A2D3;Q5XKF9;Q86VE4", "ec_number_list": "", "go_molecular_function": "GO:0003707 nuclear steroid receptor activity;GO:0005496 steroid binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0048545 response to steroid hormone;GO:0048477 oogenesis", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q86WK9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N0Y7-1", "uniprot_id": "PGAM4_HUMAN", "mass": 28777.0, "length": 254, "protein_name": "Probable phosphoglycerate mutase 4", "gene_name": "PGAM4", "organism": "Human", "refseq_name": "phosphoglycerate mutase 4", "refseq_ac": "NP_001025062", "gene_names_uniprotkb": "PGAM4; PGAM3", "gene_names_refseq": "PGAM-B; PGAM1; PGAM3; PGAM4; dJ1000K24.1", "protein_names_uniprotkb": "Probable phosphoglycerate mutase 4; 5.4.2.11; 5.4.2.4", "protein_names_refseq": "phosphoglycerate mutase 4; phosphoglycerate mutase family 3; phosphoglycerate mutase processed protein; probable phosphoglycerate mutase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:441531)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11961099;16201836;16408927;17081983;18669648;19615748;19651622;22590500;23631659;27543614;28228285;28832583;29242379;29508533;29632711;30192525;30315122;31848261;36580660", "class_list": "", "function": "May catalyze the interconversion of 2-phosphoglycerate and 3-phosphoglycerate, a crucial step in glycolysis, by using 2,3-bisphosphoglycerate. May also catalyze the interconversion of (2R)-2,3-bisphosphoglycerate and (2R)-3-phospho-glyceroyl phosphate., [UniProtKB, UniProtKB]; PGAM4 coding region mutations were not observed and the G75C polymorphism is not associated with non-obstructive azoospermia susceptibility among the Chinese Han population., [RefSeq, PubMed]; PGAM4, an X-linked retrogene, is a fundamental gene in human male reproduction and may escape meiotic sex chromosome inactivation., [RefSeq, PubMed]; This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a phosphate group from 3-phosphoglycerate to 2-phosphoglycerate. [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JPN2;Q8NI24;Q8NI25;Q8NI26", "ec_number_list": "5.4.2.11;5.4.2.4", "go_molecular_function": "GO:0004082 bisphosphoglycerate mutase activity;GO:0004619 phosphoglycerate mutase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0097228 sperm principal piece", "go_biological_process": "GO:0006096 glycolytic process;GO:1902093 positive regulation of flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8N0Y7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4S7-1", "uniprot_id": "PAQR4_HUMAN", "mass": 29126.0, "length": 273, "protein_name": "Progestin and adipoQ receptor family member 4", "gene_name": "PAQR4", "organism": "Human", "refseq_name": "progestin and adipoQ receptor family member 4 isoform 2", "refseq_ac": "NP_001271440", "gene_names_uniprotkb": "PAQR4", "gene_names_refseq": "PAQR4", "protein_names_uniprotkb": "Progestin and adipoQ receptor family member 4; Progestin and adipoQ receptor family member IV", "protein_names_refseq": "progestin and adipoQ receptor family member 4 isoform 2; progestin and adipoQ receptor family member IV", "tax_id": 9606, "disease": "", "pathway": " (hsa:124222)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;16044242;24714562;24715725;25576301;25645385;26154972;26375851;26992070;27846572;27862975;28218747;28514659;28832583;28904123;29228296;29242379;29437277;29493099;29508533;29557506;29786170;30315122;30322804;30524438;30779550;31217245;31844290;32157095;32206121;32291319;32357974;32387766;32488085;32502341;33141586;33392160;34185709;34357683;34718369;35051231;35240821;35561310;36215666;36241641;36241701;37945022;38253038;38961186", "class_list": "", "function": "Data indicate that PAQR4 has a tumorigenic effect on human breast cancers, and such effect is associated with a modulatory activity of PAQR4 on protein degradation of CDK4, [RefSeq, PubMed]; High PAQR4 mRNA Expression May Play a Key Role in Prognosis of Kidney Renal Papillary Cell Carcinoma., [RefSeq, PubMed]; Overexpressed PAQR4 predicts poor overall survival and construction of a prognostic nomogram based on PAQR family for hepatocellular carcinoma., [RefSeq, PubMed]; PAQR4 (Progestin and AdipoQ Receptor 4) expression is closely associated with progression of many cancers and microRNA (miRNA) processing., [RefSeq, PubMed]; PAQR4 promotes chemoresistance in non-small cell lung cancer through inhibiting Nrf2 protein degradation. Publication Status: Online-Only, [RefSeq, PubMed]; PAQR4 promotes the development of hepatocellular carcinoma by activating PI3K/AKT pathway., [RefSeq, PubMed]; Plays a role in maintaining adipose tissue function through the regulation of ceramide levels (PubMed:32291319, PubMed:38961186). Mediates the stability of ceramide synthetases, CERS2 and CERS5, and their activities (Probable)., [UniProtKB, PubMed, PubMed]; VEZF1, destabilized by STUB1, affects cellular growth and metastasis of hepatocellular carcinoma by transcriptionally regulating PAQR4., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K5Q8;D3DUA2;D3DUA3;Q8NAS6;Q96NW1", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:2000303 regulation of ceramide biosynthetic process;GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q8N4S7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TAB3-1", "uniprot_id": "PCD19_HUMAN", "mass": 126253.0, "length": 1148, "protein_name": "Protocadherin-19", "gene_name": "PCDH19", "organism": "Human", "refseq_name": "protocadherin-19 isoform a precursor", "refseq_ac": "NP_001098713", "gene_names_uniprotkb": "PCDH19; KIAA1313", "gene_names_refseq": "DEE9; EFMR; EIEE9; PCDH19", "protein_names_uniprotkb": "Protocadherin-19", "protein_names_refseq": "protocadherin-19 isoform a precursor", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 9 (Disease Ontology:DOID:0060848)", "pathway": " (hsa:57526); (R-HSA-9830364)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11549318;18469813;19214208;19752159;20713952;20830798;21053371;21480887;21519002;22050978;22267240;23090970;24190977;24715725;25505266;25576301;25818041;26993267;27864847;28489076;28832583;30429286;33912179;35051231;35580925;38238304;38454084;38891919", "class_list": "", "function": "Calcium-dependent cell-adhesion protein., [UniProtKB, UniProtKB]; Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation of PCDH19 plays a major role in epileptic encephalopathies, mainly affects females. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[PLoS Genet. 2009 Apr;5(4). doi: 10.1371/annotation/314060d5-06da-46e0-b9e4-57194e8ece3a], [RefSeq, PubMed]; NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/beta-catenin signalling pathway., [RefSeq, PubMed]; The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]., [RefSeq]; X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment, [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": 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": 71, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B0LDS4;E9PAM6;Q5JTG1;Q5JTG2;Q68DT7;Q9P2N3", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8TAB3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WW12-1", "uniprot_id": "PCNP_HUMAN", "mass": 18925.0, "length": 178, "protein_name": "PEST proteolytic signal-containing nuclear protein", "gene_name": "PCNP", "organism": "Human", "refseq_name": "PEST proteolytic signal-containing nuclear protein isoform b", "refseq_ac": "NP_001307324", "gene_names_uniprotkb": "PCNP", "gene_names_refseq": "PCNP", "protein_names_uniprotkb": "PEST proteolytic signal-containing nuclear protein; PCNP; PEST-containing nuclear protein", "protein_names_refseq": "PEST proteolytic signal-containing nuclear protein isoform b; PEST-containing nuclear protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57092)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;12176013;14741369;17287340;17322306;17924679;18507432;18669648;19413330;19415658;19608861;19651622;19664994;20068231;20154145;20166139;21406692;23186163;24715725;25576301;26768311;26992070;27600516;27920218;28218747;28228285;28832583;29242379;29393594;29508533;29557506;29632711;29716528;29789417;30059200;30429286;30524438;30620550;31217245;31373491;31492838;31844290;32119511;32157095;32387766;32548978;32938616;33141586;33298915;33592498;33629294;33968037;34019948;34171305;34509645;35051231;35132862;35254053;35513511;35813472;38838015;39531497;40307207;40596516", "class_list": "", "function": "May be involved in cell cycle regulation., [UniProtKB]; NIRF has ubiquitination activity, the hallmark of a ubiquitin ligase. PCNP was readily ubiquitinated in 293 and COS-7 cells, and NIRF ubiquitinated PCNP in vitro as well as in vivo., [RefSeq, PubMed]; PCNP is a novel regulator of proliferation, migration, and invasion in human thyroid cancer. Publication Status: Online-Only, [RefSeq, PubMed]; PCNP mediates the proliferation, migration, and invasion of human neuroblastoma cells through mitogen-activated protein kinase and PI3K/AKT/mTOR signaling pathways, implying that PCNP is a therapeutic target for patients with neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; PCNP promotes ovarian cancer progression by accelerating beta-catenin nuclear accumulation and triggering EMT transition., [RefSeq, PubMed]; TIPE2 and PCNP expression abnormalities in peripheral blood mononuclear cells associated with disease activity in rheumatoid arthritis: a meta-analysis. 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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "B2RBE7;D3DN52;Q53GF3;Q6AI44;Q96CU3;Q9NS81", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q8WW12-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NT5-1", "uniprot_id": "PCFT_HUMAN", "mass": 49771.0, "length": 459, "protein_name": "Proton-coupled folate transporter", "gene_name": "SLC46A1", "organism": "Human", "refseq_name": "proton-coupled folate transporter isoform 2", "refseq_ac": "NP_001229295", "gene_names_uniprotkb": "SLC46A1; G21; HCP1; PCFT", "gene_names_refseq": "G21; HCP1; HsPCFT; PCFT; SLC46A1; hPCFT", "protein_names_uniprotkb": "Proton-coupled folate transporter; Heme carrier protein 1; HsPCFT; PCFT/HCP1; Solute carrier family 46 member 1; hPCFT", "protein_names_refseq": "heme carrier protein 1; proton-coupled folate transporter isoform 2; proton-coupled folate transporter; solute carrier family 46 (folate transporter), member 1", "tax_id": 9606, "disease": "hereditary folate malabsorption (Disease Ontology:DOID:0111678); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:113235); (R-HSA-196757); (R-HSA-917937); (R-HSA-9707616)", "pathway_count": 4, "publication_count": 149, "publication_id_list": "10.1101/2023.09.13.557529;10091649;10198158;10347183;10381560;10597293;10978331;11237011;11323407;11387216;12130498;12356737;12453412;12504026;12511571;12937168;12958161;14576842;15001581;15044468;15175654;15201052;15531878;15537541;15665827;15761026;16143108;16171773;16274220;16377569;16407072;16510471;17129779;17156779;17308042;17335806;17446347;17475902;17947394;17962486;18006707;18037887;18194661;18405659;18524888;18559978;18669648;18691976;19007248;19074442;19159218;19389703;19424049;1946430;19710360;19762432;19762596;19762597;19948730;20068231;20498374;20550936;20581824;20686069;20795774;20805364;20817722;21163947;21238436;21333572;21479263;2154449;21876188;22345511;2248959;23186163;23409799;23481700;23601781;23615448;23816405;23934049;24190977;24715725;24733394;25053408;2539258;25504888;25576301;25608532;2605182;26992070;27754849;28111073;28802835;28832583;28904123;29242379;29326243;29344585;29390264;29557506;3053686;30858177;31494288;31748741;31792273;32157095;32354867;32387766;32423175;32488085;32502341;32621820;32658475;32695117;32893190;32938616;33053560;33163492;3345742;33592498;33737637;34040256;34357683;34619546;35051231;35811443;36010968;36215666;3801490;3871768;39894887;4066659;6323448;7726158;7852378;7983023;8041788;8218174;8415693;8522195;8622974;8662720;8695634;8887638;9079689;9144434;9753690", "class_list": "", "function": "A loss-of-function mutation in PCFT/HCP1 is the molecular basis for hereditary folate malabsorption in a family with this disease., [RefSeq, PubMed]; Folate transporter dynamics and therapy with classic and tumor-targeted antifolates. Publication Status: Online-Only, [RefSeq, PubMed]; HCP-1 expression in human macrophages is downregulated by TLR agonists & IFN-gamma, upregulated by dexamethasone. In early endosomes, it colocalizes with endocytosed Hb-haptoglobin (Hp) complexes, taken up by the CD163 scavenger receptor pathway., [RefSeq, PubMed]; HCP1 expression in different cells implies a functional role in tissues other than the duodenum, [RefSeq, PubMed]; Inactive isoform which is not able to mediate proton-coupled folate transport., [UniProtKB, PubMed]; Loss of SLC46A1 decreases tumor iron content in hepatocellular carcinoma., [RefSeq, PubMed]; Our data revealed low-level wider expression of human HCP1 transcript in multiple tissues suggesting that it is responsible for heme transport in the body, not the intestine alone., [RefSeq, PubMed]; Proton-coupled folate symporter that mediates folate absorption using an H(+) gradient as a driving force (PubMed:17129779, PubMed:17446347, PubMed:17475902, PubMed:19389703, PubMed:19762432, PubMed:25504888, PubMed:29344585, PubMed:30858177, PubMed:31494288, PubMed:31792273, PubMed:32893190, PubMed:34619546). Involved in the intestinal absorption of folates at the brush-border membrane of the proximal jejunum, and the transport from blood to cerebrospinal fluid across the choroid plexus (PubMed:17129779, PubMed:17446347, PubMed:17475902, PubMed:19389703, PubMed:25504888, PubMed:29344585, PubMed:30858177, PubMed:31494288, PubMed:32893190). Functions at acidic pH via alternate outward- and inward-open conformation states (PubMed:32893190, PubMed:34040256). Protonation of residues in the outward open state primes the protein for transport (PubMed:34040256). Binding of folate promotes breaking of salt bridge network and subsequent closure of the extracellular gate, leading to the inward-open state and release of protons and folate (PubMed:34040256). Also able to transport antifolate drugs, such as methotrexate and pemetrexed, which are established treatments for cancer and autoimmune diseases (PubMed:18524888, PubMed:19762432, PubMed:22345511, PubMed:25608532, PubMed:28802835, PubMed:29326243, PubMed:34040256, PubMed:34619546). Involved in FOLR1-mediated endocytosis by serving as a route of export of folates from acidified endosomes (PubMed:19074442). Also acts as a lower-affinity, pH-independent heme carrier protein and constitutes the main importer of heme in the intestine (PubMed:17156779). Imports heme in the retina and retinal pigment epithelium, in neurons of the hippocampus, in hepatocytes and in the renal epithelial cells (PubMed:32621820). Hence, participates in the trafficking of heme and increases intracellular iron content (PubMed:32621820)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural basis of antifolate recognition and transport by PCFT., [RefSeq, PubMed]; This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [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": 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": 2, "reported_mutagensis": 59, "reported_glycation": 0, "reported_snv": 11, "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": "Q1HE20;Q86T92;Q8TEG3;Q96FL0", "ec_number_list": "", "go_molecular_function": "GO:0015350 methotrexate transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0015232 heme transmembrane transporter activity;GO:0015293 symporter activity;GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0098829 intestinal folate absorption;GO:0046654 tetrahydrofolate biosynthetic process;GO:0055085 transmembrane transport;GO:0006879 intracellular iron ion homeostasis;GO:0046655 folic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "Q96NT5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZA7-1", "uniprot_id": "PC11X_HUMAN", "mass": 147558.0, "length": 1347, "protein_name": "Protocadherin-11 X-linked", "gene_name": "PCDH11X", "organism": "Human", "refseq_name": "protocadherin-11 X-linked isoform e precursor", "refseq_ac": "NP_001161832", "gene_names_uniprotkb": "PCDH11X; KIAA1326; PCDH11; PCDHX", "gene_names_refseq": "PCDH-X; PCDH-Y; PCDH11X; PCDH11Y; PCDH11; PCDH22; PCDHX; PPP1R119", "protein_names_uniprotkb": "Protocadherin-11 X-linked; PCDH-X; Protocadherin on the X chromosome; Protocadherin-11; Protocadherin-S", "protein_names_refseq": "Protocadherin on the Y chromosome; Protocadherin prostate cancer; Protocadherin-11 Y-linked; Protocadherin-22; Protocadherin-PC; protein phosphatase 1, regulatory subunit 119; protocadherin 11X; protocadherin on the X chromosome; protocadherin-11 X-linked isoform e precursor; protocadherin-S", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:27328)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1038/emboj.2013.79;10644456;11003707;14727141;16959974;20068231;21276771;22744706;23584533;23600975;24591081;24715725;25892735;29557506;29671580;31530632;31844290;32387766;34925382;35051231;37217939", "class_list": "", "function": "Our data...failed to confirm the association between PCDH11X polymorphisms and late-onset Alzheimer's disease, [RefSeq, PubMed]; PCDH11X expression was detected in the fetal neocortex, ganglionic eminences, cerebellum, and inferior olive. In the adult brain, the cerebral cortex, hippocampal formation, and cerebellum and brain stem were immunoreactive., [RefSeq, PubMed]; PCDH11X, expressed in brain is implicated in cell-cell communication, verbal ability, cerebral asymmetry, and dendritic synaptic plasticity, may be regarded as a new candidate gene for dyslexia., [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein., [UniProtKB]; The PCDH11X/Y gene pair determines cerebral asymmetry by initiating the right shift in Homo sapiens, [RefSeq, PubMed]; This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 82, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A6NIQ4;Q2TJH0;Q2TJH1;Q2TJH3;Q5JVZ0;Q70LR8;Q70LS7;Q70LS8;Q70LS9;Q70LT7;Q70LT8;Q70LT9;Q70LU0;Q70LU1;Q96RV4;Q96RW0;Q9BZA6;Q9H4E0;Q9P2M0;Q9P2X5", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9BZA7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZA8-1", "uniprot_id": "PC11Y_HUMAN", "mass": 146775.0, "length": 1340, "protein_name": "Protocadherin-11 Y-linked", "gene_name": "PCDH11Y", "organism": "Human", "refseq_name": "protocadherin-11 Y-linked isoform a", "refseq_ac": "NP_001265548", "gene_names_uniprotkb": "PCDH11Y; PCDH11; PCDH22; PCDHY", "gene_names_refseq": "PCDH-PC; PCDH11Y; PCDH22; PCDHX; PCDHY", "protein_names_uniprotkb": "Protocadherin-11 Y-linked; PCDH-Y; Protocadherin on the Y chromosome; Protocadherin prostate cancer; Protocadherin-11; Protocadherin-22; Protocadherin-PC", "protein_names_refseq": "protocadherin 22; protocadherin on the Y chromosome; protocadherin prostate cancer; protocadherin-11 Y-linked isoform a; protocadherin-PC", "tax_id": 9606, "disease": "", "pathway": " (hsa:83259)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11003707;11237011;12420223;14727141;16331680;17357069;19859901;20160060;22744706;23600975;24715725;28241900;29351928;33968037;34171305;35051231;37217939", "class_list": "", "function": "A 4.8 kb cDNA was cloned from TPA-resistance LNCaP prostate cancer cells. It is an unusual protocadherin family gene with 2 large overlapping ORFs encoding homologous polypeptides, one with and one without a signal sequence. [protocadherin-PC], [RefSeq, PubMed]; In the present study, PCDH11Yb, but not PCDH11Ya or PCDH11Yc, was expressed in germ cells isolated from the semen of all 13 men with proven fertility. However, in several subjects from various infertility classes, there was complete absence or a significant reduction in the expression of PCDH11Yb. In conclusion, expression levels of PCDH11Yb in germ cells in the semen were correlated with the fertility status of men., [RefSeq, PubMed]; PCDH11Y expression was detected in the fetal neocortex, ganglionic eminences, cerebellum, and inferior olive. In the adult brain, the cerebral cortex, hippocampal formation, and cerebellum and brain stem were immunoreactive., [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The PCDH11X/Y gene pair determines cerebral asymmetry by initiating the right shift in Homo sapiens, [RefSeq, PubMed]; The present article investigated the patterns of alternative splicing and expression of the PCDH11X/Y genes., [RefSeq, PubMed]; This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q70LR6;Q70LR8;Q70LS0;Q70LS1;Q70LS2;Q70LS3;Q70LS4;Q70LS5;Q8WY34;Q9BZA9;Q9H4E1", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0061827 sperm head;GO:0005886 plasma membrane;GO:0097225 sperm midpiece", "go_biological_process": "GO:0007155 cell adhesion;GO:0007283 spermatogenesis;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0030177 positive regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9BZA8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HBE1-1", "uniprot_id": "PATZ1_HUMAN", "mass": 74060.0, "length": 687, "protein_name": "POZ-, AT hook-, and zinc finger-containing protein 1", "gene_name": "PATZ1", "organism": "Human", "refseq_name": "POZ-, AT hook-, and zinc finger-containing protein 1 isoform long C", "refseq_ac": "NP_055138", "gene_names_uniprotkb": "PATZ1; PATZ; RIAZ; ZBTB19; ZNF278; ZSG", "gene_names_refseq": "MAZR; PATZ1; PATZ; RIAZ; ZBTB19; ZNF278; ZSG; dJ400N23", "protein_names_uniprotkb": "POZ-, AT hook-, and zinc finger-containing protein 1; BTB/POZ domain zinc finger transcription factor; Protein kinase A RI subunit alpha-associated protein; Zinc finger and BTB domain-containing protein 19; Zinc finger protein 278; Zinc finger sarcoma gene protein", "protein_names_refseq": "BTB-POZ domain zinc finger transcription factor; MAZ-related factor; POZ-, AT hook-, and zinc finger-containing protein 1 isoform long C; POZ-, AT hook-, and zinc finger-containing protein 1; POZ-AT hook-zinc finger protein; protein kinase A RI subunit alpha-associated protein; zinc finger and BTB domain-containing protein 19; zinc finger protein 278; zinc finger sarcoma gene protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23598)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;10713105;10949935;11744704;20068231;23186163;23301498;24366607;24714562;24715725;25576301;25645385;25755280;25892735;26154972;26728094;26992070;27600516;27846572;27920218;28228285;28649982;28832583;28834231;28855257;28904123;29242379;29493099;29508533;29557506;29632711;29769354;30315122;30429286;30484775;30524438;30779550;31060775;31154438;31217245;31222486;31530632;31844290;31848261;31875552;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33378126;33392160;33592498;33936100;33968037;33981976;34087483;34171305;34405274;34417833;34509645;35051231;35580925;36010968;36241641;36284347;37938771;38385086;39358382", "class_list": "", "function": "(Microbial infection) Plays a positive role in viral cDNA synthesis., [UniProtKB, PubMed]; Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination., [RefSeq, PubMed]; PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum., [RefSeq, PubMed]; POZ/BTB and AT hook containing zinc finger 1 (PATZ1) suppresses differentiation and regulates metabolism in human embryonic stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The short isoform of the Zinc finger Sarcoma Gene (ZSG) was isolated as a RNF4 interacting protein., [RefSeq, PubMed]; Transcription factor PATZ1 promotes adipogenesis by controlling promoter regulatory loci of adipogenic factors. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional regulator that plays a role in many biological processes such as embryogenesis, senescence, T-cell development or neurogenesis (PubMed:10713105, PubMed:25755280, PubMed:31875552). Interacts with the TP53 protein to control genes that are important in proliferation and in the DNA-damage response. Mechanistically, the interaction inhibits the DNA binding and transcriptional activity of TP53/p53 (PubMed:25755280). Part of the transcriptional network modulating regulatory T-cell development and controls the generation of the regulatory T-cell pool under homeostatic conditions (PubMed:31875552)., [UniProtKB, PubMed, PubMed, PubMed]; We report here the isolation and characterization of two novel nuclear BTB/POZ domain zinc finger isoformsthat are specifically expressed in early hippocampal neurons, cerebellar granule cells, and gliogenic progenitors as well as in differentiated glia, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9HBE2;Q9HBE3;Q9P1A9;Q9UDU0;Q9Y529", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "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:0002682 regulation of immune system process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9HBE1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HC56-1", "uniprot_id": "PCDH9_HUMAN", "mass": 136064.0, "length": 1237, "protein_name": "Protocadherin-9", "gene_name": "PCDH9", "organism": "Human", "refseq_name": "protocadherin-9 isoform 3 precursor", "refseq_ac": "NP_001305301", "gene_names_uniprotkb": "PCDH9", "gene_names_refseq": "PCDH9", "protein_names_uniprotkb": "Protocadherin-9", "protein_names_refseq": "cadherin superfamily protein VR4-11; protocadherin-9 isoform 3 precursor", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5101)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19913121;24190977;24715725;28467828;28791409;28990594;29391424;29557506;31059116;32502341;32983136;33968037;35051231;35084653;35561310;37074911;38927638", "class_list": "", "function": "COP1 Acts as a Ubiquitin Ligase for PCDH9 Ubiquitination and Degradation in Human Glioma. Erratum:[Mol Neurobiol. 2022 Jul;59(7):4647. doi: 10.1007/s12035-022-02865-9. PMID: 35579848], [RefSeq, PubMed]; Convergent lines of evidence suggest that PCDH9 is likely a novel risk gene for MDD., [RefSeq, PubMed]; Expression of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) Candidate Genes EDA2R, PCDH9, and TRAF7 in Normal Human Kidney Development and CAKUT. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PCDH9 acts as a potential tumor suppressor gene, and that the loss of PCDH9 expression appears be a driver in a significant fraction of hepatocarcinogenesis cases., [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012]., [RefSeq]; This review discusses the role and potential use as biomarkers of semaphorin 3A (SEMA3A), protocadherin 9 (PCDH9), and S100 calcium binding protein A3 (S100A3) in carcinogenesis and chemoresistance of various tumors, including ovarian cancer., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 12, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 10, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 12, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 12, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 82, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 22, "disease_count": 2, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A2A6U1;Q5VT83;Q7Z3U0;Q8N3K7", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0097060 synaptic membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0030900 forebrain development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9HC56-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2E7-1", "uniprot_id": "PCD10_HUMAN", "mass": 112936.0, "length": 1040, "protein_name": "Protocadherin-10", "gene_name": "PCDH10", "organism": "Human", "refseq_name": "protocadherin-10 isoform 2 precursor", "refseq_ac": "NP_065866", "gene_names_uniprotkb": "PCDH10; KIAA1400", "gene_names_refseq": "OL-PCDH; PCDH10", "protein_names_uniprotkb": "Protocadherin-10", "protein_names_refseq": "protocadherin-10 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:57575)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11230163;11549318;32938616;33527791;33592498;34087483;34357683;35051231;36010968;36538983;37058252;37147733;39048821", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Western equine encephalitis virus., [UniProtKB, PubMed]; E3 ubiquitin ligase RNF180 prevents excessive PCDH10 methylation to suppress the proliferation and metastasis of gastric cancer cells by promoting ubiquitination of DNMT1. Publication Status: Online-Only, [RefSeq, PubMed]; HOTAIR Induces Methylation of PCDH10, a Tumor Suppressor Gene, by Regulating DNMT1 and Sponging with miR-148b in Gastric Adenocarcinoma., [RefSeq, PubMed]; Miz1 promotes KRAS-driven lung tumorigenesis by repressing the protocadherin Pcdh10., [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein., [UniProtKB]; Shifts in receptors during submergence of an encephalitic arbovirus., [RefSeq, PubMed]; The role of Pcdh10 in neurological disease and cancer. Review article, [RefSeq, PubMed]; This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]., [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": 3, "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": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 80, "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": "Q4W5F6;Q96SF0", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9P2E7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UKK3-1", "uniprot_id": "PARP4_HUMAN", "mass": 192595.0, "length": 1724, "protein_name": "Protein mono-ADP-ribosyltransferase PARP4", "gene_name": "PARP4", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase PARP4", "refseq_ac": "NP_006428", "gene_names_uniprotkb": "PARP4; ADPRTL1; KIAA0177; PARPL", "gene_names_refseq": "ADPRTL1; ARTD4; PARP-4; PARP4; PARPL; PH5P; VAULT3; VPARP; VWA5C; p193", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase PARP4; 193 kDa vault protein; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 4; ARTD4; PARP-4; PARP-related/IalphaI-related H5/proline-rich; PH5P; Poly [ADP-ribose] polymerase 4; VPARP; Vault poly(ADP-ribose) polymerase", "protein_names_refseq": "193 kDa vault protein; ADP-ribosyltransferase (NAD+; ADP-ribosyltransferase diphtheria toxin-like 4; H5 proline-rich; I-alpha-I-related; PARP-related/IalphaI-related H5/proline-rich; PARP-related; poly (ADP-ribose) polymerase)-like 1; poly [ADP-ribose] polymerase 4; poly(ADP-ribose) synthetase; poly(ADP-ribosyl)transferase-like 1; protein mono-ADP-ribosyltransferase PARP4; vault poly(ADP-ribose) polymerase; vault protein, 193-kDa; von Willebrand factor A domain containing 5C", "tax_id": 9606, "disease": "", "pathway": " (hsa:143); (R-HSA-196807); (R-HSA-9683610); (R-HSA-9694631)", "pathway_count": 4, "publication_count": 188, "publication_id_list": "10100603;10331643;10477748;10551828;10613898;10644454;11248244;11466336;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15169895;15381699;15674325;15848177;16103198;16118205;1637327;16690024;17402747;17604275;17641676;17868694;17914902;18411268;18669648;18707149;19106108;19531469;20068231;20106667;20388704;2129526;21504897;21699903;21933152;21994945;22424782;22544926;22645359;22701565;22822066;23186163;23212377;23230272;23481700;24129315;24275569;24366607;24714562;24715725;24717514;24847004;25043379;25418920;25502872;25531177;25576301;25645385;25802875;25880248;26154972;26375851;26598975;26728094;26758079;26992070;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28446606;28467828;28514659;28657654;28832583;28834231;28904123;29199039;29237092;29242379;29351928;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29930882;30059200;30315122;30410026;30429286;30484775;30524438;30779550;31092671;31217245;31492838;31844290;32029454;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32637943;32645325;32723359;32817937;32877642;32897882;32906142;32938616;32983136;33087354;33123756;33141586;33248025;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;33997890;34029587;34087483;34093574;34171305;34185709;34211107;34357683;34405274;34509645;34593624;34725712;34932366;35051231;35132862;35154160;35254053;35318648;35513511;35561310;35580925;35627777;36010968;36215666;36241641;36284347;37013346;37217939;37938771;37971310;38665916;39034402;39531497;40691181;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "Identification of a novel PARP4 gene promoter CpG locus associated with cisplatin chemoresistance., [RefSeq, PubMed]; Modification Effect of PARP4 and ERCC1 Gene Polymorphisms on the Relationship between Particulate Matter Exposure and Fasting Glucose Level. Publication Status: Online-Only, [RefSeq, PubMed]; Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins (PubMed:25043379). Component of the vault particle, which is a massive ribonucleoprotein complex that may play a role in cargo transport and signal transduction (PubMed:40691181)., [UniProtKB, PubMed, PubMed]; PARP4 interacts with hnRNPM to regulate splicing during lung cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Structural and biochemical analysis of the PARP1-homology region of PARP4/vault PARP., [RefSeq, PubMed]; This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [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": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 57, "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": "O75903;Q14682;Q5QNZ9;Q9H1M6", "ec_number_list": "2.4.2.-;2.4.2.30", "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0003677 DNA binding;GO:0019899 enzyme binding;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0036211 protein modification process;GO:0006281 DNA repair;GO:0006954 inflammatory response;GO:0015031 protein transport;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "Q9UKK3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UN66-1", "uniprot_id": "PCDB8_HUMAN", "mass": 87591.0, "length": 801, "protein_name": "Protocadherin beta-8", "gene_name": "PCDHB8", "organism": "Human", "refseq_name": "protocadherin beta-8 precursor", "refseq_ac": "NP_061993", "gene_names_uniprotkb": "PCDHB8; PCDH3I", "gene_names_refseq": "PCDH-BETA8; PCDH3I; PCDHB8", "protein_names_uniprotkb": "Protocadherin beta-8; PCDH-beta-8; Protocadherin-3I", "protein_names_refseq": "protocadherin beta-8 precursor; protocadherin-3i", "tax_id": 9606, "disease": "", "pathway": " (hsa:56128)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10380929;11322959;25645385;29741879;30779550;31154438;31848261;32350084;32387766;32938616;33592498;33968037;35051231;35251023", "class_list": "", "function": "Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB, UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 77, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B9EGV1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9UN66-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UN67-1", "uniprot_id": "PCDBA_HUMAN", "mass": 87621.0, "length": 800, "protein_name": "Protocadherin beta-10", "gene_name": "PCDHB10", "organism": "Human", "refseq_name": "protocadherin beta-10 precursor", "refseq_ac": "NP_061753", "gene_names_uniprotkb": "PCDHB10; PRO4352", "gene_names_refseq": "PCDH-BETA10; PCDHB10; PCHB10", "protein_names_uniprotkb": "Protocadherin beta-10; PCDH-beta-10", "protein_names_refseq": "PCDH-beta-10; protocadherin beta-10 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56126)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10380929;11322959;12975309;15340161;27543614;29557506;29741879;29786170;32357974;33968037;34357683;35051231;36010968", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 52, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q96T99", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9UN67-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UN70-1", "uniprot_id": "PCDGK_HUMAN", "mass": 101077.0, "length": 934, "protein_name": "Protocadherin gamma-C3", "gene_name": "PCDHGC3", "organism": "Human", "refseq_name": "protocadherin gamma-C3 isoform 1 precursor", "refseq_ac": "NP_002579", "gene_names_uniprotkb": "PCDHGC3; PCDH2", "gene_names_refseq": "PC43; PCDH-GAMMA-C3; PCDH2; PCDHGC3", "protein_names_uniprotkb": "Protocadherin gamma-C3; PC-43; PCDH-gamma-C3; Protocadherin-2; Protocadherin-43", "protein_names_refseq": "cadherin-like 2; protocadherin 43; protocadherin gamma-C3 isoform 1 precursor; protocadherin gamma-C3; protocadherin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5098)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;10380929;11237011;16751190;19664994;22249255;23090970;23481700;24190977;24715725;25576301;25645385;26154972;27846572;27920218;28467828;28832583;29242379;29314611;29485866;29508533;29557506;29632046;29786170;30315122;30429286;31154438;31216007;31844290;31848261;31937595;31998317;32157095;32350084;32387766;32488085;32502341;32938616;33043033;33141586;33298915;33592498;33912179;33936100;33968037;34087483;34211107;34357683;34509645;34932366;35051231;35154160;35318648;35561310;35580925;35897674;36010968;36581221;37074911;37938771;38253038;8508762;9360932", "class_list": "", "function": "ADAM10 is the protease responsible for constitutive and regulated Pcdh gamma shedding events that modulate the cell adhesion role of Pcdh gamma., [RefSeq, PubMed]; Our data provide a map of the DNA methylome episignature specific to an SDHB-mutated cancer and establish PCDHGC3 as a putative suppressor gene, [RefSeq, PubMed]; Our data suggest that the PCDH LRES is an important tumour suppressor locus in colorectal cancer, and that PCDHGC3 may be a strong marker and driver for the adenoma-carcinoma transition., [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; Protocadherin Gamma C3 (PCDHGC3) Is Strongly Expressed in Glioblastoma and Its High Expression Is Associated with Longer Progression-Free Survival of Patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "O60622;Q08192;Q9Y5C4", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9UN70-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UN71-1", "uniprot_id": "PCDGG_HUMAN", "mass": 99927.0, "length": 923, "protein_name": "Protocadherin gamma-B4", "gene_name": "PCDHGB4", "organism": "Human", "refseq_name": "protocadherin gamma-B4 isoform 1 precursor", "refseq_ac": "NP_003727", "gene_names_uniprotkb": "PCDHGB4; CDH20; FIB2", "gene_names_refseq": "CDH20; FIB2; PCDH-GAMMA-B4; PCDHGB4", "protein_names_uniprotkb": "Protocadherin gamma-B4; Cadherin-20; Fibroblast cadherin-2; PCDH-gamma-B4", "protein_names_refseq": "cadherin 20; fibroblast cadherin FIB2; fibroblast cadherin-2; protocadherin gamma-B4 isoform 1 precursor; protocadherin gamma-B4", "tax_id": 9606, "disease": "", "pathway": " (hsa:8641)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1101/2023.09.13.557529;10380929;24190977;28832583;29242379;29741879;31154438;31530632;32350084;33912179;35051231;35154160;39894887;9199196", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O15099;Q2M267;Q9UN64", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9UN71-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UN73-1", "uniprot_id": "PCDA6_HUMAN", "mass": 102716.0, "length": 950, "protein_name": "Protocadherin alpha-6", "gene_name": "PCDHA6", "organism": "Human", "refseq_name": "protocadherin alpha-6 isoform 1 precursor", "refseq_ac": "NP_061732", "gene_names_uniprotkb": "PCDHA6; CNRS2", "gene_names_refseq": "CNR2; CNRN2; CNRS2; CRNR2; PCDH-ALPHA6; PCDHA6", "protein_names_uniprotkb": "Protocadherin alpha-6; PCDH-alpha-6", "protein_names_refseq": "KIAA0345-like 8; PCDH-alpha-6; protocadherin alpha-6 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56142)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10380929;23090970;24190977;29557506;32387766;32938616;33968037;34087483;35051231;35580925;39894887", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 66, "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": "O75283;Q9NRT8", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9UN73-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5B6-1", "uniprot_id": "PAXB1_HUMAN", "mass": 104804.0, "length": 917, "protein_name": "PAX3- and PAX7-binding protein 1", "gene_name": "PAXBP1", "organism": "Human", "refseq_name": "PAX3- and PAX7-binding protein 1 isoform 2", "refseq_ac": "NP_037461", "gene_names_uniprotkb": "PAXBP1; C21orf66; GCFC1; GCFC", "gene_names_refseq": "BM020; C21orf66; FSAP105; GCFC1; GCFC; PAXBP1", "protein_names_uniprotkb": "PAX3- and PAX7-binding protein 1; GC-rich sequence DNA-binding factor 1", "protein_names_refseq": "GC-rich sequence DNA-binding factor 1; GC-rich sequence DNA-binding factor candidate; PAX3- and PAX7-binding protein 1 isoform 2; functional spliceosome-associated protein 105", "tax_id": 9606, "disease": "", "pathway": " (hsa:94104)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10773462;11237011;11707072;15302935;17081983;18318008;18452278;18669648;18691976;19413330;19608861;19651622;19690332;19691289;20068231;21406692;23186163;24275569;25114211;25218447;25505266;25576301;25892735;26992070;27846572;28218747;28228285;28542722;28834231;28904123;29393594;29493099;29632046;29769354;29786170;30315122;30379171;31844290;31848261;31998317;32161166;32897882;33298915;33392160;33717175;34019948;34509645;34561969;34932366;35051231;36010968;36241641;36581221;40596516;40914422", "class_list": "", "function": "A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia has been reported., [RefSeq, PubMed]; Adapter protein linking the transcription factors PAX3 and PAX7 to the histone methylation machinery and involved in myogenesis. Associates with a histone methyltransferase complex that specifically mediates dimethylation and trimethylation of 'Lys-4' of histone H3. Mediates the recruitment of that complex to the transcription factors PAX3 and PAX7 on chromatin to regulate the expression of genes involved in muscle progenitor cells proliferation including ID3 and CDC20., [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": 15, "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": "D3DSE7;Q96DU8;Q9NYQ0", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:1990226 histone methyltransferase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007517 muscle organ development;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9Y5B6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5F3-1", "uniprot_id": "PCDB1_HUMAN", "mass": 90491.0, "length": 818, "protein_name": "Protocadherin beta-1", "gene_name": "PCDHB1", "organism": "Human", "refseq_name": "protocadherin beta-1 precursor", "refseq_ac": "NP_037472", "gene_names_uniprotkb": "PCDHB1", "gene_names_refseq": "PCDH-BETA1; PCDHB1", "protein_names_uniprotkb": "Protocadherin beta-1; PCDH-beta-1", "protein_names_refseq": "PCDH-beta-1; protocadherin beta-1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:29930)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10380929;29557506;31530632;32938616;33968037;34087483;35051231;35580925", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "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": "Q2M257", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9Y5F3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5F7-1", "uniprot_id": "PCDGL_HUMAN", "mass": 101214.0, "length": 938, "protein_name": "Protocadherin gamma-C4", "gene_name": "PCDHGC4", "organism": "Human", "refseq_name": "protocadherin gamma-C4 isoform 1 precursor", "refseq_ac": "NP_061751", "gene_names_uniprotkb": "PCDHGC4", "gene_names_refseq": "NEDGS; PCDH-GAMMA-C4; PCDHGC4", "protein_names_uniprotkb": "Protocadherin gamma-C4; PCDH-gamma-C4", "protein_names_refseq": "protocadherin gamma-C4 isoform 1 precursor; protocadherin gamma-C4", "tax_id": 9606, "disease": "neurodevelopmental disorder with poor growth and skeletal anomalies (MONDO:MONDO:0859252)", "pathway": " (hsa:56098)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10380929;11237011;23481700;29557506;31154438;31844290;32350084;34244665;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "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": "Q495T2;Q9Y5C3", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0050808 synapse organization;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9Y5F7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5F9-1", "uniprot_id": "PCDGI_HUMAN", "mass": 101043.0, "length": 930, "protein_name": "Protocadherin gamma-B6", "gene_name": "PCDHGB6", "organism": "Human", "refseq_name": "protocadherin gamma-B6 isoform 1 precursor", "refseq_ac": "NP_061749", "gene_names_uniprotkb": "PCDHGB6", "gene_names_refseq": "PCDH-GAMMA-B6; PCDHGB6", "protein_names_uniprotkb": "Protocadherin gamma-B6; PCDH-gamma-B6", "protein_names_refseq": "protocadherin gamma-B6 isoform 1 precursor; protocadherin gamma-B6", "tax_id": 9606, "disease": "", "pathway": " (hsa:56100)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10380929;24081945;25418920;27485611;30429286;31848261;32502341;33592498;33968037;35051231", "class_list": "", "function": "Hypermethylation of HIST1H4F, PCDHGB6, NPBWR1, ALX1, and HOXA9 was significantly associated with shorter survival in stage 1 Non-small-cell lung cancer, [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; Promoter methylation found in 41.4% of lung cancer patients and in 1.3% of healthy individuals, [RefSeq, PubMed]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "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": "Q9Y5C5", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9Y5F9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5G0-1", "uniprot_id": "PCDGH_HUMAN", "mass": 99875.0, "length": 923, "protein_name": "Protocadherin gamma-B5", "gene_name": "PCDHGB5", "organism": "Human", "refseq_name": "protocadherin gamma-B5 isoform 1 precursor", "refseq_ac": "NP_061748", "gene_names_uniprotkb": "PCDHGB5", "gene_names_refseq": "PCDH-GAMMA-B5; PCDHGB5", "protein_names_uniprotkb": "Protocadherin gamma-B5; PCDH-gamma-B5", "protein_names_refseq": "protocadherin gamma-B5 isoform 1 precursor; protocadherin gamma-B5", "tax_id": 9606, "disease": "", "pathway": " (hsa:56101)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10380929;17081983;18491316;21654843;24190977;29242379;29557506;29741879;29786170;30429286;31844290;31848261;32157095;32350084;32387766;32938616;33968037;35051231;35251023;37217939", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q52LK8;Q9Y5C6", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9Y5G0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5G5-1", "uniprot_id": "PCDG8_HUMAN", "mass": 101480.0, "length": 932, "protein_name": "Protocadherin gamma-A8", "gene_name": "PCDHGA8", "organism": "Human", "refseq_name": "protocadherin gamma-A8 isoform 2 precursor", "refseq_ac": "NP_054723", "gene_names_uniprotkb": "PCDHGA8; KIAA0327", "gene_names_refseq": "PCDH-GAMMA-A8; PCDHGA8", "protein_names_uniprotkb": "Protocadherin gamma-A8; PCDH-gamma-A8", "protein_names_refseq": "protocadherin gamma-A8 isoform 2 precursor; protocadherin gamma-A8", "tax_id": 9606, "disease": "", "pathway": " (hsa:9708)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "10.1101/2023.09.13.557529;10380929;32387766;32983136;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 58, "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": "A7MCZ4;O15039", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9Y5G5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5G6-1", "uniprot_id": "PCDG7_HUMAN", "mass": 101722.0, "length": 932, "protein_name": "Protocadherin gamma-A7", "gene_name": "PCDHGA7", "organism": "Human", "refseq_name": "protocadherin gamma-A7 isoform 1 precursor", "refseq_ac": "NP_061743", "gene_names_uniprotkb": "PCDHGA7", "gene_names_refseq": "PCDH-GAMMA-A7; PCDHGA7", "protein_names_uniprotkb": "Protocadherin gamma-A7; PCDH-gamma-A7", "protein_names_refseq": "protocadherin gamma-A7 isoform 1 precursor; protocadherin gamma-A7", "tax_id": 9606, "disease": "", "pathway": " (hsa:56108)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1101/2023.09.13.557529;10380929;24190977;29557506;29786170;30121367;31154438;32350084;32897882;33592498;33691108;35051231;35580925;36010968", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]; This study demonstrates that PCDHGA7 is down-regulated in colorectal cancer, and its expression level is correlated with clinical outcomes in patients with wild-type KRAS, [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": 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": 54, "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": "B2RN87;Q9Y5D0", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9Y5G6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5G7-1", "uniprot_id": "PCDG6_HUMAN", "mass": 100871.0, "length": 932, "protein_name": "Protocadherin gamma-A6", "gene_name": "PCDHGA6", "organism": "Human", "refseq_name": "protocadherin gamma-A6 isoform 1 precursor", "refseq_ac": "NP_061742", "gene_names_uniprotkb": "PCDHGA6", "gene_names_refseq": "PCDH-GAMMA-A6; PCDHGA6", "protein_names_uniprotkb": "Protocadherin gamma-A6; PCDH-gamma-A6", "protein_names_refseq": "protocadherin gamma-A6 isoform 1 precursor; protocadherin gamma-A6", "tax_id": 9606, "disease": "", "pathway": " (hsa:56109)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10380929;26154972;28904123;29557506;29786170;30115740;30429286;31844290;32387766;32502341;33592498;33912179;34171305;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 73, "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": "A6H8K7;B2RN55;Q9Y5D1", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9Y5G7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5G8-1", "uniprot_id": "PCDG5_HUMAN", "mass": 100935.0, "length": 931, "protein_name": "Protocadherin gamma-A5", "gene_name": "PCDHGA5", "organism": "Human", "refseq_name": "protocadherin gamma-A5 isoform 1 precursor", "refseq_ac": "NP_061741", "gene_names_uniprotkb": "PCDHGA5", "gene_names_refseq": "CDH-GAMMA-A5; ME3; PCDH-GAMMA-A5; PCDHGA5", "protein_names_uniprotkb": "Protocadherin gamma-A5; PCDH-gamma-A5", "protein_names_refseq": "cadherin ME3; protocadherin gamma-A5 isoform 1 precursor; protocadherin gamma-A5", "tax_id": 9606, "disease": "", "pathway": " (hsa:56110)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10380929;20112406;25576301;32938616;33968037;35051231;36010968", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 57, "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": "Q2M3F5;Q9Y5D2", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9Y5G8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5G9-1", "uniprot_id": "PCDG4_HUMAN", "mass": 103968.0, "length": 962, "protein_name": "Protocadherin gamma-A4", "gene_name": "PCDHGA4", "organism": "Human", "refseq_name": "protocadherin gamma-A4 isoform 1 precursor", "refseq_ac": "NP_061740", "gene_names_uniprotkb": "PCDHGA4", "gene_names_refseq": "PCDH-GAMMA-A4; PCDHGA4", "protein_names_uniprotkb": "Protocadherin gamma-A4; PCDH-gamma-A4", "protein_names_refseq": "protocadherin gamma-A4 isoform 1 precursor; protocadherin gamma-A4", "tax_id": 9606, "disease": "", "pathway": " (hsa:56111)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10380929;29557506;32157095;32938616;33298915;33592498;33912179;33968037;34357683;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "A0A087WT05;A0A087WTI2;Q9Y5D3", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9Y5G9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5H0-1", "uniprot_id": "PCDG3_HUMAN", "mass": 100971.0, "length": 932, "protein_name": "Protocadherin gamma-A3", "gene_name": "PCDHGA3", "organism": "Human", "refseq_name": "protocadherin gamma-A3 isoform 1 precursor", "refseq_ac": "NP_061739", "gene_names_uniprotkb": "PCDHGA3", "gene_names_refseq": "PCDH-GAMMA-A3; PCDHGA3", "protein_names_uniprotkb": "Protocadherin gamma-A3; PCDH-gamma-A3", "protein_names_refseq": "protocadherin gamma-A3 isoform 1 precursor; protocadherin gamma-A3", "tax_id": 9606, "disease": "", "pathway": " (hsa:56112)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10380929;11237011;26608278;27472518;27748813;29351928;29557506;30136078;31611695;33592498;33968037;34509645;35051231;36010968", "class_list": "", "function": "Altered PCDHGA3 gene expression was strongly associated with reduced stroke volume and ventricular dysfunction in ICM, suggesting a relevant role in hemodynamic perturbations and cardiac performance for this unexplored protocadherin Publication Status: Online-Only, [RefSeq, PubMed]; Deletions within this VCD region that disrupt the association altered trafficking of Pcdh-gammaA3 in the endolysosomal system. Publication Status: Online-Only, [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; Results indicate that DNA methylation at CpG sites in the promoter region of PCDHGA3 is associated with biological age., [RefSeq, PubMed]; The results of the present study indicated that PCDHGA3 was expressed in follicular lymphoma(FL) irrespective of BCL2 status and grading and was associated with cell proliferation. Further studies involving molecular genetic analyses are required to elucidate the mechanisms underlying the activity of PCDHGA3 in FL., [RefSeq, PubMed]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 60, "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": "Q9Y5D4", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9Y5H0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5H3-1", "uniprot_id": "PCDGA_HUMAN", "mass": 101447.0, "length": 936, "protein_name": "Protocadherin gamma-A10", "gene_name": "PCDHGA10", "organism": "Human", "refseq_name": "protocadherin gamma-A10 isoform 1 precursor", "refseq_ac": "NP_061736", "gene_names_uniprotkb": "PCDHGA10", "gene_names_refseq": "PCDH-GAMMA-A10; PCDHGA10", "protein_names_uniprotkb": "Protocadherin gamma-A10; PCDH-gamma-A10", "protein_names_refseq": "protocadherin gamma-A10 isoform 1 precursor; protocadherin gamma-A10", "tax_id": 9606, "disease": "", "pathway": " (hsa:56106)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10380929;18077418;25502872;26992070;28940097;29288388;29557506;30429286;32350084;32387766;33392160;33956893;34357683;34509645;35051231;35154160", "class_list": "", "function": "Identification of a genetic variant underlying familial cases of recurrent benign paroxysmal positional vertigo. Publication Status: Online-Only, [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "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": "Q9Y5E0", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9Y5H3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5H4-1", "uniprot_id": "PCDG1_HUMAN", "mass": 101226.0, "length": 931, "protein_name": "Protocadherin gamma-A1", "gene_name": "PCDHGA1", "organism": "Human", "refseq_name": "protocadherin gamma-A1 isoform 1 precursor", "refseq_ac": "NP_061735", "gene_names_uniprotkb": "PCDHGA1", "gene_names_refseq": "PCDH-GAMMA-A1; PCDHGA1", "protein_names_uniprotkb": "Protocadherin gamma-A1; PCDH-gamma-A1", "protein_names_refseq": "protocadherin gamma-A1 isoform 1 precursor; protocadherin gamma-A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56114)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10380929;19664994;26992070;29393594;32157095;33592498;33968037", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 73, "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": "Q2M273;Q9Y5D6", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9Y5H4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5H5-1", "uniprot_id": "PCDA9_HUMAN", "mass": 102402.0, "length": 950, "protein_name": "Protocadherin alpha-9", "gene_name": "PCDHA9", "organism": "Human", "refseq_name": "protocadherin alpha-9 isoform 2 precursor", "refseq_ac": "NP_054724", "gene_names_uniprotkb": "PCDHA9; KIAA0345", "gene_names_refseq": "PCDH-ALPHA9; PCDHA9", "protein_names_uniprotkb": "Protocadherin alpha-9; PCDH-alpha-9", "protein_names_refseq": "KIAA0345-like 5; PCDH-alpha-9; protocadherin alpha-9 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:9752)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10380929;18991276;25802875;25892735;29477871;31154438", "class_list": "", "function": "PCDHAlpha9 is potentially related to Hirschsprung's disease and the clustered protocadherins (Pcdhs) may involve in the enteric nervous system (ENS) ontogeny., [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 61, "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": "O15053;Q2M3S5", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9Y5H5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5H6-1", "uniprot_id": "PCDA8_HUMAN", "mass": 103051.0, "length": 950, "protein_name": "Protocadherin alpha-8", "gene_name": "PCDHA8", "organism": "Human", "refseq_name": "protocadherin alpha-8 isoform 1 precursor", "refseq_ac": "NP_061734", "gene_names_uniprotkb": "PCDHA8", "gene_names_refseq": "PCDH-ALPHA8; PCDHA8", "protein_names_uniprotkb": "Protocadherin alpha-8; PCDH-alpha-8", "protein_names_refseq": "KIAA0345-like 6; PCDH-alpha-8; protocadherin alpha-8 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56140)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "10380929;33537174;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 75, "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": "B9EGT7;O75281", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9Y5H6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5I1-1", "uniprot_id": "PCDAB_HUMAN", "mass": 103298.0, "length": 949, "protein_name": "Protocadherin alpha-11", "gene_name": "PCDHA11", "organism": "Human", "refseq_name": "protocadherin alpha-11 isoform 1 precursor", "refseq_ac": "NP_061725", "gene_names_uniprotkb": "PCDHA11; CNRS7", "gene_names_refseq": "CNR7; CNRN7; CNRS7; CRNR7; PCDH-ALPHA11; PCDHA11", "protein_names_uniprotkb": "Protocadherin alpha-11; PCDH-alpha-11", "protein_names_refseq": "KIAA0345-like 3; protocadherin alpha-11 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56138)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10.1101/2023.09.13.557529;10380929;11237011;24715725;29632711;31848261;32983136;35051231;35580925", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 68, "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": "B2RN58;O75279", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9Y5I1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5I2-1", "uniprot_id": "PCDAA_HUMAN", "mass": 102875.0, "length": 948, "protein_name": "Protocadherin alpha-10", "gene_name": "PCDHA10", "organism": "Human", "refseq_name": "protocadherin alpha-10 isoform 1 precursor", "refseq_ac": "NP_061724", "gene_names_uniprotkb": "PCDHA10; CNRS8", "gene_names_refseq": "CNR8; CNRN8; CNRS8; CRNR8; PCDH-ALPHA10; PCDHA10", "protein_names_uniprotkb": "Protocadherin alpha-10; PCDH-alpha-10", "protein_names_refseq": "KIAA0345-like 4; PCDH-alpha-10; ortholog to mouse CNR8; protocadherin alpha-10 isoform 1 precursor", "tax_id": 9606, "disease": "sporadic amyotrophic lateral sclerosis (Disease Ontology:DOID:0080917)", "pathway": " (hsa:56139)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;10380929;11237011;30429286;32387766;35051231;37074911", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 62, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A1L493;O75280;Q9NRU2", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0044291 cell-cell contact zone", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9Y5I2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5I3-1", "uniprot_id": "PCDA1_HUMAN", "mass": 102952.0, "length": 950, "protein_name": "Protocadherin alpha-1", "gene_name": "PCDHA1", "organism": "Human", "refseq_name": "protocadherin alpha-1 isoform 1 precursor", "refseq_ac": "NP_061723", "gene_names_uniprotkb": "PCDHA1", "gene_names_refseq": "PCDH-ALPHA1; PCDHA1", "protein_names_uniprotkb": "Protocadherin alpha-1; PCDH-alpha-1", "protein_names_refseq": "KIAA0345-like 13; PCDH-alpha-1; protocadherin alpha-1 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56147)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10380929;18496207;23204437;23481700;27600516;28218747;29242379;29437277;29557506;29632711;31844290;32157095;32502341;35051231;35580925;36858841", "class_list": "", "function": "A polymorphic copy number variation in this locus, a 16.7-kb deletion affecting PCDH-alpha exons 8-10 (alpha 8-alpha 10 Delta), was analyzed in this study as a potential candidate variant in schizophrenia and bipolar disorder. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; CTCF/cohesin-mediated DNA looping is required for protocadherin alpha promoter choice, [RefSeq, PubMed]; PCDHA1 High Expression is Associated With Poor Prognosis and Correlated With Immune Cell Infiltration in Breast Cancer., [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 74, "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": "O75288;Q9NRT7", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9Y5I3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6F1-1", "uniprot_id": "PARP3_HUMAN", "mass": 60089.0, "length": 533, "protein_name": "Protein mono-ADP-ribosyltransferase PARP3", "gene_name": "PARP3", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase PARP3 isoform a", "refseq_ac": "NP_005476", "gene_names_uniprotkb": "PARP3; ADPRT3; ADPRTL3", "gene_names_refseq": "ADPRT3; ADPRTL2; ADPRTL3; ARTD3; IRT1; PADPRT-3; PARP3", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase PARP3; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 3; ADPRT-3; ARTD3; DNA ADP-ribosyltransferase PARP3; IRT1; NAD(+) ADP-ribosyltransferase 3; PARP-3; Poly [ADP-ribose] polymerase 3; Poly[ADP-ribose] synthase 3; hPARP-3; pADPRT-3", "protein_names_refseq": "ADP-ribosyltransferase (NAD+; ADP-ribosyltransferase diphtheria toxin-like 3; ADPRT-3; DNA ADP-ribosyltransferase PARP3; NAD(+) ADP-ribosyltransferase 3; NAD+ ADP-ribosyltransferase 3; poly (ADP-ribose) polymerase)-like 2; poly (ADP-ribose) polymerase)-like 3; poly [ADP-ribose] polymerase 3; poly(ADP-ribose) synthetase-3; poly[ADP-ribose] synthase 3; poly[ADP-ribose] synthetase 3; protein mono-ADP-ribosyltransferase PARP3 isoform a; protein mono-ADP-ribosyltransferase PARP3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10039)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10329013;11237011;12640039;16924674;17203305;19354255;20064938;20106667;21211721;21270334;23481700;23742272;24188023;24598253;25043379;25548167;25576301;25645385;25886813;26375851;27530147;28228285;28447610;28832583;29242379;29361132;29393594;29493099;29520010;29557506;29632046;29676938;29786170;30039287;30315122;30429286;30524438;31844290;31848261;32157095;32357974;32785980;32897882;32938616;33141586;33537174;33968037;34066057;34185709;34932366;35051231;35154160;35580925;36010968;36215666", "class_list": "", "function": "Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins and plays a key role in the response to DNA damage (PubMed:16924674, PubMed:19354255, PubMed:20064938, PubMed:21211721, PubMed:21270334, PubMed:23742272, PubMed:24598253, PubMed:25043379, PubMed:28447610). Mediates mono-ADP-ribosylation of glutamate, aspartate or lysine residues on target proteins (PubMed:20064938, PubMed:25043379). In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation (PubMed:25043379). Involved in DNA repair by mediating mono-ADP-ribosylation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism, such as histone H2B, XRCC5 and XRCC6 (PubMed:16924674, PubMed:24598253). ADP-ribosylation follows DNA damage and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks (PubMed:16924674, PubMed:21211721, PubMed:21270334). Involved in single-strand break repair by catalyzing mono-ADP-ribosylation of histone H2B on 'Glu-2' (H2BE2ADPr) of nucleosomes containing nicked DNA (PubMed:27530147). Cooperates with the XRCC5-XRCC6 (Ku80-Ku70) heterodimer to limit end-resection thereby promoting accurate NHEJ (PubMed:24598253). Suppresses G-quadruplex (G4) structures in response to DNA damage (PubMed:28447610). Associates with a number of DNA repair factors and is involved in the response to exogenous and endogenous DNA strand breaks (PubMed:16924674, PubMed:21211721, PubMed:21270334). Together with APLF, promotes the retention of the LIG4-XRCC4 complex on chromatin and accelerate DNA ligation during non-homologous end-joining (NHEJ) (PubMed:21211721). May link the DNA damage surveillance network to the mitotic fidelity checkpoint (PubMed:16924674). Acts as a negative regulator of immunoglobulin class switch recombination, probably by controlling the level of AICDA /AID on the chromatin (By similarity). In addition to proteins, also able to ADP-ribosylate DNA: mediates DNA mono-ADP-ribosylation of DNA strand break termini via covalent addition of a single ADP-ribose moiety to a 5'- or 3'-terminal phosphate residues in DNA containing multiple strand breaks (PubMed:29361132, PubMed:29520010)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our results indicated this approach with PARP3 inhibitors and vinorelbine is unique and promising for breast cancer patients with metastases. This combination could significantly increase the survival of breast cancer patients with metastases, [RefSeq, PubMed]; PARP Power: A Structural Perspective on PARP1, PARP2, and PARP3 in DNA Damage Repair and Nucleosome Remodelling. Review article Publication Status: Online-Only, [RefSeq, PubMed]; PARP-3 is a nuclear protein involved in transcriptional silencing and in the cellular response to DNA damage, [RefSeq, PubMed]; Progress and outlook in studying the substrate specificities of PARPs and related enzymes., [RefSeq, PubMed]; The integral roles of PARP3 in DNA damage repair., [RefSeq, PubMed]; The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [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": 1, "reported_mutagensis": 3, "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": "Q8NER9;Q96CG2;Q9UG81", "ec_number_list": "2.4.2.-;2.4.2.30;2.3.1.-;2.3.1.286", "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0003824 catalytic activity;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity;GO:0140294 NAD DNA ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005813 centrosome;GO:0016604 nuclear body;GO:0005814 centriole", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0070213 protein auto-ADP-ribosylation;GO:0000723 telomere maintenance;GO:0032211 negative regulation of telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9Y6F1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49720-1", "uniprot_id": "PSB3_HUMAN", "mass": 22949.0, "length": 205, "protein_name": "Proteasome subunit beta type-3", "gene_name": "PSMB3", "organism": "Human", "refseq_name": "proteasome subunit beta type-3", "refseq_ac": "NP_002786", "gene_names_uniprotkb": "PSMB3", "gene_names_refseq": "HC10-II; PSMB3", "protein_names_uniprotkb": "Proteasome subunit beta type-3; Proteasome chain 13; Proteasome component C10-II; Proteasome subunit beta-3; Proteasome theta chain; beta-3", "protein_names_refseq": "beta-3; epididymis secretory sperm binding protein; proteasome (prosome, macropain) subunit, beta type, 3; proteasome chain 13; proteasome component C10-II; proteasome subunit beta 3; proteasome subunit beta type-3; proteasome theta chain", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5691); (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": 1066, "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. The 26 S proteasome may be involved in trinucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. 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": 2, "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": "P31147;Q0P6J7;Q96E27", "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": 106.9, "record_id": "P49720-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P21108-1", "uniprot_id": "PRPS3_HUMAN", "mass": 34839.0, "length": 318, "protein_name": "Ribose-phosphate pyrophosphokinase 3", "gene_name": "PRPS1L1", "organism": "Human", "refseq_name": "ribose-phosphate pyrophosphokinase 3", "refseq_ac": "NP_787082", "gene_names_uniprotkb": "PRPS1L1; PRPS3; PRPSL", "gene_names_refseq": "PRPS1L1; PRPS3; PRPSL; PRS-III", "protein_names_uniprotkb": "Ribose-phosphate pyrophosphokinase 3; 2.7.6.1; PRPS1-like 1; PRS-III; Phosphoribosyl pyrophosphate synthase 1-like 1; Phosphoribosyl pyrophosphate synthase III", "protein_names_refseq": "PRPS1-like 1; phosphoribosyl pyrophosphate synthase 1-like 1; phosphoribosyl pyrophosphate synthase III; phosphoribosylpyrophosphate synthetase subunit III; ribose-phosphate diphosphokinase catalytic chain III; ribose-phosphate pyrophosphokinase 3; ribose-phosphate pyrophosphokinase III", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease X-linked recessive 5 (Disease Ontology:DOID:0110210); X-linked deafness 1 (Disease Ontology:DOID:0111739)", "pathway": " (hsa:221823); (R-HSA-73843)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;16408927;18669648;2168892;21734401;25576301;27862975;28832583;29242379;29331515;29393594;29557506;29769354;29786170;31217245;31844290;32350084;33043033;33298915;33592498;33912179;34171305;34357683;35051231;38253038;40914422;4328836;9634482", "class_list": "", "function": "Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis., [UniProtKB, UniProtKB, UniProtKB]; Data indicate taht candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified., [RefSeq, PubMed]; This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]., [RefSeq]; Translation initiates from a non-AUG (ACG) start codon., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 19, "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": "Q6P5P6", "ec_number_list": "2.7.6.1", "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0016301 kinase activity;GO:0004749 ribose phosphate diphosphokinase activity", "go_cellular_component": "GO:0002189 ribose phosphate diphosphokinase complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0008584 male gonad development;GO:0009156 ribonucleoside monophosphate biosynthetic process;GO:0006015 5-phosphoribose 1-diphosphate biosynthetic process;GO:0006164 purine nucleotide biosynthetic process;GO:0009165 nucleotide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "P21108-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7RTS3-1", "uniprot_id": "PTF1A_HUMAN", "mass": 34970.0, "length": 328, "protein_name": "Pancreas transcription factor 1 subunit alpha", "gene_name": "PTF1A", "organism": "Human", "refseq_name": "pancreas transcription factor 1 subunit alpha", "refseq_ac": "NP_835455", "gene_names_uniprotkb": "PTF1A; BHLHA29; PTF1P48", "gene_names_refseq": "PACA; PAGEN2; PTF1-p48; PTF1A; bHLHa29; p48", "protein_names_uniprotkb": "Pancreas transcription factor 1 subunit alpha; Class A basic helix-loop-helix protein 29; PTF1-p48; Pancreas-specific transcription factor 1a; bHLH transcription factor p48; bHLHa29; p48 DNA-binding subunit of transcription factor PTF1", "protein_names_refseq": "bHLH transcription factor p48; class A basic helix-loop-helix protein 29; class II bHLH protein PTF1A; exocrine pancreas-specific transcription factor p48; p48 DNA-binding subunit of transcription factor PTF1; pancreas specific transcription factor, 1a; pancreas transcription factor 1 subunit alpha", "tax_id": 9606, "disease": "pancreatic agenesis 2 (Disease Ontology:DOID:0060988); permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome (MONDO:MONDO:0012192)", "pathway": " (hsa:256297); (R-HSA-210747); (R-HSA-9925561)", "pathway_count": 3, "publication_count": 10, "publication_id_list": "10768861;11237011;14516699;15543146;24212882;27697859;30030434;32265295;32893856;33498041", "class_list": "", "function": "Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations., [RefSeq, PubMed]; Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience., [RefSeq, PubMed]; Non-neural progenitor transcription factor Ptf1a alone is sufficient to directly reprogram mouse and human fibroblasts into self-renewable induced neural stem cells capable of differentiating into functional neurons, astrocytes and oligodendrocytes, and improving cognitive dysfunction of Alzheimer's disease mouse models when transplanted Publication Status: Online-Only, [RefSeq, PubMed]; Study describes the wide range of gene control by PTF1A that maintains the specific characteristics of pancreatic acinar cell identity and differentiation. PTF1A controls the pancreatic acinar transcription program by direct action at a thousand genes and in collaboration with other less cell type-restricted factors to ensure acinar cell homeostasis and to suppress other cell-type-specific programs. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates., [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": 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": "Q9HC25", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0046983 protein dimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0061074 regulation of neural retina development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0032502 developmental process", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q7RTS3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1KZ92-1", "uniprot_id": "PXDNL_HUMAN", "mass": 163686.0, "length": 1463, "protein_name": "Probable oxidoreductase PXDNL", "gene_name": "PXDNL", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PXDNL; VPO2", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable oxidoreductase PXDNL; 1.-.-.-; Cardiac peroxidase; Inactive peroxidasin-like protein; PRM1; Polysomal ribonuclease 1; Vascular peroxidase 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:137902)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12923263;18929642;22543864;24253521;24715725;29557506;30418433;31844290;32938616;34561969;34932366;35051231;35580925", "class_list": "", "function": "Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs., [UniProtKB, PubMed]; Probable oxidoreductase (Probable). Lacks peroxidase activity (PubMed:24253521). Inhibits the peroxidase activity of PXDN through its interaction (PubMed:24253521)., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 83, "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": "B5ME43;B6CGZ3;H0YBM9;Q6ZMR2;Q96LH9", "ec_number_list": "", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0046872 metal ion binding;GO:0004519 endonuclease activity;GO:0020037 heme binding;GO:0004601 peroxidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0048731 system development;GO:0006979 response to oxidative stress;GO:0042744 hydrogen peroxide catabolic process;GO:0070831 basement membrane assembly", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A1KZ92-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A1L453-1", "uniprot_id": "PRS38_HUMAN", "mass": 35356.0, "length": 326, "protein_name": "Serine protease 38", "gene_name": "PRSS38", "organism": "Human", "refseq_name": "serine protease 38 isoform 1 precursor", "refseq_ac": "NP_898885", "gene_names_uniprotkb": "PRSS38; MPN2", "gene_names_refseq": "MPN2; PRSS38", "protein_names_uniprotkb": "Serine protease 38; 3.4.21.-; Marapsin-2", "protein_names_refseq": "marapsin 2; protease, serine 38; serine protease 38 isoform 1 precursor; serine protease MPN2", "tax_id": 9606, "disease": "", "pathway": " (hsa:339501)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "12838346;29242379;35051231", "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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q7RTY6", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A1L453-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A5LHX3-1", "uniprot_id": "PSB11_HUMAN", "mass": 32530.0, "length": 300, "protein_name": "Proteasome subunit beta type-11", "gene_name": "PSMB11", "organism": "Human", "refseq_name": "proteasome subunit beta type-11", "refseq_ac": "NP_001093250", "gene_names_uniprotkb": "PSMB11", "gene_names_refseq": "BETA5T; PSMB11", "protein_names_uniprotkb": "Proteasome subunit beta type-11; 3.4.25.1; Proteasome subunit beta-5t", "protein_names_refseq": "proteasome (prosome, macropain) subunit, beta type, 11; proteasome subunit beta 5T; proteasome subunit beta type-11; proteasome subunit beta-5t", "tax_id": 9606, "disease": "proteasome-associated autoinflammatory syndrome 1 (Disease Ontology:DOID:0050553)", "pathway": " (hsa:122706); (R-HSA-9907900)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "10973495;15831487;16251969;16990800;17189198;17540904;17948026;19289856;19490896;20471946;21836487;28263418;28442575;28598414", "class_list": "", "function": "Human beta5t was expressed in approximately 80% of cortical thymic epithelial cells and some cortical dendritic cells, [RefSeq, PubMed]; Proteasome beta5t is expressed in most type B and in some type AB thymomas and is a marker useful in differentiating type B3 thymomas from thymic carcinomas when used in combination with other diagnostic markers., [RefSeq, PubMed]; Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM, Mar 2008]., [RefSeq]; Results suggest a key role for beta5t in generating the MHC class I-restricted CD8(+) T cell repertoire during thymic selection, [RefSeq, PubMed]; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Incorporated instead of PSMB5 or PSMB8, this unit reduces the chymotrypsin-like activity of the proteasome (By similarity). Plays a pivotal role in development of CD8-positive T cells (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "3.4.25.1", "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0008233 peptidase activity;GO:0004298 threonine-type endopeptidase activity", "go_cellular_component": "GO:0019774 proteasome core complex, beta-subunit complex;GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0045061 thymic T cell selection;GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0006508 proteolysis;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A5LHX3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A5PKW4-1", "uniprot_id": "PSD1_HUMAN", "mass": 109543.0, "length": 1024, "protein_name": "PH and SEC7 domain-containing protein 1", "gene_name": "PSD", "organism": "Human", "refseq_name": "PH and SEC7 domain-containing protein 1 isoform 1", "refseq_ac": "NP_001257894", "gene_names_uniprotkb": "PSD; EFA6A; EFA6; KIAA2011; PSD1; TYL", "gene_names_refseq": "EFA6A; EFA6; PSD1; PSD; TYL", "protein_names_uniprotkb": "PH and SEC7 domain-containing protein 1; Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6; Exchange factor for ARF6 A; Exchange factor for ARF6; Pleckstrin homology and SEC7 domain-containing protein 1", "protein_names_refseq": "PH and SEC7 domain-containing protein 1 isoform 1; PH and SEC7 domain-containing protein 1; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6; exchange factor for ARF6 A; pleckstrin homology and SEC7 domain-containing protein 1; pleckstrin-Sec7 domains-containing", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:5662)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;15345747;18452278;23603394;26330566;29242379;29246944;29557506;31844082;31844290;32387766;32983136;33392160;33968037;35051231;37217939;9417912", "class_list": "", "function": "Arf GTPases are likely to be locally activated by EFA6 and in turn targeted to the Flemming body to complete cytokinesis., [RefSeq, PubMed]; EFA6A recruits alpha-actinin 1 (ACTN1) through direct binding. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine nucleotide exchange factor for ARF6 (PubMed:23603394). Induces cytoskeletal remodeling (By similarity)., [UniProtKB, UniProtKB, PubMed]; The C-terminal domain of EFA6A interacts directly with F-actin and assembles F-actin bundles. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 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": 7, "reported_mutagensis": 2, "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": "B1AKX7;D3DR87;Q15673;Q8IVG0", "ec_number_list": "", "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0043197 dendritic spine;GO:0032154 cleavage furrow;GO:0032587 ruffle membrane;GO:0099092 postsynaptic density, intracellular component", "go_biological_process": "GO:0007165 signal transduction;GO:0031175 neuron projection development;GO:0016192 vesicle-mediated transport;GO:0032012 regulation of ARF protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "A5PKW4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NEY8-1", "uniprot_id": "PRXD1_HUMAN", "mass": 18658.0, "length": 169, "protein_name": "Putative prolyl-tRNA synthetase associated domain-containing protein 1", "gene_name": "PRORSD1P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PRORSD1P; NCRNA00117; PRDXDD1P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative prolyl-tRNA synthetase associated domain-containing protein 1; PrdX deacylase domain-containing protein 1; Prolyl-tRNA synthetase associated domain-containing protein 1 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "26992070;28834231;29485866;34932366", "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:0002161 aminoacyl-tRNA deacylase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NEY8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15269-1", "uniprot_id": "PWP2_HUMAN", "mass": 102452.0, "length": 919, "protein_name": "Periodic tryptophan protein 2 homolog", "gene_name": "PWP2", "organism": "Human", "refseq_name": "periodic tryptophan protein 2 homolog", "refseq_ac": "NP_005040", "gene_names_uniprotkb": "PWP2; PWP2H", "gene_names_refseq": "EHOC-17; PWP2H; PWP2; UTP1", "protein_names_uniprotkb": "Periodic tryptophan protein 2 homolog", "protein_names_refseq": "PWP2 periodic tryptophan protein homolog; PWP2, UTPB SSU processome subunit; periodic tryptophan protein 2 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:5822); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;12429849;15199136;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;18452278;18669648;18991276;19007248;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;24366607;24424021;24550520;24714562;24715725;25411247;25418920;25505266;25525153;25645385;25653167;25851604;25892735;25969445;26085946;26154972;26196125;26237581;26728094;26811146;26929215;26992070;27084949;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30484775;30833945;31092671;31154438;31217245;31530632;31848261;32119511;32161166;32357974;32502341;33123756;33141586;33214551;33592498;33717175;33981976;34516797;34725712;36215666;37938771;40596516;40914422;8661145;8893822;8973917;9196060;9205129;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., [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": 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": "B2RAG8;Q96A77", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0034388 Pwp2p-containing subcomplex of 90S preribosome;GO:0005654 nucleoplasm;GO:0005730 nucleolus;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;GO:0000028 ribosomal small subunit assembly", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q15269-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q53SZ7-1", "uniprot_id": "PRR30_HUMAN", "mass": 44690.0, "length": 412, "protein_name": "Proline-rich protein 30", "gene_name": "PRR30", "organism": "Human", "refseq_name": "proline-rich protein 30", "refseq_ac": "NP_848648", "gene_names_uniprotkb": "PRR30; C2orf53", "gene_names_refseq": "C2orf53; PRR30", "protein_names_uniprotkb": "Proline-rich protein 30", "protein_names_refseq": "proline-rich protein 30", "tax_id": 9606, "disease": "", "pathway": " (hsa:339779)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29485866;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86UE2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q53SZ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95997-1", "uniprot_id": "PTTG1_HUMAN", "mass": 22024.0, "length": 202, "protein_name": "Securin", "gene_name": "PTTG1", "organism": "Human", "refseq_name": "securin", "refseq_ac": "NP_001269311", "gene_names_uniprotkb": "PTTG1; EAP1; PTTG; TUTR1", "gene_names_refseq": "EAP1; ECRAR; HPTTG; PTTG1; PTTG; TUTR1", "protein_names_uniprotkb": "Securin; Esp1-associated protein; Pituitary tumor-transforming gene 1 protein; Tumor-transforming protein 1; hPTTG", "protein_names_refseq": "ESP1-associated protein 1; endogenous cardiac regeneration-associated regulator; pituitary tumor-transforming 1; pituitary tumor-transforming gene 1 protein; securin; tumor-transforming protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9232); (R-HSA-174154); (R-HSA-174178); (R-HSA-2467813)", "pathway_count": 4, "publication_count": 72, "publication_id_list": "10022450;10393434;10411507;10580151;10656688;10733526;10781616;10906323;11081627;11158059;11237011;11238996;11371342;11509732;12070128;12194817;12355087;12446569;15014503;15469821;15678131;15737063;16413484;17187060;18485873;18669648;18767875;19651622;19664995;20058876;20068230;20068231;21937724;22885700;24714562;24715725;25469497;25576301;26154972;26992070;27846572;28904123;29493099;29557506;30429286;31844290;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;34433824;35051231;35318648;35768832;37400529;37938771;38069214;38420810;39144144;9811450;9892021", "class_list": "", "function": "Clinical significance and potential regulatory mechanism of overexpression of pituitary tumor-transforming gene transcription factor in bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and validation of tryptophan-related gene signatures to predict prognosis and immunotherapy response in lung adenocarcinoma reveals a critical role for PTTG1. Publication Status: Online-Only, [RefSeq, PubMed]; Multi-Omics Analysis of the Oncogenic Value of Pituitary Tumor-Transforming Gene 1 (PTTG1) in Human Cancers., [RefSeq, PubMed]; Phosphorylated PTTG1 switches its subcellular distribution and promotes beta-catenin stabilization and subsequent transcription activity., [RefSeq, PubMed]; Regulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair. Probably acts by blocking the action of key proteins. During the mitosis, it blocks Separase/ESPL1 function, preventing the proteolysis of the cohesin complex and the subsequent segregation of the chromosomes. At the onset of anaphase, it is ubiquitinated, conducting to its destruction and to the liberation of ESPL1. Its function is however not limited to a blocking activity, since it is required to activate ESPL1. Negatively regulates the transcriptional activity and related apoptosis activity of TP53. The negative regulation of TP53 may explain the strong transforming capability of the protein when it is overexpressed. May also play a role in DNA repair via its interaction with Ku, possibly by connecting DNA damage-response pathways with sister chromatid separation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; SPTBN1 Mediates the Cytoplasmic Constraint of PTTG1, Impairing Its Oncogenic Activity in Human Seminoma. Publication Status: Online-Only, [RefSeq, PubMed]; The encoded protein is a homolog of yeast securin proteins, which prevent separins from promoting sister chromatid separation. It is an anaphase-promoting complex (APC) substrate that associates with a separin until activation of the APC. The gene product has transforming activity in vitro and tumorigenic activity in vivo, and the gene is highly expressed in various tumors. The gene product contains 2 PXXP motifs, which are required for its transforming and tumorigenic activities, as well as for its stimulation of basic fibroblast growth factor expression. It also contains a destruction box (D box) that is required for its degradation by the APC. The acidic C-terminal region of the encoded protein can act as a transactivation domain. The gene product is mainly a cytosolic protein, although it partially localizes in the nucleus. Three 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": 6, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0004869 cysteine-type endopeptidase inhibitor activity;GO:0140677 molecular function activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045143 homologous chromosome segregation;GO:0006281 DNA repair;GO:0007283 spermatogenesis;GO:0051301 cell division;GO:0051276 chromosome organization", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "O95997-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6MZM9-1", "uniprot_id": "PRR27_HUMAN", "mass": 22720.0, "length": 219, "protein_name": "Proline-rich protein 27", "gene_name": "PRR27", "organism": "Human", "refseq_name": "proline-rich protein 27 precursor", "refseq_ac": "NP_999876", "gene_names_uniprotkb": "PRR27; C4orf40", "gene_names_refseq": "C4orf40; PRR27", "protein_names_uniprotkb": "Proline-rich protein 27", "protein_names_refseq": "proline-rich protein 27 precursor; proline-rich protein 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:401137)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "40667337;11237011;31217245;31611695;33981976", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 8, "reported_interactions": 0, "missing_score": 8030, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MXP0;Q6MZR6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6MZM9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O60542-1", "uniprot_id": "PSPN_HUMAN", "mass": 16600.0, "length": 156, "protein_name": "Persephin", "gene_name": "PSPN", "organism": "Human", "refseq_name": "persephin preproprotein", "refseq_ac": "NP_004149", "gene_names_uniprotkb": "PSPN", "gene_names_refseq": "PSPN; PSP", "protein_names_uniprotkb": "Persephin; PSP", "protein_names_refseq": "persephin preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:5623); (R-HSA-419037); (R-HSA-5673001); (R-HSA-8853659)", "pathway_count": 4, "publication_count": 98, "publication_id_list": "10448070;10508167;10869344;10995764;11000521;11002419;11027663;11090077;11116144;11136978;11237011;11237712;11313946;11360177;11390647;11470823;11491658;11546808;11702783;11886862;12032311;12094235;12121613;12242309;12765789;12771945;14506247;14707138;14766744;15044950;15286081;15356145;1545823;15546878;15569713;15829225;16267048;16627759;16684964;1716764;17998941;18059411;18775330;18970938;1898771;19279408;19920141;20350599;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24375483;24897931;24937142;25219551;25781681;26085527;2809592;28778966;31135801;6148751;7665556;7809086;7935463;7972015;8052307;8262246;8394845;8493579;8628282;8631863;8637703;8662982;8663426;8665852;8674117;8710374;8939933;9047384;9192684;9299438;9398268;9407096;9491986;9604935;9764818;9883723;9927426", "class_list": "", "function": "Growth factor that exhibits neurotrophic activity on mesencephalic dopaminergic and motor neurons (PubMed:11116144, PubMed:9491986). Acts by binding to its coreceptor, GFRA4, leading to autophosphorylation and activation of the RET receptor (PubMed:11116144)., [UniProtKB, PubMed, PubMed]; No differences were found in the allelic frequencies of the variants or in the haplotype distribution between Hirschsprung's disease patients & controls, nor to any demographic/clinical parameters within the group of patients. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results identify persephin, a GDNF family member, as a novel ligand for GFRalpha1/RET receptor complex., [RefSeq, PubMed]; Results suggested that PSPN is a possible key regulator of oral squamous cell carcinoma (OSCC) progression via PSPN-RET-mitogen-activated protein kinase activation and that PSPN overexpression may have diagnostic potential for OSCC., [RefSeq, PubMed]; The results obtained suggest the involvement of NTN, PSP, and ART in processes subserving both the organization of this cortical region during development and the functional activity and maintenance of the mature human hippocampal neurons., [RefSeq, PubMed]; This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and 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. This protein may play a role in cell death, and nervous system development and function. Elevated expression of this gene has been observed in oral squamous cell carcinoma. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0005102 signaling receptor 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:0007399 nervous system development;GO:0031175 neuron projection development;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "O60542-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O15172-1", "uniprot_id": "PSPHL_HUMAN", "mass": 7804.0, "length": 72, "protein_name": "Putative phosphoserine phosphatase-like protein", "gene_name": "PSPHP1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PSPHP1; CO9; PSPHL", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative phosphoserine phosphatase-like protein; L-3-phosphoserine-phosphatase homolog", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 9, "publication_id_list": "25576301;27846572;27920218;29393594;29557506;30429286;31154438;33592498;9573387", "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": "Q86U85", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O15172-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P23468-1", "uniprot_id": "PTPRD_HUMAN", "mass": 214760.0, "length": 1912, "protein_name": "Receptor-type tyrosine-protein phosphatase delta", "gene_name": "PTPRD", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase delta isoform 6 precursor", "refseq_ac": "NP_001164496", "gene_names_uniprotkb": "PTPRD", "gene_names_refseq": "HPTPDELTA; HPTPD; HPTP; PTPD; PTPRD; R-PTP-delta; RPTPDELTA", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase delta; 3.1.3.48; Protein-tyrosine phosphatase delta; R-PTP-delta", "protein_names_refseq": "protein tyrosine phosphatase, receptor type, delta polypeptide; rceptor-type tyrosine-protein phosphatase delta; receptor-type tyrosine-protein phosphatase delta isoform 6 precursor", "tax_id": 9606, "disease": "restless legs syndrome (Disease Ontology:DOID:0050425); hypertension (Disease Ontology:DOID:10763); azoospermia (Disease Ontology:DOID:14227); coronary artery disease (Disease Ontology:DOID:3393); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5789); (R-HSA-388844); (R-HSA-8849932)", "pathway_count": 3, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12376545;14759258;15750591;16495444;16630835;16959974;18227064;19252495;19681166;20139422;20600927;21262467;2170109;21940441;22286174;22357843;23345436;25385546;25908590;26154972;26321637;27600516;29557506;30484775;31020640;31844290;32157095;32350084;32387766;32488085;32938616;33968037;34087483;34432728;34509645;34863978;35051231;35154160;35251023;35318648;35580925;35603359;35848503;35982066;36010968;36215666;36241641;36906292;37074911;7569905;7796809;7896816;8601796;9624153", "class_list": "", "function": "An integrative prognostic and immune analysis of PTPRD in cancer., [RefSeq, PubMed]; Can bidirectionally induce pre- and post-synaptic differentiation of neurons by mediating interaction with IL1RAP and IL1RAPL1 trans-synaptically. Involved in pre-synaptic differentiation through interaction with SLITRK2., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Interactions between RPTP-domain1s and RPTP-domain 2s are a common but specific mechanism that is likely to be regulated- domain2s and the wedge structures are crucial determinants of binding specificity, thus regulating cross-talk between RPTPs, [RefSeq, PubMed]; Metastasis suppressor 1 interacts with protein tyrosine phosphatase receptor-delta to regulate adipogenesis., [RefSeq, PubMed]; Methylation-mediated silencing of PTPRD induces pulmonary hypertension by promoting pulmonary arterial smooth muscle cell migration via the PDGFRB/PLCgamma1 axis., [RefSeq, PubMed]; PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas. Publication Status: Online-Only, [RefSeq, PubMed]; Structure-activity studies of PTPRD phosphatase inhibitors identify a 7-cyclopentymethoxy illudalic acid analog candidate for development., [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 252, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 14, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B1ALA0;F5GWT7;Q3KPJ0;Q3KPJ1;Q3KPJ2", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;3.1.3.27;3.2.2.6", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0050839 cell adhesion molecule binding;GO:0005001 transmembrane receptor protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0042734 presynaptic membrane;GO:0098686 hippocampal mossy fiber to CA3 synapse", "go_biological_process": "GO:0099054 presynapse assembly;GO:0007185 cell surface receptor protein tyrosine phosphatase signaling pathway;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0006796 phosphate-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P23468-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P23469-1", "uniprot_id": "PTPRE_HUMAN", "mass": 80642.0, "length": 700, "protein_name": "Receptor-type tyrosine-protein phosphatase epsilon", "gene_name": "PTPRE", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase epsilon isoform 3", "refseq_ac": "NP_001303605", "gene_names_uniprotkb": "PTPRE", "gene_names_refseq": "HPTPE; PTPE; PTPRE; R-PTP-EPSILON", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase epsilon; 3.1.3.48; Protein-tyrosine phosphatase epsilon; R-PTP-epsilon", "protein_names_refseq": "protein tyrosine phosphatase, receptor type, epsilon polypeptide; receptor-type tyrosine-protein phosphatase epsilon isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:5791)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10490839;10980613;11237011;12121439;17016520;19167335;19690332;2170109;25576301;26154972;26992070;27862975;28235043;29493099;29557506;31154438;31217245;31722979;31844290;31848261;32157095;32387766;32488085;32938616;32983136;33043033;33141586;33392160;33936100;33968037;33981976;34211107;34357683;34509645;35051231;35580925;36010968;36284347;36654463;37217939;8610169;8618876;9914474", "class_list": "", "function": "Isoform 1 and isoform 2 act as a negative regulator of FceRI-mediated signal transduction leading to cytokine production and degranulation, most likely by acting at the level of SYK to affect downstream events such as phosphorylation of SLP76 and LAT and mobilization of Ca(2+)., [UniProtKB]; Isoform 1 plays a critical role in signaling transduction pathways and phosphoprotein network topology in red blood cells. May play a role in osteoclast formation and function (By similarity)., [UniProtKB]; Isoform 2 acts as a negative regulator of insulin receptor (IR) signaling in skeletal muscle. Regulates insulin-induced tyrosine phosphorylation of insulin receptor (IR) and insulin receptor substrate 1 (IRS-1), phosphorylation of protein kinase B and glycogen synthase kinase-3 and insulin induced stimulation of glucose uptake (By similarity)., [UniProtKB]; RPTPepsilon promotes M2-polarized macrophage migration through ROCK2 signaling and podosome formation. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor Type Protein Tyrosine Phosphatase Epsilon (PTPRE) Plays an Oncogenic Role in Thyroid Carcinoma by Activating the AKT and ERK1/2 Signaling Pathway., [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]., [RefSeq]; These data demonstrate that HCV infection reduces PTPRE expression in the liver and peripheral blood mononuclear cell sof infected humans Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q13345;Q5VWH3;Q5VWH4;Q96KQ6", "ec_number_list": "3.1.3.16;3.1.3.48;3.1.3.21;3.1.3.18;3.1.3.-;3.1.3.5;3.1.3.2;2.7.10.1;3.1.3.67;3.1.3.27", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005001 transmembrane receptor protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0007165 signal transduction;GO:0006470 protein dephosphorylation;GO:0033003 regulation of mast cell activation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P23469-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54821-1", "uniprot_id": "PRRX1_HUMAN", "mass": 27296.0, "length": 245, "protein_name": "Paired mesoderm homeobox protein 1", "gene_name": "PRRX1", "organism": "Human", "refseq_name": "paired mesoderm homeobox protein 1 isoform pmx-1a", "refseq_ac": "NP_008833", "gene_names_uniprotkb": "PRRX1; PMX1", "gene_names_refseq": "AGOTC; PHOX1; PMX1; PRRX1; PRX-1; PRX1", "protein_names_uniprotkb": "Paired mesoderm homeobox protein 1; Homeobox protein PHOX1; PRX-1; Paired-related homeobox protein 1", "protein_names_refseq": "homeobox protein PHOX1; paired mesoderm homeobox protein 1 isoform pmx-1a", "tax_id": 9606, "disease": "agnathia-otocephaly complex (Disease Ontology:DOID:0060341)", "pathway": " (hsa:5396)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11063257;11237011;1509260;19054851;21294718;25576301;26992070;27846572;28411811;29393594;29557506;30429286;31154438;31844290;31848261;32157095;33592498;34019948;34561969;35051231;35281030;35318648;35580925;35589735;36206097;36968142;37154149;38869718", "class_list": "", "function": "A PRRX1 Signature Identifies TIM-3 and VISTA as Potential Immune Checkpoint Targets in a Subgroup of Microsatellite Stable Colorectal Cancer Liver Metastases. Publication Status: Online-Only, [RefSeq, PubMed]; Exosomal circPRRX1 functions as a ceRNA for miR-596 to promote the proliferation, migration, invasion, and reduce radiation sensitivity of gastric cancer cells via the upregulation of NF-kappaB activating protein., [RefSeq, PubMed]; LncRNA KIFAP3-5:1 inhibits epithelial-mesenchymal transition of renal tubular cell through PRRX1 in diabetic nephropathy. Publication Status: Online-Only, [RefSeq, PubMed]; Master transcription factor of stromal fibroblasts for myofibroblastic lineage progression. Orchestrates the functional drift of fibroblasts into myofibroblastic phenotype via TGF-beta signaling by remodeling a super-enhancer landscape. Through this function, plays an essential role in wound healing process (PubMed:35589735). Acts as a transcriptional regulator of muscle creatine kinase (MCK) and so has a role in the establishment of diverse mesodermal muscle types. The protein binds to an A/T-rich element in the muscle creatine enhancer (By similarity). May play a role in homeostasis and regeneration of bone, white adipose tissue and derm (By similarity)., [UniProtKB, UniProtKB, PubMed]; PRRX1 Is a Novel Prognostic Biomarker and Facilitates Tumor Progression Through Epithelial-Mesenchymal Transition in Uveal Melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance., [RefSeq, PubMed]; The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activator, when transfected in fibroblastic or myoblastic cell lines. This activity may be masked by the C-terminal OAR domain., [UniProtKB, UniProtKB]; Transcriptional repressor, when transfected in fibroblastic or myoblastic cell lines., [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": 10, "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": "B5BUM7;O60807", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0071837 HMG box domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "P54821-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q00577-1", "uniprot_id": "PURA_HUMAN", "mass": 34911.0, "length": 322, "protein_name": "Transcriptional activator protein Pur-alpha", "gene_name": "PURA", "organism": "Human", "refseq_name": "transcriptional activator protein Pur-alpha", "refseq_ac": "NP_005850", "gene_names_uniprotkb": "PURA; PUR1", "gene_names_refseq": "MRD31; NEDRIHF; PUR-ALPHA; PUR1; PURALPHA; PURA", "protein_names_uniprotkb": "Transcriptional activator protein Pur-alpha; Purine-rich single-stranded DNA-binding protein alpha", "protein_names_refseq": "purine-rich single-stranded DNA-binding protein alpha; transcriptional activator protein Pur-alpha", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 31 (Disease Ontology:DOID:0070061)", "pathway": " (hsa:5813)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;1448097;17081983;18452278;20068231;20166139;20976240;23186163;23301498;25342064;25439098;25576301;27846572;27862975;29557506;31020640;31154438;31844290;32488085;32502341;32938616;32983136;33592498;33912179;33968037;37149929;37909329;37938771;38655849;38665916;38777099;39000020;40914422", "class_list": "", "function": "DUSP8 induces TGF-beta-stimulated IL-9 transcription and Th9-mediated allergic inflammation by promoting nuclear export of Pur-alpha. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide CRISPR/Cas9 screening identifies a targetable MEST-PURA interaction in cancer metastasis., [RefSeq, PubMed]; PURA and GLUT1: Sweet partners for brain health., [RefSeq, PubMed]; PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association. Publication Status: Online-Only, [RefSeq, PubMed]; Purine-Rich Element Binding Protein Alpha, a Nuclear Matrix Protein, Has a Role in Prostate Cancer Progression. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]., [RefSeq]; This is a probable transcription activator that specifically binds the purine-rich single strand of the PUR element located upstream of the MYC gene (PubMed:1448097, PubMed:20976240). May play a role in the initiation of DNA replication and in recombination., [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": 8, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0003723 RNA binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0046332 SMAD binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0098963 dendritic transport of messenger ribonucleoprotein complex;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:0006270 DNA replication initiation", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q00577-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15397-1", "uniprot_id": "PUM3_HUMAN", "mass": 73584.0, "length": 648, "protein_name": "Pumilio homolog 3", "gene_name": "PUM3", "organism": "Human", "refseq_name": "pumilio homolog 3", "refseq_ac": "NP_055693", "gene_names_uniprotkb": "PUM3; KIAA0020; PUF-A; XTP5; cPERP-C", "gene_names_refseq": "HA-8; HLA-HA8; KIAA0020; PEN; PUF-A; PUF6; PUM3; XTP5", "protein_names_uniprotkb": "Pumilio homolog 3; HBV X-transactivated gene 5 protein; HBV XAg-transactivated protein 5; HLA-HA8; Minor histocompatibility antigen HA-8", "protein_names_refseq": "HBV X-transactivated gene 5 protein; HBV XAg-transactivated protein 5; minor histocompatibility antigen HA-8; penguin homolog; protein 5 transactivated by hepatitis B virus X antigen (HBxAg); pumilio homolog 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9933)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "11148223;11237011;12429849;20813266;21266351;22544926;23022467;23480177;24366607;24714562;24715725;25418920;25512524;25576301;25645385;25880248;25892735;26992070;27600516;27846572;27893789;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;29789417;30315122;30379171;30429286;30524438;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34405274;34407138;34509645;34561969;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36241641;36284347;38665916;39534244;40596516", "class_list": "", "function": "Inhibits the poly(ADP-ribosyl)ation activity of PARP1 and the degradation of PARP1 by CASP3 following genotoxic stress (PubMed:21266351). Binds to double-stranded RNA or DNA without sequence specificity (PubMed:25512524). Involved in development of the eye and of primordial germ cells (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Phosphorylation of PUF-A/PUM3 on Y259 modulates PUF-A stability and cell proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; Results indicate that mismatches in minor H antigens HA-8 (KIAA0020) and ACC-1 (BCL2A1) predisposed to chronic graft-versus-host disease (GvHD)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K804;Q547G7;Q5SZY9;Q6IB47;Q96B27;Q96L78;Q96L79;Q96L80", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005783 endoplasmic reticulum;GO:0005694 chromosome", "go_biological_process": "GO:0006417 regulation of translation;GO:0010835 regulation of protein ADP-ribosylation", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q15397-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3B8N5-1", "uniprot_id": "PROX2_HUMAN", "mass": 65586.0, "length": 592, "protein_name": "Prospero homeobox protein 2", "gene_name": "PROX2", "organism": "Human", "refseq_name": "prospero homeobox protein 2 isoform 2", "refseq_ac": "NP_001073877", "gene_names_uniprotkb": "PROX2", "gene_names_refseq": "PROX-2; PROX2", "protein_names_uniprotkb": "Prospero homeobox protein 2; Homeobox prospero-like protein PROX2; PROX-2", "protein_names_refseq": "homeobox prospero-like protein PROX2; prospero homeobox protein 2 isoform 2", "tax_id": 9606, "disease": "brain cancer (Disease Ontology:DOID:1319); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:283571)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;23033978;29557506;31154438;35051231", "class_list": "", "function": "Transcription regulator. Does not seem to be essential for embryonic development and postnatal survival (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "C9J5W1;Q8N9Q3", "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:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0060059 embryonic retina morphogenesis in camera-type eye;GO:0035295 tube development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q3B8N5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6NUJ5-1", "uniprot_id": "PWP2B_HUMAN", "mass": 63967.0, "length": 590, "protein_name": "PWWP domain-containing protein 2B", "gene_name": "PWWP2B", "organism": "Human", "refseq_name": "PWWP domain-containing protein 2B isoform 2", "refseq_ac": "NP_001092107", "gene_names_uniprotkb": "PWWP2B; PWWP2", "gene_names_refseq": "PWWP2B; PWWP2; bA432J24.1; pp8607", "protein_names_uniprotkb": "PWWP domain-containing protein 2B", "protein_names_refseq": "PWWP domain containing 2; PWWP domain-containing protein 2B isoform 2; PWWP domain-containing protein 2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:170394); (R-HSA-9937850)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "12183469;12504854;15302935;15456747;15516265;15643425;15701600;16415179;16428440;16707490;17525332;18571423;19615748;20068231;20523938;21490301;22398447;23186163;23239876;23361464;24252660;24307175;24385926;24554700;24920672;25753662;27732854;27806305;28533432;28977666;30122475;30228260;30327463;30429286;30980593;31092671;31154438;32157095;32161166;32897882;33264408;33283408;33912179;33968037;33981976;34433824;35051231;35494241;35580925;35582821;36010968;39894887;9427644;9804427;9885572", "class_list": "", "function": "Chromatin-binding protein that acts as an adapter between distinct nucleosome components (H3K36me3 or H2A.Z) and chromatin-modifying complexes, contributing to the regulation of the levels of histone acetylation at actively transcribed genes (PubMed:30228260). Competes with CHD4 and MBD3 for interaction with MTA1 to form a NuRD subcomplex, preventing the formation of full NuRD complex (containing CHD4 and MBD3), leading to recruitment of HDACs to gene promoters resulting in turn in the deacetylation of nearby H3K27 and H2A.Z (PubMed:30228260). Plays a role in facilitating transcriptional elongation through regulation of histone acetylation (By similarity). Negatively regulates brown adipocyte thermogenesis by interacting with and stabilizing HDAC1 at the UCP1 gene promoter, thereby promoting histone deacetylation at the promoter leading to the repression of UCP1 expression (By similarity)., [UniProtKB, PubMed, UniProtKB]; PWWP2B promotes DNA end resection and homologous recombination., [RefSeq, PubMed]; Study in HeLa, HEK293F, and mouse embryonic stem cells reveal that loss of PWWP2A/B leads to increases in histone acetylation predominantly at highly expressed genes, accompanied by decreases in Pol II elongation. Collectively, these findings suggest a role for PWWP2A/B in regulating transcription through the fine-tuning of histone acetylation dynamics at actively transcribed genes. 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NM90;B5MDQ1;H9KV61;Q5SZI0;Q6ZQX5;Q96F43", "ec_number_list": "", "go_molecular_function": "GO:0120325 NuRD complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0120161 regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q6NUJ5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7RTY9-1", "uniprot_id": "PRS41_HUMAN", "mass": 35078.0, "length": 318, "protein_name": "Serine protease 41", "gene_name": "PRSS41", "organism": "Human", "refseq_name": "serine protease 41 isoform 2 precursor", "refseq_ac": "NP_001341515", "gene_names_uniprotkb": "PRSS41; TESSP1", "gene_names_refseq": "PRSS41; TESSP1", "protein_names_uniprotkb": "Serine protease 41; 3.4.21.-; TESSP-1; Testis serine protease 1", "protein_names_refseq": "protease, serine 41; putative serine protease 41; serine protease 41 isoform 2 precursor; testis-specific serine protease 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:360226); (R-HSA-163125)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11072085;11237011;12838346;20797691;2443973;29351928;3422494", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "3.4.11.9;3.5.1.92;3.1.3.1;3.9.1.1;3.4.17.12;3.1.4.50;3.2.2.6;2.4.2.31;3.4.21.-", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0043229 intracellular organelle;GO:0098552 side of membrane", "go_biological_process": "GO:0016485 protein processing;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q7RTY9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z7A4-1", "uniprot_id": "PXK_HUMAN", "mass": 64950.0, "length": 578, "protein_name": "PX domain-containing protein kinase-like protein", "gene_name": "PXK", "organism": "Human", "refseq_name": "PX domain-containing protein kinase-like protein isoform b", "refseq_ac": "NP_001276024", "gene_names_uniprotkb": "PXK", "gene_names_refseq": "MONAKA; PXK; SLOB", "protein_names_uniprotkb": "PX domain-containing protein kinase-like protein; MONaKA; Modulator of Na,K-ATPase", "protein_names_refseq": "PX domain-containing protein kinase-like protein isoform b; PX domain-containing protein kinase-like protein; PX ser/thr kinase v2; PX serine/threonine kinase; modulator of Na,K-ATPase long form", "tax_id": 9606, "disease": "polycythemia due to hypoxia (Disease Ontology:DOID:2835)", "pathway": " (hsa:54899)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "11237011;15289607;16135750;16142408;17344846;18204446;19225526;22564745;24534757;24715725;25505266;25576301;25596907;25852190;25880248;26154972;26992070;27846572;27920218;28514659;28832583;28834231;28904123;29242379;29331515;29437277;29508533;29557506;29632711;29786170;30315122;30524438;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33921254;33968037;33981976;34185709;34357683;34509645;35051231;35580925;36010968;36241641;36284347", "class_list": "", "function": "Binds to and modulates brain Na,K-ATPase subunits ATP1B1 and ATP1B3 and may thereby participate in the regulation of electrical excitability and synaptic transmission. May not display kinase activity., [UniProtKB, PubMed, UniProtKB]; First described as part of human kinome analysis, named Slob after Drosophila ortholog., [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]; MONaKA modulates brain Na,K-ATPase by binding tightly to its beta1 and beta3 subunits, and may thereby participate in the regulation of electrical excitability and synaptic transmission [MONaKA], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results confirm the genetic association of the locus 3p14.3 with systemic lupus erythematosus in Europeans and point to the ABHD6 and not PXK, as the major susceptibility gene in the region., [RefSeq, PubMed]; Study presents four new regions having genetic associations with systemic lupus erythematosus in women of European descent: ITGAM, KIAA1542, PXK and rs10798269 GeneRIF: Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Telomere Length and Male Fertility. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; Two of these kinases that were classified as resistors were PX domain-containing serine/threonine kinase (PXK) and AP2-associated kinase 1 (AAK1), which promote receptor endocytosis and may enable cells to resist TRAIL-induced 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": 0, "reported_mutagensis": 3, "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": "Q3BCH4;Q3BCH5;Q3BCH6;Q3BDW1;Q45L83;Q59EX3;Q6PK17;Q6ZN39;Q96CA3;Q96R07;Q9NXB8", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding;GO:0035091 phosphatidylinositol binding;GO:0004672 protein kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006954 inflammatory response;GO:0050804 modulation of chemical synaptic transmission;GO:0032780 negative regulation of ATP-dependent activity;GO:0043271 negative regulation of monoatomic ion transport", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q7Z7A4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86SH4-1", "uniprot_id": "PRNT_HUMAN", "mass": 10756.0, "length": 94, "protein_name": "Putative testis-specific prion protein", "gene_name": "PRNT", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "PRNT", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative testis-specific prion protein; Protein M8", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "12514748;16460908;17199895;17562432;30429286;31154438;33392160;35580925", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RPD9;B7ZBI9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q86SH4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N0Z8-1", "uniprot_id": "PUSL1_HUMAN", "mass": 33233.0, "length": 303, "protein_name": "tRNA pseudouridine synthase-like 1", "gene_name": "PUSL1", "organism": "Human", "refseq_name": "tRNA pseudouridine synthase-like 1 isoform 2", "refseq_ac": "NP_699170", "gene_names_uniprotkb": "PUSL1", "gene_names_refseq": "PUSL1", "protein_names_uniprotkb": "tRNA pseudouridine synthase-like 1; 5.4.99.12; tRNA pseudouridine (38/39/40) synthase-like 1; tRNA pseudouridylate synthase-like 1; tRNA-uridine isomerase-like 1", "protein_names_refseq": "pseudouridylate synthase like 1; tRNA pseudouridine synthase-like 1 isoform 2; tRNA pseudouridine synthase-like 1; tRNA pseudouridylate synthase-like 1; tRNA-uridine isomerase-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:126789)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;19690332;20112406;22869377;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26728094;26811146;26992070;27397612;27600516;27846572;27862975;28904123;29557506;30315122;30429286;30779550;31844290;31848261;32157095;32265295;32488085;32502341;32938616;32983136;33141586;33592498;33717175;33912179;34171305;34561969;35051231;35580925;36010968;36241641;36284347;37938771;41136621", "class_list": "", "function": "Pseudouridylate synthase that catalyzes the conversion of uridine to pseudouridine in mitochondrial tRNAs. Acts on position 38/39/40 in the anticodon stem of mitochondrial tRNAs., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DP76;Q5TA41", "ec_number_list": "5.4.99.12;5.4.99.45;5.4.99.-", "go_molecular_function": "GO:0003723 RNA binding;GO:0009982 pseudouridine synthase activity;GO:0106029 tRNA pseudouridine synthase activity;GO:0160147 tRNA pseudouridine(38-40) synthase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0031119 tRNA pseudouridine synthesis;GO:0008033 tRNA processing;GO:0001522 pseudouridine synthesis", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q8N0Z8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NDX1-1", "uniprot_id": "PSD4_HUMAN", "mass": 116249.0, "length": 1056, "protein_name": "PH and SEC7 domain-containing protein 4", "gene_name": "PSD4", "organism": "Human", "refseq_name": "PH and SEC7 domain-containing protein 4", "refseq_ac": "NP_036587", "gene_names_uniprotkb": "PSD4; EFA6B; TIC", "gene_names_refseq": "EFA6B; PSD4; TIC", "protein_names_uniprotkb": "PH and SEC7 domain-containing protein 4; Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B; Exchange factor for ARF6 B; Pleckstrin homology and SEC7 domain-containing protein 4; Telomeric of interleukin-1 cluster protein", "protein_names_refseq": "ADP-ribosylation factor guanine nucleotide-exchange factor 6; PH and SEC7 domain-containing protein 4; SEC7 homolog; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6B; exchange factor for ARF6 B; pleckstrin homology and SEC7 domain-containing protein 4; telomeric of interleukin-1 cluster protein", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:23550)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11050434;11237011;12082148;19651622;19690332;20058876;21458045;22645359;23186163;23481700;23603394;24275569;24715725;25418920;25505266;25576301;26154972;26375851;26992070;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;31154438;31217245;31844290;31848261;32265295;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33392160;33633747;33691108;33850160;33912179;33932127;33936100;33981976;34509645;34561969;35051231;35140331;35154160;35494241;35561310;35580925;36010968;36284347;40914422", "class_list": "", "function": "DDR1 promotes hepatocellular carcinoma metastasis through recruiting PSD4 to ARF6., [RefSeq, PubMed]; EFA6B regulates a stop signal for collective invasion in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II-containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with several phosphatidylinositol phosphate species, including phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 4,5-bisphosphate., [UniProtKB, PubMed, PubMed]; One of the cytohesin family of guanine nucleotide exchange factors, Tic may act on the ARF family of GTP-binding proteins. A PH domain with similar sequence and relative position to those in other cytohesins may allow association with phosphoinositides. Review article, [RefSeq, PubMed]; TNF-alpha/NF-kappaB signaling epigenetically represses PSD4 transcription to promote alcohol-related hepatocellular carcinoma progression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEG7;A8K1Y0;O95621;Q4ZG34;Q6GPH8;Q8IYP4", "ec_number_list": "", "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0016020 membrane;GO:0032587 ruffle membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0032012 regulation of ARF protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q8NDX1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92626-1", "uniprot_id": "PXDN_HUMAN", "mass": 165275.0, "length": 1479, "protein_name": "Peroxidasin homolog", "gene_name": "PXDN", "organism": "Human", "refseq_name": "peroxidasin homolog isoform 2 precursor", "refseq_ac": "NP_036425", "gene_names_uniprotkb": "PXDN; KIAA0230; MG50; PRG2; PXD01; VPO1; VPO", "gene_names_refseq": "ASGD7; COPOA; D2S448E; D2S448; MG50; PRG2; PXDN; PXN; VPO; hsPxd01", "protein_names_uniprotkb": "Peroxidasin homolog; 1.11.2.-; Melanoma-associated antigen MG50; Peroxidasin 1; Vascular peroxidase 1; hsPxd01; p53-responsive gene 2 protein", "protein_names_refseq": "melanoma-associated antigen MG50; p53-responsive gene 2 protein; peroxidasin 1; peroxidasin homolog isoform 2 precursor; peroxidasin homolog; vascular peroxidase 1", "tax_id": 9606, "disease": "anterior segment dysgenesis 7 (Disease Ontology:DOID:0080612)", "pathway": " (hsa:7837); (R-HSA-2243919); (R-HSA-9926550)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10441517;11103812;11237011;11313359;11518510;12211432;1237296;1348714;1484505;15001579;1567360;18318008;18929642;19159218;19590037;19691289;19729652;19940119;20418909;21907015;22842973;23090970;23481700;23584533;24190977;24253521;24939590;25576301;25708780;25713063;26178375;27697841;28154175;29242379;29391424;29741879;29786170;29789417;29982533;30429286;30459171;30484775;30716301;30779550;31295557;31831667;31844290;31848261;31953133;32157095;32161166;32350084;32485152;32502341;32543734;32571911;32897882;32938616;33592498;33836029;33968037;34217213;34679700;34725712;35051231;35317099;35580925;35874702;3595596;36215666;36241641;36284347;37074911;37801286;37938771;37986328;38665916;39199364;39894887;3992061;41816;5246001;5723342;6129847;641035;8636146;9168821;9470928", "class_list": "", "function": "Catalyzes the two-electron oxidation of bromide by hydrogen peroxide and generates hypobromite as a reactive intermediate which mediates the formation of sulfilimine cross-links between methionine and hydroxylysine residues within an uncross-linked collagen IV/COL4A1 NC1 hexamer (PubMed:18929642, PubMed:19590037, PubMed:22842973, PubMed:25708780, PubMed:25713063, PubMed:27697841, PubMed:28154175, PubMed:34679700). In turns, directly contributes to the collagen IV network-dependent fibronectin/FN and laminin assembly, which is required for full extracellular matrix (ECM)-mediated signaling (PubMed:19590037, PubMed:32543734, PubMed:34679700). Thus, sulfilimine cross-links are essential for growth factor-induced cell proliferation and survival in endothelial cells, an event essential to basement membrane integrity (PubMed:32543734). In addition, through the bromide oxidation, may promote tubulogenesis and induce angiogenesis through ERK1/2, Akt, and FAK pathways (PubMed:25713063). Moreover brominates alpha2 collagen IV chain/COL4A2 at 'Tyr-1485' and leads to bromine enrichment of the basement membranes (PubMed:32571911). In vitro, can also catalyze the two-electron oxidation of thiocyanate and iodide and these two substrates could effectively compete with bromide and thus inhibit the formation of sulfilimine bonds (PubMed:28154175). Binds laminins (PubMed:32485152). May play a role in the organization of eyeball structure and lens development during eye development (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DNA Methylation of PXDN Is Associated with Early-Life Adversity in Adult Mental Disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN provides novel insights into colorectal cancer prognosis prediction in Taiwan., [RefSeq, PubMed]; Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma., [RefSeq, PubMed]; Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis, [RefSeq, PubMed]; The role of peroxidasin in solid cancer progression. Review article, [RefSeq, PubMed]; This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 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": 12, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 12, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 12, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 4, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 93, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 51, "disease_count": 1, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A8QM65;D6W4Y0;Q4KMG2", "ec_number_list": "1.11.2.2;1.11.1.7;1.11.2.-", "go_molecular_function": "GO:0005152 interleukin-1 receptor antagonist activity;GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0016684 oxidoreductase activity, acting on peroxide as acceptor;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0001525 angiogenesis;GO:0006955 immune response;GO:0006979 response to oxidative stress;GO:0007155 cell adhesion;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q92626-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96A99-1", "uniprot_id": "PTX4_HUMAN", "mass": 52339.0, "length": 478, "protein_name": "Pentraxin-4", "gene_name": "PTX4", "organism": "Human", "refseq_name": "pentraxin-4 isoform 2", "refseq_ac": "NP_001013680", "gene_names_uniprotkb": "PTX4; C16orf38", "gene_names_refseq": "C16orf38; PTX4", "protein_names_uniprotkb": "Pentraxin-4", "protein_names_refseq": "long pentraxin 4; neuronal pentraxin-like protein C16orf38; pentraxin 4, long; pentraxin-4 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:390667)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;20112406;20357257;31530632", "class_list": "", "function": "Study of long pentraxin PTX4 in silico and by transcript expression shows that the gene clusters alone in phylogenetic analysis, is well conserved from mammals to lower vertebrates, and has a unique pattern of messenger RNA expression., [RefSeq, PubMed]; This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 2, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96A99-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99460-1", "uniprot_id": "PSMD1_HUMAN", "mass": 105836.0, "length": 953, "protein_name": "26S proteasome non-ATPase regulatory subunit 1", "gene_name": "PSMD1", "organism": "Human", "refseq_name": "26S proteasome non-ATPase regulatory subunit 1 isoform 2", "refseq_ac": "NP_001177966", "gene_names_uniprotkb": "PSMD1", "gene_names_refseq": "P112; PSMD1; Rpn2; S1", "protein_names_uniprotkb": "26S proteasome non-ATPase regulatory subunit 1; 26S proteasome regulatory subunit RPN2; 26S proteasome regulatory subunit S1; 26S proteasome subunit p112", "protein_names_refseq": "26S proteasome non-ATPase regulatory subunit 1 isoform 2; 26S proteasome non-ATPase regulatory subunit 1; 26S proteasome regulatory subunit RPN2; 26S proteasome regulatory subunit S1; 26S proteasome subunit p112; proteasome (prosome, macropain) 26S subunit, non-ATPase, 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5707); (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-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1093, "publication_id_list": 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"class_list": "", "function": "Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Depletion of proteasome subunit PSMD1 induces cancer cell death via protein ubiquitination and DNA damage, irrespective of p53 status. Erratum:[Sci Rep. 2024 May 3;14(1):10202. doi: 10.1038/s41598-024-60634-1. PMID: 38702504] Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial outer membrane protein MTUS1/ATIP1 exerts antitumor effects through ROS-induced mitochondrial pyroptosis in head and neck squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; PSMD1 as a prognostic marker and potential target in oropharyngeal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B8ZZH9;Q24JU0;Q53TI2;Q6GMU5;Q6P2P4;Q6PJM7;Q6PKG9;Q86VU1;Q8IV79", "ec_number_list": "", "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0008540 proteasome regulatory particle, base subcomplex;GO:0022624 proteasome accessory complex;GO:0005576 extracellular region;GO:0005634 nucleus", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process;GO:0061136 regulation of proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 109.8, "record_id": "Q99460-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q99946-1", "uniprot_id": "PRRT1_HUMAN", "mass": 31430.0, "length": 306, "protein_name": "Proline-rich transmembrane protein 1", "gene_name": "PRRT1", "organism": "Human", "refseq_name": "proline-rich transmembrane protein 1 isoform 1", "refseq_ac": "NP_085154", "gene_names_uniprotkb": "PRRT1; C6orf31; NG5", "gene_names_refseq": "C6orf31; DSPD1; IFITMD7; NG5; PRRT1; SynDIG4", "protein_names_uniprotkb": "Proline-rich transmembrane protein 1; DSPD1; Dispanin subfamily D member 1; SynDIG4; Synapse differentiation-induced protein 4", "protein_names_refseq": "dispanin subfamily D member 1; interferon induced transmembrane protein domain containing 7; proline-rich transmembrane protein 1 isoform 1; synapse differentiation-induced protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:80863)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;14656967;16959974;19116923;19143821;19851445;22363774", "class_list": "", "function": "Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Required to maintain a pool of extrasynaptic AMPA-regulated glutamate receptors (AMPAR) which is necessary for synapse development and function. Regulates basal AMPAR function and synaptic transmission during development but is dispensable at mature hippocampal synapses. Plays a role in regulating basal phosphorylation levels of glutamate receptor GRIA1 and promotes GRIA1 and GRIA2 cell surface expression., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6ND08;A6ND40;B0S869;Q5SSW4;Q5SSX7;Q5STI1;Q96DW3;Q96NQ8", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0030545 signaling receptor regulator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0045211 postsynaptic membrane;GO:0030672 synaptic vesicle membrane;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0050808 synapse organization;GO:0060292 long-term synaptic depression;GO:0034394 protein localization to cell surface;GO:2000311 regulation of AMPA receptor activity", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q99946-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UIG4-1", "uniprot_id": "PS1C2_HUMAN", "mass": 15101.0, "length": 136, "protein_name": "Psoriasis susceptibility 1 candidate gene 2 protein", "gene_name": "PSORS1C2", "organism": "Human", "refseq_name": "psoriasis susceptibility 1 candidate gene 2 protein precursor", "refseq_ac": "NP_054788", "gene_names_uniprotkb": "PSORS1C2; C6orf17; SPR1", "gene_names_refseq": "C6orf17; PSORS1C2; SPR1", "protein_names_uniprotkb": "Psoriasis susceptibility 1 candidate gene 2 protein; Protein SPR1", "protein_names_refseq": "psoriasis susceptibility 1 candidate gene 2 protein precursor; psoriasis susceptibility 1 candidate gene 2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:170680)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10545595;12823445;12930300;15523160;16702430;27943452", "class_list": "", "function": "HLA-Cw*06 allele frequency is associated with psoriasis, [RefSeq, PubMed]; HLA-Cw6 remains the major risk allele in Chinese psoriatics, and that the SPR1 gene might not play an important role in the causation of PV., [RefSeq, PubMed]; In a case-control study, five of the nine single nucleotide polymorphisms (SNPs) found in SEEK1 were associated with psoriasis, while one of the four SNPs found in SPR1 showed association., [RefSeq, PubMed]; In summary, our results identify PSORS1C2 as a keratinocyte cornification-associated protein that has originated in evolutionarily basal mammals and has undergone gene inactivation in association with the loss of the skin barrier function in aquatic mammals., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "Q5STD0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9UIG4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJV8-1", "uniprot_id": "PURG_HUMAN", "mass": 39556.0, "length": 347, "protein_name": "Purine-rich element-binding protein gamma", "gene_name": "PURG", "organism": "Human", "refseq_name": "purine-rich element-binding protein gamma isoform B", "refseq_ac": "NP_001015508", "gene_names_uniprotkb": "PURG", "gene_names_refseq": "PURG-A; PURG-B; PURGA; PURGB; PURG", "protein_names_uniprotkb": "Purine-rich element-binding protein gamma; Purine-rich element-binding protein G", "protein_names_refseq": "Pur-gamma; purine-rich element-binding protein gamma isoform B; purine-rich element-binding protein gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:29942)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;12034829;16959974;29393594;29557506;35051231", "class_list": "", "function": "Distinct proteins encoded by alternative transcripts of the PURG gene, located contrapodal to WRN on chromosome 8, determined by differential termination/polyadenylation, [RefSeq, PubMed]; The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8TE64", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA 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:0032422 purine-rich negative regulatory element binding", "go_cellular_component": "GO:0005634 nucleus;GO:0045202 synapse", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9UJV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UNM6-1", "uniprot_id": "PSD13_HUMAN", "mass": 42945.0, "length": 376, "protein_name": "26S proteasome non-ATPase regulatory subunit 13", "gene_name": "PSMD13", "organism": "Human", "refseq_name": "26S proteasome non-ATPase regulatory subunit 13 isoform 1", "refseq_ac": "NP_002808", "gene_names_uniprotkb": "PSMD13", "gene_names_refseq": "HSPC027; PSMD13; Rpn9; S11; p40.5", "protein_names_uniprotkb": "26S proteasome non-ATPase regulatory subunit 13; 26S proteasome regulatory subunit RPN9; 26S proteasome regulatory subunit S11; 26S proteasome regulatory subunit p40.5", "protein_names_refseq": "26S proteasome non-ATPase regulatory subunit 13 isoform 1; 26S proteasome non-ATPase regulatory subunit 13; 26S proteasome regulatory subunit RPN9; 26S proteasome regulatory subunit S11; 26S proteasome regulatory subunit p40.5; 26S proteasome subunit p40.5; proteasome (prosome, macropain) 26S subunit, non-ATPase, 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:5719); (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-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1060, "publication_id_list": 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"class_list": "", "function": "Alternative splicing of PSMD13 mediated by genetic variants is significantly associated with endometrial cancer risk., [RefSeq, PubMed]; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KT15;O75831;Q53XU2;Q9UNV3", "ec_number_list": "", "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0022624 proteasome accessory complex;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 106.3, "record_id": "Q9UNM6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UQ72-1", "uniprot_id": "PSG11_HUMAN", "mass": 37146.0, "length": 335, "protein_name": "Pregnancy-specific beta-1-glycoprotein 11", "gene_name": "PSG11", "organism": "Human", "refseq_name": "pregnancy-specific beta-1-glycoprotein 11 isoform 2", "refseq_ac": "NP_001106881", "gene_names_uniprotkb": "PSG11; PSG13; PSG14", "gene_names_refseq": "PSBG-11; PSBG-13; PSG11; PSG13; PSG14", "protein_names_uniprotkb": "Pregnancy-specific beta-1-glycoprotein 11; PS-beta-G-11; PS-beta-G-13; PSBG-11; PSBG-13; Pregnancy-specific beta-1-glycoprotein 13; Pregnancy-specific glycoprotein 11; Pregnancy-specific glycoprotein 13", "protein_names_refseq": "PS-beta-G-11; PS-beta-G-13; pregnancy-specific beta-1-glycoprotein 11 isoform 2; pregnancy-specific beta-1-glycoprotein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:5680); (R-HSA-202733)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10.1074/mcp.M114.046862;10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;1840485;19279206;21193412;21659548;22748001;23945545;24043627;24764293;2538457;25813380;468991;7509040;7521878;7794280;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Recurrent deletions that may confer risk for preeclampsia include a potentially functionally important copy-number deletion in the PSG11 gene. Publication Status: Online-Only, [RefSeq, PubMed]; The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 26, "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": "Q13179;Q15242;Q8WW91;Q9UNE4", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0007565 female pregnancy;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9UQ72-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NKG5-1", "uniprot_id": "RTL1_HUMAN", "mass": 155048.0, "length": 1358, "protein_name": "Retrotransposon-like protein 1", "gene_name": "RTL1", "organism": "Human", "refseq_name": "retrotransposon-like protein 1", "refseq_ac": "NP_001128360", "gene_names_uniprotkb": "RTL1; MAR1; MART1; PEG11", "gene_names_refseq": "HUR1; MART1; Mar1; PEG11; RTL1; SIRH2", "protein_names_uniprotkb": "Retrotransposon-like protein 1; Mammalian retrotransposon derived protein 1; Paternally expressed gene 11 protein; Retrotransposon-derived protein PEG11", "protein_names_refseq": "Sushi-Ichi retrotransposon homolog 2; mammalian retrotransposon derived protein 1; mammalian retrotransposon-derived 1; paternally expressed 11; paternally expressed gene 11 protein; retrotransposon-derived protein PEG11; retrotransposon-like 1; retrotransposon-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388015)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "16093683;18176563;27174469;28502757;29557506;32387766;33484574;34087231;34087483;37938771", "class_list": "", "function": "Data suggest that DNA is differentially methylated (hypomethylated) at a gene locus associated with regulation of expression of RTL1 and miR136 in type 1 diabetes; these studies were conducted using tissue bank placentas and whole blood cell DNA from children with type 1 diabetes. (RTL1 = retrotransposon-like protein 1; miR136 = microRNA 136), [RefSeq, PubMed]; Expression profiling of RTL1 in human breast cancer tissues and cell lines., [RefSeq, PubMed]; Plays an essential role in capillaries endothelial cells for the maintenance of feto-maternal interface and for development of the placenta., [UniProtKB]; RTL1, a paternally expressed gene in a cluster of imprinted genes on chromosome 14q32.2, is associated with upd(14)pat-like and upd(14)mat-like phenotypes., [RefSeq, PubMed]; The role of eutherian-specific RTL1 in the nervous system and its implications for the Kagami-Ogata and Temple syndromes., [RefSeq, PubMed]; This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed antisense transcript, which contains several microRNAs targeting the transcripts of this gene through an RNA interference (RNAi) mechanism. This gene is essential for maintenance of the fetal capillaries. [provided by RefSeq, Jul 2009]., [RefSeq]; We find that placental expression of DIO3 and RTL1) correlates with prenatal growth. Combined, these findings suggest that epigenetic programming and gene expression within the DLK1-DIO3 imprinted domain influence both prenatal and postnatal growth., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "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": "E9PKS8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0001890 placenta development;GO:0007519 skeletal muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A6NKG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NET4-1", "uniprot_id": "RTL9_HUMAN", "mass": 144280.0, "length": 1388, "protein_name": "Retrotransposon Gag-like protein 9", "gene_name": "RTL9", "organism": "Human", "refseq_name": "retrotransposon Gag-like protein 9", "refseq_ac": "NP_065820", "gene_names_uniprotkb": "RTL9; KIAA1318; RGAG1", "gene_names_refseq": "MAR9; MART9; RGAG1; RTL9; SIRH10", "protein_names_uniprotkb": "Retrotransposon Gag-like protein 9; Retrotransposon gag domain-containing protein 1; Tumor antigen BJ-HCC-23", "protein_names_refseq": "Sushi-Ichi retrotransposon homolog 10; mammalian retrotransposon-derived 9; retrotransposon Gag-like protein 9; retrotransposon gag domain containing 1; retrotransposon gag domain-containing protein 1; tumor antigen BJ-HCC-23; tumor antigen BJHCC23", "tax_id": 9606, "disease": "", "pathway": " (hsa:57529)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;16093683;18669648;22706990;24715725;25576301;29242379;29331515;29557506;30379171;31154438;31217245;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9P2M8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8NET4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62851-1", "uniprot_id": "RS25_HUMAN", "mass": 13742.0, "length": 125, "protein_name": "Small ribosomal subunit protein eS25", "gene_name": "RPS25", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS25", "refseq_ac": "NP_001019", "gene_names_uniprotkb": "RPS25", "gene_names_refseq": "RPS25; S25; eS25", "protein_names_uniprotkb": "Small ribosomal subunit protein eS25; 40S ribosomal protein S25", "protein_names_refseq": "40S ribosomal protein S25; small ribosomal subunit protein eS25", "tax_id": 9606, "disease": "", "pathway": " (hsa:6230); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 301, "publication_id_list": "10358005;10364207;10513815;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15104674;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17074750;17142313;17189298;17267404;17352659;17353269;17363904;17412707;1748303;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;18566446;1861871;18657639;18974281;19060897;19106111;19117535;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22174690;22190735;22195017;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23746841;23783831;2388630;24366607;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25432065;25469497;25525153;25576301;25645385;25810538;25969445;26154972;26237581;26728094;26758079;26811146;26929215;26992070;27452731;27526673;27600516;27726376;27846572;27920218;28063628;28065601;28132843;28218747;28228285;28260789;28467828;28510447;28649982;28685749;28832583;28860189;28904123;29242379;29314611;29393594;29413899;29437277;29493099;29557506;29632046;29632711;29786170;30192525;30293783;30315122;30429286;30484775;30573663;30779550;30804176;30833945;31154438;31217245;31222486;31358992;31530632;31611695;31844290;31848261;31998317;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32463448;32488085;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33080218;33091337;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33592498;33936100;33968037;33981976;34019948;34171305;34315815;34357683;34373319;34624207;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35526384;35561310;35580925;36241641;36302773;36581221;36610391;37217939;38665916;39395807;40930100;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7528217;7990965;8336711;8407925;8706699;8890909;8943342;8981922;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "A memory of eS25 loss drives resistance phenotypes., [RefSeq, PubMed]; Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399)., [UniProtKB, PubMed]; HBZ induces nuclear retention of RPS25 mRNA in the nucleus and loss of RPS25 protein expression. Inhibition of RPS25 expression stimulates Delta JunD synthesis., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S25E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; We performed a genetic screen for regulators of RAN translation and identified small ribosomal protein subunit 25 (RPS25), presenting a potential therapeutic target for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia and other neurodegenerative diseases caused by nucleotide repeat expansions., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R4M7;P25111", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006412 translation;GO:0006364 rRNA processing;GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 30.4, "record_id": "P62851-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08865-1", "uniprot_id": "RSSA_HUMAN", "mass": 32854.0, "length": 295, "protein_name": "Small ribosomal subunit protein uS2", "gene_name": "RPSA", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS2 isoform 2", "refseq_ac": "NP_001291217", "gene_names_uniprotkb": "RPSA; LAMBR; LAMR1", "gene_names_refseq": "37LRP; 67LR; ICAS; LAMBR; LAMR1; LBP/p40; LBP; LRP/LR; LRP; NEM/1CHD4; RPSA; SA; lamR; p40; uS2", "protein_names_uniprotkb": "Small ribosomal subunit protein uS2; 37 kDa laminin receptor precursor; 37/67 kDa laminin receptor; 37LRP; 40S ribosomal protein SA; 67 kDa laminin receptor; 67LR; Colon carcinoma laminin-binding protein; LBP/p40; LRP/LR; LamR; Laminin receptor 1; Laminin-binding protein precursor p40; Multidrug resistance-associated protein MGr1-Ag; NEM/1CHD4", "protein_names_refseq": "37 kDa laminin receptor; 37/67 kDa laminin receptor; 40S ribosomal protein SA; 67 kDa laminin receptor; colon carcinoma laminin-binding protein; laminin receptor 1 (67kD, ribosomal protein SA); laminin-binding protein precursor p40; multidrug resistance-associated protein MGr1-Ag; small ribosomal subunit protein uS2 isoform 2; small ribosomal subunit protein uS2", "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); familial isolated congenital asplenia (MONDO:MONDO:0010066)", "pathway": " (hsa:3921); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9918485); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 22, "publication_count": 357, "publication_id_list": "10079194;10358005;10364207;10659855;10772861;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11337487;11532962;11544179;11546874;11551508;11677247;11689427;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12682107;12718880;12832468;12853463;1385835;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15098107;15317934;1534510;15385533;15507651;15516338;15534230;15546618;15592455;15721257;15775988;15781252;15821744;15838506;16026328;16037817;16043514;16186820;16209946;16263087;16284618;16452507;16469117;16497976;16601204;16622410;16630668;16738141;16912115;16973587;16989641;17053788;17142313;17189298;17267404;17322306;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18063583;18065403;18066079;18166647;18230761;18256688;18266465;18285520;1834645;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18767875;18974281;18991276;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19531498;19556969;19564402;19608861;19608919;19664994;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21872626;21993680;22072790;22174690;22190735;22195017;22223895;22855488;22869377;22916032;23035226;23084921;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23576270;23579497;23658209;23746841;23783831;2388630;24074594;24126823;2429301;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25432065;2543954;25525153;25576301;25645385;25810538;25880248;25892735;25969445;26056282;26154972;26212330;26237581;26375851;26468529;26853435;26992070;27526673;27543614;27600516;27832191;27862975;27920218;28065601;28132843;28218747;28228285;28510447;28685749;28832583;28834231;28855257;28904123;29242379;29314611;29317506;29331515;29393594;29413899;29493099;29508533;29557506;29610346;29632046;29632711;2970639;29742433;29769354;29786170;29930882;30192525;30293783;30315122;30429286;30484775;30779550;30804176;30833945;31154438;31217245;31222486;31530632;31717259;31720911;31844290;31848261;32099016;32119511;32157095;32161166;32350084;32357974;32373127;32387766;32488085;32502341;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33080218;33091337;33123756;33141586;33188728;33214551;33268501;33392160;33479166;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34282707;34315815;34357683;34373319;34433824;34561969;34624207;34725712;34932366;35008409;35051231;35083852;35138101;35251023;35318648;35494241;35580925;36010968;36241641;36284347;36302773;36581221;36610391;37217939;37340992;37938771;38665916;38736402;39990658;40914422;429297;592398;592399;6300843;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8433567;8586453;8706699;8760291;8764073;8890909;8943342;9045610;9211906;9396609;9431993;9482744;9581863;9582194;9631292;9637248;9712840;9718729;9732867;9857202;9931503", "class_list": "", "function": "(Microbial infection) Acts as a receptor for bacteria., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for the Adeno-associated viruses 2,3,8 and 9., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for the Dengue virus., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for the Sindbis virus., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for the Venezuelan equine encephalitis virus., [UniProtKB, PubMed]; (Microbial infection) Acts as a receptor for the pathogenic prion protein., [UniProtKB, PubMed, PubMed]; LAMR1 restricts Zika virus infection by attenuating the envelope protein ubiquitination., [RefSeq, PubMed]; Laminin receptor 1 expression in premalignant and malignant squamous lesions of the cervix., [RefSeq, PubMed]; Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Many of the effects of laminin are mediated through interactions with cell surface receptors. These receptors include members of the integrin family, as well as non-integrin laminin-binding proteins. This gene encodes a high-affinity, non-integrin family, laminin receptor 1. This receptor has been variously called 67 kD laminin receptor, 37 kD laminin receptor precursor (37LRP) and p40 ribosome-associated protein. The amino acid sequence of laminin receptor 1 is highly conserved through evolution, suggesting a key biological function. It has been observed that the level of the laminin receptor transcript is higher in colon carcinoma tissue and lung cancer cell line than their normal counterparts. Also, there is a correlation between the upregulation of this polypeptide in cancer cells and their invasive and metastatic phenotype. Multiple copies of this gene exist, however, most of them are pseudogenes thought to have arisen from retropositional events. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; 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. Acts as a PPP1R16B-dependent substrate of PPP1CA., [UniProtKB, PubMed, HAMAP, PubMed, UniProtKB, UniProtKB]; Ribosomal protein SA is a common component of neuronal intranuclear inclusions in polyglutamine diseases and Marinesco bodies., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P11085;P12030;Q16471;Q6IPD1;Q6IPD2;Q6NSD1;Q6NXQ8;Q86VC0", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0043236 laminin binding;GO:0001618 virus receptor activity;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006412 translation;GO:0002181 cytoplasmic translation;GO:0000028 ribosomal small subunit assembly;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 36.0, "record_id": "P08865-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6T423-1", "uniprot_id": "S22AP_HUMAN", "mass": 61008.0, "length": 547, "protein_name": "Solute carrier family 22 member 25", "gene_name": "SLC22A25", "organism": "Human", "refseq_name": "solute carrier family 22 member 25 isoform a", "refseq_ac": "NP_955384", "gene_names_uniprotkb": "SLC22A25; UST6", "gene_names_refseq": "HIMTP; SLC22A25; UST6", "protein_names_uniprotkb": "Solute carrier family 22 member 25; Organic anion transporter UST6", "protein_names_refseq": "MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750; organic anion transporter UST6; putative UST1-like organic anion transporter; solute carrier family 22 member 25 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:387601)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;15054140;18466105;28849223;35051231", "class_list": "", "function": "Cloning of a novel human slc22 family member, UST6, expressed exclusively in liver in both embryo and adult, is reported [UST6] Review article, [RefSeq, PubMed]; Review summarizes current knowledge on the functional and phenotypic consequences of genetic variation in intestinally, hepatically and renally expressed members of solute carrier family (SLC) member 25. Review article, [RefSeq, PubMed]; TNFSF13, SPATC1L, SLC22A25 and SALL4 may thus be novel susceptibility loci for atrial fibrillation in the Japanese population, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4FU27", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0015711 organic anion transport", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6T423-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UJJ7-1", "uniprot_id": "RUSD1_HUMAN", "mass": 34756.0, "length": 312, "protein_name": "Pseudouridylate synthase RPUSD1", "gene_name": "RPUSD1", "organism": "Human", "refseq_name": "RNA pseudouridylate synthase domain-containing protein 1 isoform 1", "refseq_ac": "NP_478072", "gene_names_uniprotkb": "RPUSD1; C16orf40; RLUCL", "gene_names_refseq": "C16orf40; RLUCL; RPUSD1", "protein_names_uniprotkb": "Pseudouridylate synthase RPUSD1; 5.4.99.-; RNA pseudouridylate synthase domain-containing protein 1; Ribosomal large subunit pseudouridine synthase C-like protein", "protein_names_refseq": "RNA pseudouridylate synthase domain containing 1; RNA pseudouridylate synthase domain-containing protein 1 isoform 1; RNA pseudouridylate synthase domain-containing protein 1; ribosomal large subunit pseudouridine synthase C-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:113000)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;25418920;25880248;26811146;26992070;27846572;28063628;28904123;29557506;29632046;30315122;30484775;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32983136;33141586;33298915;33392160;33717175;33912179;33936100;34171305;34211107;34357683;34932366;35051231;35580925;37938771;41136621;41698914", "class_list": "", "function": "Pseudouridylate synthase that catalyzes the conversion of uridine to pseudouridine in cytoplasmic tRNAs. Catalyzes pseudouridylation of pseudouridine-30 and pseudouridine-72 from uracil-30 and uracil-72 within the anticodon stem of cytoplasmic tRNAs., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DU66", "ec_number_list": "5.4.99.-;5.4.99.42;5.4.99.28;5.4.99.25;5.4.99.12", "go_molecular_function": "GO:0003723 RNA binding;GO:0009982 pseudouridine synthase activity", "go_cellular_component": "", "go_biological_process": "GO:0000455 enzyme-directed rRNA pseudouridine synthesis;GO:0001522 pseudouridine synthesis", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9UJJ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H0K4-1", "uniprot_id": "RSH6A_HUMAN", "mass": 80913.0, "length": 717, "protein_name": "Radial spoke head protein 6 homolog A", "gene_name": "RSPH6A", "organism": "Human", "refseq_name": "radial spoke head protein 6 homolog A", "refseq_ac": "NP_110412", "gene_names_uniprotkb": "RSPH6A; RSHL1", "gene_names_refseq": "RSHL1; RSP4; RSP6; RSPH4B; RSPH6A", "protein_names_uniprotkb": "Radial spoke head protein 6 homolog A; Radial spoke head-like protein 1", "protein_names_refseq": "ortholog of mouse radial spokehead-like 1; radial spoke head protein 6 homolog A; radial spoke head-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81492)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11230166;11237011;35051231;36010968", "class_list": "", "function": "Functions as part of radial spoke complexes in the axoneme of sperm flagella that play an important part in motility. The triple radial spokes (RS1, RS2 and RS3) are required to modulate beating of the sperm flagellum., [UniProtKB, UniProtKB]; The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [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": "Q53FE2;Q6PEZ9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0097729 9+2 motile cilium;GO:0001535 radial spoke head;GO:0001534 radial spoke", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement;GO:0035082 axoneme assembly;GO:1905199 manchette disassembly;GO:0120316 sperm flagellum assembly", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9H0K4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00442-1", "uniprot_id": "RTCA_HUMAN", "mass": 39337.0, "length": 366, "protein_name": "RNA 3'-terminal phosphate cyclase", "gene_name": "RTCA", "organism": "Human", "refseq_name": "RNA 3'-terminal phosphate cyclase isoform a", "refseq_ac": "NP_001124313", "gene_names_uniprotkb": "RTCA; RPC1; RPC; RTC1; RTCD1", "gene_names_refseq": "RPC; RTC1; RTCA; RTCD1", "protein_names_uniprotkb": "RNA 3'-terminal phosphate cyclase; 6.5.1.4; RNA cyclase; RNA terminal phosphate cyclase domain-containing protein 1; RNA-3'-phosphate cyclase; RTC domain-containing protein 1", "protein_names_refseq": "RNA 3'-terminal phosphate cyclase isoform a; RNA terminal phosphate cyclase domain 1; RNA terminal phosphate cyclase domain-containing protein 1; RTC domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8634)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;19690099;20068231;2199762;23481700;25418920;25576301;25645385;25961792;26375851;26992070;28832583;29242379;29393594;30315122;30355738;30524438;30779550;31844290;32157095;32350084;32357974;32502341;32897882;32938616;33298915;33912179;33968037;33981976;34019948;34229054;35051231;35251023;35580925;36010968;36215666;40914422;9184239", "class_list": "", "function": "CNP and RtcA fine-tune XBP1 output during ER stress, [RefSeq, PubMed]; Catalyzes the conversion of 3'-phosphate to a 2',3'-cyclic phosphodiester at the end of RNA (PubMed:9184239). The mechanism of action of the enzyme occurs in 3 steps: (A) adenylation of the enzyme by ATP; (B) transfer of adenylate to an RNA-N3'P to produce RNA-N3'PP5'A; (C) and attack of the adjacent 2'-hydroxyl on the 3'-phosphorus in the diester linkage to produce the cyclic end product (PubMed:9184239). Likely functions in some aspects of cellular RNA processing (PubMed:25961792, PubMed:9184239). Function plays an important role in regulating axon regeneration by inhibiting central nervous system (CNS) axon regeneration following optic nerve injury (PubMed:25961792)., [UniProtKB, PubMed, PubMed]; Rtc1 forms a stable binary complex with a 3'-phosphate terminated RNA, but not with an identical 3'-OH terminated RNA, [RefSeq, PubMed]; This gene encodes a member of the RNA 3'-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3'-phosphate of RNA substrates to a 2',3'-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 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": "Q5VVL5;Q5VVL6;Q96E99", "ec_number_list": "6.5.1.4", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0003963 RNA-3'-phosphate cyclase activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006396 RNA processing;GO:1905592 negative regulation of optical nerve axon regeneration", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "O00442-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75298-1", "uniprot_id": "RTN2_HUMAN", "mass": 59264.0, "length": 545, "protein_name": "Reticulon-2", "gene_name": "RTN2", "organism": "Human", "refseq_name": "reticulon-2 isoform A", "refseq_ac": "NP_005610", "gene_names_uniprotkb": "RTN2; NSPL1", "gene_names_refseq": "HMNR11; NSP2; NSPL1; NSPLI; RTN2; SPG12", "protein_names_uniprotkb": "Reticulon-2; NSP-like protein 1; NSP-like protein I; NSPLI; Neuroendocrine-specific protein-like 1; Neuroendocrine-specific protein-like I", "protein_names_refseq": "NSP-like protein 1; NSP-like protein I; neuroendocrine-specific protein-like I; reticulon-2 isoform A", "tax_id": 9606, "disease": "hereditary spastic paraplegia 12 (Disease Ontology:DOID:0110765); hereditary spastic paraplegia (Disease Ontology:DOID:2476); neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity (MONDO:MONDO:0971150)", "pathway": " (hsa:6253)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;12832288;15286784;15345747;22232211;24715725;25418920;25612671;26154972;26375851;27165006;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;29769354;30484775;31844290;32157095;32502341;32938616;33298915;33968037;35051231;35684947;36177918;36284347;37196774;38527963;9530622;9693037", "class_list": "", "function": "Discusses cloning of mouse neuroendocrine-specific protein-like 1, in addition to partial cloning of the human ortholog. Also studies expression of both the mouse and human genes., [RefSeq, PubMed]; Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity (PubMed:15286784). Enhances trafficking of the glutamate transporter SLC1A1/EAAC1 from the endoplasmic reticulum to the cell surface (By similarity). Plays a role in the translocation of SLC2A4/GLUT4 from intracellular membranes to the cell membrane which facilitates the uptake of glucose into the cell (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12., [RefSeq, PubMed]; O-GlcNAcylation enhances Reticulon 2 protein stability and its promotive effects on gastric cancer progression., [RefSeq, PubMed]; RTN2, a new member of circadian clock genes identified by database mining and bioinformatics prediction, is highly expressed in ovarian cancer., [RefSeq, PubMed]; This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an important role in the replication of positive-strand RNA (ssRNA) viruses. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Aug 2020]., [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O60509;Q7RTM6;Q7RTN1;Q7RTN2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0009986 cell surface;GO:0014069 postsynaptic density;GO:0005789 endoplasmic reticulum membrane;GO:0005882 intermediate filament", "go_biological_process": "GO:0046324 regulation of D-glucose import;GO:1902430 negative regulation of amyloid-beta formation;GO:0007420 brain development;GO:0030182 neuron differentiation;GO:0065002 intracellular protein transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "O75298-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75446-1", "uniprot_id": "SAP30_HUMAN", "mass": 23306.0, "length": 220, "protein_name": "Histone deacetylase complex subunit SAP30", "gene_name": "SAP30", "organism": "Human", "refseq_name": "histone deacetylase complex subunit SAP30", "refseq_ac": "NP_003855", "gene_names_uniprotkb": "SAP30", "gene_names_refseq": "SAP30", "protein_names_uniprotkb": "Histone deacetylase complex subunit SAP30; 30 kDa Sin3-associated polypeptide; Sin3 corepressor complex subunit SAP30; Sin3-associated polypeptide p30", "protein_names_refseq": "30 kDa Sin3-associated polypeptide; Sin3 corepressor complex subunit SAP30; Sin3-associated polypeptide, 30kDa; Sin3A-associated protein, 30kDa; histone deacetylase complex subunit SAP30; sin3-associated polypeptide p30; sin3-associated polypeptide, 30 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:8819); (R-HSA-3214815); (R-HSA-427413); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 115, "publication_id_list": "10087012;10444591;10449787;10471499;10748112;10904264;10922406;10926844;11509652;11739383;11742974;11909966;12032298;12670868;12724404;14610093;15302935;15496587;16115318;16522641;17081983;17211407;17355984;17662961;18452278;18669648;18691976;19223330;19413330;19651622;19690332;19838300;20068231;20223979;21221920;21406692;21587264;22401777;22552008;22645359;22814904;23186163;23345538;23641311;24272870;24584101;24714562;25418920;25576301;25755297;25801024;25916849;26002965;26101246;26154972;26375851;26728094;26758079;26992070;27397612;27846572;27862975;27920218;28063628;28218747;28228285;28425720;28832583;29242379;29393594;29437277;29508533;29632046;29945920;29989576;30201761;30315122;30410026;30429286;30524438;30833945;31048504;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32488085;32897882;32983136;33141586;33298915;33592498;33936100;34019948;34932366;35051231;35154160;35580925;36010968;36302855;37655663;37938771;38154101;7513682;7597036;9150135;9651585;9702189;9790534", "class_list": "", "function": "(Microbial infection) Involved in transcriptional repression of HHV-1 genes TK and gC., [UniProtKB, PubMed]; Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]., [RefSeq]; Involved in the functional recruitment of the Sin3-histone deacetylase complex (HDAC) to a specific subset of N-CoR corepressor complexes. Capable of transcription repression by N-CoR. Active in deacetylating core histone octamers (when in a complex) but inactive in deacetylating nucleosomal histones., [UniProtKB, UniProtKB, PubMed]; Reveal the correlation between hub hypoxia/immune-related genes and immunity and diagnosis, and the effect of SAP30 on cell apoptosis, ROS and MDA production in cerebral ischemic stroke., [RefSeq, PubMed]; SAP30 promotes breast tumor progression by bridging the transcriptional corepressor SIN3 complex and MLL1. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting UHRF1-SAP30-MXD4 axis for leukemia initiating cell eradication in myeloid leukemia., [RefSeq, PubMed]; Upregulation of NETO2 gene is first stipulated by the isoform 1 (NM_018092.4), and the probable mechanism of its activation is associated with the increased expression of SAP30 transcription factor., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 4, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DP38", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902455 negative regulation of stem cell population maintenance;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "O75446-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P02743-1", "uniprot_id": "SAMP_HUMAN", "mass": 25387.0, "length": 223, "protein_name": "Serum amyloid P-component", "gene_name": "APCS", "organism": "Human", "refseq_name": "serum amyloid P-component precursor", "refseq_ac": "NP_001630", "gene_names_uniprotkb": "APCS; PTX2", "gene_names_refseq": "APCS; HEL-S-92n; PTX2; SAP", "protein_names_uniprotkb": "Serum amyloid P-component; 9.5S alpha-1-glycoprotein; SAP", "protein_names_refseq": "9.5S alpha-1-glycoprotein; epididymis secretory sperm binding protein Li 92n; pentaxin-related; pentraxin-2; pentraxin-related; serum amyloid P-component precursor; serum amyloid P-component", "tax_id": 9606, "disease": "amyloidosis (Disease Ontology:DOID:9120)", "pathway": " (hsa:325); (R-HSA-977225)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10097139;10319874;10391242;10411933;10583407;10956649;11278841;11401442;11467836;11590439;118839;12126626;12454989;1270801;14506261;14567678;1477104;15064394;15174148;15489334;15962837;1602151;16036920;16174740;16335952;16710414;16799559;16959974;17425515;18065497;18070888;1837051;18449172;18484335;1849145;19011241;19159218;19413330;19658395;19828817;20676056;20807650;21081667;2118650;21269460;2195544;22065755;22131221;22299025;23090970;23813966;2409350;24275569;24833601;24893886;25523424;26018760;26417681;26668317;26686862;26807092;27397612;27726376;27862975;279930;28098450;28434325;2900981;29557506;29741879;29786170;29789417;2987268;30115740;3029048;3035556;30459171;3053705;3080684;30862745;3094007;3142462;32157095;32296183;32814053;35051231;36243399;3675579;36884186;37074911;37349331;4055725;8033412;8097946;8114934;8159701;81686;8202534;8464497;8490014;8870004;9006323;9054935;9217261;9862427", "class_list": "", "function": "Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells. May also function as a calcium-dependent lectin., [UniProtKB]; Local Pentraxin-2 Deficit Is a Feature of Intestinal Fibrosis in Crohn's Disease., [RefSeq, PubMed]; Proteomic-based identification of APCS as candidate protein for diagnosis of patients exhibiting anti-tubercular drug induced liver injury. Publication Status: Online-Only, [RefSeq, PubMed]; SAP deficiency aggravates periodontitis possibly via C5a-C5aR signaling-mediated defective macrophage phagocytosis of Porphyromonas gingivalis., [RefSeq, PubMed]; The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [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": 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": 9, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0051082 unfolded protein binding;GO:0005509 calcium ion binding;GO:0030246 carbohydrate binding;GO:0001849 complement component C1q complex binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0045087 innate immune response;GO:0002674 negative regulation of acute inflammatory response;GO:0006953 acute-phase response;GO:0006457 protein folding;GO:0048525 negative regulation of viral process", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P02743-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7Q6-1", "uniprot_id": "S35G6_HUMAN", "mass": 35103.0, "length": 338, "protein_name": "Solute carrier family 35 member G6", "gene_name": "SLC35G6", "organism": "Human", "refseq_name": "solute carrier family 35 member G6", "refseq_ac": "NP_001096084", "gene_names_uniprotkb": "SLC35G6; AMAC1L3; TMEM21B", "gene_names_refseq": "AMAC1L3; SLC35G6; TMEM21B", "protein_names_uniprotkb": "Solute carrier family 35 member G6; Acyl-malonyl-condensing enzyme 1-like protein 3; Transmembrane protein 21B", "protein_names_refseq": "acyl-malonyl condensing enzyme 1-like 3; acyl-malonyl-condensing enzyme 1-like protein 3; protein AMAC1L3; solute carrier family 35 member G6; transmembrane protein 21B", "tax_id": 9606, "disease": "", "pathway": " (hsa:643664)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "17101974;18950845;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0C7Q6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P31949-1", "uniprot_id": "S10AB_HUMAN", "mass": 11740.0, "length": 105, "protein_name": "Protein S100-A11", "gene_name": "S100A11", "organism": "Human", "refseq_name": "protein S100-A11", "refseq_ac": "NP_005611", "gene_names_uniprotkb": "S100A11; MLN70; S100C", "gene_names_refseq": "HEL-S-43; MLN70; S100A11; S100C", "protein_names_uniprotkb": "Protein S100-A11; Calgizzarin; MLN 70; Metastatic lymph node gene 70 protein; Protein S100-C; S100 calcium-binding protein A11", "protein_names_refseq": "MLN 70; calgizzarin; epididymis secretory protein Li 43; metastatic lymph node gene 70 protein; protein S100-A11; protein S100-C", "tax_id": 9606, "disease": "", "pathway": " (hsa:6282); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10851017;1286667;14623863;16964243;17081983;17145369;18083107;18618420;18669648;19608861;19901323;20068231;23186163;23301498;23650620;24275569;24366607;26374642;26375851;26992070;27452731;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29786170;29789417;30192525;30397120;30410026;30429286;30444036;30484775;30779550;31154438;31217245;31222486;31530632;31611695;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33091337;33141586;33214551;33392160;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34357683;34405274;34509645;35051231;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36860671;37217939;37938771;38129538;38286714;38341855;38665916;38766816;7490069;7889529;8692836", "class_list": "", "function": "Downregulation of S100A11 promotes T cell infiltration by regulating cancer-associated fibroblasts in prostate cancer. Erratum:[Int Immunopharmacol. 2025 Oct 10;163:115415. doi: 10.1016/j.intimp.2025.115415. PMID: 40883196], [RefSeq, PubMed]; Exploring the prognostic value of S100A11 and its association with immune infiltration in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Extracellular-vesicle-packaged S100A11 from osteosarcoma cells mediates lung premetastatic niche formation by recruiting gMDSCs., [RefSeq, PubMed]; Facilitates the differentiation and the cornification of keratinocytes., [UniProtKB, PubMed]; Involvement of S100A6/S100A11 in T-Cell Immune Regulatory in HCC Revealed by Single Cell RNA-seq., [RefSeq, PubMed]; S100A11 Promotes Metastasis via AKT and ERK Signaling Pathways and Has a Diagnostic Role in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. [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": 8, "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": "Q5VTK0", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0044548 S100 protein binding;GO:0098641 cadherin binding involved in cell-cell adhesion", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0014911 positive regulation of smooth muscle cell migration;GO:0008156 negative regulation of DNA replication", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P31949-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P33763-1", "uniprot_id": "S10A5_HUMAN", "mass": 10744.0, "length": 92, "protein_name": "Protein S100-A5", "gene_name": "S100A5", "organism": "Human", "refseq_name": "protein S100-A5", "refseq_ac": "NP_002953", "gene_names_uniprotkb": "S100A5; S100D", "gene_names_refseq": "S100A5; S100D", "protein_names_uniprotkb": "Protein S100-A5; Protein S-100D; S100 calcium-binding protein A5", "protein_names_refseq": "protein S100-A5", "tax_id": 9606, "disease": "", "pathway": " (hsa:6276)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10882717;19536568;28017722;29240404;33528559;33968037;8341667", "class_list": "", "function": "Binds calcium, zinc and copper. One subunit can simultaneously bind 2 calcium ions or 2 copper ions plus 1 zinc ion. Calcium and copper ions compete for the same binding sites., [UniProtKB, PubMed]; Homodimeric solution structures of S100A5 in both apo & Ca(II)-loaded forms were obtained & show conformational rearrangement on Ca binding. Also, large mobility was observed in hinge loop of apo-S100A5; this mobility was not quenched in Ca form., [RefSeq, PubMed]; Isothermal titration calorimetry measured the binding of peptides with diverse sequence and biochemistry to human S100A5 and S110A6. These proteins bound distinct, but overlapping, sets of peptide targets. A single historical mutation, when reverted in human S100A5, gave it the ability to bind an S100A6-specific peptide. The specificity of S100 peptide interfaces is likely important for the biology of these proteins., [RefSeq, PubMed]; S100A5 employs the periphery of the dimer interface to interact with RAGE-v, [RefSeq, PubMed]; The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has a Ca2+ affinity 20- to 100-fold higher than the other S100 proteins studied under identical conditions. This protein also binds Zn2+ and Cu2+, and Cu2+ strongly which impairs the binding of Ca2+. This protein is expressed in very restricted regions of the adult brain. [provided by RefSeq, Jul 2008]., [RefSeq]; Were Ancestral Proteins Less Specific?, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q52LE7;Q5RHS3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0005507 copper ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0043025 neuronal cell body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P33763-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P59025-1", "uniprot_id": "RTP1_HUMAN", "mass": 30913.0, "length": 263, "protein_name": "Receptor-transporting protein 1", "gene_name": "RTP1", "organism": "Human", "refseq_name": "receptor-transporting protein 1", "refseq_ac": "NP_714919", "gene_names_uniprotkb": "RTP1; Z3CXXC1", "gene_names_refseq": "RTP1; Z3CXXC1", "protein_names_uniprotkb": "Receptor-transporting protein 1; 3CxxC-type zinc finger protein 1", "protein_names_refseq": "3CxxC-type zinc finger protein 1; receptor (chemosensory) transporter protein 1; receptor-transporting protein 1; zinc finger, 3CxxC-type 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:132112); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15550249;16720576;16959974;22570474;24800820;27515280;28325891;28586385;31395660;31974307;32066986", "class_list": "", "function": "Further cell-surface and permeabilized immunocytochemical studies revealed that odorant receptors (ORs) and the co-expressed RTP1S proteins were retained in the Golgi when co-transfected with RTP2, indicating that RTP1S and RTP2 could play different roles in the OR trafficking process. Publication Status: Online-Only, [RefSeq, PubMed]; RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of taste receptor gene expression., [RefSeq, PubMed]; Receptor-transporting protein 1 short (RTP1S) mediates translocation and activation of odorant receptors by acting through multiple steps, [RefSeq, PubMed]; Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs., [UniProtKB]; Taken together, these results demonstrate DYNC1H1 as a strong candidate and RTP1 as a potential candidate on the onset of epileptic encephalopathies. Publication Status: Online-Only, [RefSeq, PubMed]; Using recombinant proteins and split luciferase assays in mammalian cells, we provided evidence for the dimer formation of RTP1S. Furthermore, we determined that the 2nd Cys residue is required for the efficient dimerization of RTP1S. Altogether, these findings provide insights into the mechanism for plasma membrane transport of odorant receptors (ORs) by RTP1S., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031849 olfactory receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0051205 protein insertion into membrane;GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P59025-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62847-1", "uniprot_id": "RS24_HUMAN", "mass": 15423.0, "length": 133, "protein_name": "Small ribosomal subunit protein eS24", "gene_name": "RPS24", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS24 isoform c", "refseq_ac": "NP_001017", "gene_names_uniprotkb": "RPS24", "gene_names_refseq": "DBA3; RPS24; S24; eS24", "protein_names_uniprotkb": "Small ribosomal subunit protein eS24; 40S ribosomal protein S24", "protein_names_refseq": "40S ribosomal protein S24; small ribosomal subunit protein eS24 isoform c; small ribosomal subunit protein eS24", "tax_id": 9606, "disease": "Diamond-blackfan anemia 3 (Disease Ontology:DOID:0111887); Diamond-Blackfan anemia (Disease Ontology:DOID:1339); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:6229); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 278, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17186470;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230666;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19691289;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;2210388;22174690;22190735;22195017;22223895;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25432065;25525153;25576301;25969445;26154972;26237581;26374642;26758079;26992070;27526673;27600516;28063628;28065601;28132843;28228285;28510447;28685749;28832583;28834231;28871256;28904123;29242379;29317506;29393594;29413899;29493099;29557506;29632046;29786170;29789417;30293783;30315122;30410026;30429286;30804176;30833945;31154438;31217245;31530632;31717259;31844290;31848261;32099016;32157095;32161166;32265295;32350084;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33080218;33091337;33141586;33188728;33214551;33268501;33289941;33298915;33392160;33479166;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34171305;34211107;34315815;34373319;34516797;34624207;34932366;35051231;35138101;35251023;35451652;35526384;35580925;36010968;36241641;36284347;36302773;36610391;37074911;37217939;38281767;38853173;40930100;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8647458;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Autophagy-dependent alternative splicing of ribosomal protein S24 produces a more stable isoform that aids in hypoxic cell survival., [RefSeq, PubMed]; Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for processing of pre-rRNA and maturation of 40S ribosomal subunits (PubMed:18230666). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for processing of pre-rRNA and maturation of 40S ribosomal subunits. 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., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Downregulated long intergenic non-coding RNA 00,174 represses malignant biological behaviors of lung cancer cells by regulating microRNA-584-3p/ribosomal protein S24 axis., [RefSeq, PubMed]; RPS24 alternative splicing is a marker of cancer progression and epithelial-mesenchymal transition. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E7EPK6;P16632;Q5T0P7;Q5T0P8;Q7Z3D1", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome;GO:0031369 translation initiation factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006412 translation;GO:0034101 erythrocyte homeostasis;GO:0006364 rRNA processing;GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 28.7, "record_id": "P62847-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62861-1", "uniprot_id": "RS30_HUMAN", "mass": 14390.0, "length": 133, "protein_name": "Ubiquitin-like FUBI-ribosomal protein eS30 fusion protein", "gene_name": "FAU", "organism": "Human", "refseq_name": "ubiquitin-like FUBI-ribosomal protein eS30 fusion protein precursor", "refseq_ac": "NP_001988", "gene_names_uniprotkb": "FAU", "gene_names_refseq": "FAU1; FAU; Fub1; Fubi; MNSFbeta; RPS30; S30; asr1; eS30", "protein_names_uniprotkb": "Ubiquitin-like FUBI-ribosomal protein eS30 fusion protein; 40S ribosomal protein S30; FAU ubiquitin like and ribosomal protein S30 fusion", "protein_names_refseq": "40S ribosomal protein S30; FAU ubiquitin-like and ribosomal protein S30; FAU-encoded ubiquitin-like protein; FBR-MuSV-associated ubiquitously expressed; Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived); monoclonal nonspecific suppressor factor beta; ribosomal protein S30; small ribosomal subunit protein eS30; ubiquitin-like FUBI-ribosomal protein eS30 fusion protein precursor; ubiquitin-like FUBI-ribosomal protein eS30 fusion protein; ubiquitin-like protein fubi and ribosomal protein S30; ubiquitin-like-S30 fusion protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:2197); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 254, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12860195;1326960;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15104674;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17145369;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21550398;22072790;22174690;22190735;22195017;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23746841;2388630;24424021;24524803;24550520;24714562;25132172;25242263;25418920;25432065;25525153;25645385;25802875;25969445;26237581;26728094;26929215;27526673;27920218;28063628;28065601;28132843;28218747;28228285;28685749;28723557;28832583;28834231;28860189;29242379;29393594;29413899;29632046;29632711;29786170;29789417;30293783;30429286;30573663;30779550;30804176;30833945;31092671;31154438;31373491;31530632;31844290;31848261;31998317;32099016;32157095;32161166;32265295;32579943;32680882;32908316;32995776;32995777;33009412;33043033;33080218;33188728;33214551;33268501;33326956;33479166;34019948;34185709;34229054;34315815;34318747;34373319;34589082;34624207;36215666;36284347;36302773;36610391;37217939;37938771;38665916;40930100;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8268130;8336711;8395683;8407925;8706699;8813735;8890909;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the 40S subunit of the ribosome. Contributes to the assembly and function of 40S ribosomal subunits., [UniProtKB, PubMed, PubMed]; MNSFbeta Promotes the Proliferation and Migration of Human Extravillous Trophoblast Cells and the Villus Expression Level of MNSFbeta Is Decreased in Recurrent Miscarriage Patients., [RefSeq, PubMed]; MNSFbeta Regulates TNFalpha Production by Interacting with RC3H1 in Human Macrophages, and Dysfunction of MNSFbeta in Decidual Macrophages Is Associated With Recurrent Pregnancy Loss. Publication Status: Online-Only, [RefSeq, PubMed]; May have pro-apoptotic activity., [UniProtKB, PubMed]; Processing of the ribosomal ubiquitin-like fusion protein FUBI-eS30/FAU is required for 40S maturation and depends on USP36. Publication Status: Online-Only, [RefSeq, PubMed]; The C-terminal portion of the encoded protein displays antimicrobial activity against B. megaterium., [RefSeq, PubMed]; This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome and displays antimicrobial activity. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Nov 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P35544;Q05472;Q95261;Q9H5V4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome;GO:0031386 protein tag activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0016567 protein ubiquitination;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 25.7, "record_id": "P62861-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P82664-1", "uniprot_id": "RT10_HUMAN", "mass": 22999.0, "length": 201, "protein_name": "Small ribosomal subunit protein uS10m", "gene_name": "MRPS10", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS10m isoform 2", "refseq_ac": "NP_060611", "gene_names_uniprotkb": "MRPS10; MSTP040", "gene_names_refseq": "MRP-S10; MRPS10; PNAS-122; S10mt; uS10m", "protein_names_uniprotkb": "Small ribosomal subunit protein uS10m; 28S ribosomal protein S10, mitochondrial; MRP-S10; S10mt", "protein_names_refseq": "28S ribosomal protein S10, mitochondrial; mitochondrial 28S ribosomal protein S10; mitochondrial small ribosomal subunit protein uS10m; small ribosomal subunit protein uS10m isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55173); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9837999); (R-HSA-9937383)", "pathway_count": 6, "publication_count": 73, "publication_id_list": "10938081;11237011;11923310;12198491;14623864;15358359;15522782;15870080;16115876;17101804;17297443;17579211;17803939;18429816;18782833;19524667;19716793;19841671;20068231;20186120;20877624;21907147;22172991;22262461;2250005;22710082;23201127;23931759;24315374;24520911;25233460;25838379;25892735;26504172;26923599;27029019;27496948;27642048;28377575;28396416;28514659;28832583;28892042;29242379;29301859;29393594;29769354;29932645;30120231;30315122;30429286;31327635;31695197;31844290;31848261;32157095;32387766;32938616;33243891;33257573;33298915;33878294;33912179;34509645;34704252;34943861;35051231;35870450;36302763;36596788;36629048;37141370;7623837", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B2RE89;Q9H3E5;Q9NVR3", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P82664-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P82673-1", "uniprot_id": "RT35_HUMAN", "mass": 36844.0, "length": 323, "protein_name": "Small ribosomal subunit protein mS35", "gene_name": "MRPS35", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS35 isoform 2 precursor", "refseq_ac": "NP_001177793", "gene_names_uniprotkb": "MRPS35; HDCMD11P; MDS023; MRPS28; PSEC0213", "gene_names_refseq": "HDCMD11P; MDS023; MRP-S28; MRPS28; MRPS35; mS35", "protein_names_uniprotkb": "Small ribosomal subunit protein mS35; 28S ribosomal protein S28, mitochondrial; 28S ribosomal protein S35, mitochondrial; MRP-S28; MRP-S35; S28mt; S35mt", "protein_names_refseq": "28S ribosomal protein S28, mitochondrial; 28S ribosomal protein S35, mitochondrial; MRP-S35; S28mt; S35mt; mitochondrial ribosomal protein S28; mitochondrial small ribosomal subunit protein mS35; small ribosomal subunit protein mS35 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:60488); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 47, "publication_id_list": "11237011;11344316;15358359;16303743;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23481700;24715725;25233460;25576301;25838379;26992070;27029019;27452731;28510447;28832583;28892042;28904123;29393594;30192525;31217245;31844290;32157095;32488085;32897882;32983136;33141586;33243891;33878294;33912179;33936100;34357683;34561969;36302763;36596788;37141370;39103205;39894887;40914422", "class_list": "", "function": "Circular RNA circMRPS35 represses malignant progression in osteosarcoma cells via targeting miR-105-5p/FOXO1., [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q32LZ1;Q6P4C6;Q7L1M6;Q8NBP4;Q96AI0;Q9H044;Q9HC14;Q9P1R5", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P82673-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P82675-1", "uniprot_id": "RT05_HUMAN", "mass": 48006.0, "length": 430, "protein_name": "Small ribosomal subunit protein uS5m", "gene_name": "MRPS5", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS5m isoform a", "refseq_ac": "NP_114108", "gene_names_uniprotkb": "MRPS5", "gene_names_refseq": "MRP-S5; MRPS5; S5mt; uS5m", "protein_names_uniprotkb": "Small ribosomal subunit protein uS5m; 28S ribosomal protein S5, mitochondrial; MRP-S5; S5mt", "protein_names_refseq": "28S ribosomal protein S5, mitochondrial; mitochondrial 28S ribosomal protein S5; mitochondrial small ribosomal subunit protein uS5m; small ribosomal subunit protein uS5m isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:64969); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 64, "publication_id_list": "11237011;11279123;11402041;15358359;17803939;17924679;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;23481700;24715725;25233460;25802875;25838379;25892735;26154972;26992070;27029019;27846572;28510447;28892042;28904123;29437277;29493099;29557506;30237157;30379171;31844290;32157095;32357974;32387766;32502341;32897882;33141586;33243891;33298915;33392160;33592498;33717175;33878294;33936100;34171305;34211107;34229054;34357683;34405274;34509645;35051231;35154160;35580925;36010968;36241641;36284347;36302763;36596788;37141370;37938771;38253038;40596516", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]., [RefSeq]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB]; Mutation V336Y in MRPS5 confers mitoribosomal misreading in in organello translation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "Q4ZFY5;Q96LJ6;Q9BWI4;Q9BYC4", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome;GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:0005634 nucleus", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P82675-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P82912-1", "uniprot_id": "RT11_HUMAN", "mass": 20616.0, "length": 194, "protein_name": "Small ribosomal subunit protein uS11m", "gene_name": "MRPS11", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS11m isoform c", "refseq_ac": "NP_001308899", "gene_names_uniprotkb": "MRPS11; HCC2; RPMS11", "gene_names_refseq": "HCC-2; MRP-S11; MRPS11; S11mt; uS11m", "protein_names_uniprotkb": "Small ribosomal subunit protein uS11m; 28S ribosomal protein S11, mitochondrial; Cervical cancer proto-oncogene 2 protein; HCC-2; MRP-S11; S11mt", "protein_names_refseq": "28S ribosomal protein S11, mitochondrial; cervical cancer proto-oncogene 2 protein; mitochondrial small ribosomal subunit protein uS11m; small ribosomal subunit protein uS11m isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:64963); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 40, "publication_id_list": "11237011;11279123;11402041;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;25233460;25838379;26125709;26992070;27029019;28510447;28892042;29242379;29632711;30379171;31217245;31611695;31844290;31848261;32157095;32350084;33243891;33298915;33878294;33912179;33968037;34211107;36302763;36596788;37141370;37217939;40596516", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]., [RefSeq]; The downregulated gene with the largest effect size in ankylosing spondylitis was mitochondrial ribosomal protein S11 (MRPS11). (Meta-analysis) 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": 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": "B2RD52;Q969D7;Q96GI3;Q9BYC3", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "P82912-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P82914-1", "uniprot_id": "RT15_HUMAN", "mass": 29842.0, "length": 257, "protein_name": "Small ribosomal subunit protein uS15m", "gene_name": "MRPS15", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS15m", "refseq_ac": "NP_112570", "gene_names_uniprotkb": "MRPS15; DC37; RPMS15", "gene_names_refseq": "DC37; MPR-S15; MRPS15; RPMS15; S15mt; uS15m", "protein_names_uniprotkb": "Small ribosomal subunit protein uS15m; 28S ribosomal protein S15, mitochondrial; MRP-S15; S15mt", "protein_names_refseq": "28S ribosomal protein S15, mitochondrial; MRP-S15; mitochondrial small ribosomal subunit protein uS15m; small ribosomal subunit protein uS15m", "tax_id": 9606, "disease": "", "pathway": " (hsa:64960); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 71, "publication_id_list": "11279123;11402041;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;21907147;22172991;2250005;24714562;25233460;25502872;25576301;25838379;26728094;26992070;27029019;27184847;27600516;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28892042;28904123;29242379;29437277;29557506;29632046;29769354;29786170;30315122;30429286;30833945;31222486;31611695;31844290;31848261;31998317;32157095;32161166;32265295;32387766;32983136;33243891;33592498;33691108;33717175;33878294;33968037;33981976;34078123;34171305;34357683;34932366;35051231;35154160;35561310;35580925;36284347;36302763;36596788;37141370;38542224", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q. [provided by RefSeq, Jul 2008]., [RefSeq]; Mitochondrial Ribosomal Protein MRPS15 Is a Component of Cytosolic Ribosomes and Regulates Translation in Stressed Cardiomyocytes. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RD82;Q9H2K1", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P82914-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P82921-1", "uniprot_id": "RT21_HUMAN", "mass": 10689.0, "length": 87, "protein_name": "Small ribosomal subunit protein bS21m", "gene_name": "MRPS21", "organism": "Human", "refseq_name": "small ribosomal subunit protein bS21m", "refseq_ac": "NP_061870", "gene_names_uniprotkb": "MRPS21; MDS016; RPMS21", "gene_names_refseq": "MDS016; MRP-S21; MRPS21; RPMS21; bS21m", "protein_names_uniprotkb": "Small ribosomal subunit protein bS21m; 28S ribosomal protein S21, mitochondrial; MRP-S21; S21mt", "protein_names_refseq": "28S ribosomal protein S21, mitochondrial; S21mt; mitochondrial 28S ribosomal protein S21; mitochondrial small ribosomal subunit protein bS21m; small ribosomal subunit protein bS21m", "tax_id": 9606, "disease": "", "pathway": " (hsa:54460); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 56, "publication_id_list": "11279123;11402041;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23481700;25233460;25418920;25645385;25838379;26929215;27029019;27600516;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28892042;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;31154438;31844290;31848261;32157095;32161166;32502341;32938616;33243891;33691108;33717175;33878294;33912179;35051231;35580925;36284347;36302763;36596788;37141370", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A0A075B746;Q5TB11;Q9BST6", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P82921-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16799-1", "uniprot_id": "RTN1_HUMAN", "mass": 83618.0, "length": 776, "protein_name": "Reticulon-1", "gene_name": "RTN1", "organism": "Human", "refseq_name": "reticulon-1 isoform A", "refseq_ac": "NP_066959", "gene_names_uniprotkb": "RTN1; NSP", "gene_names_refseq": "NSP; RTN1", "protein_names_uniprotkb": "Reticulon-1; Neuroendocrine-specific protein", "protein_names_refseq": "neuroendocrine-specific protein; reticulon-1 isoform A", "tax_id": 9606, "disease": "hereditary spastic paraplegia 12 (Disease Ontology:DOID:0110765); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:6252)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;12873973;15286784;15922294;18088087;18707149;19415658;19664994;20058876;24275569;25612671;27452731;28657654;29557506;31154438;31844290;32387766;32928873;32938616;32983136;33592498;33968037;33981976;34087483;34171305;35051231;35469894;35580925;35747917;35804263;36223176;38253038;7685762;8833145;9560466", "class_list": "", "function": "CircRTN1 acts as a miR-431-5p sponge to promote thyroid cancer progression by upregulating TGFA., [RefSeq, PubMed]; Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Interoperability of RTN1A in dendrite dynamics and immune functions in human Langerhans cells. Publication Status: Online-Only, [RefSeq, PubMed]; Reticulon-1A mediates diabetic kidney disease progression through endoplasmic reticulum-mitochondrial contacts in tubular epithelial cells., [RefSeq, PubMed]; This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]., [RefSeq]; [The Expression of RTN1 in Lung Adenocarcinoma and Its Effect on Immune Microenvironment]., [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "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": "Q16800;Q16801;Q5BKZ4;Q9BQ59", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0014069 postsynaptic density;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:1902430 negative regulation of amyloid-beta formation;GO:0007420 brain development;GO:0030182 neuron differentiation;GO:0071787 endoplasmic reticulum tubular network formation;GO:1990809 endoplasmic reticulum tubular network membrane organization", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q16799-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3KQZ1-1", "uniprot_id": "S2535_HUMAN", "mass": 32438.0, "length": 300, "protein_name": "Solute carrier family 25 member 35", "gene_name": "SLC25A35", "organism": "Human", "refseq_name": "solute carrier family 25 member 35 isoform a", "refseq_ac": "NP_001307799", "gene_names_uniprotkb": "SLC25A35", "gene_names_refseq": "SLC25A35", "protein_names_uniprotkb": "Solute carrier family 25 member 35", "protein_names_refseq": "solute carrier family 25 member 35 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:399512)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "16949250;18682385;20877624;23266187;23481700;24715725;25576301;25645385;25880248;28832583;29557506;29769354;29786170;29930882;30315122;30429286;30484775;31844290;32157095;32357974;32502341;33592498;33912179;33981976;34171305;34185709;35051231;35318648;35580925;36284347", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Observational study of gene-disease association. 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1.14.11.-; Round spermatid basic protein 1-like protein", "protein_names_refseq": "lysine-specific demethylase RSBN1L; round spermatid basic protein 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:222194)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11237011;18991276;19413330;19608861;20068231;23186163;23301498;23481700;24366607;24397554;24714562;24715725;25114211;25218447;25576301;25645385;25755297;25772364;26154972;26375851;26992070;27397612;27600516;27846572;27862975;27920218;28228285;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29351928;29393594;29485866;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30429286;30779550;31217245;31492838;31844290;31848261;32157095;32265295;32357974;32502341;32938616;32938750;32983136;33141586;33298915;33592498;33936100;33968037;33981976;34171305;34185709;34211107;34932366;35051231;35132862;35254053;35580925;36010968;36241641;36284347;36581221;39531497;39534244;40307207;40596516", "class_list": "", "function": "Lysine-specific demethylase that specifically demethylates methylated lysine residues of proteins., [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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "C9K0P1;Q6ZS58;Q6ZVI9;Q86X48", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0051213 dioxygenase activity;GO:0140457 protein demethylase activity", "go_cellular_component": "GO:0016607 nuclear speck", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q6PCB5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6PIV7-1", "uniprot_id": "S2534_HUMAN", "mass": 32224.0, "length": 304, "protein_name": "Solute carrier family 25 member 34", "gene_name": "SLC25A34", "organism": "Human", "refseq_name": "solute carrier family 25 member 34", "refseq_ac": "NP_997231", "gene_names_uniprotkb": "SLC25A34", "gene_names_refseq": "SLC25A34", "protein_names_uniprotkb": "Solute carrier family 25 member 34", "protein_names_refseq": "solute carrier family 25 member 34", "tax_id": 9606, "disease": "", "pathway": " (hsa:284723)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "16949250;18682385;20877624;23266187;25645385;27864352;36215666;38253038", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Putative antiporter that exchanges dicarboxylates and sulfur oxoanions across the inner membrane of mitochondria., [UniProtKB, PubMed]; SLC25A34 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]., [RefSeq]; The SLC25A34 transcript, based on single cell transcriptomics, is specific to the beta cells in the human islet., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q68DV0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005743 mitochondrial inner membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6PIV7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7L099-1", "uniprot_id": "RUFY3_HUMAN", "mass": 52965.0, "length": 469, "protein_name": "Protein RUFY3", "gene_name": "RUFY3", "organism": "Human", "refseq_name": "protein RUFY3 isoform 1", "refseq_ac": "NP_001032519", "gene_names_uniprotkb": "RUFY3; KIAA0871", "gene_names_refseq": "RIPX; RUFY3; SINGAR1; ZFYVE30", "protein_names_uniprotkb": "Protein RUFY3; RIPx; RUN and FYVE domain-containing protein 3; Rap2-interacting protein x; Singar; Single axon-regulated protein", "protein_names_refseq": "protein RUFY3 isoform 1; rap2 interacting protein x; single axon-regulated protein; single axon-related 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:22902)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;20376209;23301498;25576301;25766321;26154972;27862975;28623323;28904123;29242379;29786170;30379171;31217245;31547840;31844290;32157095;32387766;32488085;32938616;32983136;33298915;33968037;35018543;35314674;36010968;37797694;38915053", "class_list": "", "function": "ARL8 effector that promotes the coupling of endolysosomes to dynein-dynactin for retrograde transport along microtubules. Acts by binding both GTP-bound ARL8 and dynein-dynactin. In nonneuronal cells, promotes concentration of endolysosomes in the juxtanuclear area. In hippocampal neurons, drives retrograde transport of endolysosomes from the axon to the soma (PubMed:35314674). Plays a role in the generation of neuronal polarity formation and axon growth (By similarity). Implicated in the formation of a single axon by developing neurons (By similarity). May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes (By similarity). Plays a role in the formation of F-actin-enriched protrusive structures at the cell periphery (PubMed:25766321). Plays a role in cytoskeletal organization by regulating the subcellular localization of FSCN1 and DBN1 at axonal growth cones (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; CircSORBS1 inhibits lung cancer progression by sponging miR-6779-5p and directly binding RUFY3 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; HOXD9 directly associated with the RUFY3 promoter to increase the transcriptional activity of RUFY3 in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; HPIP and RUFY3 are noncanonical guanine nucleotide exchange factors of Rab5 to regulate endocytosis-coupled focal adhesion turnover., [RefSeq, PubMed]; Low RUFY3 expression level is associated with lymph node metastasis in older women with invasive breast cancer., [RefSeq, PubMed]; Our results uncovered a novel, unexpected regulatory function of RUFY3. We identified FOXK1 as a new RUFY3-binding protein. This study shed light on the critical role of RUFY3 in inducing EMT and in the migration and invasion phenotypes caused by abnormal FOXK1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Rab5(Q79L) interacts with the carboxyl terminus of RUFY3 Publication Status: Online-Only, [RefSeq, PubMed]; These findings provide important evidence that PAK1 can positively regulate RUFY3 expression, which contribute to the metastatic potential of gastric cancer cells Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B3KM25;B4DYW7;D9N163;O94948;Q9UI00", "ec_number_list": "", "go_molecular_function": "GO:0034452 dynactin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030027 lamellipodium;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0007015 actin filament organization;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q7L099-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z2H8-1", "uniprot_id": "S36A1_HUMAN", "mass": 53076.0, "length": 476, "protein_name": "Proton-coupled amino acid transporter 1", "gene_name": "SLC36A1", "organism": "Human", "refseq_name": "proton-coupled amino acid transporter 1 isoform b", "refseq_ac": "NP_001295079", "gene_names_uniprotkb": "SLC36A1; PAT1", "gene_names_refseq": "Dct1; LYAAT1; PAT1; SLC36A1; TRAMD3", "protein_names_uniprotkb": "Proton-coupled amino acid transporter 1; Proton/amino acid transporter 1; Solute carrier family 36 member 1; hPAT1", "protein_names_refseq": "lysosomal amino acid transporter 1; proton-coupled amino acid transporter 1 isoform b; proton-coupled amino acid transporter 1; proton/amino acid transporter 1; solute carrier family 36 (proton/amino acid symporter), member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:206358); (R-HSA-352230); (R-HSA-428559)", "pathway_count": 3, "publication_count": 45, "publication_id_list": "10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11827462;12202949;12527723;12809675;12930836;15058382;15151999;15659399;15918515;17897319;18195088;19409386;19549785;21097500;24652292;25502872;30253187;31555743;31848261;34357683;35580925;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9878049", "class_list": "", "function": "Electrogenic proton/amino acid symporter with selectivity for small apolar L-amino acids, their D-enantiomers and selected amino acid derivatives such as 4-aminobutanoate/GABA (PubMed:12527723, PubMed:12809675, PubMed:19549785). May be involved in the efflux from the lysosomal compartment of neutral amino acids resulting from proteolysis (By similarity). May play a role in specifying sites for exocytosis in neurons (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Increasing the PAT1 level does not readily increase the mTORC1 activity. The lysosomal PAT1 was increased by starvation and decreased by nutrient replenishment. The lysosomal PAT1 plays a negative role on the mTORC1 activity., [RefSeq, PubMed]; PAT1 expressed exclusively in apical membrane of Caco-2 cells. hPAT1 may be responsible for H(+)-coupled amino acid transport expressed in apical membrane of Caco-2 cells., [RefSeq, PubMed]; SLC36A1-mTORC1 signaling drives acquired resistance to CDK4/6 inhibitors. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "C9JI34;Q1LZ56;Q7Z7C0;Q86YK4;Q96M74", "ec_number_list": "", "go_molecular_function": "GO:0015180 L-alanine transmembrane transporter activity;GO:0015187 glycine transmembrane transporter activity;GO:0015193 L-proline transmembrane transporter activity;GO:0005280 amino acid:proton symporter activity;GO:0015171 amino acid transmembrane transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0016324 apical plasma membrane;GO:0005774 vacuolar membrane", "go_biological_process": "GO:0015816 glycine transport;GO:0032328 alanine transport;GO:0035524 proline transmembrane transport;GO:0006865 amino acid transport;GO:0015808 L-alanine transport", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q7Z2H8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86SG5-1", "uniprot_id": "S1A7A_HUMAN", "mass": 11305.0, "length": 101, "protein_name": "Protein S100-A7A", "gene_name": "S100A7A", "organism": "Human", "refseq_name": "protein S100-A7A", "refseq_ac": "NP_789793", "gene_names_uniprotkb": "S100A7A; S100A15; S100A7L1", "gene_names_refseq": "NICE-2; NICE2; S100A15; S100A7A; S100A7L1; S100A7f", "protein_names_uniprotkb": "Protein S100-A7A; S100 calcium-binding protein A15; S100 calcium-binding protein A7-like 1; S100 calcium-binding protein A7A", "protein_names_refseq": "S100 calcium-binding protein A15; S100 calcium-binding protein A7-like 1; koebnerisin; protein S100-A7A", "tax_id": 9606, "disease": "psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:338324); (R-HSA-6799990)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10026247;12664160;12923069;15299793;16682778;17625598;18606705;19810752;20068231;22747601;23276281;23431180;25597447;26375851;29485866;30379171;31092671", "class_list": "", "function": "E. coli modulates S100A15 and IL-8 expression of keratinocytes by recognition through TLR4., [RefSeq, PubMed]; May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases., [UniProtKB]; Molecular cloning and characterization of alternatively spliced S100A15 isoforms from psoriatic skin., [RefSeq, PubMed]; S100A15 retains the ability to coordinate zinc through incorporation of an exogenous ligand resulting in a unique zinc-binding site among S100 proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Study defines RAGE (receptor for advanced glycation end products) as the hS100A7 receptor, whereas hS100A15 functions through a Gi protein-coupled receptor, [RefSeq, PubMed]; The S100A15 protein has been expressed & purified to homogeneity in 2 crystal forms. Crystals of form I are triclinic. Crystals of form II are monoclinic & have a solvent content of 51.8%, corresponding to the presence of 1 monomer in the asymmetric unit., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DV38;Q5SY69", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0046914 transition metal ion binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0043542 endothelial cell migration", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q86SG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IVG5-1", "uniprot_id": "SAM9L_HUMAN", "mass": 184533.0, "length": 1584, "protein_name": "Sterile alpha motif domain-containing protein 9-like", "gene_name": "SAMD9L", "organism": "Human", "refseq_name": "sterile alpha motif domain-containing protein 9-like", "refseq_ac": "NP_001290425", "gene_names_uniprotkb": "SAMD9L; C7orf6; DRIF2; KIAA2005; UEF", "gene_names_refseq": "ATXPC; C7DELq; C7orf6; DEL7q; DRIF2; M7MLS1; MLSM7; SAMD9L; SCA49; UEF1", "protein_names_uniprotkb": "Sterile alpha motif domain-containing protein 9-like; SAM domain-containing protein 9-like", "protein_names_refseq": "SAM domain-containing protein 9-like; neutrophil migration; sterile alpha motif domain-containing protein 9-like", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441); ataxia-pancytopenia syndrome (MONDO:MONDO:0008038); monosomy 7 myelodysplasia and leukemia syndrome 1 (MONDO:MONDO:0009646); spinocerebellar ataxia 49 (MONDO:MONDO:0030805)", "pathway": " (hsa:219285)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11237011;17081983;17407603;23481700;24029230;24714562;24715725;25076857;25418920;25505266;25576301;25892735;26154972;26375851;26728094;26992070;27259050;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29237092;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30046003;30192525;30315122;30379171;30429286;30484775;30833945;31154438;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33298915;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34185709;34509645;34561969;34932366;35051231;35310830;35561310;35580925;36284347;36581221;36894052;37158533;37357006;37612499;37938771", "class_list": "", "function": "Functional Study of SAMD9L in Familial Gastric Cancer., [RefSeq, PubMed]; May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L., [RefSeq, PubMed]; The findings highlight a novel tumor-suppressive role of SAMD9L inactivation by somatic mutation and decreased expression in human HBV-related HCC Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]., [RefSeq]; Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants., [RefSeq, PubMed]; [Pancytopenia in children caused by SAMD9/9L mutation: 5 cases report and literature 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 53, "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": "A0JP23;A0JP24;A0PJG8;A4D1G8;D6W5Q6;Q2TV71;Q2TV75;Q2UZV8;Q8IWI4;Q8N3L9;Q8N875", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005769 early endosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q8IVG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IZ73-1", "uniprot_id": "RUSD2_HUMAN", "mass": 61311.0, "length": 545, "protein_name": "Pseudouridylate synthase RPUSD2", "gene_name": "RPUSD2", "organism": "Human", "refseq_name": "pseudouridylate synthase RPUSD2 isoform 2", "refseq_ac": "NP_001273336", "gene_names_uniprotkb": "RPUSD2; C15orf19", "gene_names_refseq": "C15orf19; C18B11; PUS9; RPUSD2", "protein_names_uniprotkb": "Pseudouridylate synthase RPUSD2; 5.4.99.-; 5.4.99.28; 5.4.99.42; RNA pseudouridylate synthase domain-containing protein 2", "protein_names_refseq": "C18B11 homolog (44.9kD); RNA pseudouridylate synthase domain containing 2; RNA pseudouridylate synthase domain-containing protein 2; pseudouridylate synthase RPUSD2 isoform 2; pseudouridylate synthase RPUSD2", "tax_id": 9606, "disease": "", "pathway": " (hsa:27079)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;17924679;18669648;19651622;19664995;20068231;23186163;24714562;25576301;25645385;25892735;26375851;26992070;28228285;28649982;28832583;28834231;28855257;28904123;29242379;29485866;29557506;29769354;30315122;30429286;30779550;31154438;31477916;31844290;31848261;32157095;32387766;32897882;33298915;33537174;33592498;33633747;33717175;33912179;33968037;34171305;34185709;34561969;35051231;35051350;35580925;36010968;36581221;37938771;41136621;41698914", "class_list": "", "function": "Pseudouridine synthase that catalyzes pseudouridylation of mRNAs (PubMed:31477916, PubMed:35051350). In addition, it catalyzes the formation of pseudouridine mainly at positions 31 and 32 in the anticodon loop of cytosolic and mitochondrial tRNAs, and at position 34 of certain cytosolic tRNAs such as tRNA(Ile) (PubMed:41136621, PubMed:41698914)., [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": 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": "B4DDD1;Q7L989;Q92939;Q96IA7;Q96N50", "ec_number_list": "5.4.99.25;5.4.99.-;5.4.99.42;5.4.99.28;5.4.99.12", "go_molecular_function": "GO:0003723 RNA binding;GO:0009982 pseudouridine synthase activity", "go_cellular_component": "", "go_biological_process": "GO:0000455 enzyme-directed rRNA pseudouridine synthesis;GO:0006397 mRNA processing;GO:1990481 mRNA pseudouridine synthesis", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8IZ73-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N2Y8-1", "uniprot_id": "RUSC2_HUMAN", "mass": 161225.0, "length": 1516, "protein_name": "AP-4 complex accessory subunit RUSC2", "gene_name": "RUSC2", "organism": "Human", "refseq_name": "AP-4 complex accessory subunit RUSC2 isoform 1", "refseq_ac": "NP_001129471", "gene_names_uniprotkb": "RUSC2; KIAA0375", "gene_names_refseq": "Iporin; MRT61; RUSC2", "protein_names_uniprotkb": "AP-4 complex accessory subunit RUSC2; Interacting protein of Rab1; Iporin; RUN and SH3 domain-containing protein 2", "protein_names_refseq": "AP-4 complex accessory subunit RUSC2 isoform 1; AP-4 complex accessory subunit RUSC2; RUN and SH3 domain-containing protein 2; interacting protein of Rab1", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 61 (Disease Ontology:DOID:0080239)", "pathway": " (hsa:9853)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "15796781;17081983;18220336;18669648;23186163;25576301;27238570;27612186;28904123;29242379;29557506;30262884;30379171;30429286;30905672;31154438;31199889;31844290;31848261;31932478;32157095;32488085;32744243;32938616;33298915;33592498;33968037;34357683;34432492;35051231;35254053;35580925;36010968;41350704", "class_list": "", "function": "Analysis of structural basis for effector recognition in Rab35/ACAP2 and Rab35/RUSC2 complexes, [RefSeq, PubMed]; Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network., [UniProtKB, PubMed]; Circ_RUSC2 upregulates the expression of miR-661 target gene SYK and regulates the function of vascular smooth muscle cells, [RefSeq, PubMed]; Conclude that Iporin might function as a link between the targeting of ER derived vesicles, triggered by the rab1 GTPase and a signaling pathway regulated by molecules containing SH3 and/or poly-proline regions Publication Status: Online-Only, [RefSeq, PubMed]; Crystal structure of the FYCO1 RUN domain suggests possible interfaces with small GTPases., [RefSeq, PubMed]; RUSC2 and EHD1 function in a common pathway to positively regulate the basal traffic of Epidermal growth factor receptor from the Golgi compartment to the cell surface to ensure optimal surface receptor levels for subsequent ligand-mediated activation and cellular responses. Publication Status: Online-Only, [RefSeq, PubMed]; RUSC2 and WDR47 oppositely regulate kinesin-1-dependent distribution of ATG9A to the cell periphery., [RefSeq, PubMed]; Short-term EGF stimulation if of lung tumor cells can increase the interaction between RUSC2 and GIT2, prolonged stimulation leads to a decrease of their interaction through activating Rab35., [RefSeq, PubMed]; This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]., [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": 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": 7, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A2RU62;A7E2A9;O15080;Q5W134;Q641Q6;Q6P1W7", "ec_number_list": "", "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0031410 cytoplasmic vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8N2Y8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TDM5-1", "uniprot_id": "SACA4_HUMAN", "mass": 13004.0, "length": 124, "protein_name": "Sperm acrosome membrane-associated protein 4", "gene_name": "SPACA4", "organism": "Human", "refseq_name": "sperm acrosome membrane-associated protein 4 precursor", "refseq_ac": "NP_598005", "gene_names_uniprotkb": "SPACA4; PRO9862; SAMP14", "gene_names_refseq": "SAMP14; SPACA4", "protein_names_uniprotkb": "Sperm acrosome membrane-associated protein 4; Sperm acrosomal membrane-associated protein 14", "protein_names_refseq": "sperm acrosomal membrane protein 14; sperm acrosomal membrane-associated protein 14; sperm acrosome membrane-associated protein 4 precursor; sperm acrosome membrane-associated protein 4; testicular tissue protein Li 167", "tax_id": 9606, "disease": "", "pathway": " (hsa:171169); (R-HSA-163125)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11072085;12788941;12975309;2443973;3422494;37377732;39894887", "class_list": "", "function": "SAMP14 represents a GPI-anchored putative receptor in the Ly-6/uPAR family that is exposed on the inner acrosomal membrane after the acrosome reaction., [RefSeq, PubMed]; Sperm surface membrane protein that is essential for effective sperm-zona pellucida binding and penetration during fertilization., [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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0001669 acrosomal vesicle;GO:0002079 inner acrosomal membrane", "go_biological_process": "GO:0035036 sperm-egg recognition;GO:0007155 cell adhesion;GO:0007339 binding of sperm to zona pellucida;GO:0009566 fertilization", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8TDM5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92737-1", "uniprot_id": "RSLAA_HUMAN", "mass": 22541.0, "length": 203, "protein_name": "Ras-like protein family member 10A", "gene_name": "RASL10A", "organism": "Human", "refseq_name": "ras-like protein family member 10A", "refseq_ac": "NP_006468", "gene_names_uniprotkb": "RASL10A; RRP22", "gene_names_refseq": "RASL10A; RRP22", "protein_names_uniprotkb": "Ras-like protein family member 10A; 3.6.5.2; Ras-like protein RRP22; Ras-related protein on chromosome 22", "protein_names_refseq": "ras-like protein RRP22; ras-like protein family member 10A; ras-related protein on chromosome 22", "tax_id": 9606, "disease": "", "pathway": " (hsa:10633)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "15833841;20646714;21264544;21631628;29557506;31154438;35051231;36088370;39894887;8975699", "class_list": "", "function": "Both 5'-CpG island hypermethylation and histone modifications contribute to the frequent and prognostically unfavorable transcriptional downregulation of RRP22 in malignant gliomas., [RefSeq, PubMed]; Chromosome 22 have specific motor deficits in axial stability and graphomotor skills., [RefSeq, PubMed]; Potent inhibitor of cellular proliferation., [UniProtKB, PubMed]; RRP22 is a special neural tumor suppressor for human astrocytomas, [RefSeq, PubMed]; RRP22 localizes to the nucleolus in a GTP-dependent manner and can serve as a potential tumor suppressor., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q49AU5;Q6PI03", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q92737-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96C34-1", "uniprot_id": "RUND1_HUMAN", "mass": 67643.0, "length": 613, "protein_name": "RUN domain-containing protein 1", "gene_name": "RUNDC1", "organism": "Human", "refseq_name": "RUN domain-containing protein 1 isoform 1", "refseq_ac": "NP_775102", "gene_names_uniprotkb": "RUNDC1; LP5161", "gene_names_refseq": "RUND1; RUNDC1", "protein_names_uniprotkb": "RUN domain-containing protein 1", "protein_names_refseq": "RUN domain-containing protein 1 isoform 1; RUN domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:146923)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;15498874;16929179;18669648;21406692;24715725;25502872;25576301;25880248;26154972;26992070;27846572;28832583;28904123;29242379;29393594;29557506;29632711;29789417;30315122;31217245;31844290;32157095;32357974;32387766;32502341;32938616;33141586;33298915;33392160;33912179;33936100;33968037;33981976;35051231;35580925;36010968", "class_list": "", "function": "May play a role as p53/TP53 inhibitor and thus may have oncogenic activity., [UniProtKB, PubMed]; This gene encodes a protein that contains a RUN (RPIP8, UNC-14 and NESCA) domain and a coiled coil domain. The encoded protein may negatively regulate p53 transcriptional activity. This gene is a potential candidate gene for predisposition to glioma in humans. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6Y2K8;Q8IXT9;Q8N3W1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q96C34-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CM3-1", "uniprot_id": "RUSD4_HUMAN", "mass": 42205.0, "length": 377, "protein_name": "Pseudouridylate synthase RPUSD4, mitochondrial", "gene_name": "RPUSD4", "organism": "Human", "refseq_name": "pseudouridylate synthase RPUSD4, mitochondrial isoform b", "refseq_ac": "NP_001138299", "gene_names_uniprotkb": "RPUSD4", "gene_names_refseq": "RPUSD4", "protein_names_uniprotkb": "Pseudouridylate synthase RPUSD4, mitochondrial; 5.4.99.-; RNA pseudouridylate synthase domain-containing protein 4", "protein_names_refseq": "RNA pseudouridylate synthase domain containing 4; RNA pseudouridylate synthase domain-containing protein 4; mitochondrial RNA pseudouridine synthase RPUSD4; pseudouridylate synthase RPUSD4, mitochondrial isoform b; pseudouridylate synthase RPUSD4, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:84881); (R-HSA-6793080); (R-HSA-9937008)", "pathway_count": 3, "publication_count": 65, "publication_id_list": "11237011;11809803;12496758;15110318;15769737;18083837;19356719;19417006;20877624;21292163;21531335;22341444;22949673;23022348;23303773;23435261;23804760;24036117;24714562;25008111;25009282;25074936;25418920;25576301;26154972;26464487;26728094;26811146;26992070;27600516;27667664;27846572;27862975;27920218;27974379;28082677;28218747;28228285;28832583;29107537;29242379;29393594;29437277;29493099;29557506;29632711;29786170;30315122;30429286;31477916;31844290;31848261;32157095;32265295;32387766;32897882;33298915;33968037;34087483;34561969;35051231;35051350;35580925;36241641;41136621", "class_list": "", "function": "Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of different mitochondrial RNA substrates (PubMed:27974379, PubMed:28082677, PubMed:41136621). Acts on position 1397 in 16S mitochondrial ribosomal RNA (16S mt-rRNA) (PubMed:27974379, PubMed:41136621). This modification is required for the assembly of 16S mt-rRNA into a functional mitochondrial ribosome (PubMed:27974379). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA, controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664). Acts on position 39 in mitochondrial tRNA(Phe) (PubMed:28082677). Also catalyzes pseudouridylation of mRNAs in nucleus: acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350). Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing., [RefSeq, PubMed]; RPUSD4 binds 16S mt-rRNA, mt-tRNA(Met), and mt-tRNA(Phe), and is responsible for pseudouridylation of the latter., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "E9PML2;Q96K56", "ec_number_list": "5.4.99.-;5.4.99.25;5.4.99.42;5.4.99.28;5.4.99.12", "go_molecular_function": "GO:0003723 RNA binding;GO:0000049 tRNA binding;GO:0009982 pseudouridine synthase activity;GO:0106029 tRNA pseudouridine synthase activity;GO:1990400 mitochondrial ribosomal large subunit rRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0035770 ribonucleoprotein granule", "go_biological_process": "GO:0000455 enzyme-directed rRNA pseudouridine synthesis;GO:0000154 rRNA modification;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0031118 rRNA pseudouridine synthesis", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q96CM3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96DX8-1", "uniprot_id": "RTP4_HUMAN", "mass": 27863.0, "length": 246, "protein_name": "Receptor-transporting protein 4", "gene_name": "RTP4", "organism": "Human", "refseq_name": "receptor-transporting protein 4", "refseq_ac": "NP_071430", "gene_names_uniprotkb": "RTP4; IFRG28; Z3CXXC4", "gene_names_refseq": "IFRG28; RTP4; Z3CXXC4", "protein_names_uniprotkb": "Receptor-transporting protein 4; 28 kDa interferon-responsive protein; 3CxxC-type zinc finger protein 4", "protein_names_refseq": "28 kDa interferon-responsive protein; 28kD interferon responsive protein; 3CxxC-type zinc finger protein 4; receptor (chemosensory) transporter protein 4; receptor-transporting protein 4; zinc finger, 3CxxC-type 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:64108)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "15550249;16720576;18836069;26992070;27846572;27920218;28832583;29493099;29508533;29557506;29786170;30429286;31844290;32709745;32938616;32983136;33113352;34154655;35051231;36284347;36859628;39798334", "class_list": "", "function": "Chaperone protein that facilitates the trafficking and functional cell surface expression of some G protein-coupled receptors (GPCRs) (PubMed:18836069). Promotes functional expression of the bitter taste receptor TAS2R16 (PubMed:16720576). Also promotes functional expression of the opioid receptor heterodimer OPRD1-OPRM1 (By similarity). In addition, acts as a potent IFN-inducible suppressor of pathogens including lyssavirus rabies, influenza A or yellow fever virus (PubMed:33113352). Mechanistically, associates with the viral replicase, binds viral RNA, and thereby suppresses viral genome amplification that replicates at the endoplasmic reticulum (By similarity). In addition, restores antiviral signaling by interacting with and sequestering influenza A virus protein NS1 (PubMed:39798334)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; RTP4 inhibits IFN-I response and enhances experimental cerebral malaria and neuropathology., [RefSeq, PubMed]; RTP4 is a novel prognosis-related hub gene in cutaneous melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; RTP4 silencing provokes tumor-intrinsic resistance to immune checkpoint blockade 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9H4F3", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031849 olfactory receptor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0051607 defense response to virus;GO:0006612 protein targeting to membrane;GO:0051205 protein insertion into membrane;GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96DX8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96IZ7-1", "uniprot_id": "RSRC1_HUMAN", "mass": 38677.0, "length": 334, "protein_name": "Serine/Arginine-related protein 53", "gene_name": "RSRC1", "organism": "Human", "refseq_name": "serine/Arginine-related protein 53 isoform 2", "refseq_ac": "NP_001258763", "gene_names_uniprotkb": "RSRC1; BM-011; SRRP53", "gene_names_refseq": "BM-011; MRT70; RSRC1; SFRS21; SRrp53", "protein_names_uniprotkb": "Serine/Arginine-related protein 53; Arginine/serine-rich coiled-coil protein 1; SRrp53", "protein_names_refseq": "arginine/serine-rich coiled-coil 1; arginine/serine-rich coiled-coil protein 1; serine/Arginine-related protein 53 isoform 2; serine/Arginine-related protein 53; splicing factor, arginine/serine-rich 21", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 70 (Disease Ontology:DOID:0081231)", "pathway": " (hsa:51319)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;15798186;18452278;19065146;19651622;20068231;24366607;24714562;25576301;26154972;26375851;26992070;27920218;28218747;28640246;28832583;29242379;29437277;29493099;29508533;29522154;30429286;31154438;31222486;31530632;31844290;32157095;32387766;32502341;32897882;32938616;32983136;33298915;33392160;33717175;33912179;33968037;34405274;34509645;35051231;35154160;35254053;39894887;40596516", "class_list": "", "function": "Has a role in alternative splicing and transcription regulation (PubMed:29522154). Involved in both constitutive and alternative pre-mRNA splicing. May have a role in the recognition of the 3' splice site during the second step of splicing., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]., [RefSeq]; This study use Functional MRI and Genome Wide Association Analysis indentic novel gene(RSRC1) associated with 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": 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": 12, "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": "A8K2R9;Q96QK2;Q9NZE5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome;GO:0000380 alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q96IZ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96NL0-1", "uniprot_id": "RUN3B_HUMAN", "mass": 52813.0, "length": 473, "protein_name": "RUN domain-containing protein 3B", "gene_name": "RUNDC3B", "organism": "Human", "refseq_name": "RUN domain-containing protein 3B isoform b", "refseq_ac": "NP_001127877", "gene_names_uniprotkb": "RUNDC3B; RPIB9; RPIP9", "gene_names_refseq": "RPIB9; RPIP9; RUNDC3B", "protein_names_uniprotkb": "RUN domain-containing protein 3B; RPIP-9; Rap2-binding protein 9; Rap2-interacting protein 9", "protein_names_refseq": "RUN domain-containing protein 3B isoform b; RUN domain-containing protein 3B; Rap2 binding protein 9; Rap2-interacting protein 9; rap2-binding protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:154661)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12645870;15986426;18452278;19413330;19913121;20628086;22846052;26011749;29393594;30429286", "class_list": "", "function": "Activation of Rap2-binding protein 9 (RPIP9) occurs during the malignant breast epithelial transformation and increases with progression toward an invasive phenotype, [RefSeq, PubMed]; During a large-scale screen of a human fetal brain cDNA library, a full-length cDNA encoding a novel Rap2-interacting protein was isolated and sequenced. The gene was mapped to human chromosome 7q21-q22 and has 9 exons and 8 introns., [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]; RUNDC3B expression has a role in promoter methylation in lymphoid malignancies, [RefSeq, PubMed]; The ABCB1 nested gene RUNDC3B expression, although upregulated by TSA, is independent of the ABCB1 alternative promoter used. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4DFD0;E9PBR4;Q8IWW5;Q8NB55;Q8TBG7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q96NL0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96T23-1", "uniprot_id": "RSF1_HUMAN", "mass": 163821.0, "length": 1441, "protein_name": "Remodeling and spacing factor 1", "gene_name": "RSF1", "organism": "Human", "refseq_name": "remodeling and spacing factor 1", "refseq_ac": "NP_057662", "gene_names_uniprotkb": "RSF1; HBXAP; XAP8", "gene_names_refseq": "HBXAP; RSF-1; RSF1; XAP8; p325", "protein_names_uniprotkb": "Remodeling and spacing factor 1; HBV pX-associated protein 8; Hepatitis B virus X-associated protein; Rsf-1; p325 subunit of RSF chromatin-remodeling complex", "protein_names_refseq": "HBV pX-associated protein 8; hepatitis B virus x-associated protein; p325 subunit of RSF chromatin-remodeling complex; remodeling and spacing factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51773); (R-HSA-606279)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11788598;11944984;12972596;15369671;16622420;16964243;17081983;17199038;17287340;17339379;17525332;17924679;18077418;18452278;18491316;18669648;18707149;19398759;19410544;19410545;19413330;19415658;19608861;19651622;19664995;19690332;20058876;20068231;20080577;20166139;20566683;21406692;21768289;23186163;23481700;24275569;24715725;25114211;25218447;25418920;25576301;25645385;25755297;25772364;26259146;26375851;27499292;27600516;27846572;27920218;28063628;28514659;28649982;28801535;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30192525;30379171;30410026;30524438;30779550;31154438;31530632;31844290;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33968037;33981976;34019948;34405274;35051231;35318648;35561310;35580925;35818253;36010968;36056431;36856209;37108169;37938771", "class_list": "", "function": "Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk. Publication Status: Online-Only, [RefSeq, PubMed]; Linc00958/miR-185-5p/RSF-1 modulates cisplatin resistance and angiogenesis through AKT1/GSK3beta/VEGFA pathway in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-129-5p Plays an Anticancer Role in Colon Cancer by Targeting RSF1. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit of the ATP-dependent RSF-1 and RSF-5 ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:12972596, PubMed:28801535). Binds to core histones together with SMARCA5, and is required for the assembly of regular nucleosome arrays by the RSF-5 ISWI chromatin-remodeling complex (PubMed:12972596). Directly stimulates the ATPase activity of SMARCA1 and SMARCA5 in the RSF-1 and RSF-5 ISWI chromatin-remodeling complexes, respectively (PubMed:28801535). The RSF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the RSF-5 ISWI chromatin-remodeling complex (PubMed:28801535). The complexes do not have the ability to slide mononucleosomes to the center of a DNA template (PubMed:28801535). Facilitates transcription of hepatitis B virus (HBV) genes by the pX transcription activator. In case of infection by HBV, together with pX, it represses TNF induced NF-kappa-B transcription activation. Represses transcription when artificially recruited to chromatin by fusion to a heterogeneous DNA binding domain (PubMed:11788598, PubMed:11944984)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone. [provided by RefSeq, Sep 2011]., [RefSeq]; [Circular RNA circRSF1 binds to HuR to promote radiation-induced inflammatory phenotype in hepatic stellate cells]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 61, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q86X86;Q9H3L8;Q9NVZ8;Q9NYU0", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0140751 histone octamer slider activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031213 RSF complex", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q96T23-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BPW5-1", "uniprot_id": "RSLBB_HUMAN", "mass": 27508.0, "length": 248, "protein_name": "Ras-like protein family member 11B", "gene_name": "RASL11B", "organism": "Human", "refseq_name": "ras-like protein family member 11B", "refseq_ac": "NP_076429", "gene_names_uniprotkb": "RASL11B", "gene_names_refseq": "RASL11B", "protein_names_uniprotkb": "Ras-like protein family member 11B; 3.6.5.2", "protein_names_refseq": "ras-like protein family member 11B", "tax_id": 9606, "disease": "", "pathway": " (hsa:65997)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "15033445;17628721;24715725;25576301;29968912;31432180;32878463;34171305;36010968", "class_list": "", "function": "MEG3 could up-regulate RASL11B to inhibit the cell proliferation, invasion, and migration; induce G0/G1 cell cycle arrest; and promote cell apoptosis by suppressing miR-7 in clear cell renal cell carcinoma., [RefSeq, PubMed]; RASL11B gene enhances hyaluronic acid-mediated chondrogenic differentiation in human amniotic mesenchymal stem cells via the activation of Sox9/ERK/smad signals., [RefSeq, PubMed]; RASL11B gene is expressed in all tissues investigated, with highest levels in placenta & primary macrophages. RASL11B may play a role in TGF-beta1-mediated developmental processes & in pathophysiologies such as inflammation, cancer, and arteriosclerosis., [RefSeq, PubMed]; The present study identified a novel significant association between the increased expression levels of MAPK10, TUBB2B and RASL11B, and neuroblastoma 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": 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": "B2RC51;Q96KC5", "ec_number_list": "3.6.5.-;3.6.5.2;3.6.5.3;3.6.5.5;3.6.1.5;3.6.1.-;3.6.5.4;2.7.11.1;3.6.-.-;3.6.1.15;3.6.1.6;3.6.1.42", "go_molecular_function": "GO:0005525 GTP binding;GO:0005160 transforming growth factor beta receptor binding;GO:0003925 G protein activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9BPW5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BQQ7-1", "uniprot_id": "RTP3_HUMAN", "mass": 27031.0, "length": 232, "protein_name": "Receptor-transporting protein 3", "gene_name": "RTP3", "organism": "Human", "refseq_name": "receptor-transporting protein 3", "refseq_ac": "NP_113628", "gene_names_uniprotkb": "RTP3; TMEM7; Z3CXXC3", "gene_names_refseq": "LTM1; RTP3; TMEM7; Z3CXXC3", "protein_names_uniprotkb": "Receptor-transporting protein 3; 3CxxC-type zinc finger protein 3; Transmembrane protein 7", "protein_names_refseq": "3CxxC-type zinc finger protein 3; receptor (chemosensory) transporter protein 3; receptor-transporting protein 3; transmembrane protein 7; zinc finger, 3CxxC-type 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:83597)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11896456;15550249;16720576;17693185;20166139", "class_list": "", "function": "Loss of TMEM7 is associated with hepatocellular carcinoma, [RefSeq, PubMed]; Promotes functional cell surface expression of the bitter taste receptors TAS2R16 and TAS2R43., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RRP6", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031849 olfactory receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0051205 protein insertion into membrane;GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9BQQ7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BXY4-1", "uniprot_id": "RSPO3_HUMAN", "mass": 30929.0, "length": 272, "protein_name": "R-spondin-3", "gene_name": "RSPO3", "organism": "Human", "refseq_name": "R-spondin-3 precursor", "refseq_ac": "NP_116173", "gene_names_uniprotkb": "RSPO3; PWTSR; THSD2", "gene_names_refseq": "CRISTIN1; PWTSR; RSPO3; THSD2", "protein_names_uniprotkb": "R-spondin-3; Protein with TSP type-1 repeat; Roof plate-specific spondin-3; Thrombospondin type-1 domain-containing protein 2; hPWTSR; hRspo3", "protein_names_refseq": "R-spondin 3 homolog; R-spondin-3 precursor; protein with TSP type-1 repeat; roof plate-specific spondin-3; thrombospondin type-1 domain-containing protein 2; thrombospondin, type I, domain containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84870); (R-HSA-4641263); (R-HSA-8939256)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "12463421;16109882;16357527;17400545;17804805;18978678;20495530;20935629;21693646;21727895;21909076;22575959;22615920;23847203;26735887;26764097;26766444;27314333;27350215;29769720;35995979;36129915;37173190;37932819;39245068", "class_list": "", "function": "Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway (PubMed:21727895, PubMed:21909076, PubMed:22615920). Acts as a key regulator of angiogenesis by controlling vascular stability and pruning: acts by activating the non-canonical Wnt signaling pathway in endothelial cells (By similarity) (PubMed:21727895, PubMed:21909076, PubMed:22615920). Can also amplify Wnt signaling pathway independently of LGR4-6 receptors, possibly by acting as a direct antagonistic ligand to RNF43 and ZNRF3 (PubMed:29769720)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Amniotic fluid stem cell attenuated necrotizing enterocolitis progression by promoting Rspo3/AMPKalpha axis., [RefSeq, PubMed]; Investigation of cell signalings and therapeutic targets in PTPRK-RSPO3 fusion-positive colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2011 Nov;43(11):1164], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RSPO3 is a novel contraction-inducible factor identified in an ''in vitro exercise model'' using primary human myotubes. Publication Status: Online-Only, [RefSeq, PubMed]; RSPO3 regulates the radioresistance of Non-Small cell lung cancer cells via NLRP3 Inflammasome-Mediated pyroptosis., [RefSeq, PubMed]; The gene is a novel member of thrombospondin type I repeat supergene family (hPWTSR), [RefSeq, PubMed]; This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]., [RefSeq]; Upregulation of RSPO3 via targeted promoter DNA demethylation inhibits the progression of cholangiocarcinoma. 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": 3, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 2, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 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": 2, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RC27;Q5VTV4;Q96K87", "ec_number_list": "", "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005109 frizzled binding;GO:0008201 heparin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0001974 blood vessel remodeling;GO:2000096 positive regulation of Wnt signaling pathway, planar cell polarity pathway;GO:0016055 Wnt signaling pathway;GO:0002040 sprouting angiogenesis;GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9BXY4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZJ4-1", "uniprot_id": "S2539_HUMAN", "mass": 39249.0, "length": 359, "protein_name": "Mitochondrial glutathione transporter SLC25A39", "gene_name": "SLC25A39", "organism": "Human", "refseq_name": "mitochondrial glutathione transporter SLC25A39 isoform a", "refseq_ac": "NP_001137252", "gene_names_uniprotkb": "SLC25A39; CGI-69; PRO2163", "gene_names_refseq": "CGI-69; CGI69; SLC25A39", "protein_names_uniprotkb": "Mitochondrial glutathione transporter SLC25A39; Solute carrier family 25 member 39", "protein_names_refseq": "mitochondrial glutathione transporter SLC25A39 isoform a; probable mitochondrial glutathione transporter SLC25A39", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:51629)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11139402;11230166;11237011;11256614;19656490;23266187;23481700;25576301;26992070;28218747;28832583;28834231;28904123;29437277;29632046;30315122;31154438;31844290;31848261;32357974;33298915;33963205;34707288;35513392;35580925;36010968;37917749;38157846;38364779", "class_list": "", "function": "Autoregulatory control of mitochondrial glutathione homeostasis., [RefSeq, PubMed]; Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Dual regulation of SLC25A39 by AFG3L2 and iron controls mitochondrial glutathione homeostasis., [RefSeq, PubMed]; Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial transporter required for glutathione import into mitochondria (PubMed:34707288, PubMed:35513392, PubMed:37917749, PubMed:38157846). Glutathione, which plays key roles in oxidative metabolism, is produced exclusively in the cytosol and is imported in many organelles (PubMed:34707288). Mitochondrial glutathione is required for the activity and stability of proteins containing iron-sulfur clusters, as well as erythropoiesis (PubMed:34707288)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mitochondrial transporter required for glutathione import into mitochondria. Glutathione, which plays key roles in oxidative metabolism, is produced exclusively in the cytosol and is imported in many organelles. Mitochondrial glutathione is required for the activity and stability of proteins containing iron-sulfur clusters, as well as erythropoiesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Required for functional heme biosynthesis in erythroid cells. Possibly regulate ALAS2 through iron-sulfur cluster biogenesis., [RefSeq, PubMed]; SLC25A39 links mitochondrial GSH sensing with iron metabolism. Review article, [RefSeq, PubMed]; This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "A8JZZ2;D3DX51;D3DX54;Q4V9M1;Q9P182;Q9UF66;Q9Y379", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0051537 2 iron, 2 sulfur cluster binding;GO:0034634 glutathione transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0071281 cellular response to iron ion;GO:0006783 heme biosynthetic process;GO:1990542 mitochondrial transmembrane transport;GO:0160007 glutathione import into mitochondrion", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9BZJ4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H015-1", "uniprot_id": "S22A4_HUMAN", "mass": 62155.0, "length": 551, "protein_name": "Solute carrier family 22 member 4", "gene_name": "SLC22A4", "organism": "Human", "refseq_name": "solute carrier family 22 member 4", "refseq_ac": "NP_003050", "gene_names_uniprotkb": "SLC22A4; ETT; OCTN1; UT2H", "gene_names_refseq": "DFNB60; ETTh; OCTN1; SLC22A4", "protein_names_uniprotkb": "Solute carrier family 22 member 4; ET transporter; ETTh; Ergothioneine transporter; OCTN1; Organic cation/carnitine transporter 1", "protein_names_refseq": "ET transporter; deafness, autosomal recessive 60; ergothioneine transporter; integral membrane transport protein; organic cation/carnitine transporter 1; solute carrier family 22 (organic cation/ergothioneine transporter), member 4; solute carrier family 22 (organic cation/zwitterion transporter), member 4; solute carrier family 22 member 4", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:6583); (R-HSA-549127); (R-HSA-6798163)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10072434;10196521;10215651;10444331;10767172;10966924;10966938;11231903;12089149;12372408;12384147;12436193;12951056;14429690;14608356;14674884;15107849;15184985;15459889;15795384;15832501;16330770;16729965;16788146;16807400;17509534;19236841;19357133;20207735;20601551;21126579;22206629;22569296;22825317;24190977;26522469;27486859;28209616;29530864;29557506;30484775;33124720;33633747;33968037;34958679;35051231;35289036;35307651;35580925;36241641;38092232;38112574;6163778;7989337;8647271;9260930;9426230;9520460;9655880;9685390;9744804", "class_list": "", "function": "Investigating the ID3/SLC22A4 as immune-related signatures in ischemic stroke., [RefSeq, PubMed]; OCTN1 (SLC22A4) displays two different transport pathways for organic cations or zwitterions., [RefSeq, PubMed]; Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]., [RefSeq]; The ergothioneine transporter (ETT): substrates and locations, an inventory. Review article, [RefSeq, PubMed]; Transporter that mediates the transport of endogenous and microbial zwitterions and organic cations (PubMed:10215651, PubMed:15107849, PubMed:15795384, PubMed:16729965, PubMed:20601551, PubMed:22206629, PubMed:22569296, PubMed:29530864). Functions as a Na(+)-dependent and pH-dependent high affinity microbial symporter of potent food-derived antioxidant ergothioeine (PubMed:15795384, PubMed:29530864, PubMed:33124720). Transports one sodium ion with one ergothioeine molecule (By similarity). Involved in the absorption of ergothioneine from the luminal/apical side of the small intestine and renal tubular cells, and into non-parenchymal liver cells, thereby contributing to maintain steady-state ergothioneine level in the body (PubMed:20601551). Also mediates the bidirectional transport of acetycholine, although the exact transport mechanism has not been fully identified yet (PubMed:22206629). Most likely exports anti-inflammatory acetylcholine in non-neuronal tissues, thereby contributing to the non-neuronal cholinergic system (PubMed:22206629, PubMed:22569296). Displays a general physiological role linked to better survival by controlling inflammation and oxidative stress, which may be related to ergothioneine and acetycholine transports (PubMed:15795384, PubMed:22206629). May also function as a low-affinity Na(+)-dependent transporter of L-carnitine through the mitochondrial membrane, thereby maintaining intracellular carnitine homeostasis (PubMed:10215651, PubMed:15107849, PubMed:16729965). May contribute to regulate the transport of cationic compounds in testis across the blood-testis-barrier (PubMed:35307651)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 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": 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": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O14546", "ec_number_list": "", "go_molecular_function": "GO:0015651 quaternary ammonium group transmembrane transporter activity;GO:0015199 amino-acid betaine transmembrane transporter activity;GO:0005524 ATP binding;GO:0015171 amino acid transmembrane transporter activity;GO:0015293 symporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane;GO:0043025 neuronal cell body;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0015697 quaternary ammonium group transport;GO:0032496 response to lipopolysaccharide;GO:0043330 response to exogenous dsRNA;GO:0007595 lactation;GO:0043252 sodium-independent organic anion transport", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9H015-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H228-1", "uniprot_id": "S1PR5_HUMAN", "mass": 41775.0, "length": 398, "protein_name": "Sphingosine 1-phosphate receptor 5", "gene_name": "S1PR5", "organism": "Human", "refseq_name": "sphingosine 1-phosphate receptor 5", "refseq_ac": "NP_001159687", "gene_names_uniprotkb": "S1PR5; EDG8", "gene_names_refseq": "EDG8; Edg-8; S1P5; S1PR5; SPPR-1; SPPR-2", "protein_names_uniprotkb": "Sphingosine 1-phosphate receptor 5; Endothelial differentiation G protein-coupled receptor 8; S1P receptor 5; S1P receptor Edg-8; S1P5; Sphingosine 1-phosphate receptor Edg-8", "protein_names_refseq": "S1P receptor 5; S1P receptor Edg-8; endothelial differentiation G-protein-coupled receptor 8; endothelial differentiation, sphingolipid G-protein-coupled receptor, 8; sphingosine 1-phosphate receptor 5; sphingosine 1-phosphate receptor EDG8; sphingosine 1-phosphate receptor Edg-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:53637); (R-HSA-418594); (R-HSA-419408)", "pathway_count": 3, "publication_count": 49, "publication_id_list": "10488065;10488122;10617617;10727522;10753843;10799507;11007482;11237011;11705398;12044878;12120503;12234605;12427546;12730698;15530552;15951850;16634148;16923326;18434541;18577758;19366702;20061941;2160972;23388400;24900670;2534964;26990079;2748346;27868302;2834384;28351953;29248494;29557506;29735753;29789417;30784271;31154438;32161166;32983136;34271437;35051231;7937899;8015379;8406495;8626678;8878560;9070858;9525886;9804623", "class_list": "", "function": "Data indicate that the mitotic kinase Polo-like kinase 1 (PLK1) was an important effector of S1P-S1P5 signaling, and a new function of the SphK1-S1P pathway specifically in the control of mitosis in HeLa cells. Publication Status: Online-Only, [RefSeq, PubMed]; Interactions between lysophosphatidylinositol receptor GPR55 and sphingosine-1-phosphate receptor S1P5 in live cells., [RefSeq, PubMed]; Our findings establish that S1PR5 is of central importance for human NK-cell response to sphingosine-1-phosphate and suggest that it is required for their egress from the bone marrow and secondary lymphoid organs., [RefSeq, PubMed]; Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effect on most types of cells and tissues. Is coupled to both the G(i/0)alpha and G(12) subclass of heteromeric G proteins (By similarity). May play a regulatory role in the transformation of radial glial cells into astrocytes and may affect proliferative activity of these cells., [UniProtKB]; Reduced DNA methylation may underlie the increased expression of the S1PR5 gene in alveolar macrophages and associated defective efferocytosis in COPD., [RefSeq, PubMed]; The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008]., [RefSeq]; The molecular identity, functional properties, and expression profile of the S1P5 (Edg-8) receptor have been characterized., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6NW11", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0038036 sphingosine-1-phosphate receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0098793 presynapse;GO:0016020 membrane", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9H228-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HA92-1", "uniprot_id": "RSAD1_HUMAN", "mass": 48714.0, "length": 442, "protein_name": "Radical S-adenosyl methionine domain-containing protein 1, mitochondrial", "gene_name": "RSAD1", "organism": "Human", "refseq_name": "radical S-adenosyl methionine domain-containing protein 1, mitochondrial precursor", "refseq_ac": "NP_060816", "gene_names_uniprotkb": "RSAD1", "gene_names_refseq": "HemW; RSAD1", "protein_names_uniprotkb": "Radical S-adenosyl methionine domain-containing protein 1, mitochondrial; Putative heme chaperone", "protein_names_refseq": "oxygen-independent coproporphyrinogen-III oxidase-like protein RSAD1; putative heme chaperone; radical S-adenosyl methionine domain-containing protein 1, mitochondrial precursor; radical S-adenosyl methionine domain-containing protein 1, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:55316)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;20877624;26154972;26992070;27920218;28218747;28228285;28832583;28904123;29242379;29282292;29437277;29493099;29557506;30410026;31844290;31848261;32157095;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33968037;34171305;34405274;34509645;35051231;35580925;36010968;36241641", "class_list": "", "function": "May be a heme chaperone, appears to bind heme. Homologous bacterial proteins do not have oxygen-independent coproporphyrinogen-III oxidase activity (Probable). Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine (By similarity)., [UniProtKB, UniProtKB, 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": "B4DMW0;Q53HV8;Q86VC4;Q9BRY7;Q9NUS7", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0020037 heme binding;GO:0004109 coproporphyrinogen oxidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0006779 porphyrin-containing compound biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9HA92-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRA2-1", "uniprot_id": "S17A5_HUMAN", "mass": 54640.0, "length": 495, "protein_name": "Sialin", "gene_name": "SLC17A5", "organism": "Human", "refseq_name": "sialin isoform 1", "refseq_ac": "NP_036566", "gene_names_uniprotkb": "SLC17A5", "gene_names_refseq": "AST; ISSD; NSD; SD; SIALIN; SIASD; SLC17A5; SLD; VEAT", "protein_names_uniprotkb": "Sialin; AST; H(+)/nitrate cotransporter; H(+)/sialic acid cotransporter; Membrane glycoprotein HP59; Solute carrier family 17 member 5; VEAT; Vesicular excitatory amino acid transporter", "protein_names_refseq": "H(+)/nitrate cotransporter; H(+)/sialic acid cotransporter; infantile sialic acid storage disorder; membrane glycoprotein HP59; sialic acid storage disease; sialin isoform 1; sodium/sialic acid cotransporter; solute carrier family 17 (acidic sugar transporter), member 5; solute carrier family 17 (anion/sugar transporter), member 5; vesicular H(+)/Aspartate-glutamate cotransporter; vesicular excitatory amino acid transporter", "tax_id": 9606, "disease": "lysosomal storage disease (Disease Ontology:DOID:3211); sialuria (Disease Ontology:DOID:3659); free sialic acid storage disease, infantile form (MONDO:MONDO:0010027)", "pathway": " (hsa:26503); (R-HSA-2160916); (R-HSA-4085001); (R-HSA-428643); (R-HSA-5619035)", "pathway_count": 5, "publication_count": 128, "publication_id_list": "10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10585886;10742600;10749855;10861246;10947946;11062056;11279095;11350981;11528398;11568288;11602804;11751519;11916006;11945784;11946196;12177386;12235148;12473780;1252077;12603328;12668675;12743242;12794687;12794688;14514708;14962670;15035633;15090545;15136692;15172005;15213228;15501818;15503855;15510212;15516337;15576474;16104017;16147865;16170568;16237198;16920706;17050540;17123352;1756715;17692818;17897319;18578522;18632803;19787704;19797320;2010546;20424173;21081508;21781115;22692205;22778404;23186163;23393310;23509262;23889254;24715725;25576301;26870663;26992070;27872510;28187749;28832583;28834231;28904123;29031613;29211846;29242379;29557506;29632046;2971395;30429286;30779550;31154438;3136930;31844290;32387766;32983136;33968037;34020084;34185709;34357683;34520823;34561969;3468507;34932366;35051231;35318648;35580925;35728586;36284347;37673303;39742826;4687397;4716993;4719206;4745729;7151835;7252518;7470147;7559389;8282124;8333853;8591035;8597574;8611500;8631981;8901634;8920913;8985184;9010752;9199191;9712871;9822625;9826427", "class_list": "glycogene", "function": "Elevated levels of AST are Associated with Cardiovascular disease., [RefSeq, PubMed]; Multifunctional anion transporter that operates via two distinct transport mechanisms, namely proton-coupled anion cotransport and membrane potential-dependent anion transport (PubMed:15510212, PubMed:21781115, PubMed:22778404, PubMed:23889254). Electroneutral proton-coupled acidic monosaccharide symporter, with a sugar to proton stoichiometry of 1:1. Exports glucuronic acid and free sialic acid derived from sialoglycoconjugate degradation out of lysosomes, driven by outwardly directed lysosomal pH gradient. May regulate lysosome function and metabolism of sialylated conjugates that impact oligodendrocyte lineage differentiation and myelinogenesis in the central nervous system (By similarity) (PubMed:15510212, PubMed:21781115, PubMed:22778404, PubMed:23889254). Electrogenic proton-coupled nitrate symporter that transports nitrate ions across the basolateral membrane of salivary gland acinar cells, with nitrate to proton stoichiometry of 2:1. May contribute to nitrate clearance from serum by salivary glands, where it is further concentrated and secreted in the saliva (PubMed:22778404). Uses membrane potential to drive the uptake of acidic amino acids and peptides into synaptic vesicles. Responsible for synaptic vesicular storage of L-aspartate and L-glutamate in pinealocytes as well as vesicular uptake of N-acetyl-L-aspartyl-L-glutamate neuropeptide, relevant to aspartegic-associated glutamatergic neurotransmission and activation of metabotropic receptors that inhibit subsequent transmitter release (By similarity) (PubMed:21781115, PubMed:22778404, PubMed:23889254)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed]; Receptor for CM101, a polysaccharide produced by group B Streptococcus with antipathoangiogenic properties., [UniProtKB, UniProtKB]; Serum alanine transaminase is predictive of fasting and postprandial insulin and glucagon concentrations in type 2 diabetes., [RefSeq, PubMed]; Study describes a novel pathogenic variant in SLC17A5, namely an intronic transposal insertion, in a patient with mild biochemical and clinical phenotypes. The presence of a small fraction of normal transcript may explain the mild phenotype. This case illustrates the importance of including lysosomal sialic acid storage disease in the differential diagnosis of developmental delay with postnatal onset and hypomyelination. Publication Status: Online-Only, [RefSeq, PubMed]; These data demonstrate that sialin mediates nitrate influx into salivary gland and other cell types., [RefSeq, PubMed]; This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 637, "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": "Q5SZ76;Q8NBR5;Q9UGH0", "ec_number_list": "", "go_molecular_function": "GO:0015136 sialic acid transmembrane transporter activity;GO:0015538 sialic acid:proton symporter activity;GO:0005351 carbohydrate:proton symporter activity;GO:0042880 D-glucuronate transmembrane transporter activity;GO:0015135 glucuronate transmembrane transporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0005764 lysosome", "go_biological_process": "GO:0015739 sialic acid transport;GO:0006865 amino acid transport;GO:0015711 organic anion transport;GO:0006820 monoatomic anion transport;GO:0098700 neurotransmitter loading into synaptic vesicle", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q9NRA2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NSI8-1", "uniprot_id": "SAMN1_HUMAN", "mass": 41708.0, "length": 373, "protein_name": "SAM domain-containing protein SAMSN-1", "gene_name": "SAMSN1", "organism": "Human", "refseq_name": "SAM domain-containing protein SAMSN-1 isoform 2", "refseq_ac": "NP_001243299", "gene_names_uniprotkb": "SAMSN1; HACS1", "gene_names_refseq": "HACS1; NASH1; SAMSN1; SASH2; SH3D6B; SLy2", "protein_names_uniprotkb": "SAM domain-containing protein SAMSN-1; Hematopoietic adaptor containing SH3 and SAM domains 1; Nash1; SAM domain, SH3 domain and nuclear localization signals protein 1; SH3-SAM adaptor protein", "protein_names_refseq": "SAM and SH3 domain containing 2; SAM domain, SH3 domain and nuclear localisation signals, 1; SAM domain, SH3 domain and nuclear localization signals protein 1; SAM domain-containing protein SAMSN-1 isoform 2; SAM domain-containing protein SAMSN-1; SH3-SAM adaptor protein; Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2; hematopoietic adapter-containing SH3 and sterile I+/--motif (SAM) domains 1; hematopoietic adapter-containing SH3 and sterile alpha-motif (SAM) domains 1; hematopoietic adaptor containing SH3 and SAM domains 1; nuclear localization signals, SAM and SH3 domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64092)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;11536050;11594764;15381729;19651622;19807924;20058876;22424782;22898188;23186163;23481700;24278465;24366607;24715725;25117979;25805236;26375851;26992070;27846572;27920218;28228285;28832583;28904123;29242379;29493099;29508533;29557506;29786170;30315122;30410026;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32983136;33141586;33188360;33298915;33633747;33717175;33936100;33968037;34211107;34357683;34509645;34932366;35051231;35251023;35580925", "class_list": "", "function": "HACS1 is up-regulated by B cell activation signals and is a participant in B cell activation and differentiation., [RefSeq, PubMed]; HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain. Publication Status: Online-Only, [RefSeq, PubMed]; High expression of SAMSN1 is a significant risk factor for the progression free and overall survival of glioblastoma multiforme Publication Status: Online-Only, [RefSeq, PubMed]; Negative regulator of B-cell activation. Down-regulates cell proliferation (in vitro). Promotes RAC1-dependent membrane ruffle formation and reorganization of the actin cytoskeleton. Regulates cell spreading and cell polarization. Stimulates HDAC1 activity. Regulates LYN activity by modulating its tyrosine phosphorylation (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]., [RefSeq]; Suppression of SAMSN1 Expression is Associated with the Malignant Phenotype of Hepatocellular Carcinoma., [RefSeq, PubMed]; This is the first study to identify deletion of a key gene in the C57BL/KaLwRij mice that also displays reduced gene expression in patients with MM and is therefore likely to play an integral role in MM disease development., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "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": "B3KWJ3;F8WAA1;Q8NFF7;Q9C041", "ec_number_list": "", "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001726 ruffle", "go_biological_process": "GO:1902531 regulation of intracellular signal transduction;GO:0050869 negative regulation of B cell activation;GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation;GO:0002820 negative regulation of adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9NSI8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UGH3-1", "uniprot_id": "S23A2_HUMAN", "mass": 70337.0, "length": 650, "protein_name": "Solute carrier family 23 member 2", "gene_name": "SLC23A2", "organism": "Human", "refseq_name": "solute carrier family 23 member 2", "refseq_ac": "NP_005107", "gene_names_uniprotkb": "SLC23A2; KIAA0238; NBTL1; SLC23A1; SVCT2; YSPL2", "gene_names_refseq": "NBTL1; SLC23A1; SLC23A2; SVCT2; YSPL2", "protein_names_uniprotkb": "Solute carrier family 23 member 2; Na(+)/L-ascorbic acid transporter 2; Nucleobase transporter-like 1 protein; Sodium-dependent vitamin C transporter 2; Yolk sac permease-like molecule 2; hSVCT2", "protein_names_refseq": "Na(+)/L-ascorbic acid transporter 2; nucleobase transporter-like 1 protein; sodium-dependent vitamin C transporter-2; solute carrier family 23 (ascorbic acid transporter), member 2; solute carrier family 23 (nucleobase transporters), member 1; solute carrier family 23 (nucleobase transporters), member 2; solute carrier family 23 member 2; testicular secretory protein Li 48; yolk sac permease-like molecule 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9962); (R-HSA-196836)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10.1101/2023.09.13.557529;10395795;10471399;10556483;10556521;10783391;10862609;11237011;11396616;15970797;16150497;18491316;18512783;18578522;18619416;19379732;19651622;19690332;20166139;22706990;23186163;23328677;23481700;24190977;24715725;25418920;25502872;25576301;25645385;25802875;25880248;26154972;26811146;26929215;26992070;27600516;27846572;27920218;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29557506;29632046;29632711;29769354;29789417;30315122;30379171;30410026;30429286;30573663;30833945;31154438;31844290;31998317;32157095;32161166;32350084;32387766;32502341;32938616;33141586;33298915;33392160;33537174;33592498;33912179;33936100;33968037;34185709;34211107;34357683;34433824;34509645;34673103;35051231;35318648;35580925;36010968;36310070;36436457;37390985;37423323;37938771;38182073;7668255;8513896;9228080;9804989", "class_list": "", "function": "Ascorbate and its transporter SVCT2: The dynamic duo's integrated roles in CNS neurobiology and pathophysiology. Review article, [RefSeq, PubMed]; Impact of SLC23A1 and SLC23A2 Polymorphisms on the Risk for Preeclampsia in a Chinese Han Population., [RefSeq, PubMed]; Nedd4-1 regulates human sodium-dependent vitamin C transporter-2 functional expression in neuronal and epithelial cells., [RefSeq, PubMed]; SVCT2-mediated ascorbic acid uptake buffers stress responses via DNA hydroxymethylation reprogramming of S100 calcium-binding protein A4 gene., [RefSeq, PubMed]; SVCT2/SLC23A2 is a sodium-dependent urate transporter: functional properties and practical application., [RefSeq, PubMed]; Sodium/ascorbate cotransporter (PubMed:10471399, PubMed:10556521). Mediates electrogenic uptake of vitamin C, with a stoichiometry of 2 Na(+) for each ascorbate (PubMed:10471399)., [UniProtKB, PubMed, PubMed]; The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [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": 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": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DJZ1;Q8WWR4;Q92512;Q96D54;Q9UNU1;Q9UP85", "ec_number_list": "", "go_molecular_function": "GO:0008520 L-ascorbate:sodium symporter activity;GO:0015229 L-ascorbic acid transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0015882 L-ascorbic acid transmembrane transport;GO:0006979 response to oxidative stress;GO:0007155 cell adhesion;GO:0071361 cellular response to ethanol", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9UGH3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y2C5-1", "uniprot_id": "S17A4_HUMAN", "mass": 54055.0, "length": 497, "protein_name": "Probable small intestine urate exporter", "gene_name": "SLC17A4", "organism": "Human", "refseq_name": "probable small intestine urate exporter isoform b", "refseq_ac": "NP_001273050", "gene_names_uniprotkb": "SLC17A4", "gene_names_refseq": "KAIA2138; SLC17A4", "protein_names_uniprotkb": "Probable small intestine urate exporter; Solute carrier family 17 member 4", "protein_names_refseq": "Na/PO4 cotransporter; probable small intestine urate exporter isoform b; probable small intestine urate exporter; putative small intestine sodium-dependent phosphate transport protein; solute carrier family 17 (sodium phosphate), member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:10050)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10319585;22460716;24715725;27846572;30367059;31092671;31154438;31844290;32387766;34937426;35051231;36325340", "class_list": "", "function": "A prognostic signature consisting of metabolism-related genes and SLC17A4 serves as a potential biomarker of immunotherapeutic prediction in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions (PubMed:22460716). Mediates chloride-dependent transport of urate (PubMed:22460716). Mediates sodium-independent high affinity transport of thyroid hormones including L-thyroxine (T4) and 3,3',5-triiodo-L-thyronine (T3) (PubMed:30367059, PubMed:34937426). Can actively transport inorganic phosphate into cells via Na(+) cotransport (PubMed:22460716)., [UniProtKB, PubMed, PubMed, PubMed]; Functional Characterization of the Novel and Specific Thyroid Hormone Transporter SLC17A4., [RefSeq, PubMed]; Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]., [RefSeq]; SLC17A4 is an intestinal organic anion exporter that acts in delta-psi and Chloride dependent manners, [RefSeq, PubMed]; Thyroid hormone transporter (SLC17A4) single nucleotide polymorphism is associated with replicated free thyroxine (FT4) susceptibility loci in genome wide association study. Genetic variant SLC17A4-rs9356988 is associated with the 3,3',5-triiodothyronine (T3)/T4 ratio. 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": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 26, "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": "B4DDV9;E7EPE8;E7EU17;Q32MB7;Q32MB8", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015349 thyroid hormone transmembrane transporter activity;GO:0015143 urate transmembrane transporter activity;GO:0005436 sodium:phosphate symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane", "go_biological_process": "GO:0006796 phosphate-containing compound metabolic process;GO:0006814 sodium ion transport;GO:0044341 sodium-dependent phosphate transport", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9Y2C5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15004-1", "uniprot_id": "PAF15_HUMAN", "mass": 11986.0, "length": 111, "protein_name": "PCNA-associated factor", "gene_name": "PCLAF", "organism": "Human", "refseq_name": "PCNA-associated factor isoform 2", "refseq_ac": "NP_001025160", "gene_names_uniprotkb": "PCLAF; KIAA0101; L5; NS5ATP9; PAF", "gene_names_refseq": "KIAA0101; L5; NS5ATP9; OEATC-1; OEATC1; OEATC; PAF15; PAF; PCLAF; p15(PAF); p15/PAF; p15PAF", "protein_names_uniprotkb": "PCNA-associated factor; HCV NS5A-transactivated protein 9; Hepatitis C virus NS5A-transactivated protein 9; OEATC-1; Overexpressed in anaplastic thyroid carcinoma 1; PAF15; PCNA-associated factor of 15 kDa; PCNA-clamp-associated factor; p15PAF", "protein_names_refseq": "HCV NS5A-transactivated protein 9; PCNA-associated factor isoform 2; PCNA-associated factor of 15 kDa; hepatitis C virus NS5A-transactivated protein 9; overexpressed in anaplastic thyroid carcinoma 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9768); (R-HSA-5656169)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10.1101/2023.09.13.557529;10801132;10856253;10984059;11006276;11237011;11313979;12444249;15199127;15334068;15789362;16288740;16646990;17043239;18669648;19153606;19219066;20068230;20068231;21143968;21628590;21673012;21700221;22096502;22700975;22859295;23000965;23143872;23186163;23593430;24190977;24449906;24715725;24768535;25418920;25505266;25576301;25810538;26154972;26375851;27846572;27920218;28218747;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29789417;30484775;30779550;31154438;31217245;31844290;31998317;32157095;32161166;33141586;33298915;33968037;34087483;34171305;34792707;35210406;35318648;35524161;35561310;36164371;36241641;36284347;36705420;8658138;8751446", "class_list": "", "function": "Circ_0005231 promotes the progression of esophageal squamous cell carcinoma via sponging miR-383-5p and regulating KIAA0101., [RefSeq, PubMed]; KIAA0101 and IL2RA Were Identified as Core Genes in Hormone-Resistant Nephropathy. Publication Status: Online-Only, [RefSeq, PubMed]; KIAA0101 knockdown inhibits glioma progression and glycolysis by inactivating the PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; KIAA0101 protein expression was down-regulated in hepatocellular carcinoma; this gene could inhibit the HCC cell growth in vitro and presumably by its blocking effect on cell cycle Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of LINC01138 protects human chondrocytes against IL-1beta-induced damage by regulating the hsa-miR-1207-5p/KIAA0101 axis., [RefSeq, PubMed]; Overexpression of KIAA0101 is associated with anaplastic thyroid carcinoma, [RefSeq, PubMed]; PCLAF promotes neuroblastoma G1/S cell cycle progression via the E2F1/PTTG1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; PCNA-binding protein that acts as a regulator of DNA repair during DNA replication. Following DNA damage, the interaction with PCNA is disrupted, facilitating the interaction between monoubiquitinated PCNA and the translesion DNA synthesis DNA polymerase eta (POLH) at stalled replisomes, facilitating the bypass of replication-fork-blocking lesions. Also acts as a regulator of centrosome number., [UniProtKB, PubMed, PubMed]; The PCNA-associated factor KIAA0101/p15(PAF) binds the potential tumor suppressor product p33ING1b., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 6, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 2, "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": "A6NNU5;A8K3Y3;G9G694;G9G696", "ec_number_list": "", "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006281 DNA repair;GO:0006260 DNA replication;GO:0006974 DNA damage response;GO:0009411 response to UV;GO:0007098 centrosome cycle", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q15004-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P60174-1", "uniprot_id": "TPIS_HUMAN", "mass": 26669.0, "length": 249, "protein_name": "Triosephosphate isomerase", "gene_name": "TPI1", "organism": "Human", "refseq_name": "triosephosphate isomerase isoform 1", "refseq_ac": "NP_000356", "gene_names_uniprotkb": "TPI1; TPI", "gene_names_refseq": "HEL-S-49; TIM; TPI1; TPID; TPI", "protein_names_uniprotkb": "Triosephosphate isomerase; 4.2.3.3; 5.3.1.1; Methylglyoxal synthase; TIM; Triose-phosphate isomerase", "protein_names_refseq": "epididymis secretory protein Li 49; methylglyoxal synthase; triose-phosphate isomerase; triosephosphate isomerase isoform 1", "tax_id": 9606, "disease": "triosephosphate isomerase deficiency (Disease Ontology:DOID:0050884); neurodegenerative disease (Disease Ontology:DOID:1289); cancer (Disease Ontology:DOID:162); carbohydrate metabolic disorder (Disease Ontology:DOID:2978); ocular hypertension (Disease Ontology:DOID:9282)", "pathway": " (hsa:7167); (R-HSA-70171); (R-HSA-70263)", "pathway_count": 3, "publication_count": 168, "publication_id_list": "10.1101/2023.09.13.557529;10209987;10229653;10714828;11237011;11371164;11506403;11698297;11780755;11851336;12093795;12437512;12616532;1278465;12965206;12965222;1339398;13538944;14718531;14722102;15710582;16511037;16807684;17081983;17322306;17334368;17693683;17804405;17924679;18337460;183598;18449899;18452278;18510355;18562316;18613815;18669648;1871135;18767875;18910716;18910717;18927083;19118303;19367720;19413330;19608861;19615748;19651622;19664995;19690332;20058876;20068231;20374271;21406692;21949678;22219026;22905912;23168256;23186163;23446454;23506893;24129315;24190977;24275569;2462567;25114211;25576301;25645385;25648650;2579079;27090790;2793178;28218747;2846554;28514659;2876430;28832583;29242379;2925688;29314611;29393594;29508533;2960695;29632711;30192525;30517626;30524438;30573663;30626607;30833945;3170585;31848261;3208766;32157095;32873690;32938616;32983136;33043033;33298915;3355497;33592498;33691108;33912179;33968037;34078123;34087483;34171305;34211107;34357683;34433824;3453121;34561969;34782236;34932366;35051231;35154160;35251023;3529090;35561310;35580925;36010968;36215666;37074911;37938771;38130074;38632101;4022011;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7573034;7628118;7717389;7825568;7989588;8061610;8117307;8211187;8244340;8325892;8447317;8503454;8571957;8645161;8723724;8786021;9074930;9150946;9150948;9338582;9382095;9428641;9438414;9493266;9585002;9657976;9678974;9758626", "class_list": "glycogene", "function": "Generation and analysis of TPI deficiency zebrafish model., [RefSeq, PubMed]; It is also responsible for the non-negligible production of methylglyoxal a reactive cytotoxic side-product that modifies and can alter proteins, DNA and lipids., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TPI1 promotes MAPK/ERK-induced EMT, cell migration and invasion in lung adenocarcinoma., [RefSeq, PubMed]; This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]., [RefSeq]; Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis., [UniProtKB, UniProtKB, UniProtKB, 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": 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": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 273, "reported_interactions": 0, "missing_score": 9696, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5D8;D3DUS9;P00938;Q6FHP9;Q6IS07;Q8WWD0;Q96AG5", "ec_number_list": "5.3.1.1;4.2.3.3", "go_molecular_function": "GO:0004807 triose-phosphate isomerase activity;GO:0042803 protein homodimerization activity;GO:0031625 ubiquitin protein ligase binding;GO:0008929 methylglyoxal synthase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0019563 glycerol catabolic process;GO:0006094 gluconeogenesis;GO:0006096 glycolytic process;GO:0061621 canonical glycolysis;GO:0019242 methylglyoxal biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "P60174-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N4F4-2", "uniprot_id": "S22AO_HUMAN", "mass": 61701.0, "length": 552, "protein_name": "Steroid transmembrane transporter SLC22A24", "gene_name": "SLC22A24", "organism": "Human", "refseq_name": "steroid transmembrane transporter SLC22A24 isoform 2", "refseq_ac": "NP_775857", "gene_names_uniprotkb": "SLC22A24", "gene_names_refseq": "NET46; SLC22A24", "protein_names_uniprotkb": "Steroid transmembrane transporter SLC22A24; Solute carrier family 22 member 24", "protein_names_refseq": "steroid transmembrane transporter SLC22A24 isoform 2; steroid transmembrane transporter SLC22A24", "tax_id": 9606, "disease": "", "pathway": " (hsa:283238)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "17714910;31092671;31154438;31553721", "class_list": "", "function": "Functional genomic studies reveal a previously uncharacterized protein involved in steroid homeostasis, opening up new possibilities for SLC22A24 as a pharmacological target for regulating steroid levels. Publication Status: Online-Only, [RefSeq, PubMed]; Lack of transporter activity., [UniProtKB, PubMed]; Renal transmembrane organic anion/dicarboxylate exchanger that participates in the reabsorption of conjugated steroids including estradiol-17beta-D-glucuronide (or 17beta-estradiol 17-O-(beta-D-glucuronate)), androstanediol glucuronide (or 5alpha-androstane-3alpha,17beta-diol 3-O-(beta-D-glucuronate)), and estrone 3-sulfate, as well as bile acids taurocholate and glycocholate, driven by an outward gradient of dicarboxylates such as glutarate or succinate., [UniProtKB, PubMed, PubMed]; SLC22A24 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]., [RefSeq]; Similar uptake function as Isoform 1., [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": "A0A087WWM3;C9JC66", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0015711 organic anion transport;GO:0008202 steroid metabolic process;GO:0035382 sterol transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8N4F4-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86VZ1-1", "uniprot_id": "P2RY8_HUMAN", "mass": 40635.0, "length": 359, "protein_name": "S-geranylgeranyl-glutathione receptor P2RY8", "gene_name": "P2RY8", "organism": "Human", "refseq_name": "S-geranylgeranyl-glutathione receptor P2RY8", "refseq_ac": "NP_835230", "gene_names_uniprotkb": "P2RY8", "gene_names_refseq": "P2RY8; P2Y8", "protein_names_uniprotkb": "S-geranylgeranyl-glutathione receptor P2RY8; P2Y purinoceptor 8; P2Y8", "protein_names_refseq": "G-protein coupled purinergic receptor P2Y8; P2Y purinoceptor 8; S-geranylgeranyl-glutathione receptor P2RY8; purinergic receptor P2Y, G-protein coupled, 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:286530)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;11004484;11237011;15466006;17487742;18491316;19349973;23481700;24190977;24714562;24715725;25274307;25576301;25892735;26154972;27846572;28467828;28514659;28649982;28904123;29242379;29437277;29493099;29557506;29769354;30410026;30842656;31844290;32350084;32387766;32502341;32983136;33141586;33298915;33717175;33812392;33936100;34088745;34211107;34357683;34561969;34889940;34932366;35154160;35580925;36581221", "class_list": "", "function": "G protein-coupled receptor for S-geranylgeranyl-glutathione (GGG), an endogenous metabolite present in lymphoid tissues. Couples the binding of GGG to the activation of GNA13 and downstream repression of AKT activation in lymphocytes defining their positioning and growth within lymphoid organs (PubMed:25274307, PubMed:30842656, PubMed:34088745). In lymphoid follicles, confines B cells and follicular helper T cells in germinal centers (GCs) in response to GGG local gradients established by GGT5 (via GGG catabolism) and ABCC1 (via extracellular transport) with lower concentrations of GGG found in the follicular dendritic cell network region around which germinal centers are formed (PubMed:25274307, PubMed:30842656, PubMed:34088745). In the bone marrow, also in response to GGG gradients established by GGT5 and ABCC1, it restricts chemotactic transmigration of B cells, T cells and NK cells from blood vessels to the bone marrow parenchyma (PubMed:30842656, PubMed:34088745). Contributes to GNA13-dependent pathway that suppresses GC B cell growth (PubMed:25274307)., [UniProtKB, PubMed, PubMed, PubMed]; P2RY8 is expressed in leukemic cells and has an unexpected role in the pathogenesis of acute leukemia, [RefSeq, PubMed]; P2RY8 variants in lupus patients uncover a role for the receptor in immunological tolerance., [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene is moderately expressed in undifferentiated HL60 cells, and is located on both chromosomes X and Y. [provided by RefSeq, Jul 2008]., [RefSeq]; [Clinical Features and Prognosis of Acute Lymphoblastic Leukemia Children with P2RY8-CRLF2 Gene Rearrangement]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0045028 G protein-coupled purinergic nucleotide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0160221 Rho-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q86VZ1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P07988-1", "uniprot_id": "PSPB_HUMAN", "mass": 42117.0, "length": 381, "protein_name": "Pulmonary surfactant-associated protein B", "gene_name": "SFTPB", "organism": "Human", "refseq_name": "pulmonary surfactant-associated protein B isoform 1 precursor", "refseq_ac": "NP_942140", "gene_names_uniprotkb": "SFTPB; SFTP3", "gene_names_refseq": "PSP-B; SFTB3; SFTP3; SFTPB; SMDP1; SP-B", "protein_names_uniprotkb": "Pulmonary surfactant-associated protein B; 18 kDa pulmonary-surfactant protein; 6 kDa protein; Pulmonary surfactant-associated proteolipid SPL(Phe); SP-B", "protein_names_refseq": "pulmonary surfactant-associated protein B isoform 1 precursor; pulmonary surfactant-associated proteolipid SPL(Phe)", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); combined saposin deficiency (Disease Ontology:DOID:0111330); respiratory failure (Disease Ontology:DOID:11162); adult respiratory distress syndrome (Disease Ontology:DOID:11394); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); lung cancer (Disease Ontology:DOID:1324); toxic shock syndrome (Disease Ontology:DOID:14115); cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); pneumonia (Disease Ontology:DOID:552); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6439); (R-HSA-5683826); (R-HSA-5688031); (R-HSA-5688849); (R-HSA-5688890)", "pathway_count": 5, "publication_count": 84, "publication_id_list": "10368295;10378403;10485905;10496952;10571948;10580105;10625644;10798379;11063734;11076040;11237011;11278984;11563989;12185598;12356334;12882447;1325798;1339284;1415726;1568474;15926889;15927881;16006481;16199866;16333843;1636732;16423266;16630564;17496061;17507829;17845058;18020944;18692472;18828060;18955570;1898081;19100526;19144824;1928448;19824815;20054143;20147294;20338813;20418254;21075760;21205713;23069847;23590306;23684610;23922714;24743970;2515193;25424900;2587265;2610270;2924687;29557506;2995821;3035561;3037072;31844290;32157095;3343343;3366248;34631;35051231;35121658;35300983;35580925;35689653;3597440;36460583;3755136;3801783;40930100;7491219;7597036;8163685;8314870;8428971;8522976;8527267;8636114;9813380", "class_list": "glycogene", "function": "A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C., [RefSeq, PubMed]; Intra-amniotic infection was associated with an increased amniotic fluid concentration of SP-B in patients who received antenatal corticosteroids within 7 days prior to amniocentesis., [RefSeq, PubMed]; Pulmonary surfactant protein B carried by HDL predicts incident CVD in patients with type 1 diabetes., [RefSeq, PubMed]; Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per meter., [UniProtKB, UniProtKB, UniProtKB]; SFTPB (rs11130866) and NR3C1 (rs41423247) gene variants as potential clinical biomarkers for personalized treatment strategy selection in patients with severe COVID-19 pneumonia., [RefSeq, PubMed]; Silica nanoparticle exposure inhibits surfactant protein A and B in A549 cells through ROS-mediated JNK/c-Jun signaling pathway., [RefSeq, PubMed]; This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]., [RefSeq]; This is the first study to detect and characterize SP-B in human sinus mucosa. Furthermore, SP-B is significantly up-regulated in cystic fibrosis chronic rhinosinusitis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 2, "mined_o_glycosites": 2, "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": 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": 497, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 22, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q96R04", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005764 lysosome;GO:0005789 endoplasmic reticulum membrane;GO:0097208 alveolar lamellar body", "go_biological_process": "GO:0006665 sphingolipid metabolic process;GO:0007585 respiratory gaseous exchange by respiratory system;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P07988-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P28328-1", "uniprot_id": "PEX2_HUMAN", "mass": 34843.0, "length": 305, "protein_name": "Peroxisome biogenesis factor 2", "gene_name": "PEX2", "organism": "Human", "refseq_name": "peroxisome biogenesis factor 2", "refseq_ac": "NP_000309", "gene_names_uniprotkb": "PEX2; PAF1; PMP35; PMP3; PXMP3; RNF72", "gene_names_refseq": "PAF1; PBD5A; PBD5B; PEX2; PMP35; PMP3; PXMP3; RNF72; ZWS3", "protein_names_uniprotkb": "Peroxisome biogenesis factor 2; 2.3.2.27; 2.3.2.36; 35 kDa peroxisomal membrane protein; PAF-1; Peroxin-2; Peroxisomal membrane protein 3; Peroxisome assembly factor 1; RING finger protein 72", "protein_names_refseq": "35 kDa peroxisomal membrane protein; RING finger protein 72; peroxisomal membrane protein 3, 35kDa; peroxisome assembly factor 1; peroxisome biogenesis factor 2", "tax_id": 9606, "disease": "peroxisome biogenesis disorder 5A (Disease Ontology:DOID:0080480); Peroxisome biogenesis disorder 5B (Disease Ontology:DOID:0081434); Zellweger syndrome (Disease Ontology:DOID:905); peroxisomal disease (Disease Ontology:DOID:906)", "pathway": " (hsa:5828); (R-HSA-8866654); (R-HSA-9033241); (R-HSA-9603798)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10022913;10430017;10528859;10562279;10673331;10704444;10891359;11101887;11237011;11390669;11402059;11453642;11546814;11590176;11740563;11781871;11883941;11931631;12456682;12559034;12578380;12717447;12751901;12885776;12924628;1426230;14630978;14709540;15007061;15215855;15215856;1546315;15545321;15713480;15781447;15858711;16280322;16307923;16791427;16854980;16868077;16895967;16980692;17007944;17041890;17069900;17108083;17130289;17726030;18174172;18316726;18359941;18712838;18719106;18782765;19197237;19208625;19410543;19584060;19608861;19632994;19723507;20178365;20531392;20554521;21102411;21203937;21329877;21392394;21396873;21554508;21976670;21980954;22002062;22021426;22057399;22371489;22624858;22747494;23430938;23460677;23628762;23963456;24235149;24366607;24662292;24807418;24865970;24979766;25016021;25030448;25062251;25170678;25517356;25538232;25854684;25936802;26086376;26138649;26210183;26216882;26220973;26344566;26350214;26711259;26777132;27569044;27597759;27798111;28228285;28281558;28325759;28514659;28521612;28611990;28765278;28787099;29242379;29393594;31217245;31844290;32161166;33298915;33592498;34903883;40596516;7719337;7790377;8625414;8824437;8858165;8991089;9090381;9090382;9090383;9418908;9539740;9653144;9668159;9837948", "class_list": "", "function": "E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting PEX5 recycling (PubMed:24662292). The retrotranslocation channel is composed of PEX2, PEX10 and PEX12; each subunit contributing transmembrane segments that coassemble into an open channel that specifically allows the passage of PEX5 through the peroxisomal membrane (By similarity). PEX2 also regulates peroxisome organization by acting as a E3 ubiquitin-protein ligase (By similarity). PEX2 ubiquitinates PEX5 during its passage through the retrotranslocation channel: catalyzes monoubiquitination of PEX5 at 'Cys-11', a modification that acts as a signal for PEX5 extraction into the cytosol (By similarity). Required for pexophagy in response to starvation by mediating ubiquitination of peroxisomal proteins, such as PEX5 and ABCD3/PMP70 (PubMed:27597759). Also involved in the response to reactive oxygen species (ROS) by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of PNPLA2/ATGL, thereby regulating lipolysis (PubMed:34903883)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; The cause of the syndrome in this patient was a point mutation that resulted in the premature termination of peroxisome assembly factor-1., [RefSeq, PubMed]; This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q567S6;Q9BW41", "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;3.6.4.-;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;3.1.2.-;7.6.2.-;2.3.2.36;1.14.13.39;4.1.3.4;2.3.1.137;2.3.1.7;2.3.2.24;2.3.2.23;5.3.3.21;2.3.1.65;3.4.21.-;1.5.3.13;3.4.21.53;7.4.2.-;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:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0008320 protein transmembrane transporter activity", "go_cellular_component": "GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0016020 membrane;GO:0016593 Cdc73/Paf1 complex", "go_biological_process": "GO:0044721 protein import into peroxisome matrix, substrate release;GO:0000038 very long-chain fatty acid metabolic process;GO:0006635 fatty acid beta-oxidation;GO:0007031 peroxisome organization;GO:0050680 negative regulation of epithelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "P28328-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UDY6-1", "uniprot_id": "TRI10_HUMAN", "mass": 55037.0, "length": 481, "protein_name": "Tripartite motif-containing protein 10", "gene_name": "TRIM10", "organism": "Human", "refseq_name": "tripartite motif-containing protein 10 isoform 1", "refseq_ac": "NP_006769", "gene_names_uniprotkb": "TRIM10; RFB30; RNF9", "gene_names_refseq": "HERF1; RFB30; RNF9; TRIM10", "protein_names_uniprotkb": "Tripartite motif-containing protein 10; B30-RING finger protein; RING finger protein 9", "protein_names_refseq": "B30-RING finger protein; Zn-finger protein; hematopoietic RING finger 1; ring finger protein 9; tripartite motif protein 10; tripartite motif-containing protein 10 isoform 1; tripartite motif-containing protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:10107); (R-HSA-877300)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10067896;10986460;11331580;11972023;12040185;12438563;12446674;12915721;1396683;14586410;14722222;1508672;15143187;15322115;15388922;15530433;16237089;16467876;16702430;17125875;18362138;18591661;20049711;20130243;20304997;20363976;23061660;24417533;29242379;32983136;32997424;33239784;33811647;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706;9271628", "class_list": "", "function": "E3 ligase that plays an essential role in the differentiation and survival of terminal erythroid cells. May directly bind to PTEN and promote its ubiquitination, resulting in its proteasomal degradation and activation of hypertrophic signaling (By similarity). In addition, plays a role in immune response regulation by repressing the phosphorylation of STAT1 and STAT2 in the interferon/JAK/STAT signaling pathway independent of its E3 ligase activity. Mechanistically, interacts with the intracellular domain of IFNAR1 and thereby inhibits the association between TYK2 and IFNAR1 (PubMed:33811647)., [UniProtKB, PubMed, UniProtKB]; Oncogenic gene TRIM10 confers resistance to cisplatin in osteosarcoma cells and activates the NF-kappaB signaling pathway., [RefSeq, PubMed]; TRIM10 binds to IFN-alpha/beta receptor 1 to negatively regulate type I IFN signal transduction., [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. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates 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": 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": "A6NF84;Q5SRJ5;Q5SRK8;Q86Z08;Q96QB6;Q9C023;Q9C024", "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:0046597 host-mediated suppression of symbiont invasion", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9UDY6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43541-1", "uniprot_id": "SMAD6_HUMAN", "mass": 53497.0, "length": 496, "protein_name": "SMAD family member 6", "gene_name": "SMAD6", "organism": "Human", "refseq_name": "SMAD family member 6", "refseq_ac": "NP_005576", "gene_names_uniprotkb": "SMAD6; MADH6", "gene_names_refseq": "AOVD2; HsT17432; MADH6; MADH7; SMAD6", "protein_names_uniprotkb": "SMAD family member 6; MAD homolog 6; Mothers against DPP homolog 6; Mothers against decapentaplegic homolog 6; SMAD 6; hSMAD6", "protein_names_refseq": "MAD homolog 6; SMAD family member 6; SMAD, mothers against DPP homolog 6; mothers against decapentaplegic homolog 6; mothers against decapentaplegic, drosophila, homolog of, 6", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); craniosynostosis 7 (Disease Ontology:DOID:0060912); aortic valve disease 2 (Disease Ontology:DOID:0080334); nephritis (Disease Ontology:DOID:10952); pulmonary hypertension (Disease Ontology:DOID:6432); radioulnar synostosis (Disease Ontology:DOID:9827)", "pathway": " (hsa:4091); (R-HSA-201451); (R-HSA-8941326)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10458166;10587654;10647776;10708948;10708949;10712517;10722652;11016919;11121043;11158580;11237011;11278251;11284962;11483516;11509558;11571290;11714695;11779505;12151385;12519765;12592392;12821673;12857866;14657019;16299379;16491121;16601693;16672363;16951688;17029022;17068149;17215250;17311849;17356069;19032685;19561075;19585539;21791611;22275001;23455153;24715725;25576301;27600516;27606499;28847510;29242379;29557506;30796334;30848080;31138930;31154438;31492838;32387766;32499606;32938616;33968037;35051231;35957556;37787089;38290823;38913236;7644468;7791754;8119126;8653785;8673135;8893010;9136927;9436979;9712726;9759503", "class_list": "", "function": "Acts as an inhibitory regulator of signaling mediated by the TGF-beta superfamily, with strong selectivity toward BMP-dependent pathways (PubMed:10647776, PubMed:10708948, PubMed:10708949, PubMed:16951688, PubMed:22275001, PubMed:30848080, PubMed:9436979, PubMed:9759503). Suppresses IL1R-TLR signaling through its direct interaction with PEL1, preventing NF-kappa-B activation, nuclear translocation and NF-kappa-B-mediated expression of pro-inflammatory genes (PubMed:16951688). Blocks the BMP-SMAD1 signaling pathway by competing with SMAD4 for receptor-activated SMAD1-binding (PubMed:30848080, PubMed:9436979). Associates with regulatory elements in target promoter regions (PubMed:16491121). Functions as an adapter protein that recruits ubiquitin ligases, including SMURF1 and, in some contexts, SMURF2, promoting proteasomal degradation of signaling components and transcription factors such as RUNX2, TBX6, BMPR1A and MYD88 (PubMed:16299379, PubMed:19561075, PubMed:28847510)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway., [RefSeq, PubMed]; Down-regulation of hsa-circ-0107593 promotes osteogenic differentiation of hADSCs via miR-20a-5p/SMAD6 signaling., [RefSeq, PubMed]; Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development., [RefSeq, PubMed]; Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. Publication Status: Online-Only, [RefSeq, PubMed]; Splice variant Smad6B, in human prostatic and rodent testicular cell lines, exhibits a truncated C-terminus lacking the entire MH-2 domain and most parts of the linker region., [RefSeq, PubMed]; The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 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": 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": 4, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A9J6M5;O43654;Q15799;Q7Z7L4;Q96E31;Q9UKZ3", "ec_number_list": "", "go_molecular_function": "GO:0070410 co-SMAD binding;GO:0003682 chromatin binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0071144 heteromeric SMAD protein complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006955 immune response;GO:0008285 negative regulation of cell population proliferation;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "O43541-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75864-1", "uniprot_id": "PPR37_HUMAN", "mass": 74767.0, "length": 691, "protein_name": "Protein phosphatase 1 regulatory subunit 37", "gene_name": "PPP1R37", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 37", "refseq_ac": "NP_061994", "gene_names_uniprotkb": "PPP1R37; KIAA1986; LRRC68", "gene_names_refseq": "LRRC68; PPP1R37", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 37; Leucine-rich repeat-containing protein 68", "protein_names_refseq": "leucine rich repeat containing 68; leucine-rich repeat-containing protein 68; protein phosphatase 1 regulatory subunit 37", "tax_id": 9606, "disease": "", "pathway": " (hsa:284352)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;12107411;18669648;19389623;23186163;25576301;26992070;27600516;28514659;28904123;29393594;29557506;29632046;29789417;30192525;30429286;30779550;31844290;32157095;32161166;32387766;32488085;32938616;32983136;33141586;33912179;33968037;33981976;35051231;35251023;35580925;36284347", "class_list": "", "function": "Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "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": "B5MDA4;Q8IWK3;Q8TF16", "ec_number_list": "", "go_molecular_function": "GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "O75864-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5E6-1", "uniprot_id": "PCDB3_HUMAN", "mass": 86714.0, "length": 796, "protein_name": "Protocadherin beta-3", "gene_name": "PCDHB2; PCDHB3", "organism": "Human", "refseq_name": "protocadherin beta-3 precursor", "refseq_ac": "NP_061760", "gene_names_uniprotkb": "PCDHB2; PCDHB3; PCDHB2", "gene_names_refseq": "PCDH-BETA3; PCDHB3", "protein_names_uniprotkb": "Protocadherin beta-3; PCDH-beta-3", "protein_names_refseq": "protocadherin beta-3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56132)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10380929;11237011;11322959;29537081;29741879;31848261;33592498;33968037;34087483;34171305;35051231", "class_list": "", "function": "PCDHB3 may function as a novel tumor suppressor in colorectal via inhibition of the NF-kappaB pathway, and its expression and localization may serve as prognostic markers for advanced CRc., [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [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": 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": 60, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R8P2", "ec_number_list": "", "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9Y5E6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q16822-1", "uniprot_id": "PCKGM_HUMAN", "mass": 70699.0, "length": 640, "protein_name": "Phosphoenolpyruvate carboxykinase [GTP], mitochondrial", "gene_name": "PCK2", "organism": "Human", "refseq_name": "phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 3", "refseq_ac": "NP_001278485", "gene_names_uniprotkb": "PCK2; PEPCK2", "gene_names_refseq": "PCK2; PEPCK-M; PEPCK2; PEPCK; mtPCK2", "protein_names_uniprotkb": "Phosphoenolpyruvate carboxykinase [GTP], mitochondrial; 2.7.11.-; 4.1.1.32; PEPCK-M; Phosphoenolpyruvate carboxykinase 2, mitochondrial; Serine/threonine-protein kinase PCK2; mtPCK2", "protein_names_refseq": "PEP carboxykinase; epididymis secretory sperm binding protein; phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 3; phosphoenolpyruvate carboxykinase [GTP], mitochondrial; phosphopyruvate carboxylase; serine/threonine-protein kinase PCK2", "tax_id": 9606, "disease": "phosphoenolpyruvate carboxykinase deficiency, mitochondrial (MONDO:MONDO:0009864)", "pathway": " (hsa:5106); (R-HSA-70263)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10229653;10714828;11237011;11506403;11851336;12093795;12437512;1278465;12916001;12965222;14718531;14722102;15315819;15710582;16132948;17097062;18337460;183598;18449899;18613815;19118303;21949678;23481700;23506893;24275569;26375851;27452731;28510447;28832583;28955899;29242379;29393594;29557506;29769354;30315122;30379171;30397120;31217245;3170585;31844290;3208766;32157095;32387766;32938616;33141586;33465208;3355497;33968037;34171305;34229054;34725712;35051231;3529090;36845668;38665916;38697449;38720107;38890507;39014441;39894887;40596516;40914422;4827367;5009693;6434534;6771269;7144574;7391027;7573034;7717389;8211187;8447317;8571957;8645161;9382095;9428641;9585002;9657976;9678974;9758626", "class_list": "", "function": "Association of mitochondrial phosphoenolpyruvate carboxykinase with prognosis and immune regulation in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Dysregulation of phosphoenolpyruvate carboxykinase in cancers: A comprehensive analysis., [RefSeq, PubMed]; Mitochondrial phosphoenolpyruvate carboxykinase that catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle (PubMed:28955899). Can play an active role in glyceroneogenesis and gluconeogenesis (PubMed:28955899). Also acts as a serine/threonine-protein kinase: phosphorylates and activates ACSL4, thereby promoting ferroptosis (PubMed:38720107)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Results suggest that pepck2 gene expression is regulated by its 5' flanking region up to 822 bp, and 317 bp upstream of transcriptional start point., [RefSeq, PubMed]; Targeting SOX4/PCK2 signaling suppresses neuroendocrine trans-differentiation of castration-resistant prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]., [RefSeq]; Wild-type AREBP, but not Ser(470) to Ala(470) substituted non-phosphorylating mutant, represses gene expression of the phosphoenolpyruvate carboxykinase (PEPCK), a key enzyme of gluconeogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DW73;O43253;Q86U01;Q9BV62", "ec_number_list": "2.7.11.1;2.7.11.21;2.7.12.2;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;2.7.11.23;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.-;4.1.1.32;2.7.11.-;2.7.11.26;2.7.11.31;2.3.2.27;2.7.11.12;2.7.11.17;2.7.11.8;2.7.11.19;3.6.5.-;2.7.11.38;2.7.11.34;3.6.-.-;3.6.1.-", "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005525 GTP binding;GO:0030145 manganese ion binding;GO:0004613 phosphoenolpyruvate carboxykinase (GTP) activity;GO:0004611 phosphoenolpyruvate carboxykinase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0046327 glycerol biosynthetic process from pyruvate;GO:0032869 cellular response to insulin stimulus;GO:0042594 response to starvation;GO:0071333 cellular response to glucose stimulus;GO:0006094 gluconeogenesis", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q16822-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3ZCN5-1", "uniprot_id": "OTOGL_HUMAN", "mass": 264612.0, "length": 2353, "protein_name": "Otogelin-like protein", "gene_name": "OTOGL", "organism": "Human", "refseq_name": "otogelin-like protein isoform 1 precursor", "refseq_ac": "NP_001365538", "gene_names_uniprotkb": "OTOGL; C12orf64", "gene_names_refseq": "C12orf64; DFNB84B; OTOGL", "protein_names_uniprotkb": "Otogelin-like protein", "protein_names_refseq": "otogelin-like protein isoform 1 precursor; otogelin-like protein", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 84B (Disease Ontology:DOID:0110530)", "pathway": " (hsa:283310); (R-HSA-9662361)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "10821263;11237011;16959974;23122586;24378291;25829320;33455126", "class_list": "", "function": "OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss., [RefSeq, PubMed]; Patients with OTOGL mutation show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good and vestibular hyporeflexia is present., [RefSeq, PubMed]; The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]., [RefSeq]; We identified novel biallelic OTOGL mutations in a Chinese autosomal recessive non-syndromic hearing loss family., [RefSeq, PubMed]; [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene]., [RefSeq, PubMed]", "predicted_glycosites": 10, "predicted_n_glycosites": 8, "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": 86, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "F8W0C3;Q495U8;Q8N8G5;Q8NC28", "ec_number_list": "", "go_molecular_function": "GO:0005201 extracellular matrix structural constituent;GO:0046556 alpha-L-arabinofuranosidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0005576 extracellular region", "go_biological_process": "GO:0046373 L-arabinose metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q3ZCN5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A6NKX4-1", "uniprot_id": "S22AV_HUMAN", "mass": 58815.0, "length": 556, "protein_name": "Putative solute carrier family 22 member 31", "gene_name": "SLC22A31", "organism": "Human", "refseq_name": "putative solute carrier family 22 member 31 isoform a", "refseq_ac": "NP_001371692", "gene_names_uniprotkb": "SLC22A31", "gene_names_refseq": "SLC22A31", "protein_names_uniprotkb": "Putative solute carrier family 22 member 31", "protein_names_refseq": "putative solute carrier family 22 member 31 isoform a; putative solute carrier family 22 member 31; putative solute carrier family 22 member ENSG00000182157", "tax_id": 9606, "disease": "", "pathway": " (hsa:146429)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;31530632;32350084;32387766;33968037;35051231;35494241;38253038", "class_list": "", "function": "Organic anion transporter that mediates the uptake of ions., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A804HL90;S4R3Q8", "ec_number_list": "", "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006811 monoatomic ion transport", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A6NKX4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P55771-1", "uniprot_id": "PAX9_HUMAN", "mass": 36310.0, "length": 341, "protein_name": "Paired box protein Pax-9", "gene_name": "PAX9", "organism": "Human", "refseq_name": "paired box protein Pax-9", "refseq_ac": "NP_006185", "gene_names_uniprotkb": "PAX9", "gene_names_refseq": "PAX9; STHAG3", "protein_names_uniprotkb": "Paired box protein Pax-9", "protein_names_refseq": "paired box protein Pax-9; paired domain gene 9", "tax_id": 9606, "disease": "tooth agenesis (Disease Ontology:DOID:0050591)", "pathway": " (hsa:5083)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10899593;11237011;12657635;12786960;24715725;26758079;29242379;29557506;31844290;33691108;34171305;35051231;36241641;36702222;36995881;37005710;37184613;38140866;7981748;9021154", "class_list": "", "function": "An inclusive study of deleterious missense PAX9 variants using user-friendly tools reveals structural, functional alterations, as well as potential therapeutic targets., [RefSeq, PubMed]; Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants. Publication Status: Online-Only, [RefSeq, PubMed]; PAX9 mutations and genetic synergism in familial tooth agenesis., [RefSeq, PubMed]; The phenotype and genotype of PAX9 mutations causing tooth agenesis., [RefSeq, PubMed]; This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]., [RefSeq]; Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs., [UniProtKB, PubMed, UniProtKB, UniProtKB]; [miR-181b-5p promotes cell proliferation and induces apoptosis in human acute myeloid leukemia by targeting PAX9]., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 13, "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": "Q99582;Q9UQR4", "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:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P55771-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49585-1", "uniprot_id": "PCY1A_HUMAN", "mass": 41731.0, "length": 367, "protein_name": "Choline-phosphate cytidylyltransferase A", "gene_name": "PCYT1A", "organism": "Human", "refseq_name": "choline-phosphate cytidylyltransferase A", "refseq_ac": "NP_001299602", "gene_names_uniprotkb": "PCYT1A; CTPCT; PCYT1", "gene_names_refseq": "CCTA; CCTalpha; CGL5; CTA; CTPCT; CT; PCYT1A; PCYT1; SMDCRD", "protein_names_uniprotkb": "Choline-phosphate cytidylyltransferase A; 2.7.7.15; CCT A; CCT-alpha; CT A; CTP:phosphocholine cytidylyltransferase A; Phosphorylcholine transferase A", "protein_names_refseq": "CCT A; CCT-alpha; CT A; CTP:phosphocholine cytidylyltransferase A; CTP:phosphocholine cytidylyltransferase-alpha; choline-phosphate cytidylyltransferase A; choline-phosphate cytidylyltransferase alpha; phosphate cytidylyltransferase 1, choline, alpha; phosphorylcholine transferase A; phosphorylcholine transferase alpha", "tax_id": 9606, "disease": "congenital generalized lipodystrophy (Disease Ontology:DOID:0050585); spondylometaphyseal dysplasia with cone-rod dystrophy (Disease Ontology:DOID:0112300); lipodystrophy, congenital generalized, type 5 (MONDO:MONDO:0958023)", "pathway": " (hsa:5130); (R-HSA-1483191)", "pathway_count": 2, "publication_count": 139, "publication_id_list": "10100195;10191259;10480912;10677542;10893425;11068039;11237011;11420179;11698453;12055623;12216837;12221122;14973250;15069071;15175005;15715662;15788406;15911624;16964243;17007874;17081983;17158099;17322306;17561512;18212344;18669648;18691976;18694939;18767875;18991276;19413330;19415658;19608861;19651622;19664995;19690332;19915674;20058876;20068231;20338778;21406692;21926997;22617051;22645359;23186163;23301498;23328280;23481700;23901139;24275569;24366607;24387990;24387991;24714562;24715725;24732803;24828044;24889630;25576301;25645385;26005868;26024233;26048993;26154972;26375851;26728094;26945070;26992070;27543614;27846572;27862975;27869121;27920218;28218747;28649982;28821867;28832583;28834231;28855257;28904123;29242379;29437277;29493099;29508533;29557506;29786170;30315122;30410026;30429286;30484775;30524438;30559292;3057511;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32703435;32897882;32938616;32983136;33123756;33298915;33392160;33521992;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;38665916;40914422;7918629;8155650;8810902;9593753", "class_list": "", "function": "Catalyzes the key rate-limiting step in the CDP-choline pathway for phosphatidylcholine biosynthesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Methylome and transcriptome profiling revealed epigenetic silencing of LPCAT1 and PCYT1A associated with lipidome alterations in polycystic ovary syndrome., [RefSeq, PubMed]; PCYT1A suppresses proliferation and migration via inhibiting mTORC1 pathway in lung adenocarcinoma., [RefSeq, PubMed]; This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 4, "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": "A9LYK9;D3DXB1;Q86Y88", "ec_number_list": "2.7.7.15", "go_molecular_function": "GO:0004105 choline-phosphate cytidylyltransferase activity;GO:0005516 calmodulin binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0031210 phosphatidylcholine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006657 CDP-choline pathway;GO:0006656 phosphatidylcholine biosynthetic process;GO:0045190 isotype switching;GO:0042100 B cell proliferation", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "P49585-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H1D0-1", "uniprot_id": "TRPV6_HUMAN", "mass": 87286.0, "length": 765, "protein_name": "Transient receptor potential cation channel subfamily V member 6", "gene_name": "TRPV6", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily V member 6", "refseq_ac": "NP_061116", "gene_names_uniprotkb": "TRPV6; ECAC2", "gene_names_refseq": "ABP/ZF; CAT1; CATL; ECAC2; HRPTTN; HSA277909; LP6728; TRPV6; ZFAB", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily V member 6; CaT-L; CaT-like; CaT1; Calcium transport protein 1; ECaC2; Epithelial calcium channel 2; TrpV6", "protein_names_refseq": "Alu-binding protein with zinc finger domain; calcium transport protein 1; calcium transporter-like protein; epithelial apical membrane calcium transporter/channel CaT1; epithelial calcium channel 2; transient receptor potential cation channel subfamily V member 6", "tax_id": 9606, "disease": "pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714); hyperparathyroidism (Disease Ontology:DOID:13543); hyperparathyroidism, transient neonatal (MONDO:MONDO:0032591)", "pathway": " (hsa:55503); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "11050376;11097838;11208552;11226139;11237011;11243859;11248124;11278579;11301059;11545681;11549322;12015988;1422598;14634208;15184369;16717058;20025796;20716668;23612980;25389312;25559186;25765567;25855297;29258289;29557506;29861107;30820485;32387766;34509645;35051231;36010968;36284347;36599151;36858649;37098383;38253038", "class_list": "", "function": "A non-AUG start codon in used in both human and mouse, extending the N-terminus of the protein by 40 amino acids. The increased translation of the smaller TRPV6 cDNA version may overestimate the in vivo situation where translation efficiency may represent an additional mechanism to tightly control the TRPV6-mediated Ca(2+) entry to prevent deleterious Ca(2+) overload, [RefSeq, PubMed]; An overlooked African gene variant linked to the calcium selective channel TRPV6: A mini-review. Review article, [RefSeq, PubMed]; Biochemistry and pathophysiology of the Transient Potential Receptor Vanilloid 6 (TRPV6) calcium channel. Review article, [RefSeq, PubMed]; Calcium selective cation channel that mediates Ca(2+) uptake in various tissues, including the intestine (PubMed:11097838, PubMed:11248124, PubMed:11278579, PubMed:15184369, PubMed:23612980, PubMed:29258289). Important for normal Ca(2+) ion homeostasis in the body, including bone and skin (By similarity). The channel is activated by low internal calcium level, probably including intracellular calcium store depletion, and the current exhibits an inward rectification (PubMed:15184369). Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism; the latter may be regulated by phosphorylation. In vitro, is slowly inhibited by Mg(2+) in a voltage-independent manner. Heteromeric assembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Data suggest that the rate of TRPV6 protein evolution is significantly accelerated in the human lineage and that the TRPV6 haplotype defined by the derived alleles at C157R, M378V and M681T conferred a selective advantage., [RefSeq, PubMed]; Gene expressed in human duodenum, placenta and pancreas homologous with calcium transporters/channels in other species. Function proposed to be calcium entry channel at apical membrane., [RefSeq, PubMed]; The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis., [RefSeq, PubMed]; This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]., [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": 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": 5, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4D2I8;Q8TDL3;Q8WXR8;Q96LC5;Q9H1D1;Q9H296", "ec_number_list": "2.7.11.1", "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005516 calmodulin binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0005216 monoatomic ion channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0034704 calcium channel complex;GO:0016020 membrane", "go_biological_process": "GO:0051592 response to calcium ion;GO:0006816 calcium ion transport;GO:0070588 calcium ion transmembrane transport;GO:0055074 calcium ion homeostasis;GO:0017158 regulation of calcium ion-dependent exocytosis", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9H1D0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZW2-1", "uniprot_id": "S13A1_HUMAN", "mass": 66134.0, "length": 595, "protein_name": "Solute carrier family 13 member 1", "gene_name": "SLC13A1", "organism": "Human", "refseq_name": "solute carrier family 13 member 1 isoform 2", "refseq_ac": "NP_001311329", "gene_names_uniprotkb": "SLC13A1; NAS1; NASI1", "gene_names_refseq": "NAS1; NaSi-1; SLC13A1", "protein_names_uniprotkb": "Solute carrier family 13 member 1; Na(+)/sulfate cotransporter; Renal sodium/sulfate cotransporter; hNaSi-1", "protein_names_refseq": "Na(+)/sulfate cotransporter; renal sodium/sulfate cotransporter; solute carrier family 13 (sodium/sulfate symporters), member 1; solute carrier family 13 (sodium/sulphate symporters), member 1; solute carrier family 13 member 1 isoform 2", "tax_id": 9606, "disease": "alcohol-related neurodevelopmental disorder (Disease Ontology:DOID:0050667); Kohlschutter-Tonz syndrome (Disease Ontology:DOID:0111668); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:6561); (R-HSA-433137)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10535998;11161786;11237011;12857732;12867358;15607730;19401682;29557506;31844290;32938616;33912179;35051231;35110524;36175384;36566486;36943258;38552027;39576865", "class_list": "", "function": "Amino acid residue Asn591, located in the carboxyl (COOH) terminus of NaSi-1, is used as the glycosylation site and is critical for transport activity in NaSi-1., [RefSeq, PubMed]; Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia., [RefSeq, PubMed]; Cryo-EM structures of the human NaS1 and NaDC1 transporters revealed the elevator transport and allosteric regulation mechanism., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology. Erratum:[Nat Commun. 2022 Apr 27;13(1):2419. doi: 10.1038/s41467-022-30129-6. PMID: 35477715] Publication Status: Online-Only, [RefSeq, PubMed]; Rare variant analyses in large-scale cohorts identified SLC13A1 associated with chronic pain., [RefSeq, PubMed]; Serines 260 and 288 are involved in sulfate transport by hNaSi-1., [RefSeq, PubMed]; Serum sulfate level and Slc13a1 mRNA expression remain unaltered in a mouse model of moderate vitamin D deficiency., [RefSeq, PubMed]; Sodium:sulfate symporter that mediates sulfate reabsorption in the kidney and small intestine (PubMed:11161786, PubMed:38552027, PubMed:39576865). Can also mediate the transport of selenate and thiosulfate (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]., [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": 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": 8, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H5Z0", "ec_number_list": "", "go_molecular_function": "GO:0015382 sodium:sulfate symporter activity;GO:0015373 monoatomic anion:sodium symporter activity;GO:0015370 solute:sodium symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0006814 sodium ion transport;GO:1902358 sulfate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9BZW2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q969T4-1", "uniprot_id": "UB2E3_HUMAN", "mass": 22913.0, "length": 207, "protein_name": "Ubiquitin-conjugating enzyme E2 E3", "gene_name": "UBE2E3", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 E3", "refseq_ac": "NP_001265483", "gene_names_uniprotkb": "UBE2E3; UBCE4; UBCH9", "gene_names_refseq": "UBCH9; UBE2E3; UbcM2", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 E3; 2.3.2.23; E2 ubiquitin-conjugating enzyme E3; UbcH9; Ubiquitin carrier protein E3; Ubiquitin-conjugating enzyme E2-23 kDa; Ubiquitin-protein ligase E3", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme E3; ubiquitin carrier protein E3; ubiquitin conjugating enzyme E2E 3; ubiquitin-conjugating enzyme E2 E3; ubiquitin-conjugating enzyme E2-23 kDa; ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast); ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5); ubiquitin-protein ligase E3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10477); (R-HSA-8866652); (R-HSA-983168)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10343118;11062501;11237011;11350924;12646216;14734113;15224091;15224092;15545318;15571818;16142244;16595681;16849449;16954532;17580310;17597759;18353650;18662542;19028597;19352404;19413330;19452197;19489725;19851334;19874575;19940261;20061386;20068231;2261476;24275569;24714562;24715725;25892735;26235645;26728094;26811146;26992070;27237050;27397612;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30429286;30833945;31217245;31844290;31848261;32157095;32502341;32897882;32938616;32983136;33298915;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35318648;35580925;36010968;36241641;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-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Participates in the regulation of transepithelial sodium transport in renal cells., [UniProtKB, PubMed, PubMed, PubMed]; The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAD6;D3DPG3;Q5U0R7;Q7Z4W4", "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:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0070979 protein K11-linked ubiquitination;GO:0070936 protein K48-linked ubiquitination;GO:0070534 protein K63-linked ubiquitination;GO:0006513 protein monoubiquitination;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q969T4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43933-1", "uniprot_id": "PEX1_HUMAN", "mass": 142867.0, "length": 1283, "protein_name": "Peroxisomal ATPase PEX1", "gene_name": "PEX1", "organism": "Human", "refseq_name": "peroxisomal ATPase PEX1 isoform 1", "refseq_ac": "NP_000457", "gene_names_uniprotkb": "PEX1", "gene_names_refseq": "HMLR1; PBD1A; PBD1B; PEX1; ZWS1; ZWS", "protein_names_uniprotkb": "Peroxisomal ATPase PEX1; 3.6.4.-; Peroxin-1; Peroxisome biogenesis disorder protein 1; Peroxisome biogenesis factor 1", "protein_names_refseq": "Zellweger syndrome; peroxin-1; peroxisomal ATPase PEX1 isoform 1; peroxisomal ATPase PEX1; peroxisome biogenesis disorder protein 1", "tax_id": 9606, "disease": "peroxisomal biogenesis disorder (Disease Ontology:DOID:0080377); peroxisome biogenesis disorder 1A (Disease Ontology:DOID:0080476); Heimler syndrome 1 (Disease Ontology:DOID:0080623); peroxisome biogenesis disorder 1B (Disease Ontology:DOID:0081240); Zellweger syndrome (Disease Ontology:DOID:905)", "pathway": " (hsa:5189); (R-HSA-9033241)", "pathway_count": 2, "publication_count": 145, "publication_id_list": "10022913;10562279;10673331;11101887;11237011;11439091;11546814;11781871;11931631;12456682;12559034;12578380;12717447;12885776;15545321;15858711;16088892;16314507;16854980;17007944;17525332;17726030;18359941;18669648;18712838;19105186;19197237;19208625;19413330;19584060;19632994;19651622;19664994;19664995;20068231;20166139;20178365;21362118;21554508;21976670;21980954;22002062;22057399;22371489;22747494;23186163;23481700;23963456;24235149;24715725;24865970;25016021;25418920;25505266;25538232;25645385;25854684;25880248;26086376;26138649;26154972;26220973;26344566;26387595;26992070;27302843;27597759;27600516;27846572;28218747;28228285;28514659;28521612;28611990;28765278;28787099;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29786170;29884772;30315122;30410026;30429286;30484775;30779550;30833945;31020640;31154438;31217245;31844290;31848261;32069232;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33708531;33912179;33955040;33968037;34078123;34171305;34185709;34357683;34405274;34561969;34932366;35051231;35318648;35580925;36010968;36215666;36534601;37092661;37385119;38664000;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9398847;9398848;9539740;9653144;9668159;9837948", "class_list": "", "function": "Comparison of human PEX knockout cell lines suggests a dual role of PEX1 in peroxisome biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycling (PubMed:11439091, PubMed:16314507, PubMed:16854980, PubMed:21362118, PubMed:29884772). Specifically recognizes PEX5 monoubiquitinated at 'Cys-11', and pulls it out of the peroxisome lumen through the PEX2-PEX10-PEX12 retrotranslocation channel (PubMed:29884772). Extraction by the PEX1-PEX6 AAA ATPase complex is accompanied by unfolding of the TPR repeats and release of bound cargo from PEX5 (PubMed:29884772)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics., [RefSeq, PubMed]; Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants. Review article, [RefSeq, PubMed]; Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder., [RefSeq, PubMed]; This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 28, "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": "A4D1G3;A8KA90;B4DIM7;E9PE75;Q96S71;Q96S72;Q96S73;Q99994", "ec_number_list": "5.6.2.4;3.6.1.-;3.6.4.-;3.6.4.13;2.3.2.27;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;2.3.2.36;3.4.21.53;5.6.2.5;3.1.-.-;3.6.5.-;7.6.2.1;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:0140036 ubiquitin-modified protein reader activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0044877 protein-containing complex binding;GO:0140318 protein transporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043335 protein unfolding;GO:0007031 peroxisome organization;GO:0006625 protein targeting to peroxisome;GO:0016558 protein import into peroxisome matrix;GO:0060152 microtubule-based peroxisome localization", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "O43933-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P18669-1", "uniprot_id": "PGAM1_HUMAN", "mass": 28804.0, "length": 254, "protein_name": "Phosphoglycerate mutase 1", "gene_name": "PGAM1", "organism": "Human", "refseq_name": "phosphoglycerate mutase 1 isoform 1", "refseq_ac": "NP_002620", "gene_names_uniprotkb": "PGAM1; CDABP0006; PGAMA", "gene_names_refseq": "HEL-S-35; PGAM-B; PGAM1; PGAMA", "protein_names_uniprotkb": "Phosphoglycerate mutase 1; 5.4.2.11; 5.4.2.4; BPG-dependent PGAM 1; PGAM-B; Phosphoglycerate mutase isozyme B", "protein_names_refseq": "BPG-dependent PGAM 1; epididymis secretory protein Li 35; phosphoglycerate mutase 1 (brain); phosphoglycerate mutase 1 isoform 1; phosphoglycerate mutase A, nonmuscle form; phosphoglycerate mutase isozyme B", "tax_id": 9606, "disease": "", "pathway": " (hsa:5223); (R-HSA-6798695); (R-HSA-70171); (R-HSA-70263)", "pathway_count": 4, "publication_count": 144, "publication_id_list": "10229653;10714828;11371164;11506403;11780755;11851336;12093795;12189148;12437512;12616532;1278465;12965206;12965222;13538944;14718531;14722102;15710582;15883004;16408927;16511037;17804405;18083107;18337460;183598;18449899;18507432;18613815;18669648;1871135;18767875;18910716;18910717;18927083;19118303;19651622;19690332;20058876;20068231;20166139;21406692;21949678;22157007;22219026;23168256;23186163;23446454;23506893;23650620;23653202;24275569;2462567;25502872;25648650;26992070;2793178;28076845;2846553;2846554;28467828;28510447;29242379;29557506;2960695;30429286;30517626;30639960;31217245;3170585;31844290;3208766;32157095;32350084;32938616;32983136;33043033;33214551;33298915;33392160;3355497;33592498;33912179;33936100;33968037;34019948;34171305;34357683;34433824;3453121;34561969;34725712;34782236;34932366;35051231;35138101;35154160;35251023;3529090;35561310;35580925;36215666;36241641;36580660;36880587;37542027;37705495;37938771;38093528;38665916;38750301;40914422;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7573034;7717389;7825568;7989588;8117307;8211187;8325892;8447317;8571957;8645161;8692836;8786021;9150946;9382095;9428641;9438414;9493266;9585002;9657976;9678974;9758626", "class_list": "", "function": "Catalyzes the interconversion of 2-phosphoglycerate and 3-phosphoglycerate, a crucial step in glycolysis, by using 2,3-bisphosphoglycerate (PubMed:23653202). Also catalyzes the interconversion of (2R)-2,3-bisphosphoglycerate and (2R)-3-phospho-glyceroyl phosphate (PubMed:23653202)., [UniProtKB, PubMed]; Exosomal PGAM1 promotes prostate cancer angiogenesis and metastasis by interacting with ACTG1. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-324-3p inhibits osteosarcoma progression by suppressing PGAM1-mediated aerobic glycolysis., [RefSeq, PubMed]; PGAM1 Inhibition Promotes HCC Ferroptosis and Synergizes with Anti-PD-1 Immunotherapy., [RefSeq, PubMed]; Phosphoglycerate mutase 1 promotes breast cancer progression through inducing immunosuppressive M2 macrophages., [RefSeq, PubMed]; RFX6 facilitates aerobic glycolysis-mediated growth and metastasis of hepatocellular carcinoma through targeting PGAM1., [RefSeq, PubMed]; The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q9BWC0", "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;5.4.2.11;5.4.2.4;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;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:0004082 bisphosphoglycerate mutase activity;GO:0004619 phosphoglycerate mutase activity;GO:0016787 hydrolase activity;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0006094 gluconeogenesis;GO:0061621 canonical glycolysis", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "P18669-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61758-1", "uniprot_id": "PFD3_HUMAN", "mass": 22626.0, "length": 197, "protein_name": "Prefoldin subunit 3", "gene_name": "VBP1", "organism": "Human", "refseq_name": "prefoldin subunit 3 isoform 2", "refseq_ac": "NP_001290472", "gene_names_uniprotkb": "VBP1; PFDN3", "gene_names_refseq": "HIBBJ46; PFD3; PFDN3; VBP-1; VBP1", "protein_names_uniprotkb": "Prefoldin subunit 3; HIBBJ46; VBP-1; VHL-binding protein 1; von Hippel-Lindau-binding protein 1", "protein_names_refseq": "prefoldin subunit 3 isoform 2; prefoldin subunit 3; von Hippel-Lindau binding protein 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:7411); (R-HSA-389957)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10.1101/2023.09.13.557529;19608861;23301498;23481700;24714562;24715725;25418920;25576301;26375851;26728094;26992070;27600516;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632046;29786170;30315122;30429286;30484775;30524438;31217245;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34932366;35051231;35561310;35580925;36010968;36284347;37938771;38700744;39894887;8674032;9339366;9630229", "class_list": "", "function": "Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins., [UniProtKB, PubMed]; The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. The encoded protein functions as a chaperone protein, and may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. Alternative splicing and the use of alternate transcription start sites results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Jan 2015]., [RefSeq]; VBP1 promotes tumor proliferation as a part of the hypoxia-related signature in esophageal squamous cell carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R8L5;B4DWR3;F5H2A7;O55228;Q15765;Q5JT81;Q86X96", "ec_number_list": "", "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0001540 amyloid-beta binding;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016272 prefoldin complex", "go_biological_process": "GO:0050821 protein stabilization;GO:0006457 protein folding;GO:0007021 tubulin complex assembly;GO:1905907 negative regulation of amyloid fibril formation;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P61758-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75563-1", "uniprot_id": "SKAP2_HUMAN", "mass": 41217.0, "length": 359, "protein_name": "Src kinase-associated phosphoprotein 2", "gene_name": "SKAP2", "organism": "Human", "refseq_name": "src kinase-associated phosphoprotein 2 isoform 2", "refseq_ac": "NP_001290397", "gene_names_uniprotkb": "SKAP2; PRAP; RA70; SAPS; SCAP2; SKAP55R", "gene_names_refseq": "PRAP; RA70; SAPS; SCAP2; SKAP-HOM; SKAP2; SKAP55R", "protein_names_uniprotkb": "Src kinase-associated phosphoprotein 2; Pyk2/RAFTK-associated protein; Retinoic acid-induced protein 70; SKAP-55HOM; SKAP-HOM; SKAP55 homolog; Src family-associated phosphoprotein 2; Src kinase-associated phosphoprotein 55-related protein; Src-associated adapter protein with PH and SH3 domains", "protein_names_refseq": "Fyn-associated phosphoprotein SKAP55 homologue; Pyk2/RAFTK-associated protein; SKAP-55HOM; retinoic acid-induced protein 70; src family-associated phosphoprotein 2; src kinase-associated phosphoprotein 2 isoform 2; src kinase-associated phosphoprotein of 55-related protein; src-associated adapter protein with PH and SH3 domains", "tax_id": 9606, "disease": "", "pathway": " (hsa:8935); (R-HSA-391160)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "10469599;10572074;10942756;11237011;11301322;12023008;12893833;14531999;15294972;15383453;15592455;16213021;17070842;17074750;17081983;17369261;18657508;18669648;19628875;19807924;20112406;21719704;22645359;22869377;23186163;23481700;24275569;24714562;24715725;25418920;25576301;25645385;25892735;26375851;26728094;26992070;27543614;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;29568343;29632046;29769354;29789417;30315122;30410026;30429286;30779550;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34171305;34172489;34295339;34405274;34433824;34509645;34932366;35051231;35561310;35580925;36010968;36126383;36241641;37938771;38487529;9062191;9671755;9755858;9837776", "class_list": "", "function": "Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation., [RefSeq, PubMed]; May be involved in B-cell and macrophage adhesion processes. In B-cells, may act by coupling the B-cell receptor (BCR) to integrin activation. May play a role in src signaling pathway., [UniProtKB, PubMed, PubMed]; SKAP2 acts downstream of CD11b/CD18 and regulates neutrophil effector function. Publication Status: Online-Only, [RefSeq, PubMed]; SKAP2 is downregulated in the villous tissues of patients with missed abortion and regulates growth and migration in trophoblasts through the WAVE2-ARP2/3 signaling pathway., [RefSeq, PubMed]; The Multiple Roles of the Cytosolic Adapter Proteins ADAP, SKAP1 and SKAP2 for TCR/CD3 -Mediated Signaling Events. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 15, "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": "A4D173;Q53GP6;Q75MK6;Q75MZ4;Q9UBZ3;Q9UED8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0042113 B cell activation", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "O75563-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ICB4-1", "uniprot_id": "SESQ2_HUMAN", "mass": 28338.0, "length": 259, "protein_name": "Sesquipedalian-2", "gene_name": "PHETA2", "organism": "Human", "refseq_name": "sesquipedalian-2", "refseq_ac": "NP_001002034", "gene_names_uniprotkb": "PHETA2; FAM109B", "gene_names_refseq": "FAM109B; IPIP27B; PHETA2; Ses2", "protein_names_uniprotkb": "Sesquipedalian-2; 27 kDa inositol polyphosphate phosphatase interacting protein B; IPIP27B; PH domain-containing endocytic trafficking adaptor 2; Ses2", "protein_names_refseq": "27 kDa inositol polyphosphate phosphatase interacting protein B; family with sequence similarity 109 member B; inositol polyphosphate phosphatase-interacting protein B; sesquipedalian-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:150368)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;18477386;20133602;21233288;28832583;29508533;29786170;32152089;32157095;32502341;32938616;32983136;33717175;33968037;35051231;35580925", "class_list": "", "function": "Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Two closely related endocytic proteins, Ses1 and Ses2, which interact with OCRL, were identified. The interaction is mediated by a short amino acid motif similar to that used by the rab-5 effector APPL1., [RefSeq, PubMed]; Two novel OCRL1-binding proteins, termed inositol polyphosphate phosphatase interacting protein of 27 kDa (IPIP27)A and B (also known as Ses1 and 2), that also bind the related 5-phosphatase Inpp5b, were identified., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "Q3SXQ3;Q8N6L9", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0055037 recycling endosome;GO:0030136 clathrin-coated vesicle;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0007032 endosome organization;GO:0001881 receptor recycling;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6ICB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5FWF4-1", "uniprot_id": "ZRAB3_HUMAN", "mass": 123248.0, "length": 1079, "protein_name": "DNA annealing helicase and endonuclease ZRANB3", "gene_name": "ZRANB3", "organism": "Human", "refseq_name": "DNA annealing helicase and endonuclease ZRANB3 isoform 2", "refseq_ac": "NP_001273497", "gene_names_uniprotkb": "ZRANB3", "gene_names_refseq": "4933425L19Rik; AH2; ZRANB3", "protein_names_uniprotkb": "DNA annealing helicase and endonuclease ZRANB3; AH2; Annealing helicase 2; Zinc finger Ran-binding domain-containing protein 3", "protein_names_refseq": "DNA annealing helicase and endonuclease ZRANB3 isoform 2; DNA annealing helicase and endonuclease ZRANB3; annealing helicase 2; zinc finger Ran-binding domain-containing protein 3; zinc finger, RAN-binding domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84083)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11230166;11237011;21078962;22704558;22705370;22759634;23186163;23481700;24714562;25412445;25576301;26884333;26992070;27445336;27846572;28218747;28228285;28621305;28855257;28904123;29242379;29437277;29493099;30150681;30315122;30524438;31217245;31324766;31844290;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32971328;33298915;33912179;33968037;34509645;34932366;35051231;35561310;35580925;37036693", "class_list": "", "function": "A role for ZRANB3 in the replication stress response and suggest new insights into how DNA repair is coordinated with DNA replication to maintain genome stability., [RefSeq, PubMed]; AH2 is recruited to stalled replication forks and that cells depleted of AH2 are hypersensitive to replication stresses., [RefSeq, PubMed]; DNA annealing helicase and endonuclease required to maintain genome stability at stalled or collapsed replication forks by facilitating fork restart and limiting inappropriate recombination that could occur during template switching events (PubMed:21078962, PubMed:22704558, PubMed:22705370, PubMed:22759634, PubMed:26884333). Recruited to the sites of stalled DNA replication by polyubiquitinated PCNA and acts as a structure-specific endonuclease that cleaves the replication fork D-loop intermediate, generating an accessible 3'-OH group in the template of the leading strand, which is amenable to extension by DNA polymerase (PubMed:22759634, PubMed:28621305). In addition to endonuclease activity, also catalyzes the fork regression via annealing helicase activity in order to prevent disintegration of the replication fork and the formation of double-strand breaks (PubMed:22704558, PubMed:22705370)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Here is described a substrate recognition domain within ZRANB3 that is needed for it to recognize forked DNA structures, hydrolyze ATP, catalyze fork remodeling, and act as a structure-specific endonuclease., [RefSeq, PubMed]; Nuclear RNR-alpha antagonizes cell proliferation by directly inhibiting ZRANB3, [RefSeq, PubMed]; RFWD3 promotes ZRANB3 recruitment to regulate the remodeling of stalled replication forks., [RefSeq, PubMed]; Structural and functional differences between AH2 and HARP suggest that different annealing helicases have distinct functions in the cell., [RefSeq, PubMed]; Time for remodeling: SNF2-family DNA translocases in replication fork metabolism and human disease. Review article, [RefSeq, PubMed]; ZRANB3 is an African-specific type 2 diabetes locus associated with beta-cell mass and insulin response. Publication Status: Online-Only, [RefSeq, PubMed]; ZRANB3 translocase, a SNF2 family member related to the SIOD disorder SMARCAL1 protein, is recruited by polyubiquitinated PCNA to promote fork restart following replication arrest., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 32, "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": "B3KYA1;B4E375;B5MDI3;D3DP76;E9PBP0;Q53SM1;Q6P2C4;Q8N1P4;Q9H0E8", "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:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016887 ATP hydrolysis activity;GO:0004520 DNA endonuclease activity;GO:0004386 helicase activity", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0009411 response to UV;GO:0031297 replication fork processing;GO:0071932 replication fork reversal", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q5FWF4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N8I0-1", "uniprot_id": "SAM12_HUMAN", "mass": 22907.0, "length": 201, "protein_name": "Sterile alpha motif domain-containing protein 12", "gene_name": "SAMD12", "organism": "Human", "refseq_name": "sterile alpha motif domain-containing protein 12 isoform b", "refseq_ac": "NP_997389", "gene_names_uniprotkb": "SAMD12", "gene_names_refseq": "BAFME1; BAFME; FAME1; FAME; FCMTE1; MEBA; SAMD12", "protein_names_uniprotkb": "Sterile alpha motif domain-containing protein 12; SAM domain-containing protein 12", "protein_names_refseq": "SAM domain-containing protein 12; benign adult familial myoclonic epilepsy 1; familial adult myoclonic epilepsy 1; familial cortical myoclonic tremor with epilepsy 1; myoclonic epilepsy, benign adult familial; sterile alpha motif domain-containing protein 12 isoform b; sterile alpha motif domain-containing protein 12", "tax_id": 9606, "disease": "familial adult myoclonic epilepsy (Disease Ontology:DOID:0111689); familial adult myoclonic epilepsy 1 (Disease Ontology:DOID:0111690)", "pathway": " (hsa:401474)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;24714562;26992070;27846572;29507423;29557506;29939203;30194086;30429286;31844290;32157095;32973343;33040085;33681653;33968037;34932366;35580925;37228062", "class_list": "", "function": "Abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy. Single-molecule, real-time sequencing of BAC clones and nanopore sequencing of genomic DNA identified two repeat configurations in SAMD12., [RefSeq, PubMed]; Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion. Publication Status: Online-Only, [RefSeq, PubMed]; DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A. Erratum:[J Hum Genet. 2021 Apr;66(4):449-450. doi: 10.1038/s10038-020-00867-w. PMID: 33184460], [RefSeq, PubMed]; Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1., [RefSeq, PubMed]; Liver fibrosis-derived exosomal miR-106a-5p facilitates the malignancy by targeting SAMD12 and CADM2 in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; We identified the pentanucleotide repeat expansion in SAMD12 as the causative mutation in Chinese FCMTE pedigrees., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q0P502", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8N8I0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUM9-1", "uniprot_id": "S20A1_HUMAN", "mass": 73700.0, "length": 679, "protein_name": "Sodium-dependent phosphate transporter 1", "gene_name": "SLC20A1", "organism": "Human", "refseq_name": "sodium-dependent phosphate transporter 1", "refseq_ac": "NP_005406", "gene_names_uniprotkb": "SLC20A1; GLVR1; PIT1", "gene_names_refseq": "GLVR1; Glvr-1; PIT1; PiT-1; SLC20A1", "protein_names_uniprotkb": "Sodium-dependent phosphate transporter 1; GLVR-1; Gibbon ape leukemia virus receptor 1; Leukemia virus receptor 1 homolog; Phosphate transporter 1; PiT-1; Solute carrier family 20 member 1", "protein_names_refseq": "gibbon ape leukemia virus receptor 1; leukemia virus receptor 1 homolog; sodium-dependent phosphate transporter 1; solute carrier family 20 (phosphate transporter), member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6574); (R-HSA-427652)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10516278;11009570;11237011;12097582;1309898;1531369;15641067;16790504;17494632;18669648;19413330;19726692;2078500;22645359;23186163;25502872;25576301;25892735;26024233;26992070;27600516;27920218;28218747;28228285;28834231;28904123;29242379;29314611;29437277;29557506;29632711;29671580;29769354;30315122;30410026;30484775;30626607;30779550;31217245;31222486;31530632;31611695;31844290;32350084;32357974;32488085;32502341;32938616;33141586;33592498;33912179;33968037;33981976;34171305;34357683;34433824;34561969;34725712;35051231;35154160;35251023;35318648;35349375;35447110;35494241;35580925;36215666;36241641;37269459;38941542;7929240;7966619;8041748;8288239;8302848;8411375;9889306", "class_list": "", "function": "(Microbial infection) May function as a retroviral receptor as it confers human cells susceptibility to infection to Gibbon Ape Leukemia Virus (GaLV), Simian sarcoma-associated virus (SSAV) and Feline leukemia virus subgroup B (FeLV-B) as well as 10A1 murine leukemia virus (10A1 MLV)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Cellular abundance of sodium phosphate cotransporter SLC20A1/PiT1 and phosphate uptake are controlled post-transcriptionally by ESCRT., [RefSeq, PubMed]; Long Noncoding RNA SLC20A1-1 Induces Nucleus Pulposus Apoptosis by Sponging miR-146a-5p., [RefSeq, PubMed]; Pit 1 transporter (SLC20A1) as a key factor in the NPP1-mediated inhibition of insulin signaling in human podocytes., [RefSeq, PubMed]; Sodium-phosphate symporter which preferentially transports the monovalent form of phosphate with a stoichiometry of two sodium ions per phosphate ion (PubMed:11009570, PubMed:16790504, PubMed:17494632, PubMed:19726692, PubMed:7929240, PubMed:8041748). May play a role in extracellular matrix and cartilage calcification as well as in vascular calcification (PubMed:11009570). Essential for cell proliferation but this function is independent of its phosphate transporter activity (PubMed:19726692)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Spitz Melanoma With SLC20A1::ALK Fusion: A Novel Fusion Previously Undescribed in Spitz Melanocytic Neoplasm., [RefSeq, PubMed]; The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 4, "reported_glycation": 0, "reported_snv": 13, "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": "Q08344;Q6DHX8;Q9UQ82", "ec_number_list": "", "go_molecular_function": "GO:0005316 high-affinity phosphate:sodium symporter activity;GO:0005315 phosphate transmembrane transporter activity;GO:0038023 signaling receptor activity;GO:0005436 sodium:phosphate symporter activity;GO:0015293 symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0008283 cell population proliferation;GO:0006796 phosphate-containing compound metabolic process;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0035435 phosphate ion transmembrane transport;GO:0006817 phosphate ion transport", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q8WUM9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRX5-1", "uniprot_id": "SERC1_HUMAN", "mass": 50495.0, "length": 453, "protein_name": "Serine incorporator 1", "gene_name": "SERINC1", "organism": "Human", "refseq_name": "serine incorporator 1", "refseq_ac": "NP_065806", "gene_names_uniprotkb": "SERINC1; KIAA1253; PRO732; TDE1L; TDE2", "gene_names_refseq": "SERINC1; TDE1L; TDE2; TMS-2; TMS2", "protein_names_uniprotkb": "Serine incorporator 1; Tumor differentially expressed protein 1-like; Tumor differentially expressed protein 2", "protein_names_refseq": "serine incorporator 1; tumor differentially expressed protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57515); (R-HSA-977347)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;10931946;11054547;12393813;12633500;12975309;15193426;15536068;16120614;16580895;17081983;18342636;18578522;18669648;18978678;19159218;19235232;19651622;20068231;20106978;20213681;22424782;23186163;23481700;24223779;25502872;25645385;25892735;26416733;26703715;26992070;27920218;28228285;28904123;29242379;29314611;29437277;29557506;29632711;29769354;29786170;30315122;30429286;31154438;31530632;31611695;31844290;31848261;32350084;32387766;32938616;32983136;33043033;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34078123;34185709;34357683;34433824;34509645;34725712;35051231;35251023;35580925;36010968;36241641;36284347;9188776", "class_list": "", "function": "Enhances the incorporation of serine into phosphatidylserine and sphingolipids., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KY69;E1P565;O75655;Q7Z2F5;Q8TAG1;Q9NTH8;Q9ULG7", "ec_number_list": "", "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0010698 acetyltransferase activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006665 sphingolipid metabolic process;GO:0008654 phospholipid biosynthetic process;GO:0044091 membrane biogenesis;GO:0006658 phosphatidylserine metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9NRX5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CW18-1", "uniprot_id": "PRS56_HUMAN", "mass": 64597.0, "length": 603, "protein_name": "Serine protease 56", "gene_name": "PRSS56", "organism": "Human", "refseq_name": "serine protease 56 isoform 2 precursor", "refseq_ac": "NP_001182058", "gene_names_uniprotkb": "PRSS56", "gene_names_refseq": "MCOP6; PRSS56", "protein_names_uniprotkb": "Serine protease 56; 3.4.21.-", "protein_names_refseq": "protease, serine 56; putative serine protease 56; serine protease 56 isoform 2 precursor", "tax_id": 9606, "disease": "isolated microphthalmia 6 (Disease Ontology:DOID:0060835); nanophthalmos (Disease Ontology:DOID:0080634); angle-closure glaucoma (Disease Ontology:DOID:13550); cholangiocarcinoma (Disease Ontology:DOID:4947); refractive error (Disease Ontology:DOID:9835)", "pathway": " (hsa:646960)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;15146197;21397065;21532570;21850159;23127749;23820083;30484775;31844290;32118495;32152063;32157095;32488085;33203948;34185709;34846842;35051231;35083852;35580925;36215666;37501562", "class_list": "", "function": "Corneal diameter decreases with decreasing axial length, suggesting posterior microphthalmos and nanophthalmos represent a spectrum of high hyperopia rather than distinct phenotypes. In the Saudi population PRSS56 mutations are the major cause., [RefSeq, PubMed]; Idenification of a founder mutation in the PRSS56 gene in Tunisian families with posterior microphthalmia and nanophthalmia., [RefSeq, PubMed]; Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure. Publication Status: Online-Only, [RefSeq, PubMed]; Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Publication Status: Online-Only, [RefSeq, PubMed]; Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos., [RefSeq, PubMed]; PRSS56 is a good candidate for the causal gene for nanophthalmos in a Mexican-Canadian family cohort., [RefSeq, PubMed]; Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients., [RefSeq, PubMed]; Serine protease required during eye development., [UniProtKB, PubMed]; This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]., [RefSeq]; Three different mutations in PRSS56, were detected in microphthalmos patients of the Faroese families., [RefSeq, PubMed]; Together, these data suggest that alterations of this serine protease may contribute to a spectrum of human ocular conditions including reduced ocular size and ACG., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006508 proteolysis;GO:0007596 blood coagulation;GO:0043010 camera-type eye development", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P0CW18-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P62241-1", "uniprot_id": "RS8_HUMAN", "mass": 24205.0, "length": 208, "protein_name": "Small ribosomal subunit protein eS8", "gene_name": "RPS8", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS8", "refseq_ac": "NP_001003", "gene_names_uniprotkb": "RPS8; SW-cl.83", "gene_names_refseq": "RPS8; S8; eS8", "protein_names_uniprotkb": "Small ribosomal subunit protein eS8; 40S ribosomal protein S8", "protein_names_refseq": "40S ribosomal protein S8; OK/SW-cl.83; small ribosomal subunit protein eS8", "tax_id": 9606, "disease": "", "pathway": " (hsa:6202); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 302, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17074750;17142313;17189298;17267404;17289661;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18369606;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18974281;19007248;19060897;19106111;19150429;19332556;19359157;19413330;19417104;19478851;19503078;19556969;19564402;19608919;19664994;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22009320;22072790;22174690;22190735;22195017;22544926;22645359;22855488;22898188;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23555621;23636399;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25255805;25418920;25432065;25505266;25525153;25645385;25892735;25969445;26024233;26154972;26237581;26728094;26992070;27452731;27526673;27600516;27726376;27846572;27920218;28065601;28132843;28218747;28228285;28685749;28832583;28904123;29242379;29331515;29393594;29413899;29437277;29493099;29557506;29786170;30293783;30315122;30410026;30524438;30779550;30804176;31217245;31611695;31844290;32099016;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32579943;32627011;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33091337;33123756;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34315815;34357683;34373319;34405274;34509645;34516797;34561969;34624207;34725712;35051231;35083852;35138101;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36610391;37217939;37938771;38665916;39395807;39990658;40914422;40930100;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8432552;8706699;8890909;8943342;9029102;9045610;9211906;9431993;9482744;9631292;9634482;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed]; Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome., [UniProtKB, UniProtKB]; Identification of 40S ribosomal protein S8 as a novel biomarker for alcoholassociated hepatocellular carcinoma using weighted gene coexpression network analysis., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 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": "P09058;Q6IRL7", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006412 translation;GO:0002181 cytoplasmic translation;GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 30.6, "record_id": "P62241-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BVG9-1", "uniprot_id": "PTSS2_HUMAN", "mass": 56253.0, "length": 487, "protein_name": "Phosphatidylserine synthase 2", "gene_name": "PTDSS2", "organism": "Human", "refseq_name": "phosphatidylserine synthase 2 isoform 2", "refseq_ac": "NP_110410", "gene_names_uniprotkb": "PTDSS2; PSS2", "gene_names_refseq": "PSS2; PTDSS2", "protein_names_uniprotkb": "Phosphatidylserine synthase 2; 2.7.8.29; PSS-2; PtdSer synthase 2; Serine-exchange enzyme II", "protein_names_refseq": "PSS-2; phosphatidylserine synthase 2 isoform 2; ptdSer synthase 2; serine-exchange enzyme II", "tax_id": 9606, "disease": "", "pathway": " (hsa:81490); (R-HSA-1483101)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11237011;17081983;18088087;18452278;18578522;18669648;18691976;18767875;19007248;19014349;19159218;19369195;19651622;20068231;21406692;23186163;23481700;24275569;25576301;25892735;28904123;29393594;29437277;29741879;30192525;30429286;30833945;31844290;31998317;32157095;32938616;33717175;33912179;33968037;34171305;34357683;34509645;35051231;36010968;37074911;37938771;9642289", "class_list": "", "function": "Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) is replaced by L-serine., [UniProtKB, UniProtKB]; Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349). Catalyzes the conversion of phosphatatidylethanolamine and does not act on phosphatidylcholine (PubMed:19014349). Can utilize both phosphatidylethanolamine (PE) plasmalogen and diacyl PE as substrate and the latter is six times better utilized, indicating the importance of an ester linkage at the sn-1 position (By similarity). Although it shows no sn-1 fatty acyl preference, exhibits significant preference towards docosahexaenoic acid (22:6n-3) compared with 18:1 or 20:4 at the sn-2 position (By similarity)., [UniProtKB, UniProtKB, PubMed]; Purification and characterization of human phosphatidylserine synthases 1 and 2., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [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": 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": 9, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "2.7.8.29", "go_molecular_function": "GO:0003882 CDP-diacylglycerol-serine O-phosphatidyltransferase activity;GO:0016740 transferase activity;GO:0106245 L-serine-phosphatidylethanolamine phosphatidyltransferase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006659 phosphatidylserine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9BVG9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P51665-1", "uniprot_id": "PSMD7_HUMAN", "mass": 37025.0, "length": 324, "protein_name": "26S proteasome non-ATPase regulatory subunit 7", "gene_name": "PSMD7", "organism": "Human", "refseq_name": "26S proteasome non-ATPase regulatory subunit 7", "refseq_ac": "NP_002802", "gene_names_uniprotkb": "PSMD7; MOV34L", "gene_names_refseq": "MOV34; P40; PSMD7; Rpn8; S12", "protein_names_uniprotkb": "26S proteasome non-ATPase regulatory subunit 7; 26S proteasome regulatory subunit RPN8; 26S proteasome regulatory subunit S12; Mov34 protein homolog; Proteasome subunit p40", "protein_names_refseq": "26S proteasome non-ATPase regulatory subunit 7; 26S proteasome regulatory subunit S12; 26S proteasome regulatory subunit rpn8; Moloney leukemia virus-34 proviral integration; Mov34 homolog; proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog); proteasome subunit p40", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); neurodegenerative disease (Disease Ontology:DOID:1289); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:5713); (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-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, 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"class_list": "", "function": "Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Deubiquitinating enzyme PSMD7 promotes bladder cancer development: Involvement of RAB1A stabilization., [RefSeq, PubMed]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core 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. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase 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 non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DWS9;Q6PKI2;Q96E97", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process;GO:0061136 regulation of proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 105.7, "record_id": "P51665-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8TF50-1", "uniprot_id": "ZN526_HUMAN", "mass": 73622.0, "length": 670, "protein_name": "Zinc finger protein 526", "gene_name": "ZNF526", "organism": "Human", "refseq_name": "zinc finger protein 526", "refseq_ac": "NP_001300962", "gene_names_uniprotkb": "ZNF526; KIAA1951", "gene_names_refseq": "DENNED; ZNF526", "protein_names_uniprotkb": "Zinc finger protein 526", "protein_names_refseq": "zinc finger protein 526", "tax_id": 9606, "disease": "Dentici-Novelli neurodevelopmental syndrome (MONDO:MONDO:0859251)", "pathway": " (hsa:116115)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;23481700;24715725;25558065;25576301;25645385;25892735;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30429286;30779550;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32387766;32502341;32938616;33141586;33298915;33397746;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34433824;34932366;35051231;35318648;35580925;38253038;40608935", "class_list": "", "function": "Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration., [RefSeq, PubMed]; Probable transcription factor., [UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "B3KV29;Q69YI2;Q96E24", "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", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q8TF50-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7RTS5-1", "uniprot_id": "OTOP3_HUMAN", "mass": 66296.0, "length": 596, "protein_name": "Proton channel OTOP3", "gene_name": "OTOP3", "organism": "Human", "refseq_name": "proton channel OTOP3 isoform 2", "refseq_ac": "NP_001258934", "gene_names_uniprotkb": "OTOP3", "gene_names_refseq": "OTOP3", "protein_names_uniprotkb": "Proton channel OTOP3; Otopetrin-3", "protein_names_refseq": "proton channel OTOP3 isoform 2; proton channel OTOP3", "tax_id": 9606, "disease": "", "pathway": " (hsa:347741)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12651873;18669648;19651622;29557506;30379171;33912179;34087483;35051231", "class_list": "", "function": "Proton-selective channel gated by extracellular protons., [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": 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": "A0A2U3TZI1", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0015252 proton channel activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q7RTS5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NQP4-1", "uniprot_id": "PFD4_HUMAN", "mass": 15314.0, "length": 134, "protein_name": "Prefoldin subunit 4", "gene_name": "PFDN4", "organism": "Human", "refseq_name": "prefoldin subunit 4", "refseq_ac": "NP_002614", "gene_names_uniprotkb": "PFDN4; PFD4", "gene_names_refseq": "C1; PFD4; PFDN4", "protein_names_uniprotkb": "Prefoldin subunit 4; Protein C-1", "protein_names_refseq": "prefoldin 4; prefoldin subunit 4; protein C-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5203); (R-HSA-389957)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "11237011;17936702;18669648;19413330;19651622;19664995;20068231;21406692;22544926;23301498;23481700;25576301;25645385;26375851;27600516;28228285;28510447;28855257;28904123;29393594;29493099;29557506;29786170;30192525;30429286;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32743796;32938616;33141586;33298915;33392160;33592498;33968037;34087483;34211107;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37938771;38612711;8744932;9630229", "class_list": "", "function": "Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; Novel long noncoding RNAs upregulation may have synergistic effects on the CYP24A1 and PFDN4 biomarker role in human colorectal cancer., [RefSeq, PubMed]; PFDN4 as a Prognostic Marker Was Associated with Chemotherapy Resistance through CREBP1/AURKA Pathway in Triple-Negative Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [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": "Q5TD11;Q92779", "ec_number_list": "", "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0016272 prefoldin complex", "go_biological_process": "GO:0006457 protein folding;GO:1905907 negative regulation of amyloid fibril formation", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9NQP4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y5E3-1", "uniprot_id": "PCDB6_HUMAN", "mass": 87322.0, "length": 794, "protein_name": "Protocadherin beta-6", "gene_name": "PCDHB6", "organism": "Human", "refseq_name": "protocadherin beta-6 isoform 1 precursor", "refseq_ac": "NP_061762", "gene_names_uniprotkb": "PCDHB6", "gene_names_refseq": "PCDH-BETA6; PCDHB6", "protein_names_uniprotkb": "Protocadherin beta-6; PCDH-beta-6", "protein_names_refseq": "protocadherin beta-6 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56130)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10380929;11237011;11322959;23481700;25645385;26768311;29789417", "class_list": "", "function": "Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB, UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 79, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R8R9", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9Y5E3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P54577-1", "uniprot_id": "SYYC_HUMAN", "mass": 59143.0, "length": 528, "protein_name": "Tyrosine--tRNA ligase, cytoplasmic", "gene_name": "YARS1", "organism": "Human", "refseq_name": "tyrosine--tRNA ligase, cytoplasmic", "refseq_ac": "NP_003671", "gene_names_uniprotkb": "YARS1; YARS", "gene_names_refseq": "CMTDIC; IMNEPD2; TYRRS; YARS1; YARS; YRS; YTS", "protein_names_uniprotkb": "Tyrosine--tRNA ligase, cytoplasmic; 6.1.1.1; TyrRS; Tyrosyl-tRNA synthetase", "protein_names_refseq": "tyrosine tRNA ligase 1, cytoplasmic; tyrosine--tRNA ligase, cytoplasmic; tyrosyl--tRNA ligase; tyrosyl-tRNA synthetase, cytoplasmic", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease dominant intermediate C (Disease Ontology:DOID:0110199); multisystem proteinopathy (Disease Ontology:DOID:070355); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); cancer (Disease Ontology:DOID:162); neuropathy (Disease Ontology:DOID:870); neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 (MONDO:MONDO:0030375)", "pathway": " (hsa:8565); (R-HSA-379716)", "pathway_count": 2, "publication_count": 121, "publication_id_list": "11237011;11347887;11714285;11829477;11858721;12427973;12665801;12690580;1373391;14660560;14671330;16055448;16429158;16906134;1761529;19413330;19608861;22291016;23186163;23301498;23481700;24366607;24627108;24714562;24715725;25418920;25533949;25576301;25645385;25802875;25892735;26154972;26375851;26728094;26758079;26768311;26992070;27600516;27633801;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29232904;29242379;29437277;29508533;29557506;29632046;29786170;30304524;30315122;30397120;30429286;30484775;30779550;31217245;31611695;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33214551;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33968037;34019948;34185709;34352414;34357683;34509645;34536092;34725712;35008409;35051231;35138101;35251023;35561310;35580925;36010968;36241641;36307205;36890170;37217939;37938771;38253038;38665916;40596516;40914422;4130389;6022858;656444;7118399;7654687;8052601;8078941;8188258;8428657;8449960;8552597;9162081;9278442;9421509;9431993", "class_list": "", "function": "Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]., [RefSeq]; Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease., [RefSeq, PubMed]; The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype. Review article Erratum:[J Mol Med (Berl). 2021 Dec;99(12):1769-1770. doi: 10.1007/s00109-021-02153-4. PMID: 34661688], [RefSeq, PubMed]; Tyrosine--tRNA ligase that catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr) (Probable) (PubMed:25533949). Also acts as a positive regulator of poly-ADP-ribosylation in the nucleus, independently of its tyrosine--tRNA ligase activity (PubMed:25533949). Activity is switched upon resveratrol-binding: resveratrol strongly inhibits the tyrosine--tRNA ligase activity and promotes relocalization to the nucleus, where YARS1 specifically stimulates the poly-ADP-ribosyltransferase activity of PARP1 (PubMed:25533949)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KWK4;D3DPQ4;O43276;Q53EN1", "ec_number_list": "6.1.1.1", "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0000049 tRNA binding;GO:0036094 small molecule binding;GO:0005153 interleukin-8 receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:0042594 response to starvation;GO:0006915 apoptotic process;GO:0006437 tyrosyl-tRNA aminoacylation;GO:0006418 tRNA aminoacylation for protein translation", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P54577-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O43653-1", "uniprot_id": "PSCA_HUMAN", "mass": 11959.0, "length": 114, "protein_name": "Prostate stem cell antigen", "gene_name": "PSCA", "organism": "Human", "refseq_name": "prostate stem cell antigen preproprotein", "refseq_ac": "NP_005663", "gene_names_uniprotkb": "PSCA; PRO232", "gene_names_refseq": "PRO232; PSCA; lncPSCA", "protein_names_uniprotkb": "Prostate stem cell antigen", "protein_names_refseq": "prostate stem cell antigen preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8000); (R-HSA-163125)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10713670;10973799;11034097;11072085;11237011;12402309;12975309;14634796;15176050;15340161;17853904;18488030;19554573;19582881;19648920;21681742;22513035;2443973;25680266;28510447;29557506;3422494;36708571;36853840;38407596;9465086", "class_list": "", "function": "Diagnostic Efficacy of PSMA and PSCA mRNAs Combined to PSA in Prostate Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variation in PSCA confers susceptibility to urinary bladder cancer. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2009 Oct;41(10):1156. Guarrera, Simonetta [added]; Polidoro, Silvia [added]], [RefSeq, PubMed]; Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Genetic variations in prostate stem cell antigen is associated with gastric cancer. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; May act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits nicotine-induced signaling probably implicating alpha-3:beta-2- or alpha-7-containing nAChRs., [UniProtKB, PubMed]; May be involved in the regulation of cell proliferation. Has a cell-proliferation inhibition activity in vitro., [UniProtKB, PubMed]; Prostate stem cell antigen polymorphisms are associated with stomach cancer., [RefSeq, PubMed]; Result shows PSCA contains the cleavage site of the ER signal peptidase and the resulting cleavage products fail to bind to HLA-A(*)0201 and are not recognized by T lymphocytes., [RefSeq, PubMed]; The PSCA rs2294008 (C/T) Polymorphism Increases the Risk of Gastric and Bladder Cancer: A Meta-Analysis., [RefSeq, PubMed]; This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]., [RefSeq]; VDR, CXCR1, CXCR2, PSCA Polymorphisms and Recurrent Urinary Tract Infections in Women: Genetic Association Study., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6UW92", "ec_number_list": "", "go_molecular_function": "GO:0030548 acetylcholine receptor regulator activity;GO:0033130 acetylcholine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0070062 extracellular exosome;GO:0098552 side of membrane", "go_biological_process": "GO:0095500 acetylcholine receptor signaling pathway;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0099601 regulation of neurotransmitter receptor activity", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O43653-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3D5-1", "uniprot_id": "RT18C_HUMAN", "mass": 15850.0, "length": 142, "protein_name": "Small ribosomal subunit protein bS18m", "gene_name": "MRPS18C", "organism": "Human", "refseq_name": "small ribosomal subunit protein bS18m isoform 3", "refseq_ac": "NP_001284698", "gene_names_uniprotkb": "MRPS18C; CGI-134", "gene_names_refseq": "CGI-134; MRP-S18-1; MRP-S18-c; MRPS18-1; MRPS18C; S18mt-c; bS18m; mrps18-c", "protein_names_uniprotkb": "Small ribosomal subunit protein bS18m; 28S ribosomal protein S18-1, mitochondrial; 28S ribosomal protein S18c, mitochondrial; MRP-S18-1; MRP-S18-c; Mrps18-c; S18mt-c; Small ribosomal subunit protein bS18c", "protein_names_refseq": "28S ribosomal protein S18-1, mitochondrial; 28S ribosomal protein S18c, mitochondrial; mitochondrial ribosomal protein S18-1; mitochondrial small ribosomal subunit protein bS18c; mitochondrial small ribosomal subunit protein bS18m-C; small ribosomal subunit protein bS18m isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51023); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 39, "publication_id_list": "11237011;11279123;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;25233460;25576301;25838379;26992070;27023846;27029019;28218747;28526948;28832583;28892042;29437277;29769354;30315122;30410026;30429286;31844290;32357974;33243891;33298915;33878294;34509645;34591434;35580925;36302763;36596788;37141370", "class_list": "", "function": "Expression pattern of MRPS18 family genes in gliomas., [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of MRPS18C gene (that encode for bS18m protein) suppressed the molecular defects produced by this mtDNA mutation, recovering the complex I activity and reducing the reactive oxygen species produced by this complex to normal levels., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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:0003735 structural constituent of ribosome;GO:0070181 small ribosomal subunit rRNA binding", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9Y3D5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0A0MS05-1", "uniprot_id": "TVB57_HUMAN", "mass": 12386.0, "length": 114, "protein_name": "Probable non-functional T cell receptor beta variable 5-7", "gene_name": "TRBV5-7", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV5-7", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional T cell receptor beta variable 5-7", "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": 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": "", "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": "A0A0A0MS05-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0C4DH35-1", "uniprot_id": "HV335_HUMAN", "mass": 12810.0, "length": 117, "protein_name": "Probable non-functional immunoglobulin heavy variable 3-35", "gene_name": "IGHV3-35", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGHV3-35", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin heavy variable 3-35", "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 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": 195, "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": 0.7, "record_id": "A0A0C4DH35-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A0J9YXG5-1", "uniprot_id": "TJB14_HUMAN", "mass": 1741.0, "length": 16, "protein_name": "T cell receptor beta joining 1-4", "gene_name": "TRBJ1-4", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBJ1-4", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta joining 1-4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "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": 0.6, "record_id": "A0A0J9YXG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A5A2-1", "uniprot_id": "TVB58_HUMAN", "mass": 12721.0, "length": 114, "protein_name": "T cell receptor beta variable 5-8", "gene_name": "TRBV5-8", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "TRBV5-8; TCRBV5S4A2T", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 5-8", "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": 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: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": "A0A5A2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A075B7F1-1", "uniprot_id": "A0A075B7F1_HUMAN", "mass": 12703.0, "length": 116, "protein_name": "Immunoglobulin heavy variable 3/OR16-8 (non-functional)", "gene_name": "IGHV3OR16-8", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGHV3OR16-8", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 3/OR16-8 (non-functional)", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11237011;29741879", "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": 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": 8712, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO: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": 0.5, "record_id": "A0A075B7F1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95319-1", "uniprot_id": "CELF2_HUMAN", "mass": 54285.0, "length": 508, "protein_name": "CUGBP Elav-like family member 2", "gene_name": "CELF2", "organism": "Human", "refseq_name": "CUGBP Elav-like family member 2 isoform 1", "refseq_ac": "NP_001020247", "gene_names_uniprotkb": "CELF2; BRUNOL3; CUGBP2; ETR3; NAPOR", "gene_names_refseq": "BRUNOL3; CELF-2; CELF2; CUG-BP2; CUGBP2; DEE97; ETR-3; ETR3; NAPOR", "protein_names_uniprotkb": "CUGBP Elav-like family member 2; Bruno-like protein 3; CELF-2; CUG triplet repeat RNA-binding protein 2; CUG-BP- and ETR-3-like factor 2; CUG-BP2; ELAV-type RNA-binding protein 3; ETR-3; Neuroblastoma apoptosis-related RNA-binding protein; RNA-binding protein BRUNOL-3; hNAPOR", "protein_names_refseq": "CUG triplet repeat RNA-binding protein 2; CUG-BP- and ETR-3-like factor 2; CUGBP Elav-like family member 2 isoform 1; ELAV-type RNA-binding protein 3; KDM2B/CELF2 fusion; RNA-binding protein BRUNOL-3; bruno-like protein 3; neuroblastoma apoptosis-related RNA-binding protein", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 97 (Disease Ontology:DOID:0070383)", "pathway": " (hsa:10659)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "10524244;10893231;11158314;11237011;11414768;11577082;11931771;12649496;14973222;15657417;15894795;16862542;18258790;18991276;23783831;24029068;24714562;24715725;25645385;25810538;25880248;25892735;26154972;26992070;27543614;27600516;27846572;27920218;28218747;28228285;28431233;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29485866;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32983136;33131106;33141586;33298915;33537174;33717175;33936100;33968037;34019948;34185709;34211107;34932366;35051231;35580925;36284347;36374812;36973749;37594127;37938771;38664873;8948631;9858671", "class_list": "", "function": "Data demonstrate that cells expressing CUGBP2 variant 1 undergo apoptosis during mitosis, suggesting mitotic catastrophe., [RefSeq, PubMed]; Hypoxia-induced lncRNA MRVI1-AS1 accelerates hepatocellular carcinoma progression by recruiting RNA-binding protein CELF2 to stabilize SKA1 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; MiR-208a-3p regulated by circUQCRC2 suppresses ischemia/reperfusion-induced acute kidney injury by inhibiting CELF2-mediated tubular epithelial cell apoptosis, inflammation and ferroptosis., [RefSeq, PubMed]; Natural Antisense Long Noncoding RNA HHIP-AS1 Suppresses Non-Small-Cell Lung Cancer Progression by Increasing HHIP Stability via Interaction with CELF2., [RefSeq, PubMed]; RNA-binding protein implicated in the regulation of several post-transcriptional events (PubMed:11577082, PubMed:11158314, PubMed:11931771, PubMed:12649496, PubMed:14973222, PubMed:15657417). Involved in pre-mRNA alternative splicing, mRNA translation and stability (PubMed:11158314, PubMed:11931771, PubMed:12649496, PubMed:14973222, PubMed:15657417, PubMed:15894795). Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing (PubMed:11158314, PubMed:11931771, PubMed:12649496). Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle (PubMed:11158314, PubMed:11931771). Activates TNNT2 exon 5 inclusion by antagonizing the repressive effect of PTB (PubMed:11931771). Acts both as an activator and as a repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs (PubMed:12649496). Promotes inclusion of exon 21 and exclusion of exon 5 of the NMDA receptor R1 pre-mRNA (By similarity). Involved in the apoB RNA editing activity (PubMed:11577082). Increases COX2 mRNA stability and inhibits COX2 mRNA translation in epithelial cells after radiation injury (By similarity). Binds to the muscle-specific splicing enhancer (MSE) intronic sites flanking the TNNT2 alternative exon 5 (PubMed:11158314). Binds preferentially to UG-rich sequences, in particular UG repeat and UGUU motifs (PubMed:11931771, PubMed:15657417). Binds to apoB mRNA, specifically to AU-rich sequences located immediately upstream of the edited cytidine (PubMed:11577082). Binds AU-rich sequences in the 3'-UTR of COX2 mRNA (By similarity). Binds to an intronic RNA element responsible for the silencing of exon 21 splicing (By similarity). Binds to (CUG)n repeats (PubMed:11158314). May be a specific regulator of miRNA biogenesis (PubMed:28431233). Binds to primary microRNA pri-MIR140 and, with CELF1, negatively regulates the processing to mature miRNA (PubMed:28431233)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of CELF2 in ferroptosis: Potential targets for cancer therapy (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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7ZAN9;Q7KYU4;Q8N499;Q92950;Q96NW9;Q96RQ5;Q96RQ6;Q9UL67", "ec_number_list": "", "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0106222 lncRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006396 RNA processing;GO:0008016 regulation of heart contraction;GO:0006376 mRNA splice site recognition;GO:0000381 regulation of alternative mRNA splicing, via spliceosome;GO:0016071 mRNA metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "O95319-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUD6-1", "uniprot_id": "CHPT1_HUMAN", "mass": 45097.0, "length": 406, "protein_name": "Cholinephosphotransferase 1", "gene_name": "CHPT1", "organism": "Human", "refseq_name": "cholinephosphotransferase 1", "refseq_ac": "NP_064629", "gene_names_uniprotkb": "CHPT1; CPT1; MSTP022", "gene_names_refseq": "CHPT1; CPT1; CPT", "protein_names_uniprotkb": "Cholinephosphotransferase 1; 2.7.8.2; AAPT1-like protein; Diacylglycerol cholinephosphotransferase 1; hCPT1", "protein_names_refseq": "AAPT1-like protein; cholinephosphotransferase 1 alpha; cholinephosphotransferase 1; diacylglycerol cholinephosphotransferase 1; hCPT1; phosphatidylcholine synthesizing enzyme", "tax_id": 9606, "disease": "retinal disease (Disease Ontology:DOID:5679)", "pathway": " (hsa:56994); (R-HSA-1483191)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10100195;10191259;10677542;10893425;11068039;11237011;11420179;11698453;12055623;12216837;12221122;12359261;14973250;15175005;15715662;15911624;15936720;16292752;16303743;17007874;17158099;17561512;18694939;19915674;20338778;21926997;23328280;23901139;24639073;24732803;24828044;25576301;25645385;25880248;26005868;26048993;26945070;26992070;28821867;28832583;28834231;28904123;29242379;29393594;29557506;29786170;30315122;3057511;30779550;31844290;31964590;32157095;32357974;32917955;33592498;33691108;33717175;33968037;33981976;34087483;34171305;34185709;34357683;35318648;35580925;36241641;9593753", "class_list": "", "function": "Aberrant activation of super enhancer and choline metabolism drive antiandrogen therapy resistance in prostate cancer., [RefSeq, PubMed]; Catalyzes the final step of de novo phosphatidylcholine (PC) synthesis, i.e. the transfer of choline phosphate from CDP-choline to the free hydroxyl of a diacylglycerol (DAG), producing a PC. It thereby plays a central role in the formation and maintenance of vesicular membranes., [UniProtKB, PubMed]; Data suggest that PAF-CPT level in blood can be altered by diet; up-regulation of PAF-CPT is associated with diets high in fat and cholesterol; down-regulation of PAF-CPT is associated with healthy diet patterns of the population studied in Greece., [RefSeq, PubMed]; Furthermore, the activity of CPT in forming PC is increased in the breast cancer cell lines cultured for 24 h., [RefSeq, PubMed]; Genetic Polymorphisms of LPCAT1, CHPT1 and PCYT1B and Risk of Neonatal Respiratory Distress Syndrome among a Chinese Han Population., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "B3KQM2;Q7Z7H0;Q7Z7H1;Q7Z7H2;Q8IWQ4;Q8IWQ5;Q8WYI4;Q9NRQ6;Q9NRQ7;Q9Y6M6", "ec_number_list": "2.7.8.2;2.7.8.1;2.7.8.22", "go_molecular_function": "GO:0046872 metal ion binding;GO:0019992 diacylglycerol binding;GO:0004142 diacylglycerol cholinephosphotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006657 CDP-choline pathway;GO:0006663 platelet activating factor biosynthetic process;GO:0006629 lipid metabolic process;GO:0006656 phosphatidylcholine biosynthetic process;GO:0001558 regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q8WUD6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y3D0-1", "uniprot_id": "CIA2B_HUMAN", "mass": 17663.0, "length": 163, "protein_name": "Cytosolic iron-sulfur assembly component 2B", "gene_name": "CIAO2B", "organism": "Human", "refseq_name": "cytosolic iron-sulfur assembly component 2B", "refseq_ac": "NP_057146", "gene_names_uniprotkb": "CIAO2B; CGI-128; CIAB; FAM96B; HSPC118; MIP18", "gene_names_refseq": "CGI-128; CIA2B; CIAO2B; FAM96B; MIP18", "protein_names_uniprotkb": "Cytosolic iron-sulfur assembly component 2B; MSS19-interacting protein of 18 kDa; Mitotic spindle-associated MMXD complex subunit MIP18; Protein FAM96B", "protein_names_refseq": "MSS19-interacting protein of 18 kDa; cytosolic iron-sulfur assembly component 2B; family with sequence similarity 96 member B; mitotic spindle-associated MMXD complex subunit MIP18", "tax_id": 9606, "disease": "", "pathway": " (hsa:51647); (R-HSA-2564830)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "11237011;18573874;18625724;20797633;20802492;21209280;21722264;22544926;22678361;22678362;23150669;23481700;23585563;23891004;24714562;24715725;25576301;25645385;25892735;26154972;26728094;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28510447;28832583;28834231;28860189;29242379;29320706;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29848660;30315122;30410026;30524438;30742009;30779550;30833945;31154438;31530632;31611695;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32632277;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36503010;37938771", "class_list": "", "function": "Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:22678361, PubMed:22678362, PubMed:23891004, PubMed:29848660). As a CIA complex component and in collaboration with CIAO1 and MMS19, binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins (PubMed:23891004, PubMed:29848660). As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD (PubMed:20797633). Together with MMS19, facilitates the transfer of Fe-S clusters to the motor protein KIF4A, which ensures proper localization of KIF4A to mitotic machinery components to promote the progression of mitosis (PubMed:29848660)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Fam96b recruits brain-type creatine kinase to fuel mitotic spindle formation., [RefSeq, PubMed]; Structural insights into Fe-S protein biogenesis by the CIA targeting complex., [RefSeq, PubMed]; These findings suggest that FAM96B acts as a regulator of E2-2 through the control of its protein expression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0097361 cytosolic [4Fe-4S] assembly targeting complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005819 spindle", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0007059 chromosome segregation;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9Y3D0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00291-1", "uniprot_id": "HIP1_HUMAN", "mass": 116221.0, "length": 1037, "protein_name": "Huntingtin-interacting protein 1", "gene_name": "HIP1", "organism": "Human", "refseq_name": "huntingtin-interacting protein 1 isoform 2", "refseq_ac": "NP_001230127", "gene_names_uniprotkb": "HIP1", "gene_names_refseq": "HIP-I; HIP1; ILWEQ; SHONbeta; SHONgamma; SHON", "protein_names_uniprotkb": "Huntingtin-interacting protein 1; HIP-1; HIP-I; Huntingtin-interacting protein I", "protein_names_refseq": "huntingtin-interacting protein 1 isoform 2; huntingtin-interacting protein I", "tax_id": 9606, "disease": "", "pathway": " (hsa:3092); (R-HSA-8856828); (R-HSA-9700645); (R-HSA-9725370)", "pathway_count": 4, "publication_count": 308, "publication_id_list": "10216106;10535736;10542231;10556217;10559856;10559861;10559924;10625686;10702393;10706082;10706887;10766823;10934142;11007801;11063258;11082044;11110708;11231140;11237011;11239472;11280786;11310834;11470803;11504915;11516654;11517213;11532990;11577110;11751994;11788820;11850821;11877457;11877461;11889126;11943732;11988758;12057195;12112524;12163454;12185581;12213833;12424201;12447393;12750159;12800156;12847086;12920229;12934099;12952949;14555962;14581451;14617351;14622578;14622579;14732715;14962911;15169778;15208656;15252009;15260957;15318165;15339664;15374880;15502812;15502813;15533940;15588951;15649145;15703209;15802264;15895073;15895077;15916959;16027218;16103228;16153455;16161041;16170336;16215232;16326391;16410077;16516836;16707488;16798879;16825495;16871283;16880396;16903783;16939498;17018281;17035995;17086210;17158794;17185414;17257618;17353907;17416736;17483340;17494869;17512409;17540576;17609109;17625570;17681954;17762867;17765681;17978091;18093523;18097461;18155047;18388313;18446792;18452557;1847920;18593892;18594010;18701132;18724359;18790740;18923523;18923524;18923525;18981233;19092055;19287005;19296720;19456272;19458185;19459784;19536138;19575674;19603039;19696796;19713939;19776351;19809571;20033059;20058876;20059951;20068231;20211604;20231386;20428113;20448150;20454865;20826345;20946875;21134980;2115402;21164297;21187331;21213368;21278753;21316588;21415216;21445324;21482805;21494621;21499258;21502504;21596819;21613550;21656749;21779028;21838707;21841790;21847362;21883765;21927000;21927001;21948233;21962517;22099461;22233676;22249260;22327622;22347464;22484487;22505844;22570254;22658521;22815487;22863004;23104988;23139213;23201355;23239810;23297414;23481700;23536704;23661334;23783831;23823722;23861397;23891661;23957430;24060861;24130457;24186068;24275569;24445538;24475247;24496003;24518094;24581490;24613930;24675041;24715725;24736082;24789820;24966051;25107275;25228534;25303366;25341920;25342631;25393796;25421750;25576301;25645385;25813404;25892735;25921060;26001147;26042225;26062823;26301689;26403691;26464158;26768311;26939704;26992070;27245569;27573755;27600516;27874193;28218747;28228285;28404650;28510447;28649982;28659337;28741662;28832583;28834231;28904123;29242379;29393594;29455642;29557506;29786170;29873274;30131584;30379171;30429286;30692217;31154438;31366041;31388026;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33368549;33392160;33537174;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34561969;35051231;35580925;36010968;36215666;36241641;36284347;37217939;38726004;6146630;7824924;7877694;8524399;8552632;8633037;9092476;9100026;9140394;9147654;9427626;9428629;9616134;9635431;9736607;9819383", "class_list": "", "function": "KIF1C and new Huntingtin-interacting protein 1 binding proteins regulate rheumatoid arthritis fibroblast-like synoviocytes' phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; MOBP and HIP1 in multiple system atrophy: New alpha-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis., [RefSeq, PubMed]; Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regulates presynaptic nerve terminal activity (By similarity). Enhances androgen receptor (AR)-mediated transcription (PubMed:16027218). May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway (PubMed:11007801). Binds 3-phosphoinositides (via ENTH domain) (PubMed:14732715). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis (PubMed:14732715). May play a functional role in the cell filament networks (PubMed:18790740). May be required for differentiation, proliferation, and/or survival of somatic and germline progenitors (PubMed:11007801, PubMed:12163454)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Results show that pro-apoptotic Hippi-Hip-1 heterodimers can recruit procaspase-8 into a complex of Hippi, Hip-1 and procaspase-8, and launch apoptosis through components of the 'extrinsic' cell-death pathway., [RefSeq, PubMed]; The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. 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": 5, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 24, "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": "B4E3I7;E7ES17;O00328;Q2TB58;Q8TDL4;V5LU97", "ec_number_list": "", "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0042803 protein homodimerization activity;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0046982 protein heterodimerization activity;GO:0051015 actin filament binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0099637 neurotransmitter receptor transport;GO:2000588 positive regulation of platelet-derived growth factor receptor-beta signaling pathway;GO:0006351 DNA-templated transcription;GO:0006897 endocytosis;GO:0007015 actin filament organization", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "O00291-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P06731-1", "uniprot_id": "CEAM5_HUMAN", "mass": 76796.0, "length": 702, "protein_name": "Cell adhesion molecule CEACAM5", "gene_name": "CEACAM5", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM5 isoform 1 preproprotein", "refseq_ac": "NP_001278413", "gene_names_uniprotkb": "CEACAM5; CEA", "gene_names_refseq": "CD66e; CEACAM5; CEA", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM5; CEA cell adhesion molecule 5; CEA; Carcinoembryonic antigen-related cell adhesion molecule 5; Carcinoembryonic antigen; Meconium antigen 100", "protein_names_refseq": "carcinoembryonic antigen related cell adhesion molecule 5; cell adhesion molecule CEACAM5 isoform 1 preproprotein; cell adhesion molecule CEACAM5; meconium antigen 100", "tax_id": 9606, "disease": "", "pathway": " (hsa:1048); (R-HSA-163125); (R-HSA-202733)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10.1007/s00018-021-03863-1;10436421;10540322;10606205;10764623;10854848;10864933;10910050;11072085;11207550;11237011;11256994;11290755;11325845;11560998;11564780;11779189;11812992;11953875;12070135;12124806;12174919;12208882;12469115;12782713;12806275;14529530;14615387;15000751;15102666;15102695;15528364;15681301;15721307;1591491;16062024;16258728;16297198;16585556;16691243;16737840;16740002;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18086185;19159218;19279206;21193412;21659548;23090970;2317824;2342461;23945545;24043627;24190977;2443973;24764293;2538457;25869226;26483485;27091407;2803308;28710313;29168585;29741879;29790264;3033671;30994045;3220478;32333071;32347972;32504736;32540459;3387431;34089345;34185709;3422494;36284347;3670312;37312199;37814871;37942534;3814146;38502695;38923643;41018975;468991;7509040;7521878;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9456434;9693095;9763524;9973217", "class_list": "", "function": "(Microbial infection) Receptor for E.coli Dr adhesins. Binding of E.coli Dr adhesins leads to dissociation of the homodimer., [UniProtKB, PubMed]; Cell surface glycoprotein that plays a role in cell adhesion, intracellular signaling and tumor progression (PubMed:10864933, PubMed:10910050, PubMed:2803308). Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6 (PubMed:2803308). Plays a role as an oncogene by promoting tumor progression; induces resistance to anoikis of colorectal carcinoma cells (PubMed:10910050)., [UniProtKB, PubMed, PubMed, PubMed]; Combination of CEACAM5, EpCAM and CK19 gene expressions in mediastinal lymph node micrometastasis is a prognostic factor for non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Detection and clinical significance of CEACAM5 methylation in colorectal cancer patients., [RefSeq, PubMed]; Hypoxia exosome derived CEACAM5 promotes tumor-associated macrophages M2 polarization to accelerate pancreatic neuroendocrine tumors metastasis via MMP9., [RefSeq, PubMed]; Phenotypic screen of sixty-eight colorectal cancer cell lines identifies CEACAM6 and CEACAM5 as markers of acid resistance., [RefSeq, PubMed]; This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]., [RefSeq]; [Heterogeneity analysis of pancreatic cancer and identification of molecular subtypes of tumor cells based on CEACAM5, LGALS1 and CENPF gene expression]., [RefSeq, PubMed]", "predicted_glycosites": 16, "predicted_n_glycosites": 15, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 13, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 108, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic; monitoring; diagnostic; ", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 29, "binding_glycan_count": 0, "secondary_ac_list": "H9KVA7", "ec_number_list": "", "go_molecular_function": "GO:0034235 GPI anchor binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0034109 homotypic cell-cell adhesion;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "P06731-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUM0-1", "uniprot_id": "NU133_HUMAN", "mass": 128979.0, "length": 1156, "protein_name": "Nuclear pore complex protein Nup133", "gene_name": "NUP133", "organism": "Human", "refseq_name": "nuclear pore complex protein Nup133", "refseq_ac": "NP_060700", "gene_names_uniprotkb": "NUP133", "gene_names_refseq": "GAMOS8; NPHS18; NUP133; hNUP133", "protein_names_uniprotkb": "Nuclear pore complex protein Nup133; 133 kDa nucleoporin; Nucleoporin Nup133", "protein_names_refseq": "133 kDa nucleoporin; nuclear pore complex protein Nup133; nucleoporin 133kDa; nucleoporin 133kD; nucleoporin Nup133", "tax_id": 9606, "disease": "Galloway-Mowat syndrome 1 (Disease Ontology:DOID:0060364); Galloway-Mowat syndrome 8 (Disease Ontology:DOID:0061291); nephrotic syndrome type 18 (Disease Ontology:DOID:0080393); Galloway-Mowat syndrome (Disease Ontology:DOID:0080694)", "pathway": " (hsa:55746); (R-HSA-1169408); (R-HSA-141430); (R-HSA-141444); (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-2467813); (R-HSA-2500257); (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-5663220); (R-HSA-6784531); (R-HSA-68877); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9648025); (R-HSA-9705671)", "pathway_count": 39, "publication_count": 577, "publication_id_list": 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"class_list": "", "function": "Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222)., [UniProtKB, PubMed, PubMed]; NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation., [RefSeq, PubMed]; The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 33, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RAZ8;Q5T8N0;Q9H9W2;Q9NV71;Q9NVC4", "ec_number_list": "", "go_molecular_function": "GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0031080 nuclear pore outer ring;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0072006 nephron development;GO:0006999 nuclear pore organization;GO:0006406 mRNA export from nucleus;GO:0006913 nucleocytoplasmic transport", "synthesized_glycan_count": 0, "hit_score": 58.5, "record_id": "Q8WUM0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WXG1-1", "uniprot_id": "RSAD2_HUMAN", "mass": 42170.0, "length": 361, "protein_name": "S-adenosylmethionine-dependent nucleotide dehydratase RSAD2", "gene_name": "RSAD2", "organism": "Human", "refseq_name": "S-adenosylmethionine-dependent nucleotide dehydratase RSAD2 isoform 1", "refseq_ac": "NP_542388", "gene_names_uniprotkb": "RSAD2; CIG5", "gene_names_refseq": "RSAD2; SAND; cig33; cig5; vig1", "protein_names_uniprotkb": "S-adenosylmethionine-dependent nucleotide dehydratase RSAD2; 4.2.-.-; Cytomegalovirus-induced gene 5 protein; Radical S-adenosyl methionine domain-containing protein 2; SAND; Viperin; Virus inhibitory protein, endoplasmic reticulum-associated, interferon-inducible", "protein_names_refseq": "S-adenosylmethionine-dependent nucleotide dehydratase RSAD2 isoform 1; S-adenosylmethionine-dependent nucleotide dehydratase RSAD2; cytomegalovirus-induced gene 5 protein; radical S-adenosyl methionine domain-containing protein 2; viperin; virus inhibitory protein, endoplasmic reticulum-associated, interferon-inducible", "tax_id": 9606, "disease": "respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273)", "pathway": " (hsa:91543); (R-HSA-909733)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10395669;10542297;10982844;11092454;11237011;11337497;11377645;11404376;11585831;11752458;12029096;12766484;12842042;14769151;15047845;15312780;15449939;15778442;15890971;16009940;16108059;16150475;16171819;16849320;16982913;16987978;17251292;1730654;17351669;17686841;17969444;18005719;18005724;18035202;18575461;19074433;20026307;20130243;20176015;20363976;20643137;21142818;21527675;21957124;2211721;22177558;22182524;22363738;23061660;23121362;24417533;25371710;25576301;28832583;29242379;29331515;29557506;29786170;29925952;30484775;30485383;30587778;30872404;30934824;31812350;31844290;31921110;32032529;32113509;32357974;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33117408;33189161;33193462;33396578;34108265;34185709;34372530;35051231;35580925;36284347;36519538;37170094;37179450;6162102;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9242679;9334213;9391139;9660177;9847332;9861020", "class_list": "", "function": "ISG (interferon-stmiulated genese) viperin has anti-Hepatitis c virus activity in vitro; we postulate that viperin, and other ISGs, acts to limit HCV replication., [RefSeq, PubMed]; Interferon-alpha regulates abnormally increased expression of RSAD2 in Th17 and Tfh cells in systemic lupus erythematosus patients., [RefSeq, PubMed]; Interferon-inducible antiviral protein which plays a major role in the cell antiviral state induced by type I and type II interferon (PubMed:31812350). Catalyzes the conversion of cytidine triphosphate (CTP) to 3'-deoxy-3',4'-didehydro-CTP (ddhCTP) via a SAM-dependent radical mechanism (PubMed:29925952, PubMed:30872404). In turn, ddhCTP acts as a chain terminator for the RNA-dependent RNA polymerases from multiple viruses and directly inhibits viral replication (PubMed:29925952). Therefore, inhibits a wide range of DNA and RNA viruses, including human cytomegalovirus (HCMV), hepatitis C virus (HCV), west Nile virus (WNV), dengue virus, sindbis virus, influenza A virus, sendai virus, vesicular stomatitis virus (VSV), zika virus, and human immunodeficiency virus (HIV-1) (PubMed:29925952, PubMed:30587778, PubMed:30934824, PubMed:31921110). Also promotes TLR7 and TLR9-dependent production of IFN-beta production in plasmacytoid dendritic cells (pDCs) by facilitating 'Lys-63'-linked ubiquitination of IRAK1 by TRAF6 (PubMed:30872404). Plays a role in CD4+ T-cells activation and differentiation. Facilitates T-cell receptor (TCR)-mediated GATA3 activation and optimal T-helper 2 (Th2) cytokine production by modulating NFKB1 and JUNB activities. Can inhibit secretion of soluble proteins., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PIK3CA mutation in endometriotic epithelial cells promotes viperin-dependent inflammatory response to insulin. Publication Status: Online-Only, [RefSeq, PubMed]; Results identify Viperin as a tightly regulated ISGF3 target gene, which is counter-regulated by PRDI-BF1., [RefSeq, PubMed]; The protein encoded by this gene is an interferon-inducible antiviral protein that belongs to the S-adenosyl-L-methionine (SAM) superfamily of enzymes. The protein plays a role in cellular antiviral response and innate immune signaling. Antiviral effects result from inhibition of viral RNA replication, interference in the secretory pathway, binding to viral proteins and dysregulation of cellular lipid metabolism. The protein has been found to inhibit both DNA and RNA viruses, including influenza virus, human immunodeficiency virus (HIV-1) and Zika virus. [provided by RefSeq, Sep 2020]., [RefSeq]; The rise of viperin: the emerging role of viperin in cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Viperin interacts with PEX19 to mediate peroxisomal augmentation of the innate antiviral response. Publication Status: Online-Only, [RefSeq, PubMed]; Viperin is expressed in atherosclerosis and induced in vascular cells by inflammatory stimuli and cytomegalovirus infection, [RefSeq, PubMed]; Viperin, an IFN-Stimulated Protein, Delays Rotavirus Release by Inhibiting Non-Structural Protein 4 (NSP4)-Induced Intrinsic Apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "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": "Q8WVI4", "ec_number_list": "2.7.7.84;2.7.10.2;2.7.11.1;3.4.25.1;3.6.5.-;3.5.4.37;3.1.26.-;4.2.-.-;3.1.13.1;2.7.-.-;2.7.4.-;3.1.5.-", "go_molecular_function": "GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0016829 lyase activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0043367 CD4-positive, alpha-beta T cell differentiation;GO:0035710 CD4-positive, alpha-beta T cell activation;GO:0050709 negative regulation of protein secretion;GO:0045087 innate immune response;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q8WXG1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BVN2-1", "uniprot_id": "RUSC1_HUMAN", "mass": 96444.0, "length": 902, "protein_name": "AP-4 complex accessory subunit RUSC1", "gene_name": "RUSC1", "organism": "Human", "refseq_name": "AP-4 complex accessory subunit RUSC1 isoform a", "refseq_ac": "NP_001098673", "gene_names_uniprotkb": "RUSC1; NESCA", "gene_names_refseq": "NESCA; RUSC1", "protein_names_uniprotkb": "AP-4 complex accessory subunit RUSC1; Nesca; New molecule containing SH3 at the carboxy-terminus; RUN and SH3 domain-containing protein 1", "protein_names_refseq": "AP-4 complex accessory subunit RUSC1 isoform a; AP-4 complex accessory subunit RUSC1; RUN and SH3 domain-containing protein 1; new molecule containing SH3 at the carboxy-terminus", "tax_id": 9606, "disease": "", "pathway": " (hsa:23623)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10.1038/emboj.2013.79;10760598;11237011;15024033;16303743;19365808;22404429;22821014;23584533;25576301;26758079;26992070;28218747;28514659;28904123;29242379;29437277;29557506;30192525;30262884;30379171;30569097;31217245;31848261;32157095;32387766;32938616;33043033;33298915;33633747;34048366;35051231;35494241;36010968;37938771", "class_list": "", "function": "Associates with the adapter-like complex 4 (AP-4) and may therefore play a role in vesicular trafficking of proteins at the trans-Golgi network (PubMed:30262884). Signaling adapter which plays a role in neuronal differentiation (PubMed:15024033). Involved in regulation of NGF-dependent neurite outgrowth (PubMed:15024033). May play a role in neuronal vesicular trafficking, specifically involving pre-synaptic membrane proteins (By similarity). Seems to be involved in signaling pathways that are regulated by the prolonged activation of MAPK (PubMed:15024033). Can regulate the polyubiquitination of IKBKG and thus may be involved in regulation of the NF-kappa-B pathway (PubMed:19365808)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Data show that NESCA and NEMO interact by their N-terminal region, that NESCA directly associates with TRAF6, which in turn catalyzes NESCA polyubiquitination, and that NESCA overexpression strongly inhibits TRAF6-mediated polyubiquitination of NEMO., [RefSeq, PubMed]; LncRNA RUSC1-AS1 promotes osteosarcoma progression through regulating the miR-340-5p and PI3K/AKT pathway., [RefSeq, PubMed]; Nesca functions as an adapter involved in neuronal vesicular transport, [RefSeq, PubMed]; RUN domain of NESCA can bind H-Ras, a downstream signaling molecule of TrkA, with high affinity. Moreover, NESCA RUN can directly interact with TrkA., [RefSeq, PubMed]; The present study demonstrated that lncRNA RUSC1ASN promoted cell viability and metastasis via Wnt/betacatenin signaling in human 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": 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": 1, "reported_glycation": 0, "reported_snv": 15, "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": "B3KWM9;Q5T9U9;Q5T9V0;Q5T9V1;Q5T9V2;Q9UPY4;Q9Y4T5", "ec_number_list": "", "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9BVN2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H5X1-1", "uniprot_id": "CIA2A_HUMAN", "mass": 18355.0, "length": 160, "protein_name": "Cytosolic iron-sulfur assembly component 2A", "gene_name": "CIAO2A", "organism": "Human", "refseq_name": "cytosolic iron-sulfur assembly component 2A isoform b", "refseq_ac": "NP_001014812", "gene_names_uniprotkb": "CIAO2A; CIA2A; FAM96A", "gene_names_refseq": "CIA2A; CIAO2A; FAM96A", "protein_names_uniprotkb": "Cytosolic iron-sulfur assembly component 2A; MIP18 family protein FAM96A", "protein_names_refseq": "MIP18 family protein FAM96A; cytosolic iron-sulfur assembly component 2A isoform b; family with sequence similarity 96 member A", "tax_id": 9606, "disease": "", "pathway": " (hsa:84191)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;20068231;22683786;23481700;23891004;24715725;25418920;25716227;26154972;26992070;28218747;28228285;29320706;29393594;29437277;30315122;30410026;30833945;31092671;31844290;32161166;32350084;32502341;32897882;33091337;33981976;35051231;35513087;36215666", "class_list": "", "function": "CIA2B-CIA1-MMS19 and CIA2A-CIA1 assist different branches of Fe/S protein assembly and intimately link this process to cellular iron regulation via IRP1 Fe/S cluster maturation and IRP2 stabilization. Erratum:[Cell Metab. 2018 Jan 9;27(1):263. doi: 10.1016/j.cmet.2017.12.009. PMID: 29320706], [RefSeq, PubMed]; Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:23891004). As a CIA complex component and in collaboration with CIAO1 specifically matures ACO1 and stabilizes IREB2, connecting cytosolic iron-sulfur protein maturation with cellular iron regulation (PubMed:23891004). May play a role in chromosome segregation through establishment of sister chromatid cohesion. May induce apoptosis in collaboration with APAF1 (PubMed:25716227)., [UniProtKB, PubMed, PubMed]; FAM96A expression was much reduced in tumorigenic ICC-SCs., [RefSeq, PubMed]; FAM96A suppresses epithelial-mesenchymal transition and tumor metastasis by inhibiting TGFbeta1 signals., [RefSeq, PubMed]; Putative metal-binding site of bacterial DUF59 proteins is not conserved in Fam96a, but Fam96a interacts tightly in vitro with Ciao1, the cytosolic iron-assembly protein, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NKS1;B2R5F8;B7Z8Z5", "ec_number_list": "", "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0097361 cytosolic [4Fe-4S] assembly targeting complex;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0007059 chromosome segregation;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9H5X1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96BT3-1", "uniprot_id": "CENPT_HUMAN", "mass": 60423.0, "length": 561, "protein_name": "Centromere protein T", "gene_name": "CENPT", "organism": "Human", "refseq_name": "centromere protein T", "refseq_ac": "NP_079358", "gene_names_uniprotkb": "CENPT; C16orf56; ICEN22", "gene_names_refseq": "C16orf56; CENP-T; CENPT; SSMGA", "protein_names_uniprotkb": "Centromere protein T; CENP-T; Interphase centromere complex protein 22", "protein_names_refseq": "centromere protein T; interphase centromere complex protein 22", "tax_id": 9606, "disease": "Seckel syndrome (Disease Ontology:DOID:0050569); short stature and microcephaly with genital anomalies (MONDO:MONDO:0032875)", "pathway": " (hsa:80152); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 129, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15369671;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16565220;16622419;16622420;16682347;16716197;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;17199038;17339379;1737036;17525332;18001770;18097444;18452278;18669648;18716626;18923426;19007248;19070575;19350017;19398759;19410544;19410545;19412974;19413330;19533040;19651622;19664995;19690332;19691289;19696148;19815554;19965387;20030946;20068231;20080577;20101212;20566683;20591975;21111234;21148482;21397845;21529714;21576392;21695110;21768289;21868368;21878504;21987589;22094460;22275430;22304917;22608513;22790947;22885700;23186163;23222643;23801653;24914801;25660545;25740311;25789526;27499292;27920218;28012276;28167779;28832583;29228025;29242379;29629870;30315122;30429286;30459232;30524438;31409757;31844290;31848261;32157095;32502341;32897882;32938616;32983136;33912179;34260926;35561310;35580925;36241641;9649308;9649503;9892021", "class_list": "", "function": "Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Part of a nucleosome-associated complex that binds specifically to histone H3-containing nucleosomes at the centromere, as opposed to nucleosomes containing CENPA. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. CENPT has a fundamental role in kinetochore assembly and function. It is one of the inner kinetochore proteins, with most further proteins binding downstream. Required for normal chromosome organization and normal progress through mitosis., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Levels of centromere aberrations increase upon depletion of CENP-A, CENP-C, and CENP-T/W, during replicative senescence, and in cancer cells., [RefSeq, PubMed]; Report a novel disease gene encoding the constitutive inner kinetochore member CENPT, which is involved in kinetochore targeting and assembly, resulting in severe growth failure in two siblings of a consanguineous family Publication Status: Online-Only, [RefSeq, PubMed]; The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]., [RefSeq]; These data define a novel molecular mechanism underlying the assembly of CENP-T onto the centromere by a temporally regulated HJURP-CENP-T interaction., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 23, "reported_mutagensis": 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": "Q96I29;Q96IC6;Q96NK9;Q9H901", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0051382 kinetochore assembly;GO:0000278 mitotic cell cycle;GO:0007059 chromosome segregation;GO:0051301 cell division;GO:0051276 chromosome organization", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q96BT3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A1B0GUV8-1", "uniprot_id": "A0A1B0GUV8_HUMAN", "mass": 20199.0, "length": 181, "protein_name": "Lipocalin/cytosolic fatty-acid binding domain-containing protein", "gene_name": "LOC102723971", "organism": "Human", "refseq_name": "beta-lactoglobulin precursor", "refseq_ac": "NP_001362586", "gene_names_uniprotkb": "LOC102723971", "gene_names_refseq": "LOC102723971", "protein_names_uniprotkb": "Lipocalin/cytosolic fatty-acid binding domain-containing protein", "protein_names_refseq": "beta-lactoglobulin precursor; beta-lactoglobulin-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723971)", "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:0036094 small molecule binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GUV8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZC1-1", "uniprot_id": "CELF4_HUMAN", "mass": 51966.0, "length": 486, "protein_name": "CUGBP Elav-like family member 4", "gene_name": "CELF4", "organism": "Human", "refseq_name": "CUGBP Elav-like family member 4 isoform 2", "refseq_ac": "NP_001020258", "gene_names_uniprotkb": "CELF4; BRUNOL4", "gene_names_refseq": "BRUNOL4; CELF-4; CELF4", "protein_names_uniprotkb": "CUGBP Elav-like family member 4; Bruno-like protein 4; CELF-4; CUG-BP- and ETR-3-like factor 4; RNA-binding protein BRUNOL-4", "protein_names_refseq": "CUG-BP- and ETR-3-like factor 4; CUGBP Elav-like family member 4 isoform 2; LYST-interacting protein LIP9; RNA-binding protein BRUNOL4; bruno-like 4, RNA binding protein; bruno-like protein 4", "tax_id": 9606, "disease": "myotonic dystrophy type 1 (Disease Ontology:DOID:11722); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:56853)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10893231;11158314;11237011;12438720;12649496;14973222;15009664;15894795;16862542;19651622;23481700;26811534;28218747;28407444;29393594;29437277;33912179;33930674;36010968;37758766", "class_list": "", "function": "An intronic variant in the CELF4 gene is associated with risk for colorectal cancer., [RefSeq, PubMed]; Authors report a modifying effect of a polymorphism of CELF4 on the dose-dependent association between anthracyclines and cardiomyopathy, which possibly occurs through a pathway that involves the expression of abnormally spliced TNNT2 variants., [RefSeq, PubMed]; Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex. Publication Status: Online-Only, [RefSeq, PubMed]; Determination of CELF4 protein domains required for RNA splicing. Publication Status: Online-Only, [RefSeq, PubMed]; Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Promotes exclusion of both the smooth muscle (SM) and non-muscle (NM) exons in actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The present study refines the molecular and neuropsychiatric phenotype associated with 18q12.2 deletion leading to CELF4 haploinsufficiency and provides evidence for a role for CELF4 in brain development and autism spectrum disorders., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q59EN7;Q86XB9;Q8N2M6;Q9BQ96;Q9NR84;Q9NR85", "ec_number_list": "", "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0036002 pre-mRNA binding;GO:0042835 BRE binding;GO:0003729 mRNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0048026 positive regulation of mRNA splicing, via spliceosome;GO:0009792 embryo development ending in birth or egg hatching;GO:0007281 germ cell development;GO:0006376 mRNA splice site recognition;GO:0000380 alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9BZC1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DUD1-1", "uniprot_id": "SPD8_HUMAN", "mass": 31441.0, "length": 265, "protein_name": "Speedy protein E8", "gene_name": "SPDYE8", "organism": "Human", "refseq_name": "speedy protein E8", "refseq_ac": "NP_001369454", "gene_names_uniprotkb": "SPDYE8", "gene_names_refseq": "SPDYE8P; SPDYE8", "protein_names_uniprotkb": "Speedy protein E8", "protein_names_refseq": "putative speedy protein E8; speedy protein E8", "tax_id": 9606, "disease": "", "pathway": " (hsa:728524)", "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": "P0DUD1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DSO2-1", "uniprot_id": "SCGR9_HUMAN", "mass": 8766.0, "length": 92, "protein_name": "Small cysteine and glycine repeat-containing protein 9", "gene_name": "SCYGR9", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "SCYGR9; KRTAP28p1", "gene_names_refseq": "", "protein_names_uniprotkb": "Small cysteine and glycine repeat-containing protein 9; Keratin-associated protein 28-1 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "18721477", "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:0005882 intermediate filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DSO2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DSO1-1", "uniprot_id": "F246C_HUMAN", "mass": 26153.0, "length": 240, "protein_name": "Protein FAM246C", "gene_name": "FAM246C", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "FAM246C", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein FAM246C", "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": "P0DSO1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0DTW3-1", "uniprot_id": "HV384_HUMAN", "mass": 13137.0, "length": 117, "protein_name": "Probable non-functional immunoglobulin heavy variable 1-38-4", "gene_name": "IGHV1-38-4", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IGHV1-38-4; IGHV1-C", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin heavy variable 1-38-4", "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)., [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": 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: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": "P0DTW3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A6Q8PHR7-1", "uniprot_id": "A0A6Q8PHR7_HUMAN", "mass": 4431.0, "length": 45, "protein_name": "Uncharacterized protein", "gene_name": "LOC128071545", "organism": "Human", "refseq_name": "umcharacterized LOC128071545", "refseq_ac": "NP_001401822", "gene_names_uniprotkb": "LOC128071545", "gene_names_refseq": "LOC128071545", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "umcharacterized LOC128071545", "tax_id": 9606, "disease": "", "pathway": " (hsa:128071545)", "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": "A0A6Q8PHR7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A0A804HJP8-1", "uniprot_id": "A0A804HJP8_HUMAN", "mass": 2681.0, "length": 25, "protein_name": "Uncharacterized protein", "gene_name": "LOC127898563", "organism": "Human", "refseq_name": "uncharacterized LOC127898563", "refseq_ac": "NP_001401633", "gene_names_uniprotkb": "LOC127898563", "gene_names_refseq": "LOC127898563", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "uncharacterized LOC127898563", "tax_id": 9606, "disease": "", "pathway": " (hsa:127898563)", "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": "A0A804HJP8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0CG37-1", "uniprot_id": "CFC1_HUMAN", "mass": 24612.0, "length": 223, "protein_name": "Cryptic protein", "gene_name": "CFC1", "organism": "Human", "refseq_name": "cryptic protein isoform 2 precursor", "refseq_ac": "NP_001257349", "gene_names_uniprotkb": "CFC1", "gene_names_refseq": "CFC1; CRYPTIC; DTGA2; HTX2", "protein_names_uniprotkb": "Cryptic protein; Cryptic family protein 1", "protein_names_refseq": "cripto, FRL-1, cryptic family 1; cryptic family protein 1; cryptic protein isoform 2 precursor; heterotaxy 2 (autosomal dominant)", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); visceral heterotaxy 2 (Disease Ontology:DOID:0051017); dextro-looped transposition of the great arteries (Disease Ontology:DOID:0060770); right atrial isomerism (Disease Ontology:DOID:0060856); double outlet right ventricle (Disease Ontology:DOID:6406)", "pathway": " (hsa:55997); (R-HSA-1181150); (R-HSA-1433617)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10067895;10473623;10822381;10934479;11024047;11062482;11237011;11294908;11389842;11485994;11779503;11779505;11799476;12063393;12592392;14978253;15062104;15150278;15350224;15485907;15531507;16260601;17272273;18930707;19114992;20694664;21356369;21383881;21532621;25423076;25603319;26476731;27793090;28620148;8878477;9288972;9311995;9670020;9702198", "class_list": "", "function": "CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle, [RefSeq, PubMed]; Data indicate that the duplication and deletion of CFC1 protein may play key roles in the occurrence of heterotaxy syndrome., [RefSeq, PubMed]; Enhances macrophage phagocytic activity and upregulates the production of anti- and pro-inflammatory cytokines via the NF-kappaB signaling pathway, [RefSeq, PubMed]; NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation., [UniProtKB, PubMed]; Results demonstrated that over expression of Snail suppresses Cryptic expression and confirmed that Snail directly binds to Cryptic gene promoter and regulates its expression. Publication Status: Online-Only, [RefSeq, PubMed]; The knockdown and overexpression of CFC1 were performed using a lentiviral system in NB cell lines. The overexpression of CFC1 increased sphere formation, cell growth, and colony formation., [RefSeq, PubMed]; This gene encodes a member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 10, "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": "B2RCY0;B9EJD3;Q53T05;Q9GZR3", "ec_number_list": "", "go_molecular_function": "GO:0038100 nodal binding;GO:0070697 activin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0098552 side of membrane", "go_biological_process": "GO:0007507 heart development;GO:0001568 blood vessel development;GO:0009952 anterior/posterior pattern specification;GO:0038092 nodal signaling pathway;GO:0007368 determination of left/right symmetry", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P0CG37-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SZB4-1", "uniprot_id": "CI050_HUMAN", "mass": 47639.0, "length": 431, "protein_name": "Uncharacterized protein C9orf50", "gene_name": "C9orf50", "organism": "Human", "refseq_name": "uncharacterized protein C9orf50", "refseq_ac": "NP_955382", "gene_names_uniprotkb": "C9orf50", "gene_names_refseq": "C9orf50", "protein_names_uniprotkb": "Uncharacterized protein C9orf50", "protein_names_refseq": "uncharacterized protein C9orf50", "tax_id": 9606, "disease": "", "pathway": " (hsa:375759)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;26811146;29557506;31429579;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": 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": "Q2M1I2;Q8NA65", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5SZB4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P0P8-1", "uniprot_id": "MRES1_HUMAN", "mass": 27941.0, "length": 240, "protein_name": "Mitochondrial transcription rescue factor 1", "gene_name": "MTRES1", "organism": "Human", "refseq_name": "mitochondrial transcription rescue factor 1 isoform a", "refseq_ac": "NP_001135940", "gene_names_uniprotkb": "MTRES1; C6orf203; HSPC230", "gene_names_refseq": "C6orf203; HSPC230; MTRES1; PRED31", "protein_names_uniprotkb": "Mitochondrial transcription rescue factor 1", "protein_names_refseq": "mitochondrial transcription rescue factor 1 isoform a; uncharacterized protein C6orf203", "tax_id": 9606, "disease": "", "pathway": " (hsa:51250); (R-HSA-9937383)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "11237011;18452278;18669648;19413330;19690332;20186120;20877624;24275569;27029019;28218747;28892042;29437277;30192525;30315122;31226201;31396629;31530632;31844290;32387766;33243891;33298915;33878294;33912179;33968037;34357683;34509645", "class_list": "", "function": "Although mitoribosome stability is not affected in C6orf203-depleted cells, mitoribosome profiling analysis revealed a global disruption of the association of mt-mRNAs with the mitoribosome, suggesting that C6orf203 may be required for the proper maturation and functioning of the mitoribosome., [RefSeq, PubMed]; Data show that mitochondrial transcription rescue factor 1 (MTRES1) is elevated in cells under stress and that this upregulation of MTRES1 prevents mitochondrial transcript loss under perturbed mitochondrial gene expression., [RefSeq, PubMed]; Mitochondrial RNA-binding protein involved in mitochondrial transcription regulation. Functions as a protective factor to maintain proper mitochondrial RNA level during stress. Acts at the transcription level and its protective function depends on its RNA binding ability (PubMed:31226201). Part of a mitoribosome-associated quality control pathway that prevents aberrant translation by responding to interruptions during elongation (PubMed:31396629, PubMed:33243891). As heterodimer with MTRF, ejects the unfinished nascent chain and peptidyl transfer RNA (tRNA), respectively, from stalled ribosomes. Recruitment of mitoribosome biogenesis factors to these quality control intermediates suggests additional roles for MTRES1 and MTRF during mitoribosome rescue (PubMed:33243891)., [UniProtKB, PubMed, 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": 4, "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": "B3KRG9", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0000049 tRNA binding;GO:0043023 ribosomal large subunit binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:1903108 regulation of mitochondrial transcription", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9P0P8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A2RU37-1", "uniprot_id": "CI170_HUMAN", "mass": 13369.0, "length": 121, "protein_name": "Uncharacterized protein encoded by LINC02872", "gene_name": "LINC02872", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC02872; C9orf170", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein encoded by LINC02872; Long intergenic non-protein coding RNA 2872", "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": "A2RU37-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A5D8W1-1", "uniprot_id": "CFA69_HUMAN", "mass": 105883.0, "length": 941, "protein_name": "Cilia- and flagella-associated protein 69", "gene_name": "CFAP69", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 69 isoform 1", "refseq_ac": "NP_001034795", "gene_names_uniprotkb": "CFAP69; C7orf63", "gene_names_refseq": "C7orf63; CFAP69; FAP69; SPGF24", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 69", "protein_names_refseq": "cilia- and flagella-associated protein 69 isoform 1", "tax_id": 9606, "disease": "spermatogenic failure 24 (Disease Ontology:DOID:0111929)", "pathway": " (hsa:79846)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;18288132;29393594;29557506;29606301;29789417;30415212;31844290;32938616;33091337;35051231;36010968;37392306;39894887", "class_list": "", "function": "A CpG island proximal to FLJ21062 is frequently methylated in diffuse large B-cell lymphoma (DLBCL)., [RefSeq, PubMed]; A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review. Review article, [RefSeq, PubMed]; CFAP69 is necessary for flagellum assembly/stability and that in both humans and mice, [RefSeq, PubMed]; Cilium- and flagellum-associated protein (PubMed:29606301). In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similarity). Required for sperm flagellum assembly and stability (PubMed:29606301)., [UniProtKB, PubMed, UniProtKB]; Homozygous loss-of-function mutations of CFAP69 are associated with abnormalities of the sperm flagella and severe asthenoteratospermia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A3KMP9;B4DYW6;B4DZP7;B9EIM7;Q6V705;Q8IY89;Q9H7C2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0097730 non-motile cilium;GO:0097225 sperm midpiece", "go_biological_process": "GO:0042048 olfactory behavior;GO:0030317 flagellated sperm motility;GO:0007608 sensory perception of smell;GO:0007288 sperm axoneme assembly;GO:1990834 response to odorant", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "A5D8W1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MTT3-1", "uniprot_id": "CEBOS_HUMAN", "mass": 9336.0, "length": 80, "protein_name": "Protein CEBPZOS", "gene_name": "CEBPZOS", "organism": "Human", "refseq_name": "protein CEBPZOS", "refseq_ac": "NP_001309302", "gene_names_uniprotkb": "CEBPZOS; CEBPZ-AS1", "gene_names_refseq": "CEBPZ-AS1; CEBPZOS", "protein_names_uniprotkb": "Protein CEBPZOS; CEBPZ antisense RNA 1; CEBPZ opposite strand", "protein_names_refseq": "CEBPZ antisense RNA 1; protein CEBPZOS", "tax_id": 9606, "disease": "", "pathway": " (hsa:100505876)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "25002142;25576301;26375851;26992070;27600516;27862975;27920218;28063628;28228285;28832583;28834231;29242379;29393594;29493099;29632046;30315122;30410026;30429286;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32387766;32488085;32938616;32983136;33592498;33633747;33691108;33912179;33968037;34171305;34509645;34561969;35051231;35251023;35318648;35580925;36010968;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MUR5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0031966 mitochondrial membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "A8MTT3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "C9J069-1", "uniprot_id": "AJM1_HUMAN", "mass": 106650.0, "length": 976, "protein_name": "Apical junction component 1 homolog", "gene_name": "AJM1", "organism": "Human", "refseq_name": "apical junction component 1 homolog", "refseq_ac": "NP_001073951", "gene_names_uniprotkb": "AJM1; C9orf172", "gene_names_refseq": "AJM1; C9orf172; ajm-1", "protein_names_uniprotkb": "Apical junction component 1 homolog", "protein_names_refseq": "apical junction component 1 homolog; uncharacterized protein C9orf172", "tax_id": 9606, "disease": "", "pathway": " (hsa:389813)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;23584533;24715725;25813380;29557506;31844290;32938616;34087483;35051231", "class_list": "", "function": "May be involved in the control of adherens junction integrity., [UniProtKB, UniProtKB]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005929 cilium;GO:0016324 apical plasma membrane;GO:0043296 apical junction complex", "go_biological_process": "GO:0045216 cell-cell junction organization", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "C9J069-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRB3-1", "uniprot_id": "CHSTC_HUMAN", "mass": 48414.0, "length": 414, "protein_name": "Carbohydrate sulfotransferase 12", "gene_name": "CHST12", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 12", "refseq_ac": "NP_001230723", "gene_names_uniprotkb": "CHST12; PRO1017", "gene_names_refseq": "C4S-2; C4ST-2; C4ST2; CHST12", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 12; 2.8.2.5; C4ST-2; C4ST2; Chondroitin 4-O-sulfotransferase 2; Chondroitin 4-sulfotransferase 2; Sulfotransferase Hlo", "protein_names_refseq": "carbohydrate (chondroitin 4) sulfotransferase 12; carbohydrate sulfotransferase 12; chondroitin 4-O-sulfotransferase 2; chondroitin 4-sulfotransferase 2; sulfotransferase Hlo", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:55501); (R-HSA-2022870)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10187838;10781596;10781601;10963998;11056388;11139592;11237011;11514575;11788602;12080076;12145278;12163485;12761225;12847091;12874280;12907687;12975309;17227754;18316376;20580388;21129727;21129728;23090970;23481700;23584533;24190977;25502872;26992070;26993826;27599773;28467828;28832583;29242379;29314611;29331515;29508533;29514872;29557506;29632046;29786170;30429286;31154438;31844290;31845005;31848261;32157095;32161166;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33392160;33592498;33968037;34078123;34288811;34509645;35051231;35132862;35251023;35494241;35580925;36581221;37938771;9883891", "class_list": "glycogene", "function": "Abnormal expression of chondroitin sulfate sulfotransferases in the articular cartilage of pediatric patients with Kashin-Beck disease., [RefSeq, PubMed]; Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. Activity toward partially desulfated dermatan sulfate is however lower. Does not form 4, 6-di-O-sulfated GalNAc when chondroitin sulfate C is used as an acceptor., [UniProtKB]; Human D4ST-1, C4ST-1, and S4ST-2 have differential roles in dermatan sulfate biosynthesis, [RefSeq, PubMed]; Knockdown of carbohydrate sulfotransferase 12 decreases the proliferation and mobility of glioblastoma cells via the WNT/beta-catenin pathway., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5' UTRs have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; These results have demonstrated that CHST11 and CHST13 negatively modulate metastasis and drug resistance of HCC cells probably via oncogenic MAPK signal pathway., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 650, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A4D1Z9;Q502W3;Q9NXY7", "ec_number_list": "2.8.2.5;2.8.2.-", "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0047756 chondroitin 4-sulfotransferase activity;GO:0050656 3'-phosphoadenosine 5'-phosphosulfate binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0016051 carbohydrate biosynthetic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0050651 dermatan sulfate proteoglycan biosynthetic process;GO:0030166 proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9NRB3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRG0-1", "uniprot_id": "CHRC1_HUMAN", "mass": 14711.0, "length": 131, "protein_name": "Chromatin accessibility complex protein 1", "gene_name": "CHRAC1", "organism": "Human", "refseq_name": "chromatin accessibility complex protein 1", "refseq_ac": "NP_059140", "gene_names_uniprotkb": "CHRAC1; CHRAC15", "gene_names_refseq": "CHARC15; CHARC1; CHRAC-15; CHRAC-1; CHRAC15; CHRAC1; YCL1", "protein_names_uniprotkb": "Chromatin accessibility complex protein 1; CHRAC-15; CHRAC-1; Chromatin accessibility complex 15 kDa protein; DNA polymerase epsilon subunit p15; HuCHRAC15", "protein_names_refseq": "DNA polymerase epsilon subunit p15; chromatin accessibility complex 15 kDa protein; chromatin accessibility complex protein 1; histone-fold protein CHRAC15", "tax_id": 9606, "disease": "", "pathway": " (hsa:54108)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10880450;11237011;12434153;14759371;17081983;18669648;19608861;19651622;20068231;21406692;22424782;23301498;23481700;24715725;25576301;26992070;28510447;28832583;29242379;29493099;29557506;29786170;30315122;30429286;30484775;30524438;31154438;31844290;32157095;32161166;32350084;32387766;32897882;32938616;33936100;33968037;34087483;34509645;34718437;35051231;35251023;36241641;38223760;39302247", "class_list": "", "function": "CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]., [RefSeq]; CHRAC1 promotes human lung cancer growth through regulating YAP transcriptional activity., [RefSeq, PubMed]; Chromatin accessibility complex subunit 1 enhances tumor growth by regulating the oncogenic transcription of YAP in breast and cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Forms a complex with DNA polymerase epsilon subunit POLE3 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome remodeling activity of ISWI/SNF2H and ACF1. Does not enhance nucleosome sliding activity of the ACF-5 ISWI chromatin remodeling complex (PubMed:14759371)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "", "ec_number_list": "", "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0008622 epsilon DNA polymerase complex;GO:0005634 nucleus;GO:0005721 pericentric heterochromatin;GO:0008623 CHRAC", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006275 regulation of DNA replication;GO:0006334 nucleosome assembly;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9NRG0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NCH0-1", "uniprot_id": "CHSTE_HUMAN", "mass": 42997.0, "length": 376, "protein_name": "Carbohydrate sulfotransferase 14", "gene_name": "CHST14", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 14", "refseq_ac": "NP_569735", "gene_names_uniprotkb": "CHST14; D4ST1; PRO4400", "gene_names_refseq": "ATCS; CHST14; D4ST1; EDSMC1; HNK1ST", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 14; 2.8.2.35; D4ST-1; Dermatan 4-sulfotransferase 1; hD4ST1", "protein_names_refseq": "carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14; carbohydrate (dermatan 4) sulfotransferase 14; carbohydrate sulfotransferase 14; dermatan 4 sulfotransferase 1", "tax_id": 9606, "disease": "Ehlers-Danlos syndrome musculocontractural type 1 (Disease Ontology:DOID:0080736); Ehlers-Danlos syndrome, musculocontractural type (MONDO:MONDO:0011142)", "pathway": " (hsa:113189); (R-HSA-2022923); (R-HSA-3595174)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "10.1038/emboj.2013.79;10187838;10766984;11237011;11370633;11414686;11470797;11666007;1184396;12508273;12512856;12556911;12847091;12874280;12975309;16158441;16505484;19188366;19661164;20004762;20503305;20533528;20842734;2202212;22424782;22544926;22581468;23481700;23584533;23704329;24715725;25348902;25645385;25892735;26154972;26373698;26992070;27397612;27600516;27846572;27862975;27920218;28228285;28467828;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;29976758;30195269;30315122;30429286;30524438;30573663;31154438;31217245;31492838;31530632;31611695;31844290;31848261;31998317;32130795;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34357683;34405274;34509645;34815299;35051231;35132862;35154160;35251023;35580925;35705054;36010968;36215666;36241641;36581221;37074911;37938771;38665916;40307207;40596516", "class_list": "glycogene", "function": "Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of beta1,4-linked GalNAc that is substituted with an alpha-linked iduronic acid (IdoUA) at the C-3 hydroxyl. Transfers sulfate more efficiently to GalNAc residues in -IdoUA-GalNAc-IdoUA- than in -GlcUA-GalNAc-GlcUA-sequences. Has preference for partially desulfated dermatan sulfate. Addition of sulfate to GalNAc may occur immediately after epimerization of GlcUA to IdoUA. Appears to have an important role in the formation of the cerebellar neural network during postnatal brain development., [UniProtKB, PubMed]; Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)., [RefSeq, PubMed]; D4ST-1 is a key enzyme and is indispensable in the formation of important functional domains in dermatan sulfate and cannot be compensated by other 4-O-sulfotransferases, [RefSeq, PubMed]; D4ST-1 is encoded by a single exon located on human chromosome 15q14; type II membrane protein of 376 amino acids with a 43-amino acid cytoplasmic domain and a 316-amino acid luminal domain containing two potential N-linked glycosylation sites, [RefSeq, PubMed]; DS-epi1, DS-epi2, and D4ST1 form homomers and are all part of a hetero-oligomeric complex where D4ST1 directly interacts with DS-epi1, but not with DS-epi2. The cooperation of DS-epi1 with D4ST1 may therefore explain the processive mode of the formation of iduronic acid blocks., [RefSeq, PubMed]; Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency., [RefSeq, PubMed]; Human D4ST-1, C4ST-1, and S4ST-2 have differential roles in dermatan sulfate biosynthesis, [RefSeq, PubMed]; Patients with musculocontractural Ehlers-Danlos syndrome-CHST14 are susceptible to develop scoliosis, thoracolumbar kyphosis., [RefSeq, PubMed]; This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 537, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6PJ31;Q6UXA0;Q96P94", "ec_number_list": "2.8.2.-;2.8.2.35", "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0001537 dermatan 4-sulfotransferase activity;GO:0042301 phosphate ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016051 carbohydrate biosynthetic process;GO:0050655 dermatan sulfate proteoglycan metabolic process;GO:0050651 dermatan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q8NCH0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9HA82-1", "uniprot_id": "CERS4_HUMAN", "mass": 46399.0, "length": 394, "protein_name": "Ceramide synthase 4", "gene_name": "CERS4", "organism": "Human", "refseq_name": "ceramide synthase 4", "refseq_ac": "NP_078828", "gene_names_uniprotkb": "CERS4; LASS4", "gene_names_refseq": "CERS4; LASS4; Trh1", "protein_names_uniprotkb": "Ceramide synthase 4; 2.3.1.-; 2.3.1.24; CerS4; LAG1 longevity assurance homolog 4; Sphingosine N-acyltransferase CERS4", "protein_names_refseq": "LAG1 homolog, ceramide synthase 4; LAG1 longevity assurance homolog 4; ceramide synthase 4; sphingosine N-acyltransferase CERS4", "tax_id": 9606, "disease": "", "pathway": " (hsa:79603); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10.1101/2023.09.13.557529;10722674;10751414;10802064;10947957;11237011;11937514;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17591919;17977534;17982138;18165232;18165233;18184806;18452278;19005213;19233134;19416851;19506037;20061445;20080650;20110355;20182505;21620961;21757428;22517924;22970244;23180825;23530041;23538298;23602659;23754960;24190977;24569996;24782409;25788259;25892735;26887952;26992070;28063628;28218747;28228285;28514659;28575652;28904123;29242379;29437277;29557506;29563527;29632046;29632068;29741879;29769354;29786170;30315122;30410026;31844290;31895563;31916624;32157095;33298915;33633747;33912179;35409383;36902339;36907437;37074911;37224812;37390971;37758931;37885013;37938771;38836837;4339164;4817756;9188692;9312549;9363775", "class_list": "glycogene", "function": "Ceramide synthase 4 overexpression exerts oncogenic properties in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Ceramide synthase CERS4 gene downregulation is associated with KRAS mutation in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward long and very-long chains (C18:0-C22:0) as acyl donor., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Co-expression of CerS2 with CerS4/CerS6 reversed the inhibitory effect of long chain ceramides on cell proliferation and the induction of apoptosis. we detected no effect on cell proliferation., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phospholipid metabolism-related genotypes of PLA2R1 and CERS4 contribute to nonobese MASLD. Publication Status: Online-Only, [RefSeq, PubMed]; The linkage and association of phospholipid transfer protein activity to LASS4 were studied., [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": 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": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 599, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D6W665", "ec_number_list": "2.3.1.24;2.3.1.299;2.3.1.-;2.3.1.291;2.3.1.298;2.3.1.297", "go_molecular_function": "GO:0003677 DNA binding;GO:0050291 sphingosine N-acyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0046513 ceramide biosynthetic process;GO:0030148 sphingolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9HA82-1", "record_type": "protein" }, { "uniprot_canonical_ac": "H3BNL8-1", "uniprot_id": "ARMD2_HUMAN", "mass": 26547.0, "length": 230, "protein_name": "Armadillo-like helical domain-containing protein 2", "gene_name": "ARMH2", "organism": "Human", "refseq_name": "armadillo-like helical domain-containing protein 2", "refseq_ac": "NP_001269421", "gene_names_uniprotkb": "ARMH2; C6orf229", "gene_names_refseq": "ARMH2; C6orf229", "protein_names_uniprotkb": "Armadillo-like helical domain-containing protein 2", "protein_names_refseq": "armadillo-like helical domain-containing protein 2; uncharacterized protein C6orf229", "tax_id": 9606, "disease": "", "pathway": " (hsa:101928603)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "28832583;31154438;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "H3BNL8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H2A9-1", "uniprot_id": "CHST8_HUMAN", "mass": 48834.0, "length": 424, "protein_name": "Carbohydrate sulfotransferase 8", "gene_name": "CHST8", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 8", "refseq_ac": "NP_001121367", "gene_names_uniprotkb": "CHST8", "gene_names_refseq": "CHST8; GALNAC4ST1; GalNAc4ST; PSS3", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 8; 2.8.2.-; GalNAc-4-O-sulfotransferase 1; GalNAc-4-ST1; GalNAc4ST-1; N-acetylgalactosamine-4-O-sulfotransferase 1", "protein_names_refseq": "GALNAC-4-ST1; GalNAc-4-O-sulfotransferase 1; N-acetylgalactosamine-4-O-sulfotransferase 1; carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8; carbohydrate sulfotransferase 8; galNAc4ST-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64377); (R-HSA-975578)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10.1038/emboj.2013.79;10094192;10343104;10464296;10814706;10988300;11001942;11237011;11445554;12417412;15632154;16079414;16362076;16754854;16959974;17175120;17466984;18431515;22289416;23584533;28204496;29242379;32350084;32983136;33968037;34087483;35051231;7635144;7650030;8524845;8808595;9478973;9949196", "class_list": "glycan-modifying enzyme;glycogene;glycosyltransferase", "function": "A missense mutation in the CHST8 gene, encoding GalNAc4-ST1, is the underlying cause of type A non-inflammatory peeling skin syndrome in this family., [RefSeq, PubMed]; Analysis of enzymatic properties and expression of GalNAc-4-sulfotransferase-1 and GalNAc-4-sulfotransferase-2, [RefSeq, PubMed]; Catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Transfers sulfate to the 4-position of GalNAc in the context of GalNAcbeta1->4GlcNAcbeta1->R attached to both N-linked and core 2 branched O-linked oligosaccharides. Required for biosynthesis of glycoprotein hormones lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures (PubMed:10988300, PubMed:11001942, PubMed:11445554, PubMed:28204496). Not active toward chondroitin and dermatan (PubMed:10988300, PubMed:11001942, PubMed:11445554)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; These findings, an allele frequency of 0.004357, and a 10-fold difference in prevalence of CHST8 (c.299 C > T, R77W) across different ethnic groups, suggest that this sequence represents a 'passenger' distributed polymorphism, a simple sequence variant form of the enzyme having normal activity, rather than a 'driver' disease-causing mutation that accounts for peeling skin syndrome, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 666, "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": "Q9H3N2", "ec_number_list": "2.8.2.-", "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0001537 dermatan 4-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0016051 carbohydrate biosynthetic process;GO:0007417 central nervous system development;GO:0042446 hormone biosynthetic process;GO:0006790 sulfur compound metabolic process;GO:0030166 proteoglycan biosynthetic process", "synthesized_glycan_count": 139, "hit_score": 3.9, "record_id": "Q9H2A9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75871-1", "uniprot_id": "CEAM4_HUMAN", "mass": 25909.0, "length": 244, "protein_name": "Cell adhesion molecule CEACAM4", "gene_name": "CEACAM4", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM4 isoform 1 precursor", "refseq_ac": "NP_001808", "gene_names_uniprotkb": "CEACAM4; CGM7", "gene_names_refseq": "CEACAM4; CGM7_HUMAN; CGM7; NCA", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM4; CEA cell adhesion molecule 4; Carcinoembryonic antigen CGM7; Carcinoembryonic antigen-related cell adhesion molecule 4; Non-specific cross-reacting antigen W236", "protein_names_refseq": "Nonspecific cross-reacting antigen (NCA); carcinoembryonic antigen CGM7; carcinoembryonic antigen gene family member 7; carcinoembryonic antigen related cell adhesion molecule 4; carcinoembryonic antigen-related cell adhesion molecule 4-sv1; carcinoembryonic antigen-related cell adhesion molecule 4-sv2; cell adhesion molecule CEACAM4 isoform 1 precursor; cell adhesion molecule CEACAM4; non-specific cross-reacting antigen W236; nonspecific cross-reacting antigen W236", "tax_id": 9606, "disease": "", "pathway": " (hsa:1089)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;2050678;25152032;25567962;35580925", "class_list": "", "function": "CEACAM4 has phagocytic function., [RefSeq, PubMed]; CEACAM4 is expressed in tumor-derived cell lines, and this expression is specific to an medullary thyroid carcinoma derived cell line., [RefSeq, PubMed]; Granulocyte orphan receptor that acts as an trigger efficient phagocytosis of attached particles., [UniProtKB, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 20, "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": "Q03715;Q7LDZ7", "ec_number_list": "", "go_molecular_function": "GO:1990782 protein tyrosine kinase binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0006909 phagocytosis;GO:0002682 regulation of immune system process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "O75871-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O76071-1", "uniprot_id": "CIAO1_HUMAN", "mass": 37840.0, "length": 339, "protein_name": "Probable cytosolic iron-sulfur protein assembly protein CIAO1", "gene_name": "CIAO1", "organism": "Human", "refseq_name": "probable cytosolic iron-sulfur protein assembly protein CIAO1", "refseq_ac": "NP_004795", "gene_names_uniprotkb": "CIAO1; CIA1; WDR39", "gene_names_refseq": "CIA1; CIAO1; MMDS10; WDR39", "protein_names_uniprotkb": "Probable cytosolic iron-sulfur protein assembly protein CIAO1; WD repeat-containing protein 39", "protein_names_refseq": "WD repeat domain 39; WD repeat-containing protein 39; WD40 protein Ciao1; cytosolic iron-sulfur protein assembly 1 homolog; probable cytosolic iron-sulfur protein assembly protein CIAO1", "tax_id": 9606, "disease": "multiple mitochondrial dysfunctions syndrome 10 (Disease Ontology:DOID:0070737)", "pathway": " (hsa:9391); (R-HSA-2564830)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10438340;17041588;17937914;18573874;18625724;20068231;20797633;20802492;21468892;21872626;22645359;22678361;22678362;22683786;23150669;23301498;23585563;23891004;24397554;25418920;25576301;25645385;26024233;26811146;26992070;27600516;28218747;28228285;28510447;28832583;28904123;29242379;29309586;29320706;29393594;29437277;29493099;29508533;29786170;30315122;30410026;30524438;30779550;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33633747;33912179;33968037;34019948;34087483;34171305;34229054;34509645;34569959;35051231;35580925;36010968;38411040;38950322;40914422;9556563", "class_list": "", "function": "A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer's Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-beta Protein Precursor., [RefSeq, PubMed]; CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders., [RefSeq, PubMed]; CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes. Publication Status: Online-Only, [RefSeq, PubMed]; Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:17937914, PubMed:23891004, PubMed:38950322). As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilizes IREB2 (PubMed:23891004). Seems to specifically modulate the transactivation activity of WT1 (PubMed:9556563). As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation (PubMed:20797633)., [UniProtKB, PubMed, HAMAP, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 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": "A0MNN9;Q53FM5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0097361 cytosolic [4Fe-4S] assembly targeting complex;GO:0005737 cytoplasm;GO:0071817 MMXD complex", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007059 chromosome segregation;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "O76071-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95873-1", "uniprot_id": "CF047_HUMAN", "mass": 31710.0, "length": 294, "protein_name": "Uncharacterized protein C6orf47", "gene_name": "C6orf47", "organism": "Human", "refseq_name": "uncharacterized protein C6orf47", "refseq_ac": "NP_067007", "gene_names_uniprotkb": "C6orf47; G4", "gene_names_refseq": "C6orf47; D6S53E; G4; NG34", "protein_names_uniprotkb": "Uncharacterized protein C6orf47; Protein G4", "protein_names_refseq": "protein G4; uncharacterized protein C6orf47", "tax_id": 9606, "disease": "", "pathway": " (hsa:57827)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "14656967;17081983;18835879;19143821;19851445;19913121;20628086;23186163;29437277;29557506;32350084;34357683;35051231", "class_list": "", "function": "Observational study of gene-disease association and gene-gene 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, 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": 8, "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": "B0UXA1;B0UZ50;Q5SSS6;Q95IG0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O95873-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P08603-1", "uniprot_id": "CFAH_HUMAN", "mass": 139096.0, "length": 1231, "protein_name": "Complement factor H", "gene_name": "CFH", "organism": "Human", "refseq_name": "complement factor H isoform a precursor", "refseq_ac": "NP_000177", "gene_names_uniprotkb": "CFH; HF1; HF2; HF", "gene_names_refseq": "AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; CFH; FHL1; FH; HF1; HF2; HF; HUS", "protein_names_uniprotkb": "Complement factor H; H factor 1", "protein_names_refseq": "H factor 1 (complement); H factor 2 (complement); adrenomedullin binding protein; age-related maculopathy susceptibility 1; beta-1-H-globulin; beta-1H; complement factor H isoform a precursor; factor H-like 1", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); basal laminar drusen (Disease Ontology:DOID:0060746); lupus nephritis (Disease Ontology:DOID:0080162); atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); COVID-19 (Disease Ontology:DOID:0080600); age related macular degeneration 4 (Disease Ontology:DOID:0110017); membranous glomerulonephritis (Disease Ontology:DOID:10976); sarcoidosis (Disease Ontology:DOID:11335); panuveitis (Disease Ontology:DOID:12030); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); posterior uveitis (Disease Ontology:DOID:12574); cardiovascular system disease (Disease Ontology:DOID:1287); obstructive jaundice (Disease Ontology:DOID:13603); anterior uveitis (Disease Ontology:DOID:1407); glaucoma (Disease Ontology:DOID:1686); squamous cell carcinoma (Disease Ontology:DOID:1749); nephrosis (Disease Ontology:DOID:2527); retinal drusen (Disease Ontology:DOID:2569); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); brain infarction (Disease Ontology:DOID:3454); macular degeneration (Disease Ontology:DOID:4448); retinal detachment (Disease Ontology:DOID:5327); proteinuria (Disease Ontology:DOID:576); amphetamine abuse (Disease Ontology:DOID:670); retinal degeneration (Disease Ontology:DOID:8466); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); hemolytic uremic syndrome, atypical, susceptibility to, 1 (MONDO:MONDO:0009335); complement factor H deficiency (MONDO:MONDO:0012350)", "pathway": " (hsa:3075); (R-HSA-977606)", "pathway_count": 2, "publication_count": 156, "publication_id_list": "10.1101/2023.09.13.557529;10531307;10577907;1067618;10762557;10803850;11158219;11170895;11170896;11237011;11694537;11851332;11939578;12020532;12055245;12960213;1386357;14583443;14760718;14978182;15183770;1533152;15761120;15761121;15761122;15870199;15895326;16079145;16192651;16335952;16601698;16612335;16999828;17132743;17182573;17360715;17505110;17591618;17893204;18005991;18252232;18252712;1826708;1829116;19112495;19139490;19159218;19225461;19503104;19505476;19835885;19838169;20008295;20378178;20513133;21285368;21317894;2139673;21788512;22019782;22028381;22197220;22389686;22802338;23017427;23090970;23133374;23204165;23332154;23487775;23658013;24190977;2420889;24279413;24530628;2465906;2466593;2481448;25136834;25265424;25330773;25402769;26700768;27160908;27397612;28258151;28671664;29190743;29242379;293688;293746;2937845;29391424;2946589;29557506;2956252;29632711;2963625;29671580;2968404;2971659;29741879;29789417;301546;30429286;30833945;31154438;31611695;31844290;31848261;32125861;32161166;32350084;33912179;34171305;34405274;34986357;35051231;35251023;35580925;35705054;36284347;37074911;38464530;3848661;38933264;39435487;4098172;6214588;6215918;6219696;6222381;6230668;6238120;6334079;6444659;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8331663;8345200;8495193;8786315;9038722;9312129;9551389;9558116;978134", "class_list": "", "function": "(Microbial infection) In the mosquito midgut, binds to the surface of parasite P.falciparum gametocytes and protects the parasite from alternative complement pathway-mediated elimination., [UniProtKB, PubMed]; Complement-Coagulation Cross-talk: Factor H-mediated regulation of the Complement Classical Pathway activation by fibrin clots. Publication Status: Online-Only, [RefSeq, PubMed]; Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self markers such as glycan structures prevents complement activation and amplification on cell surfaces (PubMed:21285368, PubMed:21317894, PubMed:25402769). Accelerates the decay of the complement alternative pathway (AP) C3 convertase C3bBb, thus preventing local formation of more C3b, the central player of the complement amplification loop (PubMed:19503104, PubMed:21317894, PubMed:26700768). As a cofactor of the serine protease factor I, CFH also regulates proteolytic degradation of already-deposited C3b (PubMed:18252712, PubMed:23332154, PubMed:28671664). In addition, mediates several cellular responses through interaction with specific receptors. For example, interacts with CR3/ITGAM receptor and thereby mediates the adhesion of human neutrophils to different pathogens. In turn, these pathogens are phagocytosed and destroyed (PubMed:20008295, PubMed:9558116)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Protective role of complement factor H against the development of preeclampsia. Publication Status: Online-Only, [RefSeq, PubMed]; SARS-CoV-2 hijacks host CD55, CD59 and factor H to impair antibody-dependent complement-mediated lysis., [RefSeq, PubMed]; This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 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": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "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": 83, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 140, "disease_count": 30, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A5PL14;P78435;Q14570;Q2TAZ5;Q38G77;Q5TFM3;Q8N708;Q9NU86", "ec_number_list": "", "go_molecular_function": "GO:0008201 heparin binding;GO:0042802 identical protein binding;GO:0043395 heparan sulfate proteoglycan binding;GO:0001851 complement component C3b binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0072562 blood microparticle;GO:0106139 symbiont cell surface", "go_biological_process": "GO:0006508 proteolysis;GO:0006954 inflammatory response;GO:0022010 central nervous system myelination;GO:0030449 regulation of complement activation;GO:0006956 complement activation", "synthesized_glycan_count": 0, "hit_score": 30.7, "record_id": "P08603-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C671-1", "uniprot_id": "BNIP5_HUMAN", "mass": 71930.0, "length": 652, "protein_name": "Protein BNIP5", "gene_name": "BNIP5", "organism": "Human", "refseq_name": "protein BNIP5", "refseq_ac": "NP_001010903", "gene_names_uniprotkb": "BNIP5; C6orf222", "gene_names_refseq": "BNIP5; C6orf222", "protein_names_uniprotkb": "Protein BNIP5", "protein_names_refseq": "protein BNIP5; uncharacterized protein C6orf222", "tax_id": 9606, "disease": "", "pathway": " (hsa:389384)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "24715725;25218447;29557506;30379171;32161166;32983136;33968037;34087483;35051231;35580925", "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": 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": 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": "B2RTY8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P0C671-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P0C7P0-1", "uniprot_id": "CISD3_HUMAN", "mass": 14216.0, "length": 127, "protein_name": "CDGSH iron-sulfur domain-containing protein 3, mitochondrial", "gene_name": "CISD3", "organism": "Human", "refseq_name": "CDGSH iron-sulfur domain-containing protein 3, mitochondrial precursor", "refseq_ac": "NP_001129970", "gene_names_uniprotkb": "CISD3", "gene_names_refseq": "CISD3; MiNT; Miner2", "protein_names_uniprotkb": "CDGSH iron-sulfur domain-containing protein 3, mitochondrial; MiNT; Miner2; MitoNEET-related protein 2; Mitochondrial inner NEET protein", "protein_names_refseq": "CDGSH iron-sulfur domain-containing protein 3, mitochondrial precursor; CDGSH iron-sulfur domain-containing protein 3, mitochondrial; mitoNEET related 2; mitoNEET-related protein 2; mitochondrial inner NEET protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:284106)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "17376863;19608861;24715725;25418920;26154972;26811146;26929215;26992070;28063628;28832583;28904123;29242379;29259115;29393594;29557506;29632046;30315122;30429286;30484775;30833945;31092671;31844290;32161166;32265295;32387766;32897882;33141586;33298915;33691108;34171305;34357683;34497268;34932366;35051231;36284347;38354784", "class_list": "", "function": "Biochemical and cellular characterization of the CISD3 protein: Molecular bases of cluster release and destabilizing effects of nitric oxide., [RefSeq, PubMed]; CISD3 inhibition drives cystine-deprivation induced ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008]., [RefSeq]; Can transfer its iron-sulfur clusters to the apoferrodoxins FDX1 and FDX2. Contributes to mitochondrial iron homeostasis and in maintaining normal levels of free iron and reactive oxygen species, and thereby contributes to normal mitochondrial function., [UniProtKB, PubMed]; Data indicate that mitochondrial inner NEET protein (MiNT)functions within the mitochondria to regulate levels of toxic iron and reactive oxygen species (ROS)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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:0051537 2 iron, 2 sulfur cluster binding", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P0C7P0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P15882-1", "uniprot_id": "CHIN_HUMAN", "mass": 53172.0, "length": 459, "protein_name": "N-chimaerin", "gene_name": "CHN1", "organism": "Human", "refseq_name": "N-chimaerin isoform 2", "refseq_ac": "NP_001020372", "gene_names_uniprotkb": "CHN1; ARHGAP2; CHN", "gene_names_refseq": "ARHGAP2; CHN1; CHN; DURS2; NC; RHOGAP2", "protein_names_uniprotkb": "N-chimaerin; A-chimaerin; Alpha-chimerin; N-chimerin; NC; Rho GTPase-activating protein 2", "protein_names_refseq": "A-chimaerin; N-chimaerin isoform 2; N-chimaerin; Rho GTPase-activating protein 2; a2-chimaerin; alpha-chimerin; chimaerin 1; chimerin (chimaerin) 1; n-chimerin", "tax_id": 9606, "disease": "Duane retraction syndrome 2 (Disease Ontology:DOID:0061028); Duane retraction syndrome (Disease Ontology:DOID:12557)", "pathway": " (hsa:1123); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 3, "publication_count": 286, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;1445199;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18653847;18786931;18835169;18838382;18929667;19269969;19494238;19605563;19673492;19713215;19934221;20400958;20460433;20679435;20810653;21148482;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;2268301;22734669;22970203;2299665;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;28028151;28114311;28196833;28825699;28860633;29089502;29358323;29382922;29393594;29557506;29786170;30061681;30429286;30853411;31154438;31844290;31848261;31871319;32203420;32387766;32938616;33298915;33392160;33667650;33968037;34152250;34238315;35051231;38509018;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7867622;8021274;8107774;8336731;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9829970;9843499;9846874;9988689", "class_list": "", "function": "Bioinformatics-based analysis of the association between the A1-chimaerin (CHN1) gene and gastric cancer., [RefSeq, PubMed]; CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease., [RefSeq, PubMed]; CHN1 promotes epithelial-mesenchymal transition via the Akt/GSK-3beta/Snail pathway in cervical carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance., [UniProtKB]; Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome., [RefSeq, PubMed]; This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K1M6;B3KNU6;B4DV19;Q53SD6;Q53SH5;Q96FB0", "ec_number_list": "", "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding;GO:0046875 ephrin receptor binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0048013 ephrin receptor signaling pathway;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0008045 motor neuron axon guidance;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 28.7, "record_id": "P15882-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P19835-1", "uniprot_id": "CEL_HUMAN", "mass": 79322.0, "length": 753, "protein_name": "Bile salt-activated lipase", "gene_name": "CEL", "organism": "Human", "refseq_name": "bile salt-activated lipase precursor", "refseq_ac": "NP_001798", "gene_names_uniprotkb": "CEL; BAL", "gene_names_refseq": "BAL; BSDL; BSSL; CELL; CEL; CEase; FAPP; FAP; MODY8", "protein_names_uniprotkb": "Bile salt-activated lipase; 3.1.1.13; 3.1.1.3; 3.1.1.6; BAL; BSSL; Bile salt-stimulated lipase; Bucelipase; Carboxyl ester lipase; Cholesterol esterase; Pancreatic lysophospholipase; Sterol esterase", "protein_names_refseq": "bile salt-activated lipase precursor; bile salt-activated lipase; bucelipase; carboxyl ester hydrolase; carboxyl ester lipase (bile salt-stimulated lipase); cholesterol esterase; fetoacinar pancreatic protein; lysophospholipase, pancreatic; sterol esterase", "tax_id": 9606, "disease": "maturity-onset diabetes of the young type 8 (Disease Ontology:DOID:0111105); lipomatosis (Disease Ontology:DOID:3153); pancreatitis (Disease Ontology:DOID:4989); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1056); (R-HSA-192456); (R-HSA-9925561)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "10024660;10220579;10358049;11040182;11045623;11834744;12166660;1379598;14693913;16369531;1639390;1698625;19760265;1988041;1991511;21740066;21784842;2265692;2318975;25160620;27509211;27650499;29557506;31844290;32125861;32983136;34850019;35051231;35486985;35580925;36284347;37566600;38483348;7350912;7350913;7578248;7654718;8404898;8404899;8471055;9530636", "class_list": "glycogene", "function": "Catalyzes the hydrolysis of a wide range of substrates including cholesteryl esters, phospholipids, lysophospholipids, di- and tri-acylglycerols, and fatty acid esters of hydroxy fatty acids (FAHFAs) (PubMed:10220579, PubMed:27509211, PubMed:27650499, PubMed:8471055). Preferentially hydrolyzes FAHFAs with the ester bond further away from the carboxylate. Unsaturated FAHFAs are hydrolyzed more quickly than saturated FAHFAs (By similarity). Has an essential role in the complete digestion of dietary lipids and their intestinal absorption, along with the absorption of fat-soluble vitamins (PubMed:10220579, PubMed:27509211, PubMed:27650499, PubMed:8471055)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas., [RefSeq, PubMed]; Effects of bile salt-stimulated lipase on blood cells and associations with disease activity in human inflammatory joint disorders. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]., [RefSeq]; Triacylglycerols containing branched palmitic acid ester of hydroxystearic acid (PAHSA) are present in the breast milk and hydrolyzed by carboxyl ester lipase., [RefSeq, PubMed]; Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases., [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 0, "predicted_o_glycosites": 9, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 10, "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": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 8, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1072, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 38, "disease_count": 5, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "Q16398;Q5T7U7;Q9UCH1;Q9UP41", "ec_number_list": "3.1.2.2;3.1.1.4;3.1.1.5;3.1.2.22;3.1.2.-;3.1.1.-;3.1.1.3;3.2.1.1;3.1.1.32;3.1.1.34;3.4.21.35;3.4.21.4;4.6.1.18;3.4.21.71;3.4.21.70;3.1.1.23;3.1.1.79;3.1.1.6;3.4.17.1;3.4.17.2;3.1.1.13;3.1.1.1;3.1.1.56;3.4.21.-;3.4.17.15;3.1.1.26;5.3.4.1;2.1.1.20;3.1.1.71;3.1.4.-;3.5.1.1;3.1.1.47;2.3.1.-;3.1.1.116;3.1.-.-;3.4.21.2;2.3.1.51", "go_molecular_function": "GO:0004771 sterol ester esterase activity;GO:0008201 heparin binding;GO:0016787 hydrolase activity;GO:0003824 catalytic activity;GO:0004806 triacylglycerol lipase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0046514 ceramide catabolic process;GO:0030299 intestinal cholesterol absorption;GO:0030157 pancreatic juice secretion", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "P19835-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P35790-1", "uniprot_id": "CHKA_HUMAN", "mass": 52249.0, "length": 457, "protein_name": "Choline kinase alpha", "gene_name": "CHKA", "organism": "Human", "refseq_name": "choline kinase alpha isoform a", "refseq_ac": "NP_001268", "gene_names_uniprotkb": "CHKA; CHK; CKI", "gene_names_refseq": "CHKA; CHK; CKI; CK; EK; NEDMIMS", "protein_names_uniprotkb": "Choline kinase alpha; 2.7.1.32; 2.7.1.82; CHETK-alpha; CK; EK; Ethanolamine kinase", "protein_names_refseq": "CHETK-alpha; choline kinase alpha isoform a; ethanolamine kinase", "tax_id": 9606, "disease": "colon adenoma (Disease Ontology:DOID:0050912); microcephaly (Disease Ontology:DOID:10907); epilepsy (Disease Ontology:DOID:1826); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures (MONDO:MONDO:0859282)", "pathway": " (hsa:1119); (R-HSA-1483191); (R-HSA-1483213)", "pathway_count": 3, "publication_count": 106, "publication_id_list": "10100195;10191259;10677542;10893425;11044454;11068039;11237011;11420179;11698453;12055623;12216837;12221122;14973250;15175005;15715662;15911624;1618328;17007874;17132865;17158099;17478478;17561512;18583706;18694939;19915674;20112406;20299452;20338778;21822308;21926997;22241472;23328280;23416529;23901139;24366607;24714562;24715725;24732803;24828044;25418920;25576301;25880248;25892735;26005868;26048993;26154972;26811146;26945070;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28821867;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29632046;30315122;30410026;30524438;3057511;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32897882;32938616;32958130;32983136;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34077757;34087483;34171305;34185709;34205960;34932366;35051231;35202461;35580925;36010968;36215666;36241641;36284347;37848481;9083101;9593753", "class_list": "", "function": "Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly., [RefSeq, PubMed]; Choline kinase alpha 2 acts as a protein kinase to promote lipolysis of lipid droplets., [RefSeq, PubMed]; Correlation between choline kinase alpha expression and [11]C-choline accumulation in breast cancer using positron emission tomography/computed tomography: a retrospective study. Publication Status: Online-Only, [RefSeq, PubMed]; DNA Methylation of Human Choline Kinase Alpha Promoter-Associated CpG Islands in MCF-7 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a key role in phospholipid biosynthesis by catalyzing the phosphorylation of free choline to phosphocholine, the first step in phosphatidylcholine biosynthesis (PubMed:17007874, PubMed:19915674, PubMed:23416529, PubMed:34077757). Also phosphorylates ethanolamine, thereby contributing to phosphatidylethanolamine biosynthesis (PubMed:17007874, PubMed:19915674). Has higher activity with choline (PubMed:17007874, PubMed:19915674). May contribute to tumor cell growth (PubMed:19915674)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; This isoform plays a key role in lipolysis of lipid droplets following glucose deprivation (PubMed:34077757). In response to glucose deprivation, phosphorylated by AMPK, promoting localization to lipid droplets (PubMed:34077757). Phosphorylation is followed by acetylation by KAT5, leading to dissociation of the homodimer into a monomer (PubMed:34077757). Monomeric CHKA isoform 1 is converted into a tyrosine-protein kinase, which phosphorylates lipid droplet structural proteins PLIN2 and PLIN3, leading to lipolysis of lipid droplets (PubMed:34077757)., [UniProtKB, PubMed]; [Knockdown of choline kinase alpha (CHKA) inhibits the proliferation, invasion and migration of human U87MG glioma cells]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "reported_glycation": 0, "reported_snv": 2, "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": "Q8NE29", "ec_number_list": "2.7.12.2;2.7.10.1;2.7.10.2;2.7.11.1;2.7.12.1;2.7.1.40;2.7.1.32;2.7.1.82;2.7.10.4;2.7.11.13;2.7.11.23", "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0004103 choline kinase activity;GO:0004305 ethanolamine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005829 cytosol", "go_biological_process": "GO:0006657 CDP-choline pathway;GO:0006629 lipid metabolic process;GO:0006869 lipid transport;GO:0006656 phosphatidylcholine biosynthetic process;GO:0042149 cellular response to glucose starvation", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "P35790-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P49454-1", "uniprot_id": "CENPF_HUMAN", "mass": 357527.0, "length": 3114, "protein_name": "Centromere protein F", "gene_name": "CENPF", "organism": "Human", "refseq_name": "centromere protein F", "refseq_ac": "NP_057427", "gene_names_uniprotkb": "CENPF", "gene_names_refseq": "CENF; CENPF; CILD31; PRO1779; STROMS; hcp-1", "protein_names_uniprotkb": "Centromere protein F; AH antigen; CENP-F; Kinetochore protein CENPF; Mitosin", "protein_names_refseq": "AH antigen; CENP-F kinetochore protein; cell-cycle-dependent 350K nuclear protein; centromere protein F, 350/400kDa; centromere protein F; kinetochore protein CENPF; mitosin", "tax_id": 9606, "disease": "Stromme syndrome (Disease Ontology:DOID:0110595); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:1063); (R-HSA-141430); (R-HSA-141444); (R-HSA-156711); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 240, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10411507;10600384;10678165;10852915;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;11897663;12006501;12194817;12429848;12577064;12679384;12732141;12738781;12805219;12852857;12974617;14730319;15006353;15037762;15070733;15085137;15339662;15507212;15654331;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16565220;16622419;16622420;16682347;16890222;16943183;16964243;17030981;17081983;17112726;17113138;17129783;17196341;17198702;17287340;1737036;17525332;17600710;17924679;18001770;18077418;18097444;18220336;18452278;18491316;18566446;18669648;18716626;18767875;18923426;19007248;19117535;19160488;19350017;19413330;19608861;19651622;19664994;19664995;19690332;19691289;19696148;19815554;19965387;20030946;20068230;20068231;20101212;20591975;21111234;21148482;21397845;21406692;21576392;21868368;21878504;21987589;22009320;22094460;22275430;22391450;22608513;22706990;22790947;22885700;23109430;23186163;23222643;23240008;23301498;23481700;23584533;23646949;23801653;24366607;24397554;24714562;24715725;24914801;25418920;25564561;25576301;25645385;25740311;25789526;25802875;25880248;25892735;26154972;26375851;26728094;26758079;26768311;26811146;26820108;26929215;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29351928;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31409757;31492838;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34260926;34509645;34561969;34932366;35051231;35289036;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36899270;37247093;37287300;37340703;37814871;37938771;38002928;38838015;39302247;39894887;40596516;7542657;7612011;7642639;7651420;8703070;9649308;9649503;9763420;9892021", "class_list": "", "function": "CENPF Upregulation is Associated with Immunosuppressive Status and Poor Clinical Outcomes in Lung Adenocarcinoma Validated by qRT-PCR., [RefSeq, PubMed]; Integrated pan-cancer analysis of centromere protein F and experimental verification of its role and clinical significance in cholangiocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Long Non-Coding RNA Small Nucleolar RNA Host Gene 4 Induced by Transcription Factor SP1 Promoted the Progression of Nasopharyngeal Carcinoma Through Modulating microRNA-510-5p/Centromere Protein F Axis., [RefSeq, PubMed]; Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Stromme Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the microtubule network though its association with STX4 and SNAP25. Acts as a potential inhibitor of pocket protein-mediated cellular processes during development by regulating the activity of RB proteins during cell division and proliferation. May play a regulatory or permissive role in the normal embryonic cardiomyocyte cell cycle and in promoting continued mitosis in transformed, abnormally dividing neonatal cardiomyocytes. Interaction with RB directs embryonic stem cells toward a cardiac lineage. Involved in the regulation of DNA synthesis and hence cell cycle progression, via its C-terminus. Has a potential role regulating skeletal myogenesis and in cell differentiation in embryogenesis. Involved in dendritic cell regulation of T-cell immunity against chlamydia., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]., [RefSeq]; [Heterogeneity analysis of pancreatic cancer and identification of molecular subtypes of tumor cells based on CEACAM5, LGALS1 and CENPF gene expression]., [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": 2, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 81, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 87, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q13171;Q13246;Q5VVM7", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0008017 microtubule binding;GO:0042803 protein homodimerization activity;GO:0070840 dynein complex binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0051310 metaphase chromosome alignment;GO:0051382 kinetochore assembly;GO:0071897 DNA biosynthetic process;GO:0000278 mitotic cell cycle;GO:0007059 chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 25.5, "record_id": "P49454-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P59074-1", "uniprot_id": "CHM4P_HUMAN", "mass": 19069.0, "length": 171, "protein_name": "Putative charged multivesicular body protein 4B-like protein CHMP4BP1", "gene_name": "CHMP4BP1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "CHMP4BP1; CGI-301", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative charged multivesicular body protein 4B-like protein CHMP4BP1; Charged multivesicular body protein 4B pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 10, "publication_id_list": "25576301;26154972;30315122;31092671;31154438;31217245;31844290;31998317;32488085;32502341", "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": "Q8NFA9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0031468 nuclear membrane reassembly;GO:0039702 viral budding via host ESCRT complex;GO:0097352 autophagosome maturation;GO:0006900 vesicle budding from membrane", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "P59074-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q14002-1", "uniprot_id": "CEAM7_HUMAN", "mass": 29345.0, "length": 265, "protein_name": "Cell adhesion molecule CEACAM7", "gene_name": "CEACAM7", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM7 preproprotein", "refseq_ac": "NP_001278414", "gene_names_uniprotkb": "CEACAM7; CGM2", "gene_names_refseq": "CEACAM7; CGM2", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM7; CEA cell adhesion molecule 7; Carcinoembryonic antigen CGM2; Carcinoembryonic antigen-related cell adhesion molecule 7", "protein_names_refseq": "carcinoembryonic antigen CGM2; carcinoembryonic antigen gene family member 2; carcinoembryonic antigen related cell adhesion molecule 7; cell adhesion molecule CEACAM7 preproprotein; cell adhesion molecule CEACAM7", "tax_id": 9606, "disease": "", "pathway": " (hsa:1087); (R-HSA-163125)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "10436421;11072085;11237011;1427854;15340161;2443973;2537643;26323304;28005267;28832583;29789417;3422494;34657826;7806520;9135022", "class_list": "", "function": "CEACAM7 expression is significantly upregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; CEACAM7 polymorphisms predict genetic predisposition to mortality in post-surgical septic shock patients., [RefSeq, PubMed]; Crystal structure of the N-terminal dimerization domain of CEACAM has been determined at 1.47 A resolution, [RefSeq, PubMed]; This gene encodes a cell surface glycoprotein and member of the carcinoembryonic antigen (CEA) family of proteins. Expression of this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K848;O15148;O15149;Q0VAC1;Q13983;Q9UPJ2", "ec_number_list": "", "go_molecular_function": "GO:1990782 protein tyrosine kinase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016324 apical plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0002682 regulation of immune system process", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q14002-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15782-4", "uniprot_id": "CH3L2_HUMAN", "mass": 43501.0, "length": 390, "protein_name": "Chitinase-3-like protein 2", "gene_name": "CHI3L2", "organism": "Human", "refseq_name": "chitinase-3-like protein 2 isoform b", "refseq_ac": "NP_001020368", "gene_names_uniprotkb": "CHI3L2", "gene_names_refseq": "CHI3L2; CHIL2; YKL-39; YKL39", "protein_names_uniprotkb": "Chitinase-3-like protein 2; Chondrocyte protein 39; YKL-39", "protein_names_refseq": "chitinase-3-like protein 2 isoform b; chitinase-3-like protein 2; chondrocyte protein 39", "tax_id": 9606, "disease": "", "pathway": " (hsa:1117)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "12435396;14702039;15489334;16341674;16502470;16710414;21081667;22211103;22424782;22742450;24714562;25418920;25477513;25802875;26154972;26811146;27424145;27726376;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29728799;29786170;30315122;30410026;31154438;31217245;31530632;31810965;31844290;32038607;32350084;32357974;32502341;32938616;32983136;33298915;33633747;33717175;33828170;33912179;34357683;34395626;34561969;34818986;34932366;35154160;35580925;35759479;35913110;37147894;8702629;9029102", "class_list": "glycogene;glycosylhydrolase", "function": "An integrative epi-transcriptomic approach identifies the human cartilage chitinase 3-like protein 2 (CHI3L2) as a potential mediator of B12 deficiency in adipocytes., [RefSeq, PubMed]; Chitinase 3-Like 2., [RefSeq, PubMed]; Comprehensive Analysis of CD163 as a Prognostic Biomarker and Associated with Immune Infiltration in Glioblastoma Multiforme. Publication Status: Online-Only, [RefSeq, PubMed]; ERK1/2 phosphorylation by CHI3L2 inhibits cell mitogenesis and proliferation., [RefSeq, PubMed]; Human chitinase 3-like 2 gene (YKL-39) but not chitinase 3-like 1 gene (YKL-40) is upregulated in osteoarthritic cartilage, [RefSeq, PubMed]; IL-2, IL-6 and chitinase 3-like 2 might predict early relapse activity in multiple sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Lectin that binds chitooligosaccharides and other glycans with high affinity, but not heparin. Has no chitinase activity., [UniProtKB, PubMed]; M2 macrophage marker CHI3L2 could serve as a potential prognostic and immunological biomarker in glioma by integrated single-cell and bulk RNA-Seq analysis., [RefSeq, PubMed]; The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is secreted and is involved in cartilage biogenesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 531, "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": "A6NNY3;B4DPR7;Q15749;Q15783;Q5VUV7;Q96F97", "ec_number_list": "", "go_molecular_function": "GO:0016787 hydrolase activity;GO:0030246 carbohydrate binding;GO:0008061 chitin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006032 chitin catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q15782-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3KPI0-1", "uniprot_id": "CEA21_HUMAN", "mass": 32354.0, "length": 293, "protein_name": "Cell adhesion molecule CEACAM21", "gene_name": "CEACAM21", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM21 isoform 1 precursor", "refseq_ac": "NP_001091976", "gene_names_uniprotkb": "CEACAM21; PRO10075", "gene_names_refseq": "CEACAM21; R29124_1", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM21; CEA cell adhesion molecule 21; Carcinoembryonic antigen-related cell adhesion molecule 21", "protein_names_refseq": "carcinoembryonic antigen related cell adhesion molecule 21; cell adhesion molecule CEACAM21 isoform 1 precursor; cell adhesion molecule CEACAM21", "tax_id": 9606, "disease": "", "pathway": " (hsa:90273)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;12975309;21682944;31611695", "class_list": "", "function": "This study revealed CEACAM21 as novel schizophrenia candidate genes in the Jewish population Erratum:[Int J Neuropsychopharmacol. 2012 May;15(4):541], [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7WNQ6;O75296;Q6UY47;Q96ER7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q3KPI0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q4VX62-1", "uniprot_id": "CF099_HUMAN", "mass": 17918.0, "length": 156, "protein_name": "Putative uncharacterized protein LINC02901", "gene_name": "LINC02901", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC02901; C6orf99", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LINC02901; Long intergenic non-protein coding RNA 2901", "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": "Q4VX61", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q4VX62-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5JU67-1", "uniprot_id": "CF157_HUMAN", "mass": 60533.0, "length": 520, "protein_name": "Cilia- and flagella-associated protein 157", "gene_name": "CFAP157", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 157", "refseq_ac": "NP_001012520", "gene_names_uniprotkb": "CFAP157; C9orf117", "gene_names_refseq": "C9orf117; CFAP157", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 157", "protein_names_refseq": "cilia- and flagella-associated protein 157", "tax_id": 9606, "disease": "", "pathway": " (hsa:286207)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;31844290;35051231;37217939", "class_list": "", "function": "Specifically required during spermatogenesis for flagellum morphogenesis and sperm motility. May be required to suppress the formation of supernumerary axonemes and ensure a correct ultrastructure., [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": 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": "A5D8T9", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0036064 ciliary basal body;GO:0005929 cilium", "go_biological_process": "GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5JU67-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5SW79-1", "uniprot_id": "CE170_HUMAN", "mass": 175293.0, "length": 1584, "protein_name": "Centrosomal protein of 170 kDa", "gene_name": "CEP170", "organism": "Human", "refseq_name": "centrosomal protein of 170 kDa isoform beta", "refseq_ac": "NP_001035863", "gene_names_uniprotkb": "CEP170; FAM68A; KAB; KIAA0470", "gene_names_refseq": "CEP170; FAM68A; KAB; KIAA0470", "protein_names_uniprotkb": "Centrosomal protein of 170 kDa; Cep170; KARP-1-binding protein; KARP1-binding protein", "protein_names_refseq": "KARP-1-binding protein; XRCC5 binding protein; centrosomal protein 170kDa; centrosomal protein of 170 kDa isoform beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:9859)", "pathway_count": 1, "publication_count": 114, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15616186;16083285;16964243;17081983;17287340;17525332;17924679;18212344;18452278;18510355;18669648;18767875;19007248;19413330;19415658;19651622;19664994;19690332;19691289;20068231;21406692;22028470;22645359;23186163;23301498;23386061;23481700;24714562;24715725;25576301;25645385;25810538;26024233;26154972;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28422092;28510447;28514659;28657654;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30354798;30379171;30410026;30524438;31154438;31217245;31373491;31492838;31789463;31844290;32119511;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34405274;34509645;34725712;35051231;35119360;35254053;35318648;35561310;35580925;36010968;36215666;36241641;37217939;37938771;38665916;39302247;39531497", "class_list": "", "function": "Alpha-/gamma-Taxilin are required for centriolar subdistal appendage assembly and microtubule organization. Publication Status: Online-Only, [RefSeq, PubMed]; Cep170 interacts with Polo-like kinase 1 in mature centrioles., [RefSeq, PubMed]; Plays a role in microtubule organization (PubMed:15616186). Required for centriole subdistal appendage assembly (PubMed:28422092)., [UniProtKB, PubMed, PubMed]; Plays a role in microtubule organization. Required for centriole subdistal appendage assembly., [UniProtKB, UniProtKB]; The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 93, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "O75058;Q5SW77;Q5SW78;Q7LGA9;Q86W31;Q9UQ08;Q9UQ09", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005819 spindle;GO:0005874 microtubule;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q5SW79-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5T035-1", "uniprot_id": "CI129_HUMAN", "mass": 20715.0, "length": 196, "protein_name": "Putative uncharacterized protein FAM120A2P", "gene_name": "FAM120A2P", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "FAM120A2P; C9orf129", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FAM120A2P; FAM120A2P pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "19413330;27846572;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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5T035-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VXU3-1", "uniprot_id": "CHIC1_HUMAN", "mass": 25616.0, "length": 224, "protein_name": "Cysteine-rich hydrophobic domain-containing protein 1", "gene_name": "CHIC1", "organism": "Human", "refseq_name": "cysteine-rich hydrophobic domain-containing protein 1 isoform 1", "refseq_ac": "NP_001034929", "gene_names_uniprotkb": "CHIC1; BRX", "gene_names_refseq": "BRX; CHIC1", "protein_names_uniprotkb": "Cysteine-rich hydrophobic domain-containing protein 1; Brain X-linked protein", "protein_names_refseq": "brain X-linked protein; cysteine-rich hydrophobic domain-containing protein 1 isoform 1; cysteine-rich hydrophobic domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:53344)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;30410026;31092671;31844290;9321471", "class_list": "", "function": "This gene encodes a cysteine-rich hydrophobic (CHIC) domain-containing protein, and is one of the few protein-coding genes found near the X-inactivation center. Studies in mouse indicate that the mouse ortholog of this gene is subject to X-inactivation in mouse. Experiments with other CHIC domain-containing family members show that the cysteine residues are palmitoylated post-translationally, resulting in membrane association. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_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": "A0PJZ2;B0QZ87;B9EGS5;Q5CZ84", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5VXU3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VXU9-1", "uniprot_id": "SHOC1_HUMAN", "mass": 165202.0, "length": 1444, "protein_name": "Protein shortage in chiasmata 1 ortholog", "gene_name": "SHOC1", "organism": "Human", "refseq_name": "protein shortage in chiasmata 1 ortholog isoform 2", "refseq_ac": "NP_001074020", "gene_names_uniprotkb": "SHOC1; C9orf84; ZIP2", "gene_names_refseq": "C9orf84; MZIP2; SHOC1; SPGF75; ZIP2H; ZIP2", "protein_names_uniprotkb": "Protein shortage in chiasmata 1 ortholog; 3.6.-.-; MZIP2; Protein ZIP2 homolog", "protein_names_refseq": "Zip2 homolog; protein ZIP2 homolog; protein shortage in chiasmata 1 ortholog isoform 2; protein shortage in chiasmata 1 ortholog; uncharacterized protein C9orf84", "tax_id": 9606, "disease": "spermatogenic failure 75 (Disease Ontology:DOID:0070574)", "pathway": " (hsa:158401)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;23481700;29557506;29742103;32387766;32741963;32900840;34087483;35051231;35485979", "class_list": "", "function": "ATPase required during meiosis for the formation of crossover recombination intermediates (By similarity). Binds DNA: preferentially binds to single-stranded DNA and DNA branched structures (PubMed:29742103). Does not show nuclease activity in vitro, but shows ATPase activity, which is stimulated by the presence of single-stranded DNA (PubMed:29742103). Plays a key role in homologous recombination and crossing-over in meiotic prophase I in male and female germ cells (By similarity). Required for proper synaptonemal complex assembly and homologous chromosome pairing (By similarity). Requiref for recruitment TEX11 and MSH4 to recombination intermediates (By similarity)., [UniProtKB, UniProtKB, PubMed]; Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia., [RefSeq, PubMed]; Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2A2V3;Q2M1H8;Q96M73", "ec_number_list": "", "go_molecular_function": "GO:0016887 ATP hydrolysis activity;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005694 chromosome", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:0007130 synaptonemal complex assembly;GO:0007131 reciprocal meiotic recombination", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5VXU9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VYM1-1", "uniprot_id": "S31G1_HUMAN", "mass": 117724.0, "length": 1079, "protein_name": "Spermatogenesis-associated protein 31G1", "gene_name": "SPATA31G1", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31G1 isoform B", "refseq_ac": "NP_001035500", "gene_names_uniprotkb": "SPATA31G1; C9orf131", "gene_names_refseq": "C9orf131; SPATA31G1", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31G1", "protein_names_refseq": "spermatogenesis-associated protein 31G1 isoform B; spermatogenesis-associated protein 31G1; uncharacterized protein C9orf131", "tax_id": 9606, "disease": "", "pathway": " (hsa:138724)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;18491316;35051231;35580925;36871790", "class_list": "", "function": "C9orf131 and C10orf120 are not essential for male fertility in humans or mice., [RefSeq, PubMed]; Dispensable for normal development and fertility., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NLE6;E9PB26;Q86XC6;Q9UF74", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5VYM1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6UY09-1", "uniprot_id": "CEA20_HUMAN", "mass": 65808.0, "length": 596, "protein_name": "Cell adhesion molecule CEACAM20", "gene_name": "CEACAM20", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM20 isoform 5L precursor", "refseq_ac": "NP_001096067", "gene_names_uniprotkb": "CEACAM20; PRO34155", "gene_names_refseq": "CEACAM20; UNQ9366", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM20; CEA cell adhesion molecule 20; Carcinoembryonic antigen-related cell adhesion molecule 20", "protein_names_refseq": "GPAD9366; carcinoembryonic antigen related cell adhesion molecule 20; cell adhesion molecule CEACAM20 isoform 5L precursor; cell adhesion molecule CEACAM20", "tax_id": 9606, "disease": "", "pathway": " (hsa:125931)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12975309;23358633;28659570;32161166", "class_list": "", "function": "Conclude that CEACAM20 and CEACAM1 not only mark the lumina of adult prostate tissue but also play a critical role in the vitro generation of prostate organoids, [RefSeq, PubMed]; Together with the tyrosine-protein kinase SYK, enhances production of the cytokine CXCL8/IL-8 via the NFKB pathway and may thus have a role in the intestinal immune response., [UniProtKB, UniProtKB]; Tyrosine phosphorylation of CEACAM20 likely promotes phagocytic activity Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 23, "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": "A0A087WXE1;A0A087WYH6;A0A087WYM6;A0A087WZX4;A0A087X155;A7LFK7;A7LFK8;A7LFK9;A7LFL0", "ec_number_list": "", "go_molecular_function": "GO:1990782 protein tyrosine kinase binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016324 apical plasma membrane;GO:0031528 microvillus membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0009617 response to bacterium;GO:0001819 positive regulation of cytokine production;GO:0002682 regulation of immune system process;GO:0002376 immune system process", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6UY09-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6ZQR2-1", "uniprot_id": "CFA77_HUMAN", "mass": 36499.0, "length": 320, "protein_name": "Cilia- and flagella-associated protein 77", "gene_name": "CFAP77", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 77 isoform 2", "refseq_ac": "NP_001269886", "gene_names_uniprotkb": "CFAP77; C9orf171", "gene_names_refseq": "C9orf171; CFAP77", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 77", "protein_names_refseq": "cilia- and flagella-associated protein 77 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:389799)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;16959974;19913121;20628086;24715725;28282151;29557506;32157095;33392160;35051231;36191189", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q147X1", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0005879 axonemal microtubule;GO:0160112 axonemal B tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6ZQR2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7LFX5-1", "uniprot_id": "CHSTF_HUMAN", "mass": 64926.0, "length": 561, "protein_name": "Carbohydrate sulfotransferase 15", "gene_name": "CHST15", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 15 isoform 1", "refseq_ac": "NP_001257693", "gene_names_uniprotkb": "CHST15; BRAG; GALNAC4S6ST; KIAA0598", "gene_names_refseq": "BRAG; CHST15; GALNAC4S-6ST", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 15; 2.8.2.33; B-cell RAG-associated gene protein; GalNAc4S-6ST; N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase; hBRAG", "protein_names_refseq": "B cell RAG associated protein (GALNAC4S-6ST); B-cell RAG-associated gene protein; carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15; carbohydrate sulfotransferase 15 isoform 1; hBRAG", "tax_id": 9606, "disease": "", "pathway": " (hsa:51363); (R-HSA-2022870); (R-HSA-2022923)", "pathway_count": 3, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;10187838;10749872;10781596;10781601;10963998;11032940;11056388;11139592;11237011;11414686;11470797;11514575;11572857;11788602;12080076;12145278;12163485;12512856;12556911;12761225;12874280;12907687;16024005;16505484;17081983;17227754;18316376;19188366;19661164;20533528;21129727;21129728;23090970;23704329;24190977;25576301;27599773;29314611;29393594;29514872;29557506;29632711;30429286;30459171;30779550;31154438;31844290;31848261;32161166;32983136;33123756;33592498;33691108;33968037;33981976;34087483;34922539;35051231;35580925;35798703;36284347;36608057;9754571;9883891", "class_list": "glycogene", "function": "Association of genetic variants of CircCHST15 with oral squamous cell carcinoma in the Chinese Han population., [RefSeq, PubMed]; CHST15 gene germline mutation is associated with the development of familial myeloproliferative neoplasms and higher transformation risk. Publication Status: Online-Only, [RefSeq, PubMed]; Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]; CircCHST15 is a novel prognostic biomarker that promotes clear cell renal cell carcinoma cell proliferation and metastasis through the miR-125a-5p/EIF4EBP1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Sulfotransferase that transfers sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to the C-6 hydroxyl group of the GalNAc 4-sulfate residue of chondroitin sulfate A and forms chondroitin sulfate E containing GlcA-GalNAc(4,6-SO(4)) repeating units. It also transfers sulfate to a unique non-reducing terminal sequence, GalNAc(4SO4)-GlcA(2SO4)-GalNAc(6SO4), to yield a highly sulfated structure similar to the structure found in thrombomodulin chondroitin sulfate. May also act as a B-cell receptor involved in BCR ligation-mediated early activation that mediate regulatory signals key to B-cell development and/or regulation of B-cell-specific RAG expression; however such results are unclear in vivo., [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 704, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O60338;O60474;Q86VM4", "ec_number_list": "2.8.2.33", "go_molecular_function": "GO:0050656 3'-phosphoadenosine 5'-phosphosulfate binding;GO:0050659 N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0019319 hexose biosynthetic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0050651 dermatan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q7LFX5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z4R8-1", "uniprot_id": "CF120_HUMAN", "mass": 20772.0, "length": 191, "protein_name": "UPF0669 protein C6orf120", "gene_name": "C6orf120", "organism": "Human", "refseq_name": "UPF0669 protein C6orf120 isoform 1 precursor", "refseq_ac": "NP_001025034", "gene_names_uniprotkb": "C6orf120", "gene_names_refseq": "C6orf120", "protein_names_uniprotkb": "UPF0669 protein C6orf120", "protein_names_refseq": "UPF0669 protein C6orf120 isoform 1 precursor; UPF0669 protein C6orf120", "tax_id": 9606, "disease": "", "pathway": " (hsa:387263); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "19159218;22340178;23650620;25645385;25880248;25892735;27920218;28228285;28832583;29242379;29493099;29632711;29741879;29786170;30429286;30833945;31154438;31844290;31848261;32157095;32357974;33141586;33298915;33592498;33912179;33968037;33981976;34357683;35051231;35318648;35561310;35580925;36284347;37938771;38523410;8692836", "class_list": "", "function": "May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes., [UniProtKB, PubMed]; Novel protein C6ORF120 promotes liver fibrosis by activating hepatic stellate cells through the PI3K/Akt/mTOR pathway., [RefSeq, PubMed]; Results suggested that C6ORF120 could induce apoptosis of CD4(+) T cells, at least in part, mediated with endoplasmic reticulum stress., [RefSeq, PubMed]; This gene encodes a conserved, N-glycosylated protein that likely functions in the cellular response to endoplasmic reticulum stress. This protein is able to induce apoptosis in vitro in CD4+ T-cells. Alternative splicing results in multiple transcript variants. [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DHE9;E1P5C9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q7Z4R8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z6I8-1", "uniprot_id": "CE024_HUMAN", "mass": 20132.0, "length": 188, "protein_name": "UPF0461 protein C5orf24", "gene_name": "C5orf24", "organism": "Human", "refseq_name": "UPF0461 protein C5orf24 isoform 1", "refseq_ac": "NP_001129058", "gene_names_uniprotkb": "C5orf24", "gene_names_refseq": "C5orf24", "protein_names_uniprotkb": "UPF0461 protein C5orf24", "protein_names_refseq": "UPF0461 protein C5orf24 isoform 1; UPF0461 protein C5orf24; feimin", "tax_id": 9606, "disease": "", "pathway": " (hsa:134553)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;17525332;20068231;23186163;23301498;25218447;25755297;26154972;26992070;27846572;28832583;28834231;29242379;29557506;30429286;31217245;31844290;31848261;32157095;32161166;32983136;33123756;33592498;33912179;35051231;35580925;36241641;36284347", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "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": "D3DQA7;Q86Y53;Q8N1T9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q7Z6I8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86SI9-1", "uniprot_id": "CEI_HUMAN", "mass": 15091.0, "length": 138, "protein_name": "Putative uncharacterized protein IRX2-DT", "gene_name": "IRX2-DT", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "IRX2-DT; C5orf38; CEI", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein IRX2-DT; Coordinated expression to IRXA2 protein; IRX2 divergent transcript; Protein CEI", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "16515847;33392160", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "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": "Q86SI9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q86X52-1", "uniprot_id": "CHSS1_HUMAN", "mass": 91784.0, "length": 802, "protein_name": "Chondroitin sulfate synthase 1", "gene_name": "CHSY1", "organism": "Human", "refseq_name": "chondroitin sulfate synthase 1", "refseq_ac": "NP_055733", "gene_names_uniprotkb": "CHSY1; CHSY; CSS1; KIAA0990; PRO1487", "gene_names_refseq": "CHSY1; CHSY; CSS1; ChSy-1; TPBS", "protein_names_uniprotkb": "Chondroitin sulfate synthase 1; 2.4.1.175; 2.4.1.226; ChSy-1; Chondroitin glucuronyltransferase 1; Chondroitin synthase 1; Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1; N-acetylgalactosaminyltransferase 1", "protein_names_refseq": "N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1; N-acetylgalactosaminyltransferase II; carbohydrate synthase 1; chondroitin glucuronyltransferase 1; chondroitin glucuronyltransferase II; chondroitin sulfate synthase 1; chondroitin synthase 1; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1", "tax_id": 9606, "disease": "temtamy preaxial brachydactyly syndrome (Disease Ontology:DOID:0050814)", "pathway": " (hsa:22856); (R-HSA-2022870); (R-HSA-3595177)", "pathway_count": 3, "publication_count": 65, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10187838;10781596;10781601;10963998;11056388;11139592;11237011;11514575;11788602;12080076;12145278;12163485;12716890;12761225;12874280;12907687;12975309;17227754;18316376;19952732;21129727;21129728;21468578;23584533;24190977;25502872;25892735;26992070;26997434;27599773;28467828;28514659;28652022;28832583;28834231;29242379;29314611;29393594;29514872;29557506;29769354;30429286;31217245;31611695;31844290;32157095;32350084;32357974;32387766;33392160;33912179;33936100;34357683;34412565;34716872;35051231;35251023;36010968;36215666;37217939;41298522;9823490;9883891", "class_list": "glycogene;glycosyltransferase", "function": "CHSY1 expression is closely associated with malignant potential of soft tissue sarcomas with myxoid substance., [RefSeq, PubMed]; CHSY1 is upregulated and acts as tumor promotor in gastric cancer through regulating cell proliferation, apoptosis, and migration., [RefSeq, PubMed]; CHSY1 overexpression in HCC contributes to the malignant behavior of hepatocellular carcinoma cells via activation of the hedgehog signaling pathway., [RefSeq, PubMed]; Catalytic component of CHSY1-CHPF2 and CHSY1-CHPF chondroitin sulfate synthase complexes (PubMed:41298522). Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer (PubMed:11514575, PubMed:12716890). Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Chondroitin polymerizing activity requires concomitant expression of a ChPF with ChSy; coexpression of the ChPF and ChSy yielded markedly augmented glycosyltransferase activities, whereas simple mixing of the two separately expressed proteins did not., [RefSeq, PubMed]; LncRNA LINC01094 contributes to glioma progression by modulating miR-224-5p/CHSY1 axis., [RefSeq, PubMed]; The present study focused on the expression of chondroitin-synthesizing enzymes in colorectal cancer., [RefSeq, PubMed]; This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]., [RefSeq]; Unrestricted Bmp2b signaling or loss of Dan activity leads to reduced chsy1 expression and, during epithelial morphogenesis, defects similar to those that occur upon Chsy1 inactivation, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 957, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6UX38;Q7LFU5;Q9Y2J5", "ec_number_list": "2.4.1.175;2.4.1.226;2.4.1.-", "go_molecular_function": "GO:0046872 metal ion binding;GO:0050510 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity;GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity;GO:0008376 acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0016020 membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0031667 response to nutrient levels;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0030279 negative regulation of ossification", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q86X52-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8IYW2-1", "uniprot_id": "CFA46_HUMAN", "mass": 303500.0, "length": 2715, "protein_name": "Cilia- and flagella-associated protein 46", "gene_name": "CFAP46", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 46", "refseq_ac": "NP_001186978", "gene_names_uniprotkb": "CFAP46; C10orf123; C10orf124; C10orf92; C10orf93; TTC40", "gene_names_refseq": "C10orf123; C10orf124; C10orf92; C10orf93; CFAP46; TTC40; bA288G11.4; bA288G11.5; bB137A17.2; bB137A17.3", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 46; Tetratricopeptide repeat protein 40", "protein_names_refseq": "TPR repeat-containing protein C10orf93; cilia- and flagella-associated protein 46; tetratricopeptide repeat domain 40; tetratricopeptide repeat protein 40", "tax_id": 9606, "disease": "", "pathway": " (hsa:54777)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11230166;11237011;16385451;25101295;28649982;29557506;30379171;31092671;31154438;31530632;31844290;33968037;33981976;35051231;35494241;35580925;36215666;36284347;37217939;39894887", "class_list": "", "function": "As part of the central apparatus of the cilium axoneme plays a role in cilium movement., [UniProtKB, UniProtKB]; Hypermethylation of 5'-TTC40 gene might play a role in nasopharyngeal carcinoma development; nevertheless, other studies are needed., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 56, "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": "B1AP44;B7WPK8;Q5JSF7;Q5SR76;Q5SR77;Q86ST2;Q8N777;Q9NTQ5", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005930 axoneme", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0035082 axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8IYW2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N0U6-1", "uniprot_id": "CF218_HUMAN", "mass": 13361.0, "length": 118, "protein_name": "Putative uncharacterized protein encoded by LINC00518", "gene_name": "LINC00518", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC00518; C6orf218", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00518", "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": "Q8N0U6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N2Z9-1", "uniprot_id": "CENPS_HUMAN", "mass": 15893.0, "length": 138, "protein_name": "Centromere protein S", "gene_name": "CENPS-CORT; CENPS", "organism": "Human", "refseq_name": "APITD1-CORT protein isoform 4", "refseq_ac": "NP_001257446", "gene_names_uniprotkb": "CENPS-CORT; CENPS; APITD1; CENPS-CORT; FAAP16; MHF1", "gene_names_refseq": "APITD1-CORT; CENPS-CORT", "protein_names_uniprotkb": "Centromere protein S; Apoptosis-inducing TAF9-like domain-containing protein 1; CENP-S; FANCM-associated histone fold protein 1; FANCM-interacting histone fold protein 1; Fanconi anemia-associated polypeptide of 16 kDa", "protein_names_refseq": "APITD1-CORT protein isoform 4; APITD1-CORT readthrough", "tax_id": 9606, "disease": "", "pathway": " (hsa:100526739); (hsa:378708); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-6783310); (R-HSA-68877); (R-HSA-9648025); (R-HSA-9833482)", "pathway_count": 12, "publication_count": 283, "publication_id_list": "10082513;10348343;10400669;10411507;10600384;10620360;10626894;10648614;10678165;10848580;10866685;10958683;11081627;11096080;11134010;11152499;11156368;11181178;11237011;11238103;11238927;11239454;11278865;11313968;11337501;11350938;11371342;11438540;11500375;11509732;11535616;11781817;11804586;11909525;11939789;11985496;12006501;12194817;12231563;12397061;12429848;12577064;12679384;12732141;12805219;12852857;12882984;1373135;14585331;14730319;15006353;15085137;15229216;15299030;15328517;15339662;15369671;15507212;15572677;15723797;15737063;15737233;15752359;15864301;15866170;15907845;15944396;16179258;16179259;16292343;16373505;16431927;16439214;16541025;16600570;16622419;16622420;16682347;16717090;16890222;16916645;16943183;16943440;1695551;16982605;17030981;17079286;17112726;17113138;17129783;17196341;17196820;17198702;17199038;17289582;17339379;1737036;17412408;17460694;17938197;18001770;18082604;18096616;18097444;18174376;18716626;18835251;18923426;18931676;18957415;19111657;19229320;19350017;19398759;19410544;19410545;19416861;19561358;19589784;19596236;19620631;19696148;19710021;19733181;19804757;19815554;19838063;19965387;19995904;20030946;20068231;20080577;20101212;20102227;20347428;20347429;20385554;20395957;20519500;20566683;20591975;20603015;20603016;20603073;20670894;20671156;20685959;21072047;21111234;21123651;21148482;21294215;21397845;21464321;21518807;21576392;21636578;21701511;21764741;21768289;21868368;21878504;21937648;21978664;21987589;21994559;22094460;22214662;22258451;22275430;22287633;22304917;22396592;2247437;22510687;22608513;22692201;22790947;22885700;22986343;23084476;23222643;23229543;23325218;23698467;23723247;23732991;23801653;24076221;24347309;24389026;24522885;24623135;24623813;24659800;24726325;24753571;24905007;24914801;25418920;25430771;25500724;25653431;25740311;25789526;25848059;26432638;26446704;26488609;26716879;26817845;26929215;26992070;27208315;27269119;27423063;27846572;27974558;28063628;28069888;28167698;28281686;28765891;28832583;28904123;29170442;29175459;29231267;29242379;29348664;29393594;29394925;29395325;29440070;29501855;29632046;30174290;30315122;30770398;31031002;31409757;32093270;32265295;32387766;32716602;32801355;32897882;33717175;33808629;33911136;33936100;33981976;34174402;34260926;34974812;35685460;35947956;36712380;37127961;7491766;7515177;7545299;7565688;7693978;7737357;7903669;8576172;8576179;8661426;8810342;8910500;9034343;9079663;9442054;9521856;9528799;9649308;9649503;9687506;9737981;9819388;9892021;9920933", "class_list": "", "function": "DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:20347428, PubMed:20347429). In complex with CENPX (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM (PubMed:20347428, PubMed:20347429). In complex with CENPX and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks (PubMed:20347428). In complex with CENPT, CENPW and CENPX (CENP-T-W-S-X heterotetramer), involved in the formation of a functional kinetochore outer plate, which is essential for kinetochore-microtubule attachment and faithful mitotic progression (PubMed:19620631). As a component of MHF and CENP-T-W-S-X complexes, binds DNA and bends it to form a nucleosome-like structure (PubMed:20347428, PubMed:22304917). DNA-binding function is fulfilled in the presence of CENPX, with the following preference for DNA substates: Holliday junction > double-stranded > splay arm > single-stranded. Does not bind DNA on its own (PubMed:20347428, PubMed:20347429)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This locus represents naturally occurring read-through transcription between the neighboring APITD1 (apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple transcript variants, two of which encode fusion proteins that share sequence identity with the products of each individual gene. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NFE5;Q8NFG5", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0046982 protein heterodimerization activity;GO:0005179 hormone activity", "go_cellular_component": "GO:0043240 Fanconi anaemia nuclear complex;GO:0071821 FANCM-MHF complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:0006281 DNA repair;GO:0007059 chromosome segregation;GO:0051301 cell division;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 28.4, "record_id": "Q8N2Z9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N365-1", "uniprot_id": "CIART_HUMAN", "mass": 41443.0, "length": 385, "protein_name": "Circadian-associated transcriptional repressor", "gene_name": "CIART", "organism": "Human", "refseq_name": "circadian-associated transcriptional repressor isoform a", "refseq_ac": "NP_001287767", "gene_names_uniprotkb": "CIART; C1orf51", "gene_names_refseq": "C1orf51; CHRONO; CIART; GM129", "protein_names_uniprotkb": "Circadian-associated transcriptional repressor; ChIP-derived repressor of network oscillator; Chrono; Computationally highlighted repressor of the network oscillator", "protein_names_refseq": "chIP-derived repressor of network oscillator; circadian-associated transcriptional repressor isoform a; circadian-associated transcriptional repressor; computationally highlighted repressor of the network oscillator", "tax_id": 9606, "disease": "", "pathway": " (hsa:148523)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;24385426;26992070;28010116;29557506;31844290;31848261;33392160;33592498;33912179;35051231;36918693;38253038", "class_list": "", "function": "A multi-organoid platform identifies CIART as a key factor for SARS-CoV-2 infection., [RefSeq, PubMed]; Study shows that:1- Chrono is a circadian clock gene whose transcription exhibits a robust circadian oscillation. 2- Is is a repressor of circadian transcriptional/translational feedback loops. 3- It may function to link epigenetic control mechanisms to stress responses. [review] Review article, [RefSeq, PubMed]; Transcriptional repressor which forms a negative regulatory component of the circadian clock and acts independently of the circadian transcriptional repressors: CRY1, CRY2 and BHLHE41. In a histone deacetylase-dependent manner represses the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Abrogates the interaction of BMAL1 with the transcriptional coactivator CREBBP and can repress the histone acetyl-transferase activity of the CLOCK-BMAL1 heterodimer, reducing histone acetylation of its target genes. Rhythmically binds the E-box elements (5'-CACGTG-3') on circadian gene promoters and its occupancy shows circadian oscillation antiphasic to BMAL1. Interacts with the glucocorticoid receptor (NR3C1) and contributes to the repressive function in the glucocorticoid response (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RD43;D3DV01;Q8N795;Q96MG6", "ec_number_list": "", "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0070888 E-box binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016605 PML body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045475 locomotor rhythm;GO:0032922 circadian regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8N365-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8N6W0-1", "uniprot_id": "CELF5_HUMAN", "mass": 52355.0, "length": 485, "protein_name": "CUGBP Elav-like family member 5", "gene_name": "CELF5", "organism": "Human", "refseq_name": "CUGBP Elav-like family member 5 isoform 2", "refseq_ac": "NP_001166144", "gene_names_uniprotkb": "CELF5; BRUNOL5", "gene_names_refseq": "BRUNOL-5; BRUNOL5; CELF-5; CELF5", "protein_names_uniprotkb": "CUGBP Elav-like family member 5; Bruno-like protein 5; CELF-5; CUG-BP- and ETR-3-like factor 5; RNA-binding protein BRUNOL-5", "protein_names_refseq": "CUG-BP and ETR-3 like factor 5; CUGBP Elav-like family member 5 isoform 2; RNA-binding protein BRUNOL-5; bruno-like 5 RNA binding protein", "tax_id": 9606, "disease": "myotonic dystrophy type 1 (Disease Ontology:DOID:11722); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:60680)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10893231;11158314;11237011;25892735;26992070;27600516;29242379;29557506;31844290;32157095;32488085;33592498;33912179;34087483;36241641", "class_list": "", "function": "RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA., [UniProtKB, PubMed]; This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing and translation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6W614;O75253;Q59GP2;Q86VW6;Q9BZC0;Q9NR86", "ec_number_list": "", "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003729 mRNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006376 mRNA splice site recognition;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8N6W0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NAJ2-1", "uniprot_id": "CI106_HUMAN", "mass": 25013.0, "length": 232, "protein_name": "Putative uncharacterized protein encoded by LINC02913", "gene_name": "LINC02913", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC02913; C9orf106", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC02913", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "29557506;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": "A2RU00", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NAJ2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NCG5-1", "uniprot_id": "CHST4_HUMAN", "mass": 45134.0, "length": 386, "protein_name": "Carbohydrate sulfotransferase 4", "gene_name": "CHST4", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 4", "refseq_ac": "NP_001159867", "gene_names_uniprotkb": "CHST4", "gene_names_refseq": "CHST4; GST3; GlcNAc6ST2; HECGLCNAC6ST; LSST", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 4; 2.8.2.-; GST-3; Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 3; GlcNAc6ST-2; Gn6st-2; HEC-GlcNAc6ST; High endothelial cells N-acetylglucosamine 6-O-sulfotransferase; L-selectin ligand sulfotransferase; LSST; N-acetylglucosamine 6-O-sulfotransferase 2", "protein_names_refseq": "GST-3; HEC-GlcNAc6ST; L-selectin ligand sulfotransferase; N-acetylglucosamine 6-O-sulfotransferase 2; carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4; carbohydrate sulfotransferase 4; galactose/N-acetylglucosamine/N-acetylgalactosamine 6-O-sulfotransferase 3; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 3; glcNAc6ST-2; gn6st-2; high endothelial cells N-acetylglucosamine 6-O-sulfotransferase", "tax_id": 9606, "disease": "macular corneal dystrophy (Disease Ontology:DOID:2565)", "pathway": " (hsa:10164); (R-HSA-913709)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10330415;10430883;10753916;11042166;11181564;11283017;11304796;11310842;11439191;11726653;11821425;12107080;12855678;1329093;15220337;15486459;15560372;15620693;17113861;18537974;19156517;22183981;23090970;24190977;24643043;24799377;27748735;30093410;31092671;31844290;7655172;9295285;9394011;9417100;9435216;9915862;9988682", "class_list": "glycogene", "function": "A method for O-GlcNAc detection using in vitro sulfation with two N-acetylglucosamine (GlcNAc)-specific sulfotransferases, carbohydrate sulfotransferase 2 and carbohydrate sulfotransferase 4., [RefSeq, PubMed]; Data suggest that GlcNAc6ST-2 (CHST4) is critical for biosynthesis of MECA-79 sulfated glycans in apical membranes of small-sized intrahepatic bile ducts and of cholangiolocellular carcinoma (CoCC) cells; MUC1 protein decorated with GlcNAc6ST-2-dependent MECA-79 sulfated glycans may serve as a useful CoCC marker., [RefSeq, PubMed]; GlcNAc6ST2 could therefore be a good serological marker for detecting early-stage uterine cervical and corpus cancers., [RefSeq, PubMed]; MRNA transcript analyses on the genes involved in synthesizing GlcNAc-6-O-sulfated glycans in human colon cancer tissues indicated that GlcNAc6ST-2 (CHST4) is preferentially expressed in cancer cells ... GlcNAc6ST-3 (CHST5) was only expressed in nonmalignant epithelial cells, whereas GlcNAc6ST-1 (CHST2) was expressed equally in both cancerous and nonmalignant epithelial cells., [RefSeq, PubMed]; Sulfotransferase involved in SELL/L-selectin ligand biosynthesis pathway. Catalyzes the transfer of the sulfate group from 3'-phospho-5'-adenylyl sulfate (PAPS) onto the hydroxyl group at C-6 position of the non-reducing N-acetylglucosamine (GlcNAc) residue within O-linked mucin-type glycans. Contributes to generate sialyl 6-sulfo Lewis X determinant (also known as MECA-79 epitope) for SELL recognition, a prerequisite for continuous lymphocyte homing into peripheral lymph nodes and antigen immune surveillance (PubMed:10330415, PubMed:11439191, PubMed:11726653, PubMed:12107080). Transfers the sulfate group primarily on core 2 GlcNAcbeta1-6(Galbeta1-3)GalNAcalphaSer/Thr and extended core 1 GlcNAcbeta1-3Galbeta1-3GalNAcalphaSer/Thr based O-linked glycans on CD34 and GLYCAM1 peripheral node addressins (PNAds) expressed on the lumenal side of high endothelial venules (HEVs) (PubMed:11439191). The recognition of PNAds by SELL initiates a multistep process comprising tethering and rolling of blood lymphocytes on HEVs against the blood flow, followed by chemokine signaling, integrin-mediated lymphocyte adhesion onto endothelial cells and lymphocyte transendothelial migration. Modulates rolling velocity and differential T and B lymphocyte recruitment into peripheral lymph nodes, with a major role in B lymphocyte homing. Might be redundant in sulfation of MADCAM1 and lymphocyte trafficking to mesenteric lymph nodes (By similarity). Can also sulfonate core 3 GlcNAcbeta1-3GalNAc-R based glycans as well as GlcNAcbeta1-3Galbeta1-Glc, GlcNAcbeta1-6ManOMe and GlcNAcbeta1-2Man oligosaccharides, which might be ectopically expressed during tumorigenesis (PubMed:11439191, PubMed:11726653, PubMed:12107080)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3'phosphoadenosine 5'phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 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": 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": 503, "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": "Q8IV46;Q9Y5R3", "ec_number_list": "2.8.2.-", "go_molecular_function": "GO:0001517 N-acetylglucosamine 6-O-sulfotransferase activity;GO:0008146 sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0006477 protein sulfation;GO:1903238 positive regulation of leukocyte tethering or rolling;GO:0006954 inflammatory response;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8NCG5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8NHU2-1", "uniprot_id": "CFA61_HUMAN", "mass": 141349.0, "length": 1237, "protein_name": "Cilia- and flagella-associated protein 61", "gene_name": "CFAP61", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 61 isoform 2", "refseq_ac": "NP_001161288", "gene_names_uniprotkb": "CFAP61; C20orf26", "gene_names_refseq": "C20orf26; CFAP61; CaM-IP3; SPGF84; dJ1002M8.3; dJ1178H5.4", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 61", "protein_names_refseq": "cilia- and flagella-associated protein 61 isoform 2", "tax_id": 9606, "disease": "oligoasthenoteratozoospermia (Disease Ontology:DOID:0070311); spermatogenic failure 84 (Disease Ontology:DOID:0070583)", "pathway": " (hsa:26074)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;19240061;23033978;25892735;27543614;28228285;28282151;29351928;29557506;30379171;33592498;34792097;35051231;35174165;35387802;36284347;37982895;38775994", "class_list": "", "function": "Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia., [RefSeq, PubMed]; CFAP61 is required for sperm flagellum formation and male fertility in human and mouse., [RefSeq, PubMed]; CFAP61 knockdown aggravates male infertility by inhibiting testosterone secretion by Leydig cells via the MAPK/COX-2 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella., [RefSeq, PubMed]; Involved in sperm flagellum assembly (PubMed:34792097, PubMed:35174165). Plays an essential role in the formation of the radial spokes in flagellum axoneme (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; 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": 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": 54, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NHA1;Q5JXV4;Q5TE18;Q8N5R9;Q96M59;Q9BQL2;Q9H127;Q9H128;Q9NQH4;Q9UFV8;Q9Y4V7", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0031514 motile cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement;GO:0044782 cilium organization;GO:0120316 sperm flagellum assembly;GO:0120317 sperm mitochondrial sheath assembly", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8NHU2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUH1-4", "uniprot_id": "CHUR_HUMAN", "mass": 12887.0, "length": 112, "protein_name": "Protein Churchill", "gene_name": "CHURC1", "organism": "Human", "refseq_name": "protein Churchill isoform 3", "refseq_ac": "NP_001190993", "gene_names_uniprotkb": "CHURC1; C14orf52; CHCH; My015", "gene_names_refseq": "C14orf52; CHURC1; My015; chch", "protein_names_uniprotkb": "Protein Churchill", "protein_names_refseq": "protein Churchill isoform 3; protein Churchill", "tax_id": 9606, "disease": "", "pathway": " (hsa:91612)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "17610897;21360829;25576301;26992070;28063628;28228285;28832583;28834231;29242379;29393594;29632046;29769354;30315122;31154438;38665916", "class_list": "", "function": "Does not bind DNA by itself., [UniProtKB, PubMed]; Embryonic neural inducing factor churchill is not a DNA-binding zinc finger protein: solution structure reveals a solvent-exposed beta-sheet and zinc binuclear cluster, [RefSeq, PubMed]; This is the first implication of chr14q23.2-23.3 in the etiology of autism and points to MTHFD1, PLEKHG3, and CHURC1 as potential candidate genes contributing to autism risk., [RefSeq, PubMed]; Transcriptional activator that mediates FGF signaling during neural development (By similarity). Plays a role in the regulation of cell movement (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A0A0C4DGJ7;B3KQ81;G3V1X3;G3V214;Q9H3K7", "ec_number_list": "", "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0008543 fibroblast growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8WUH1-4", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WUX2-1", "uniprot_id": "CHAC2_HUMAN", "mass": 20875.0, "length": 184, "protein_name": "Glutathione-specific gamma-glutamylcyclotransferase 2", "gene_name": "CHAC2", "organism": "Human", "refseq_name": "glutathione-specific gamma-glutamylcyclotransferase 2 isoform 1", "refseq_ac": "NP_001008708", "gene_names_uniprotkb": "CHAC2", "gene_names_refseq": "CHAC2; GCG1", "protein_names_uniprotkb": "Glutathione-specific gamma-glutamylcyclotransferase 2; 4.3.2.7; Cation transport regulator-like protein 2; Gamma-GCG 2", "protein_names_refseq": "ChaC cation transport regulator homolog 2; ChaC, cation transport regulator-like 2; cation transport regulator-like protein 2; gamma-GCG 2; gamma-GCT acting on glutathione homolog 2; glutathione-specific gamma-glutamylcyclotransferase 2 isoform 1; putative glutathione-specific gamma-glutamylcyclotransferase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:494143); (R-HSA-174403)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10369661;12473676;17924658;18357469;18515354;19109178;19463;21712391;23301498;23682772;2573352;25880248;25931127;26992070;27913623;27920218;28228285;28510447;28832583;28834231;28837156;28904123;29054545;29242379;29393594;29632046;30315122;31530632;31844290;31878259;32157095;32161166;32350084;32357974;32387766;32502341;32938616;33141586;33392160;33912179;33968037;33981976;35051231;38190483;7646467;7826375;8813074;9080;9516961;9675072", "class_list": "", "function": "Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides., [UniProtKB, PubMed]; E3 ubiquitin ligase RNF148 functions as an oncogene in colorectal cancer by ubiquitination-mediated degradation of CHAC2., [RefSeq, PubMed]; Human and mouse ChaC2 proteins purified in vitro show 10-20-fold lower catalytic efficiency than ChaC1, although they showed comparable Km values, [RefSeq, PubMed]; Results showed for the first time that CHAC2 was degraded by the ubiquitin-proteasome pathway and CHAC2 expression inhibited tumor cell growth, proliferation, migration in vitro and in vivo. Mechanistic study showed that CHAC2 induced mitochondrial apoptosis and autophagy through unfolded protein response. Publication Status: Online-Only, [RefSeq, PubMed]; Structural and Functional Analyses of Human ChaC2 in Glutathione Metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; The data revealed that CHAC2 prevented CHAC1-mediated GSH degradation, which suggests that CHAC2 competes with CHAC1 to maintain GSH homeostasis., [RefSeq, PubMed]; The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances apoptosis. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q8WVI8", "ec_number_list": "4.3.2.7", "go_molecular_function": "GO:0061928 glutathione specific gamma-glutamylcyclotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006751 glutathione catabolic process;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q8WUX2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WZB0-1", "uniprot_id": "CI130_HUMAN", "mass": 14715.0, "length": 136, "protein_name": "Putative uncharacterized protein ERCC6L2-AS1", "gene_name": "ERCC6L2-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "ERCC6L2-AS1; C9orf130; LINC00476; NAG12", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ERCC6L2-AS1; ERCC6L2 antisense RNA 1; Nasopharyngeal carcinoma-associated gene 12 protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8WZB0-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96CB5-1", "uniprot_id": "CH044_HUMAN", "mass": 18380.0, "length": 159, "protein_name": "Putative uncharacterized protein C8orf44", "gene_name": "C8orf44", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "C8orf44", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein C8orf44", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "26154972;31844290;32502341", "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": "Q9NUM6", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96CB5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96LL4-1", "uniprot_id": "CH048_HUMAN", "mass": 36790.0, "length": 319, "protein_name": "Uncharacterized protein C8orf48", "gene_name": "C8orf48", "organism": "Human", "refseq_name": "uncharacterized protein C8orf48", "refseq_ac": "NP_001007091", "gene_names_uniprotkb": "C8orf48", "gene_names_refseq": "C8orf48", "protein_names_uniprotkb": "Uncharacterized protein C8orf48", "protein_names_refseq": "uncharacterized protein C8orf48", "tax_id": 9606, "disease": "", "pathway": " (hsa:157773)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "28832583;30379171;31844290;33309715;33968037;37340703", "class_list": "", "function": "C8orf48 inhibits the tumorigenesis of colorectal cancer by regulating the MAPK signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q96LJ9", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q96LL4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MD7-3", "uniprot_id": "CI085_HUMAN", "mass": 20166.0, "length": 179, "protein_name": "Uncharacterized protein C9orf85", "gene_name": "C9orf85", "organism": "Human", "refseq_name": "uncharacterized protein C9orf85 isoform 2", "refseq_ac": "NP_872311", "gene_names_uniprotkb": "C9orf85", "gene_names_refseq": "C9orf85", "protein_names_uniprotkb": "Uncharacterized protein C9orf85", "protein_names_refseq": "uncharacterized protein C9orf85 isoform 2; uncharacterized protein C9orf85", "tax_id": 9606, "disease": "", "pathway": " (hsa:138241)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "18669648;19690332;22645359;26992070;28832583;29242379;32157095;32265295;33633747;34509645;36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5W0N1;Q5W0N3;Q6PJW9;Q86U95", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96MD7-3", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MR6-1", "uniprot_id": "CFA57_HUMAN", "mass": 144961.0, "length": 1250, "protein_name": "Cilia- and flagella-associated protein 57", "gene_name": "CFAP57", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 57 isoform b", "refseq_ac": "NP_001161437", "gene_names_uniprotkb": "CFAP57; WDR65", "gene_names_refseq": "CFAP57; SPGF95; VWS2; WDR65", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 57; WD repeat-containing protein 65", "protein_names_refseq": "WD repeat-containing protein 65; cilia- and flagella-associated protein 57 isoform b", "tax_id": 9606, "disease": "spermatogenic failure 95 (Disease Ontology:DOID:0070594); male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:149465)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;21574244;25576301;28832583;29242379;29557506;31222486;32502341;32764743;33141586;35051231;35580925;36752199;39894887", "class_list": "", "function": "A missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome., [RefSeq, PubMed]; Associates with components of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility, and might act as an inner dynein arm (IDA) hub or linkage., [UniProtKB, PubMed]; Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. Publication Status: Online-Only, [RefSeq, PubMed]; This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NKQ3;Q17RI9;Q5TAI0", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96MR6-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96MT7-2", "uniprot_id": "CFA44_HUMAN", "mass": 213865.0, "length": 1854, "protein_name": "Cilia- and flagella-associated protein 44", "gene_name": "CFAP44", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 44 isoform 1", "refseq_ac": "NP_001157968", "gene_names_uniprotkb": "CFAP44; WDR52", "gene_names_refseq": "CFAP44; SPGF20; WDR52", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 44; WD repeat-containing protein 52", "protein_names_refseq": "WD repeat domain 52; WD repeat-containing protein 52; cilia- and flagella-associated protein 44 isoform 1", "tax_id": 9606, "disease": "spermatogenic failure 20 (Disease Ontology:DOID:0070166)", "pathway": " (hsa:55779)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "19690332;25602530;25892735;28552195;29277146;29449551;30904354;31844290;33592498;33968037;35051231;35494241;37217939;38253038", "class_list": "", "function": "Biallelic mutations in either CFAP43 or CFAP44 can cause sperm flagellar abnormalities and impair sperm motility., [RefSeq, PubMed]; Demonstrate that CFAP43 and CFAP44 have a similar structure with a unique axonemal localization and are necessary to produce functional flagella in species ranging from Trypanosoma to human Publication Status: Online-Only, [RefSeq, PubMed]; Flagellar protein involved in sperm flagellum axoneme organization and function., [UniProtKB, UniProtKB]; Important cause of multiple morphological abnormalities of the sperm flagellum in the Chinese population, [RefSeq, PubMed]; Results show that the rs13064411 polymorphism in the WDR52 gene was associated with a modified effect of statin therapy on serum LDL and total cholesterol levels., [RefSeq, PubMed]; Study demonstrated that biallelic mutations in CFAP44 and CFAP43 cause multiple morphological abnormalities of the sperm flagella (MMAF). These results provide researchers with a new insight to understand the genetic etiology of MMAF and to identify new loci for genetic counselling of MMAF., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 31, "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:0008233 peptidase activity", "go_cellular_component": "GO:0031514 motile cilium;GO:0005930 axoneme", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization;GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96MT7-2", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96T76-1", "uniprot_id": "MMS19_HUMAN", "mass": 113290.0, "length": 1030, "protein_name": "MMS19 nucleotide excision repair protein homolog", "gene_name": "MMS19", "organism": "Human", "refseq_name": "MMS19 nucleotide excision repair protein homolog isoform 2", "refseq_ac": "NP_001276332", "gene_names_uniprotkb": "MMS19; MMS19L", "gene_names_refseq": "CIAO4; MET18; MMS19L; MMS19; hMMS19", "protein_names_uniprotkb": "MMS19 nucleotide excision repair protein homolog; MET18 homolog; MMS19-like protein; hMMS19", "protein_names_refseq": "MET18 homolog; MMS19 homolog, cytosolic iron-sulfur assembly component; MMS19 nucleotide excision repair homolog; MMS19 nucleotide excision repair protein homolog isoform 2; MMS19 nucleotide excision repair protein homolog; MMS19-like (MET18 homolog, S. cerevisiae); MMS19-like protein; homolog of yeast MMS19", "tax_id": 9606, "disease": "", "pathway": " (hsa:64210); (R-HSA-2564830)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "11071939;11237011;11279242;11328871;16385451;16797255;18573874;18625724;18691976;19608861;19651622;20068231;20797633;20802492;21136679;22544926;22678361;22678362;23150669;23301498;23481700;23585563;24366607;24397554;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26811146;26992070;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29225034;29242379;29393594;29557506;29632046;29632711;29769354;29786170;29848660;30315122;30410026;30524438;30742009;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32632277;32897882;32938616;32983136;33091337;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34019948;34171305;34357683;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36284347;37201439;37938771;38411040;38665916;39894887", "class_list": "", "function": "CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders., [RefSeq, PubMed]; Cloning of the human MMS19 genes and functional complementation in Saccharomyces cerevisiae, [RefSeq, PubMed]; Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic integrity. In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular target iron-sulfur proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MMS19 HEAT repeat domain is essential for MMS19 function in NER and transcription, while domains A and B, within MMS19 N-terminus, modulate the balance between DNA repair and transcription., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structural insights into Fe-S protein biogenesis by the CIA targeting complex., [RefSeq, PubMed]; The c-MYC transcription factor conduces to resistance to cisplatin by regulating MMS19 in bladder cancer cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "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": "B0QZ75;B3KPE5;B4DQX2;B4E2I3;D3DR55;F8W9Y2;Q17RZ8;Q5T455;Q66K82;Q7L4W8;Q969Z1;Q96DF1;Q96MR1;Q96RK5;Q96SK1;Q9BUE2;Q9BYS9", "ec_number_list": "", "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity;GO:0030331 nuclear estrogen receptor binding;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0097361 cytosolic [4Fe-4S] assembly targeting complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0007059 chromosome segregation;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q96T76-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BWS9-1", "uniprot_id": "CHID1_HUMAN", "mass": 44941.0, "length": 393, "protein_name": "Chitinase domain-containing protein 1", "gene_name": "CHID1", "organism": "Human", "refseq_name": "chitinase domain-containing protein 1 isoform a precursor", "refseq_ac": "NP_001136146", "gene_names_uniprotkb": "CHID1; GL008; PSEC0104; SB139", "gene_names_refseq": "CHID1; GL008; SI-CLP; SICLP", "protein_names_uniprotkb": "Chitinase domain-containing protein 1; SI-CLP; Stabilin-1-interacting chitinase-like protein", "protein_names_refseq": "chitinase domain-containing protein 1 isoform a precursor; chitinase domain-containing protein 1; stabilin-1 interacting chitinase-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:66005); (R-HSA-114608)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "11237011;1435334;14630798;14702039;15297306;15489334;16303743;16357325;19199708;19275751;19946888;20724479;21269460;23481700;23640497;24366607;24714562;25241909;25576301;25645385;25944712;26154972;26375851;26728094;26733160;26992070;27600516;27846572;27920218;28063628;28218747;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29632046;29786170;30315122;30410026;30429286;30524438;30833945;31020640;31106867;31217245;31611695;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33466316;33592498;33717175;33912179;33924468;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35154160;35251023;35580925;35932496;36010968;36215666;36284347;6457647;8467233", "class_list": "glycogene;glycosylhydrolase", "function": "Brain CHID1 Expression Correlates with NRGN and CALB1 in Healthy Subjects and AD Patients. Publication Status: Online-Only, [RefSeq, PubMed]; CHID1 Is a Novel Prognostic Marker of Non-Small Cell Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Chitinase domain containing 1 increase is associated with low survival rate and M0 macrophages infiltrates in colorectal cancer patients., [RefSeq, PubMed]; Saccharide- and LPS-binding protein with possible roles in pathogen sensing and endotoxin neutralization. Ligand-binding specificity relates to the length of the oligosaccharides, with preference for chitotetraose (in vitro)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Structure of human stabilin-1 interacting chitinase-like protein (SI-CLP) reveals a saccharide-binding cleft with lower sugar-binding selectivity., [RefSeq, PubMed]; The crystals of SI-CLP belong to the space group P3(2)21 with unit cell parameters a=b=99.79 A, c=250.53 A, alpha=beta=90 degrees, gamma=120 degrees., [RefSeq, PubMed]; These results indicate that CHID1 positively regulates RLR antiviral signal, revealing the novel mechanism of the RIG-I antiviral signaling pathway., [RefSeq, PubMed]; This review comprehensively analyzes recent data about expression pattern, and involvement of human YKL-40, YKL-39 and SI-CLP in cancer. [review] Review article, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 490, "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": "B3KWB0;Q8NBM9;Q96CZ3;Q96S93;Q96SK0;Q9BY52", "ec_number_list": "", "go_molecular_function": "GO:0070492 oligosaccharide binding;GO:0008061 chitin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045087 innate immune response;GO:0005975 carbohydrate metabolic process;GO:1900016 negative regulation of cytokine production involved in inflammatory response", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9BWS9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9C0D2-1", "uniprot_id": "CE295_HUMAN", "mass": 295176.0, "length": 2601, "protein_name": "Centrosomal protein of 295 kDa", "gene_name": "CEP295", "organism": "Human", "refseq_name": "centrosomal protein of 295 kDa", "refseq_ac": "NP_203753", "gene_names_uniprotkb": "CEP295; KIAA1731", "gene_names_refseq": "CEP295; KIAA1731; SCKL11", "protein_names_uniprotkb": "Centrosomal protein of 295 kDa", "protein_names_refseq": "centriolar protein CEP295; centrosomal protein 295kDa; centrosomal protein of 295 kDa", "tax_id": 9606, "disease": "Seckel syndrome 11 (MONDO:MONDO:0958328)", "pathway": " (hsa:85459)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;20844083;23186163;23481700;24714562;24715725;25131205;25576301;25813380;26154972;26992070;27185865;27562453;27600516;27846572;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30484775;30779550;31217245;31530632;31844290;32060285;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34211107;34405274;34418690;34509645;34932366;35051231;35254053;35580925;36010968;36215666;36241641;36284347;37217939;38154379;39531497", "class_list": "", "function": "A newborn centriole-enriched protein, KIAA1731/CEP295, specifically mediates centriole-to-centrosome conversion but dispensable for cartwheel removal., [RefSeq, PubMed]; Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities., [RefSeq, PubMed]; Centriole-enriched microtubule-binding protein involved in centriole biogenesis (PubMed:20844083, PubMed:25131205, PubMed:27185865, PubMed:38154379). Essential for the generation of the distal portion of new-born centrioles in a CPAP- and CEP120-mediated elongation dependent manner during the cell cycle S/G2 phase after formation of the initiating cartwheel structure (PubMed:27185865). Required for the recruitment of centriolar proteins, such as POC1B, POC5 and CEP135, into the distal portion of centrioles (PubMed:27185865). Also required for centriole-to-centrosome conversion during mitotic progression, but is dispensable for cartwheel removal or centriole disengagement (PubMed:25131205). Binds to and stabilizes centriolar microtubule (PubMed:27185865). May be involved in ciliogenesis (PubMed:38154379)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women., [RefSeq, PubMed]; Data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1., [RefSeq, PubMed]; Our results indicate that CEP295 directly interacts with microtubules, and that excess CEP295 could induce the assembly of overly long centrioles. Furthermore, exogenous expression of the N-terminal domain of CEP295 exerts a dominant-negative effect on centriole elongation. Collectively, these findings suggest that CEP295 is essential for building the distal half centrioles and for post-translational modification of centr, [RefSeq, PubMed]; Study shows that the interaction between Cep295 and Cep192 seems to be crucial for the integrity of centriole structure and also for daughter-to-mother centriole conversion. 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": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "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": "C9J5H9;C9JQY8;Q8N7L4;Q8N919;Q8N9B0;Q96LT8", "ec_number_list": "", "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005814 centriole", "go_biological_process": "GO:1901985 positive regulation of protein acetylation;GO:1904951 positive regulation of establishment of protein localization;GO:0030030 cell projection organization;GO:0046599 regulation of centriole replication;GO:1903724 positive regulation of centriole elongation", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9C0D2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZS9-1", "uniprot_id": "CHST5_HUMAN", "mass": 46161.0, "length": 411, "protein_name": "Carbohydrate sulfotransferase 5", "gene_name": "CHST5", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 5", "refseq_ac": "NP_078809", "gene_names_uniprotkb": "CHST5", "gene_names_refseq": "CHST5; I-GlcNAc-6-ST; I-GlcNAc6ST; glcNAc6ST-3; gn6st-3; hIGn6ST", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 5; 2.8.2.-; GST4-alpha; Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-alpha; GlcNAc6ST-3; Gn6st-3; I-GlcNAc6ST; Intestinal GlcNAc-6-sulfotransferase; Intestinal N-acetylglucosamine-6-O-sulfotransferase; N-acetylglucosamine 6-O-sulfotransferase 3; hIGn6ST", "protein_names_refseq": "GST4-alpha; N-acetylglucosamine 6-O-sulfotransferase 3; carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5; carbohydrate sulfotransferase 5; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-alpha; intestinal GlcNAc-6-sulfotransferase", "tax_id": 9606, "disease": "macular corneal dystrophy (Disease Ontology:DOID:2565)", "pathway": " (hsa:23563); (R-HSA-2022854)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10206952;10491328;10504389;11017086;11030741;11042166;11042394;11237011;11278593;11283017;11352640;11588157;11821425;11901181;12107080;12218059;12626414;12855678;15486459;15560372;15620693;17021253;1714903;19343046;19844255;20453000;27600516;28218747;29437277;29557506;29789417;30093410;31154438;32502341;34185709;34211107;35051231;37217939;38034954;39894887;8333853;8611500;8920913;9405439;9417100;9597550", "class_list": "glycogene", "function": "MRNA transcript analyses on the genes involved in synthesizing GlcNAc-6-O-sulfated glycans in human colon cancer tissues indicated that GlcNAc6ST-2 (CHST4) is preferentially expressed in cancer cells ... GlcNAc6ST-3 (CHST5) was only expressed in nonmalignant epithelial cells, whereas GlcNAc6ST-1 (CHST2) was expressed equally in both, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues and O-linked sugars of mucin-type acceptors (PubMed:10491328, PubMed:12218059, PubMed:12626414, PubMed:30093410). Acts on the non-reducing terminal GlcNAc of short carbohydrate substrates (in vitro) (PubMed:12218059). Preferentially add sulfate onto core 2- based O-glycan structures, but does not act on extended core 1 structures (in vitro) (PubMed:30093410). Involved in sulfation of endothelial mucins such as GLYCAM1 (PubMed:10491328, PubMed:12855678). Has no activity toward keratan (PubMed:11278593). Not involved in generating HEV-expressed ligands for SELL (PubMed:12855678)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the Gal/GalNAc/GlcNAc 6-O-sulfotransferase (GST) family, members of which catalyze the transfer of sulfate to position 6 of galactose (Gal), N-acetylgalactosamine (GalNAc), or N-acetylglucosamine (GlcNAc) residues within proteoglycans, and sulfation of O-linked sugars of mucin-type acceptors. Carbohydrate sulfation plays a critical role in many biologic processes. This gene is predominantly expressed in colon and small intestine. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 653, "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": "B2RV23;Q7LCN3;Q9UBY3", "ec_number_list": "2.8.2.17;2.8.2.21;2.8.2.-", "go_molecular_function": "GO:0001517 N-acetylglucosamine 6-O-sulfotransferase activity;GO:0008146 sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0005975 carbohydrate metabolic process;GO:0006790 sulfur compound metabolic process;GO:0018146 keratan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9GZS9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9GZX3-1", "uniprot_id": "CHST6_HUMAN", "mass": 44099.0, "length": 395, "protein_name": "Carbohydrate sulfotransferase 6", "gene_name": "CHST6", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 6", "refseq_ac": "NP_067628", "gene_names_uniprotkb": "CHST6", "gene_names_refseq": "C-GlcNAc6ST; CHST6; GST4-beta; MCDC1; glcNAc6ST-5; gn6st-5; hCGn6ST", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 6; 2.8.2.21; C-GlcNAc6ST; Corneal N-acetylglucosamine-6-O-sulfotransferase; GST4-beta; Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta; GlcNAc6ST-5; Gn6st-5; N-acetylglucosamine 6-O-sulfotransferase 5; hCGn6ST", "protein_names_refseq": "N-acetylglucosamine 6-O-sulfotransferase 5; carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6; carbohydrate sulfotransferase 6; corneal N-acetylglucosamine 6-sulfotransferase; corneal N-acetylglucosamine-6-O-sulfotransferase; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta", "tax_id": 9606, "disease": "macular corneal dystrophy (Disease Ontology:DOID:2565)", "pathway": " (hsa:4166); (R-HSA-2022854); (R-HSA-3656225)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10206952;10491328;10504389;11017086;11030741;11042166;11042394;11139648;11181564;11278593;11283017;11352640;11588157;11818380;11821425;11901181;12218059;12824236;12882769;12882775;12883341;14609920;14735064;14984470;15013869;15486459;15560372;15620693;15652851;17021253;1714903;17690104;19365571;21242781;24311932;26604660;30716718;31844290;32350084;32472422;34645431;34826417;35627129;37217939;38034954;8333853;8611500;8920913;9405439;9417100;9597550", "class_list": "glycogene", "function": "Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6., [RefSeq, PubMed]; CHST6 mutations identified in Iranian MCD patients and CHST6 mutations reported worldwide identify targets for gene editing approaches including the CRISPR/Cas system., [RefSeq, PubMed]; Macular corneal dystrophy related to novel mutations of CHST6 in a Chinese family and clinical observation after penetrating keratoplasty. Publication Status: Online-Only, [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan (PubMed:11278593, PubMed:11352640, PubMed:12218059, PubMed:17690104). Cooperates with B4GALT4 galactosyltransferase and B3GNT7 N-acetylglucosaminyltransferase to construct and elongate the sulfated disaccharide unit [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved in biosynthesis of keratan sulfate in cornea, with an impact on proteoglycan fibril organization and corneal transparency (PubMed:11278593, PubMed:12218059, PubMed:17690104). Involved in sulfation of endothelial mucins such as GLYCAM1 (PubMed:11352640)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The Role of Functional Polymorphisms in the Extracellular Matrix Modulation-Related Genes on Dupuytren's Contracture. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]., [RefSeq]; Vast majority of variants likely to be protein-damaging, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 701, "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": "D3DUK3", "ec_number_list": "2.8.2.17;2.8.2.21;2.8.2.-", "go_molecular_function": "GO:0001517 N-acetylglucosamine 6-O-sulfotransferase activity;GO:0045130 keratan sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0005975 carbohydrate metabolic process;GO:0006790 sulfur compound metabolic process;GO:0018146 keratan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9GZX3-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9H6K1-1", "uniprot_id": "ILRUN_HUMAN", "mass": 32872.0, "length": 298, "protein_name": "Protein ILRUN", "gene_name": "ILRUN", "organism": "Human", "refseq_name": "protein ILRUN isoform b", "refseq_ac": "NP_073595", "gene_names_uniprotkb": "ILRUN; C6orf106", "gene_names_refseq": "C6orf106; FP852; ILRUN; dJ391O22.4", "protein_names_uniprotkb": "Protein ILRUN; Inflammation and lipid regulator with UBA-like and NBR1-like domains protein", "protein_names_refseq": "inflammation and lipid regulator with UBA-like and NBR1-like domains protein; protein ILRUN isoform b; protein ILRUN; uncharacterized protein C6orf106", "tax_id": 9606, "disease": "", "pathway": " (hsa:64771)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;17322306;18003597;18669648;18767875;18793612;19059477;19413330;19651622;19664994;19690332;20068231;21406692;22424782;23186163;23481700;24714562;24715725;25736925;26154972;26375851;26992070;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29485866;29508533;29557506;29632711;29786170;29802199;30311108;30315122;30677029;31154438;31373491;31492838;31530632;31844290;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33392160;33592498;33717175;33936100;33963054;33968037;34087483;34171305;34509645;35051231;35318648;35561310;35580925;36010968;36241641", "class_list": "", "function": "C6orf106 facilitates invasion and proliferation of pancreatic cancer cells, likely via activating ERK-P90RSK signaling pathway., [RefSeq, PubMed]; DSCR2 was found to interact with PPARbeta and to inhibit it., [RefSeq, PubMed]; Ethanol, but not acetaldehyde, inhibited PPAR-beta transactivation., [RefSeq, PubMed]; ILRUN Downregulates ACE2 Expression and Blocks Infection of Human Cells by SARS-CoV-2., [RefSeq, PubMed]; Negative regulator of innate antiviral response. Blocks IRF3-dependent cytokine production such as IFNA, IFNB and TNF (PubMed:29802199). Interacts with IRF3 and inhibits IRF3 recruitment to type I IFN promoter sequences while also reducing nuclear levels of the coactivators EP300 and CREBBP (PubMed:29802199)., [UniProtKB, PubMed]; This gene encodes a protein with N-terminal ubiquitin-associated (UBA)-like and central neighbor of BRCA1 gene 1 (NBR1)-like domains. The protein acts an inhibitor of antiviral and proinflammatory cytokine transcription and as a regulator of the renin-angiotensin-aldosterone system (RAAS). [provided by RefSeq, Jul 2021]., [RefSeq]; Up-regulated expression by repetitive low-grade oxidative stress through p38MAPK or NF-kappaB pathways, [RefSeq, PubMed]; We detected a novel obesity and BMI-associated locus at PKHD1 and novel variants driving associations at previously established signals (e.g. rs205262 at the SNRPC/C6orf106 locus and rs112446794 at the PRDM6-CEP120 locus). Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R8K7;Q5VV77;Q96MG5;Q9BUR9", "ec_number_list": "", "go_molecular_function": "GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0000407 phagophore assembly site", "go_biological_process": "GO:0045087 innate immune response;GO:1900181 negative regulation of protein localization to nucleus;GO:0016236 macroautophagy;GO:0032720 negative regulation of tumor necrosis factor production;GO:0050687 negative regulation of defense response to virus", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9H6K1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NSE2-1", "uniprot_id": "CISH_HUMAN", "mass": 28663.0, "length": 258, "protein_name": "Cytokine-inducible SH2-containing protein", "gene_name": "CISH", "organism": "Human", "refseq_name": "cytokine-inducible SH2-containing protein isoform 1", "refseq_ac": "NP_037456", "gene_names_uniprotkb": "CISH; G18", "gene_names_refseq": "BACTS2; CIS-1; CISH; CIS; G18; SOCS", "protein_names_uniprotkb": "Cytokine-inducible SH2-containing protein; CIS-1; CIS; Protein G18; SOCS; Suppressor of cytokine signaling", "protein_names_refseq": "cytokine-inducible SH2-containing protein isoform 1; cytokine-inducible inhibitor of signaling type 1B; suppressor of cytokine signaling", "tax_id": 9606, "disease": "malaria (Disease Ontology:DOID:12365); tuberculosis (Disease Ontology:DOID:399); Mycobacterium tuberculosis, susceptibility (MONDO:MONDO:0000070); bacteremia, susceptibility to, 2 (MONDO:MONDO:0013724); malaria, susceptibility to (MONDO:MONDO:0021024)", "pathway": " (hsa:1154); (R-HSA-1266695); (R-HSA-8951664); (R-HSA-982772)", "pathway_count": 4, "publication_count": 178, "publication_id_list": "10535940;10597293;10811609;10878807;10902923;10973499;11032736;11069780;11259415;11292861;11292862;11418668;11454738;11564764;11585840;11728342;11733065;11961546;12101228;12184921;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;12889071;12907755;14593182;14690597;14757770;15282312;15353558;15361859;15367669;1549776;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15749844;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18488018;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;1948064;19617556;19748355;19864382;19927328;20484391;21105711;21447816;21463634;21778237;21863050;21940857;22306028;22464331;22466964;22537386;22959436;2317865;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24417533;24636985;24793695;24793696;25314029;25349211;25355947;25505266;25531226;26154972;26301565;26344709;26460955;26632597;26906416;26974155;27030794;27222660;27423467;27565346;28115426;28228285;2825030;28832583;28904123;29139090;29153394;29242379;29493099;29557506;30315122;30429286;30610225;31154438;31844290;31918398;32005965;32157095;32161166;32284348;32387766;32502341;32961483;32983136;33444648;3349036;34072601;34509645;35051231;35580925;36010968;37118554;37563692;7489741;7514277;7691587;7719938;8128231;8188682;8266077;8343952;8702919;8709637;9030599;9058373;9233603;9398404;9465889;9553136;9715265;9774439;9790970;9887101;9891082", "class_list": "", "function": "CIS deletion by CRISPR/Cas9 enhances human primary natural killer cell functions against allogeneic glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; CISH impairs lysosomal function in activated T cells resulting in mitochondrial DNA release and inflammaging., [RefSeq, PubMed]; Genetic Predisposition to the Mortality in Septic Shock Patients: From GWAS to the Identification of a Regulatory Variant Modulating the Activity of a CISH Enhancer. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-944/CISH mediated inflammation via STAT3 is involved in oral cancer malignance by cigarette smoking., [RefSeq, PubMed]; SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction. CIS is involved in the negative regulation of cytokines that signal through the JAK-STAT5 pathway such as erythropoietin, prolactin and interleukin 3 (IL3) receptor. Inhibits STAT5 trans-activation by suppressing its tyrosine phosphorylation. May be a substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity)., [UniProtKB]; The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R9N1;G5E9R1;Q9NS38;Q9Y5R1", "ec_number_list": "", "go_molecular_function": "GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0001558 regulation of cell growth;GO:0016567 protein ubiquitination;GO:0019221 cytokine-mediated signaling pathway;GO:0046426 negative regulation of receptor signaling pathway via JAK-STAT", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "Q9NSE2-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9P2B7-1", "uniprot_id": "CFA97_HUMAN", "mass": 59475.0, "length": 532, "protein_name": "Cilia- and flagella-associated protein 97", "gene_name": "CFAP97", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 97 isoform 2", "refseq_ac": "NP_001278962", "gene_names_uniprotkb": "CFAP97; KIAA1430", "gene_names_refseq": "CFAP97; KIAA1430; hmw", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 97", "protein_names_refseq": "cilia- and flagella-associated protein 97 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57587)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18446792;18669648;20068231;21406692;23186163;24714562;25576301;26154972;26728094;26811146;26992070;27600516;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34171305;34405274;34509645;34561969;35051231;35580925;36284347;37938771", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KRP7;D3DP60;Q05CU1;Q4W5M4;Q8N6E7;Q9UF45", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9P2B7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UEE9-1", "uniprot_id": "CFDP1_HUMAN", "mass": 33593.0, "length": 299, "protein_name": "Heterochromatin-stabilizing protein CFDP1", "gene_name": "CFDP1", "organism": "Human", "refseq_name": "heterochromatin-stabilizing protein CFDP1", "refseq_ac": "NP_006315", "gene_names_uniprotkb": "CFDP1; BCNT; CENP-29", "gene_names_refseq": "BCNT; BUCENTAUR; CENP-29; CFDP1; CP27; SWC5; Yeti; p97", "protein_names_uniprotkb": "Heterochromatin-stabilizing protein CFDP1; Bucentaur; Craniofacial development protein 1", "protein_names_refseq": "centromere protein 29; chromatin stabilizing protein CFDP1; craniofacial development protein 1; heterochromatin-stabilizing protein CFDP1; phosphoprotein (Bucentaur)", "tax_id": 9606, "disease": "", "pathway": " (hsa:10428)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1074/mcp.M114.046862;10350657;11237011;11831036;18452278;18669648;20068231;20813266;23186163;24129315;25576301;25813380;26154972;26182435;26811146;26992070;27151176;27846572;27920218;28218747;28367969;28904123;29242379;29393594;29493099;29557506;30315122;30410026;30429286;30779550;31154438;31217245;31530632;31616018;31844290;31848261;31998317;32157095;32488085;32938616;32983136;33392160;33592498;33717175;33912179;33968037;34087483;34561969;35251023;35580925;35861040;36425957;9006920;9602175", "class_list": "", "function": "Bcnt/Cfdp1 is acetylated in vitro by CREB-binding protein (CBP) and four lysine residues including Lys(268) in BCNT-C are also acetylated in vivo, revealing a protein regulated at multiple levels. Publication Status: Online-Only, [RefSeq, PubMed]; CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity. Publication Status: Online-Only, [RefSeq, PubMed]; CFDP1 promotes hepatocellular carcinoma progression through activating NEDD4/PTEN/PI3K/AKT signaling pathway., [RefSeq, PubMed]; Includes the region derived from a long interspersed nucleotide Review article, [RefSeq, PubMed]; Our findings provide new insight into the chromatin functions and mechanisms of the CFDP1 protein and contribute to our understanding of the link between epigenetic regulation and the onset of human complex developmental disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Overall, these findings highlight unanticipated evidences suggesting that homodimerization mediated by the BCNT domain is integral to the chromatin functions of BCNT proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the structural stability of pericentromeric heterochromatin (PubMed:28367969). Regulates heterochromatin state by stabilizing CBX5/HP1alpha and H3K9me3 at major satellites and CENPA at minor satellites and is required for incorporation of histone H2AZ1/H2AZ into chromatin (By similarity). Maintenance of chromatin structure promotes binding of guanine-nucleotide releasing factor RCC1 to minor and major satellite repeats (By similarity). Chromatin-bound RCC1 maintains high levels of GTP-bound RAN near the centromeric heterochromatin, facilitating RAN-mediated microtubule nucleation during mitosis (By similarity). Plays a role in craniofacial development (By similarity). Required to maintain normal cell function in embryonic development (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "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": "O00393;O00404;Q9UEF0;Q9UEF1;Q9UEF8", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0000776 kinetochore;GO:0000812 Swr1 complex", "go_biological_process": "GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9UEE9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9UHD1-1", "uniprot_id": "CHRD1_HUMAN", "mass": 37490.0, "length": 332, "protein_name": "Cysteine and histidine-rich domain-containing protein 1", "gene_name": "CHORDC1", "organism": "Human", "refseq_name": "cysteine and histidine-rich domain-containing protein 1 isoform b", "refseq_ac": "NP_001137545", "gene_names_uniprotkb": "CHORDC1; CHP1", "gene_names_refseq": "CHORDC1; CHP1", "protein_names_uniprotkb": "Cysteine and histidine-rich domain-containing protein 1; CHORD domain-containing protein 1; CHORD-containing protein 1; CHP-1; Protein morgana", "protein_names_refseq": "CHORD-containing protein 1; CHP-1; chord domain-containing protein 1; cysteine and histidine-rich domain (CHORD) containing 1; cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1; cysteine and histidine-rich domain-containing protein 1 isoform b; cysteine and histidine-rich domain-containing protein 1; protein morgana", "tax_id": 9606, "disease": "chronic myeloid leukemia (Disease Ontology:DOID:8552)", "pathway": " (hsa:26973)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "10571178;11237011;18669648;19413330;19875381;20068231;20230755;23481700;25576301;25802875;26154972;26375851;26992070;27846572;27920218;28063628;28218747;28228285;28467828;28510447;28832583;28834231;28904123;29158506;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29789417;30315122;30429286;30524438;30573663;30779550;31154438;31530632;31844290;31998317;32053105;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33537174;33592498;33717175;33912179;33968037;33981976;34019948;34185709;34229054;34357683;34509645;34932366;35051231;35138101;35318648;35580925;36010968;36241641;37217939;38665916;38953578;38956394", "class_list": "", "function": "A novel ADP-dependent HSP90 interaction with the cysteine- and histidine-rich domain (CHORD)-containing protein CHORDC1, is characterized., [RefSeq, PubMed]; CHORDC1, the novel interacting partner of tau protein., [RefSeq, PubMed]; MiR-15a targets the HSP90 co-chaperone Morgana in chronic myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; NF-kappaB activation in breast cancer cells depends on the presence of the CHORDC1 gene product Morgana. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2 (PubMed:20230755). Proposed to act as co-chaperone for HSP90 (PubMed:20230755). May play a role in the regulation of NOD1 via a HSP90 chaperone complex (PubMed:20230755). In vitro, has intrinsic chaperone activity (PubMed:20230755). This function may be achieved by inhibiting association of ROCK2 with NPM1 (PubMed:20230755). Plays a role in ensuring the localization of the tyrosine kinase receptor EGFR to the plasma membrane, and thus ensures the subsequent regulation of EGFR activity and EGF-induced actin cytoskeleton remodeling (PubMed:32053105). Involved in stress response (PubMed:20230755). Prevents tumorigenesis (PubMed:20230755)., [UniProtKB, PubMed, PubMed]; Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2. Proposed to act as co-chaperone for HSP90. May play a role in the regulation of NOD1 via a HSP90 chaperone complex. In vitro, has intrinsic chaperone activity. This function may be achieved by inhibiting association of ROCK2 with NPM1. Plays a role in ensuring the localization of the tyrosine kinase receptor EGFR to the plasma membrane, and thus ensures the subsequent regulation of EGFR activity and EGF-induced actin cytoskeleton remodeling. Involved in stress response. Prevents tumorigenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This paper described the cloning of a barley CHORD containing protein, but it also described the CHORD containing proteins in other species including human and characterized the CHORD domains., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6P8;Q6IN49;Q8WVL9;Q9H3D6", "ec_number_list": "", "go_molecular_function": "GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0043531 ADP binding;GO:0051879 Hsp90 protein binding;GO:0046872 metal ion binding", "go_cellular_component": "", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:1900034 regulation of cellular response to heat;GO:0006457 protein folding;GO:0051298 centrosome duplication", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9UHD1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y4M8-1", "uniprot_id": "CH071_HUMAN", "mass": 16018.0, "length": 146, "protein_name": "Putative uncharacterized protein encoded by LINC00588", "gene_name": "LINC00588", "organism": "Human", "refseq_name": "", "refseq_ac": "", "gene_names_uniprotkb": "LINC00588; C8orf71", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00588", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11230166", "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": "Q9Y4M8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P61764-1", "uniprot_id": "STXB1_HUMAN", "mass": 67569.0, "length": 594, "protein_name": "Syntaxin-binding protein 1", "gene_name": "STXBP1", "organism": "Human", "refseq_name": "syntaxin-binding protein 1 isoform b", "refseq_ac": "NP_001027392", "gene_names_uniprotkb": "STXBP1; UNC18A", "gene_names_refseq": "DEE4; MUNC18-1; N-Sec1; NSEC1; P67; RBSEC1; STXBP1; UNC18; unc-18A; unc18-1", "protein_names_uniprotkb": "Syntaxin-binding protein 1; MUNC18-1; N-Sec1; Protein unc-18 homolog 1; Protein unc-18 homolog A; Unc-18A; Unc18-1; p67", "protein_names_refseq": "neuronal SEC1; protein unc-18 homolog 1; protein unc-18 homolog A; syntaxin-binding protein 1 isoform b", "tax_id": 9606, "disease": "West syndrome (Disease Ontology:DOID:0050562); early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709); developmental and epileptic encephalopathy 4 (Disease Ontology:DOID:0080436); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:6812); (R-HSA-422356); (R-HSA-6794361)", "pathway_count": 3, "publication_count": 178, "publication_id_list": "10194514;10206966;10342826;10424882;10526167;10773014;10866047;10868950;11078440;11078469;11237011;11264248;11577798;11604393;11716850;11780755;11815450;11815460;11815462;11815463;11873862;12196472;12403834;12475777;12519779;12684222;12730201;12764427;12887316;12950453;1309948;13459201;14514350;15000528;15305887;15489225;15504896;15540461;15572341;15585596;15678092;16242404;16332676;16443778;16513675;16556766;16624946;16714477;16846852;16868246;17021801;17259518;17380317;17660294;17897391;17900700;17919183;18162464;18346985;18469812;18596924;18669648;18812509;18829961;19587354;20064387;20064388;20086079;20519524;20887364;21282647;21770924;22765017;23662938;23708187;23992284;24170257;24366607;24623842;24715725;25378172;25576301;25714420;25818041;25892735;26154972;26517901;26758079;26992070;26993267;27597756;27600516;27846572;27864847;27920218;28228285;28832583;28855257;28904123;29108130;29242379;29557506;29632711;29769354;30315122;30379171;30410026;30484775;30524438;30779550;30833945;31067468;31154438;31217245;31222486;31530632;31844290;31848261;31937595;32081899;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33968037;33981976;34087483;34171305;34357683;34509645;35051231;3517644;35251023;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38484778;38490366;38665916;3923453;39456768;40596516;6019353;6424440;6435940;7589840;7593639;7641683;7695896;7736595;7929812;8027028;8457197;8576240;8675920;8824310;8987985;8997178;9069287;9350615;9545644;9726229;9739505;9751501;9808458;9914469;9927700", "class_list": "", "function": "A De Novo Splicing Mutation of STXBP1 in Epileptic Encephalopathy Associated with Hypomyelinating Leukodystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; Describes cloning of mouse and human homologs of C. elegans UNC-18., [RefSeq, PubMed]; Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. Involved in the release of neurotransmitters from neurons through interacting with SNARE complex component STX1A and mediating the assembly of the SNARE complex at synaptic membranes (By similarity). May play a role in determining the specificity of intracellular fusion reactions., [UniProtKB, UniProtKB, UniProtKB]; Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction., [RefSeq, PubMed]; Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F., [RefSeq, PubMed]; This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "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": "B1AM97;Q28208;Q62759;Q64320;Q68CM6;Q96TG8", "ec_number_list": "", "go_molecular_function": "GO:0003723 RNA binding;GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0019905 syntaxin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098831 presynaptic active zone cytoplasmic component;GO:0098888 extrinsic component of presynaptic membrane;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0003006 developmental process involved in reproduction;GO:0061670 evoked neurotransmitter secretion;GO:0035542 regulation of SNARE complex assembly;GO:0106022 positive regulation of vesicle docking;GO:1903296 positive regulation of glutamate secretion, neurotransmission", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "P61764-1", "record_type": "protein" }, { "uniprot_canonical_ac": "A8MT69-1", "uniprot_id": "CENPX_HUMAN", "mass": 8959.0, "length": 81, "protein_name": "Centromere protein X", "gene_name": "CENPX", "organism": "Human", "refseq_name": "centromere protein X isoform 1", "refseq_ac": "NP_001257935", "gene_names_uniprotkb": "CENPX; FAAP10; MHF2; STRA13", "gene_names_refseq": "CENP-X; CENPX; D9; FAAP10; MHF2; STRA13", "protein_names_uniprotkb": "Centromere protein X; CENP-X; FANCM-associated histone fold protein 2; FANCM-interacting histone fold protein 2; Fanconi anemia-associated polypeptide of 10 kDa; Retinoic acid-inducible gene D9 protein homolog; Stimulated by retinoic acid gene 13 protein homolog", "protein_names_refseq": "FANCM associated histone fold protein 2; FANCM-interacting histone fold protein 2; Fanconi anemia-associated polypeptide of 10 kDa; centromere protein X isoform 1; retinoic acid-inducible gene D9 protein homolog; stimulated by retinoic acid 13 homolog; stimulated by retinoic acid gene 13 protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:201254); (R-HSA-606279); (R-HSA-6783310); (R-HSA-9833482)", "pathway_count": 4, "publication_count": 211, "publication_id_list": "10082513;10348343;10400669;10620360;10626894;10648614;10848580;10866685;11096080;11134010;11152499;11156368;11237011;11238103;11238927;11239454;11278865;11313968;11337501;11350938;11438540;11500375;11781817;11909525;11939789;11985496;12231563;12397061;12882984;1373135;14585331;15229216;15299030;15369671;15572677;15737233;15752359;15907845;16179258;16179259;16373505;16431927;16600570;16622420;16717090;16916645;16943440;1695551;16982605;17079286;17196820;17199038;17289582;17339379;17412408;17460694;17938197;18082604;18096616;18174376;18835251;18931676;18957415;19111657;19229320;19398759;19410544;19410545;19416861;19561358;19589784;19596236;19620631;19710021;19733181;19804757;19838063;19995904;20080577;20102227;20347428;20347429;20385554;20395957;20519500;20566683;20603015;20603016;20603073;20670894;20671156;20685959;21072047;21123651;21294215;21464321;21518807;21636578;21701511;21764741;21768289;21937648;21978664;21994559;22214662;22258451;22287633;22304917;22396592;2247437;22510687;22692201;22986343;23084476;23229543;23325218;23698467;23723247;23732991;24076221;24347309;24389026;24522885;24623135;24623813;24659800;24699063;24726325;24753571;24905007;25418920;25430771;25500724;25653431;25848059;26432638;26446704;26488609;26716879;26811146;26817845;26992070;27208315;27269119;27423063;27920218;27974558;28069888;28167698;28218747;28228285;28281686;28765891;29170442;29175459;29231267;29348664;29393594;29394925;29395325;29437277;29440070;29485866;29493099;29501855;30174290;30315122;30410026;30770398;31031002;31217245;31844290;32093270;32387766;32716602;32801355;33633747;33808629;33911136;34171305;34174402;34974812;35051231;35685460;35947956;36010968;36241641;36712380;37127961;7491766;7515177;7545299;7565688;7693978;7737357;7903669;8576172;8576179;8661426;8810342;8839844;8910500;9034343;9079663;9442054;9521856;9528799;9687506;9737981;9819388;9920933", "class_list": "", "function": "DNA-binding component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:20347428, PubMed:20347429). In complex with CENPS (MHF heterodimer), crucial cofactor for FANCM in both binding and ATP-dependent remodeling of DNA. Stabilizes FANCM. In complex with CENPS and FANCM (but not other FANC proteins), rapidly recruited to blocked forks and promotes gene conversion at blocked replication forks (PubMed:20347428, PubMed:20347429). In complex with CENPS, CENPT and CENPW (CENP-T-W-S-X heterotetramer), involved in the formation of a functional kinetochore outer plate, which is essential for kinetochore-microtubule attachment and faithful mitotic progression (PubMed:19620631). As a component of MHF and CENP-T-W-S-X complexes, binds DNA and bends it to form a nucleosome-like structure (PubMed:20347428, PubMed:20347429). DNA-binding function is fulfilled in the presence of CENPS, with the following preference for DNA substates: Holliday junction > double-stranded > splay arm > single-stranded. Does not bind DNA on its own (PubMed:20347429)., [UniProtKB, PubMed, PubMed, PubMed]; Identification of human and mouse homologs of clone D9 of a murine promyelocyte cell line that was upregulated by retinoic acid., [RefSeq, PubMed]; Provide biochemical evidence that MHF1 and MHF2 assemble into a heterodimer that binds DNA and enhances the DNA branch migration activity of FANCM., [RefSeq, PubMed]; Results identified a centromere protein S (CENP-S)-containing subcomplex that includes the new constitutive kinetochore protein CENP-X [Stra13], [RefSeq, PubMed]; The MHF complex, which is a heterotetramer that comprises two MHF1-MHF2 heterodimers, is remodeled by FANCM to favor recognition of branched DNA over dsDNA., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "O00281;O00282;Q96DD4;Q96F51", "ec_number_list": "", "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0043240 Fanconi anaemia nuclear complex;GO:0071821 FANCM-MHF complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:0051382 kinetochore assembly;GO:0007059 chromosome segregation;GO:0051301 cell division;GO:0031398 positive regulation of protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "A8MT69-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O75223-1", "uniprot_id": "GGCT_HUMAN", "mass": 21008.0, "length": 188, "protein_name": "Gamma-glutamylcyclotransferase", "gene_name": "GGCT", "organism": "Human", "refseq_name": "gamma-glutamylcyclotransferase isoform 2", "refseq_ac": "NP_001186744", "gene_names_uniprotkb": "GGCT; C7orf24; CRF21", "gene_names_refseq": "C7orf24; CRF21; GCTG; GGCT; GGC", "protein_names_uniprotkb": "Gamma-glutamylcyclotransferase; 4.3.2.9; Cytochrome c-releasing factor 21", "protein_names_refseq": "cytochrome c-releasing factor 21; gamma -glutamyl cyclotransferase; gamma-glutamylcyclotransferase isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79017); (R-HSA-174403)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10369661;11237011;12473676;16765912;17924658;17932939;18357469;18515354;19109178;19463;21712391;23301498;23682772;2573352;25931127;26374642;26375851;26992070;28832583;29242379;29314611;29557506;30315122;30397120;31020640;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32938616;33298915;33592498;33912179;33968037;34121038;34171305;34357683;34794221;35154160;35213720;35580925;36233293;38665916;7646467;7826375;8813074;9080;9516961;9675072", "class_list": "", "function": "CRF21 might play an important role in the induction of apoptosis by GGO in leukemia U937 cells., [RefSeq, PubMed]; Catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides and may play a significant role in glutathione homeostasis (PubMed:18515354). Induces release of cytochrome c from mitochondria with resultant induction of apoptosis (PubMed:16765912)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Interaction of MRPL9 and GGCT Promotes Cell Proliferation and Migration by Activating the MAPK/ERK Pathway in Papillary Thyroid Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-205-5p/GGCT Attenuates Growth and Metastasis of Papillary Thyroid Cancer by Regulating CD44., [RefSeq, PubMed]; MiR-877 inhibits the proliferation, migration, and invasion of osteosarcoma cells by targeting gamma-glutamylcyclotransferase., [RefSeq, PubMed]; Presence of extra electron density/ligands and conservation at the sequence and structure levels, it is likely that the cavity has a crucial role in the function of LOC79017 and its structural neighbors possibly as an active site or ligand-binding site, [RefSeq, PubMed]; The GGCT gene is located on chromosome 7p14-15 and consists of four exons that span 8 kb, the primary sequence is 188 amino acids in length and is unlike any protein of known function Erratum:[J Biol Chem. 2008 Nov 14;283(46):32152], [RefSeq, PubMed]; The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]; [The expression of GGCT in the bladder urothelial cell carcinoma and its clinical significance]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 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": "B2RDN0;B8ZZN4;B8ZZR8;Q9BS37", "ec_number_list": "4.3.2.9", "go_molecular_function": "GO:0003839 gamma-glutamylcyclotransferase activity;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001836 release of cytochrome c from mitochondria", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "O75223-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q5VTD9-1", "uniprot_id": "GFI1B_HUMAN", "mass": 37492.0, "length": 330, "protein_name": "Zinc finger protein Gfi-1b", "gene_name": "GFI1B", "organism": "Human", "refseq_name": "zinc finger protein Gfi-1b isoform 2", "refseq_ac": "NP_001128503", "gene_names_uniprotkb": "GFI1B", "gene_names_refseq": "BDPLT17; GFI1B; ZNF163B", "protein_names_uniprotkb": "Zinc finger protein Gfi-1b; Growth factor independent protein 1B; Potential regulator of CDKN1A translocated in CML", "protein_names_refseq": "growth factor independent 1B (potential regulator of CDKN1A, translocated in CML); growth factor independent 1B transcription repressor; zinc finger protein Gfi-1b isoform 2; zinc finger protein Gfi-1b", "tax_id": 9606, "disease": "myeloid neoplasm (Disease Ontology:DOID:0070004); gray platelet syndrome (Disease Ontology:DOID:0111044); platelet-type bleeding disorder 17 (Disease Ontology:DOID:0111049); aplastic anemia (Disease Ontology:DOID:12449); alcohol use disorder (Disease Ontology:DOID:1574); acute megakaryocytic leukemia (Disease Ontology:DOID:8761); acute myeloid leukemia (Disease Ontology:DOID:9119); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:8328)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;12351384;12874834;15280509;16177182;16688220;16782810;16959974;17081983;17156408;17272506;17420275;17646546;22399799;23927492;24325358;25548167;27862975;28832583;29393594;29557506;29632046;30429286;30524438;31154438;32387766;35031421;35804097;37680034;37938771;38103735;38548886;9878267", "class_list": "", "function": "A mutation in GFI1B causes a platelet disorder; GFI1B has a role a critical regulator of platelet shape, number, and function, [RefSeq, PubMed]; Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia., [RefSeq, PubMed]; Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways. Cooperates with GATA1 to repress target gene transcription, such as the apoptosis regulator BCL2L1; GFI1B silencing in leukemic cell lines markedly increase apoptosis rate. Inhibits down-regulation of MYC and MYB as well as the cyclin-dependent kinase inhibitor CDKN1A/P21WAF1 in IL6-treated myelomonocytic cells. Represses expression of GATA3 in T-cell lymphomas and inhibits GATA1-mediated transcription; as GATA1 also mediates erythroid GFI1B transcription, both GATA1 and GFI1B participate in a feedback regulatory pathway controlling the expression of GFI1B gene in erythroid cells. Suppresses GATA1-mediated stimulation of GFI1B promoter through protein interaction. Binds to gamma-satellite DNA and to its own promoter, auto-repressing its own expression. Alters histone methylation by recruiting histone methyltransferase to target genes promoters. Plays a role in heterochromatin formation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Fuchs Endothelial Corneal Dystrophy associated risk variant, rs3768617 in LAMC1 shows allele specific binding of GFI1B., [RefSeq, PubMed]; GFI1B acts as a metabolic regulator in hematopoiesis and acute myeloid leukemia., [RefSeq, PubMed]; GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue., [RefSeq, PubMed]; This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]., [RefSeq]; This zinc finger protein mediates erythroid expansion and has a role in normal erythropoiesis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95270;Q5VTD8;Q6FHZ2;Q6T888", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016363 nuclear matrix;GO:0005667 transcription regulator complex", "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:0006325 chromatin organization;GO:2000134 negative regulation of G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q5VTD9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13309-1", "uniprot_id": "SKP2_HUMAN", "mass": 47761.0, "length": 424, "protein_name": "S-phase kinase-associated protein 2", "gene_name": "SKP2", "organism": "Human", "refseq_name": "S-phase kinase-associated protein 2 isoform 3", "refseq_ac": "NP_001230049", "gene_names_uniprotkb": "SKP2; FBXL1", "gene_names_refseq": "FBL1; FBXL1; FLB1; SKP2; p45", "protein_names_uniprotkb": "S-phase kinase-associated protein 2; Cyclin-A/CDK2-associated protein p45; F-box protein Skp2; F-box/LRR-repeat protein 1; p45skp2", "protein_names_refseq": "CDK2/cyclin A-associated protein p45; F-box/LRR-repeat protein 1; S-phase kinase-associated protein 2 isoform 3; S-phase kinase-associated protein 2, E3 ubiquitin protein ligase; p45skp2", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); endometrial hyperplasia (Disease Ontology:DOID:0080365); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); breast cancer (Disease Ontology:DOID:1612); transitional cell carcinoma (Disease Ontology:DOID:2671); renal cell carcinoma (Disease Ontology:DOID:4450); lung small cell carcinoma (Disease Ontology:DOID:5409); hepatocellular carcinoma (Disease Ontology:DOID:684); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991)", "pathway": " (hsa:6502); (R-HSA-174178); (R-HSA-187577); (R-HSA-5689880); (R-HSA-68949); (R-HSA-69231); (R-HSA-8939902); (R-HSA-8951664); (R-HSA-9687136); (R-HSA-9708530); (R-HSA-983168)", "pathway_count": 11, "publication_count": 380, "publication_id_list": "10.1101/2023.09.13.557529;10207050;10215629;10323868;10375532;10385618;10444327;10499802;10535940;10559916;10572046;10597293;10733526;10811609;10831586;10878807;10911365;10973499;10982817;11032757;11062501;11069780;11073976;11099048;11157749;11231573;11231585;11237011;11259415;11292861;11292862;11350924;11416152;11454738;11566882;11585840;11719808;11733065;11739726;11884610;11923872;11931757;11961546;12000792;12101228;12186903;12435635;12444543;12446569;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12738770;12759363;12769844;12816948;12840033;12917689;12917691;12923053;1423597;14517297;14597415;14661020;14690597;14734113;14757770;15014503;15053880;15199159;15224091;15224092;15282312;15342634;15361859;15367669;15469821;15537541;15571818;15572695;15574592;15579463;15601839;15652483;15668399;15678131;15688063;15694336;15703179;15799966;15855052;15916963;15949444;16103164;16115867;16171779;16195327;16209941;16214042;16262255;16401342;16413484;16421188;16547496;16581786;16595681;16647857;16707496;16728642;16782892;16790436;16849449;16880511;16901786;16943200;16951159;16954532;16964248;17081101;17081983;17092340;17132228;17183367;17187060;17220875;17254966;17254967;17290220;17322306;17332328;17443180;17497243;17785452;17786208;17873522;17908796;17908926;17962192;17980597;17981138;18093314;18172164;18206966;18220336;18239684;1828392;1828393;1828394;18414028;18452278;18467330;18541707;18632802;18636086;18662542;18669648;18691976;18710949;18719096;18775313;18776931;18805092;18826954;18827403;18851830;18926707;19015242;19028597;19075005;19135894;19188362;19250909;19270695;19321346;19352404;19363159;19398555;19424180;19452197;19458076;19487459;19489725;19549334;19617556;19651622;19748355;19838211;19851334;19874575;19874889;19897490;19910467;19940261;20068231;20096447;20107323;20160477;20160482;20228808;20368735;20501646;20663872;20663873;20843055;20952511;21119685;21239494;21362556;21406692;21423214;21447816;21463634;21571647;21596315;21659512;21715330;21778237;21849505;21863050;21931630;21940857;21962518;22029577;22085928;22128162;22216260;22306028;22422618;22464731;22466964;22537386;2261476;22770219;22959436;23007395;23159851;23186163;23201271;23333871;23395819;23401859;23403054;23453757;23481700;23486064;23535662;23535663;23563313;23583660;23622515;23737759;23807222;23824326;23825189;23912815;23943595;23986495;24035498;24056413;24076655;24260525;24366543;24366607;24493797;24515438;24636985;24714562;24715725;24793695;24793696;24876129;24896179;25197364;25260729;25271736;25305019;25314029;25349211;25355947;25418920;25531226;25576301;25578727;25733683;26091038;26154972;26344709;26460955;26632597;26636645;26728094;26778333;26906416;26929215;26992070;27030794;27194766;27222660;27565346;27600516;27920218;28115426;28228285;28446188;28832583;28834231;28904123;29153394;29242379;29393594;29493099;29557506;30315122;30413706;30610225;30711375;31154438;31530632;31543423;31844290;31852899;32005965;32157095;32161166;32267835;32284348;32502341;32938616;32989258;33444648;33592498;33691108;33717175;33793628;33841154;33912179;33936100;33968037;34171305;34932366;35051231;35561310;35580925;36215666;36241641;37938771;38396292;38561375;39064589;39116798;40596516;7553852;7578059;7797074;7954814;8114739;8139570;8246996;8336704;8497257;9042862;9106657;9144196;9190208;9325318;9380723;9447971;9448290;9508775;9544839;9668046;9736735;9790970;9858587;9887101;9891082", "class_list": "", "function": "Clinical potential of SKP2 as diagnostic marker and therapeutic target in small cell lung cancer., [RefSeq, PubMed]; Fatty Acid Synthase Promotes Hepatocellular Carcinoma Growth via S-Phase Kinase-Associated Protein 2/p27[KIP1] Regulation. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins involved in cell cycle progression, signal transduction and transcription (PubMed:9736735, PubMed:11931757, PubMed:12435635, PubMed:12769844, PubMed:12840033, PubMed:15342634, PubMed:15668399, PubMed:15949444, PubMed:16103164, PubMed:16262255, PubMed:16581786, PubMed:16951159, PubMed:17908926, PubMed:17962192, PubMed:22464731, PubMed:22770219, PubMed:32267835). Specifically recognizes phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition (By similarity). Degradation of CDKN1B/p27kip also requires CKS1 (By similarity). Recognizes target proteins ORC1, CDT1, RBL2, KMT2A/MLL1, CDK9, RAG2, NBN, FOXO1, UBP43, YTHDF2, and probably MYC, TOB1 and TAL1 (PubMed:11931757, PubMed:12435635, PubMed:12769844, PubMed:12840033, PubMed:15342634, PubMed:15668399, PubMed:15949444, PubMed:16103164, PubMed:16581786, PubMed:16951159, PubMed:17908926, PubMed:17962192, PubMed:22464731, PubMed:32267835). Degradation of TAL1 also requires STUB1 (PubMed:17962192). Recognizes CDKN1A in association with CCNE1 or CCNE2 and CDK2 (PubMed:9736735, PubMed:16262255). Promotes ubiquitination and destruction of CDH1 in a CK1-dependent manner, thereby regulating cell migration (PubMed:22770219). Following phosphorylation in response to DNA damage, mediates 'Lys-63'-linked ubiquitination of NBN, promoting ATM recruitment to DNA damage sites and DNA repair via homologous recombination (PubMed:22464731)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Targeting RCC1 to block the human soft-tissue sarcoma by disrupting nucleo-cytoplasmic trafficking of Skp2. Publication Status: Online-Only, [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; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]., [RefSeq]; Through the ubiquitin-mediated proteasomal degradation of hepatitis C virus non-structural protein 5A, has an antiviral activity towards that virus., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 10, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K5E0;B4DJT4;Q8TDZ0;Q8TDZ1;Q9BV69", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex;GO:0005634 nucleus", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000082 G1/S transition of mitotic cell cycle;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 38.5, "record_id": "Q13309-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q13464-1", "uniprot_id": "ROCK1_HUMAN", "mass": 158175.0, "length": 1354, "protein_name": "Rho-associated protein kinase 1", "gene_name": "ROCK1", "organism": "Human", "refseq_name": "rho-associated protein kinase 1", "refseq_ac": "NP_005397", "gene_names_uniprotkb": "ROCK1", "gene_names_refseq": "P160ROCK; ROCK-I; ROCK1", "protein_names_uniprotkb": "Rho-associated protein kinase 1; 2.7.11.39; ROCK-I; Renal carcinoma antigen NY-REN-35; Rho-associated, coiled-coil-containing protein kinase 1; Rho-associated, coiled-coil-containing protein kinase I; p160 ROCK-1; p160ROCK", "protein_names_refseq": "p160 ROCK-1; renal carcinoma antigen NY-REN-35; rho-associated protein kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6093); (R-HSA-111465); (R-HSA-3928662); (R-HSA-3928663); (R-HSA-416482); (R-HSA-416572); (R-HSA-4420097); (R-HSA-5627117); (R-HSA-6798695); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013407); (R-HSA-9013422); (R-HSA-9679191); (R-HSA-9696264)", "pathway_count": 16, "publication_count": 463, "publication_id_list": 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"class_list": "", "function": "Inhibition of the FOXO1-ROCK1 axis mitigates cardiomyocyte injury under chronic hypoxia in Tetralogy of Fallot by maintaining mitochondrial quality control., [RefSeq, PubMed]; LINC00645 inhibits renal cell carcinoma progression by interacting with HNRNPA2B1 to regulate the ROCK1 mRNA stability., [RefSeq, PubMed]; Paxillin participates in the sphingosylphosphorylcholine-induced abnormal contraction of vascular smooth muscle by regulating Rho-kinase activation. Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase which is a key regulator of the actin cytoskeleton and cell polarity (PubMed:10436159, PubMed:10652353, PubMed:11018042, PubMed:11283607, PubMed:17158456, PubMed:18573880, PubMed:19131646, PubMed:8617235, PubMed:9722579). Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2, MYL9/MLC2, TPPP, PFN1 and PPP1R12A (PubMed:10436159, PubMed:10652353, PubMed:11018042, PubMed:11283607, PubMed:17158456, PubMed:18573880, PubMed:19131646, PubMed:23093407, PubMed:23355470, PubMed:8617235, PubMed:9722579). Phosphorylates FHOD1 and acts synergistically with it to promote SRC-dependent non-apoptotic plasma membrane blebbing (PubMed:18694941). Phosphorylates JIP3 and regulates the recruitment of JNK to JIP3 upon UVB-induced stress (PubMed:19036714). Acts as a suppressor of inflammatory cell migration by regulating PTEN phosphorylation and stability (By similarity). Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation (PubMed:19181962). Required for centrosome positioning and centrosome-dependent exit from mitosis (By similarity). Plays a role in terminal erythroid differentiation (PubMed:21072057). Inhibits podocyte motility via regulation of actin cytoskeletal dynamics and phosphorylation of CFL1 (By similarity). Promotes keratinocyte terminal differentiation (PubMed:19997641). Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization (By similarity). May regulate closure of the eyelids and ventral body wall by inducing the assembly of actomyosin bundles (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ROCK1/2 signaling contributes to corticosteroid-refractory acute graft-versus-host disease. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM40 interacts with ROCK1 directly and inhibits colorectal cancer cell proliferation through the c-Myc/p21 axis., [RefSeq, PubMed]; This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 17, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 36, "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": "B0YJ91;Q2KHM4;Q59GZ4", "ec_number_list": "2.7.11.1;2.7.11.21;3.4.19.12;3.6.4.13;2.7.1.35;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.-;1.1.1.42;3.4.17.22;2.7.11.22;3.1.4.-;3.1.4.35;2.7.11.13;3.6.5.2;2.4.2.1;2.7.2.3;3.4.21.46;1.11.1.6;4.1.2.13;2.7.11.23;2.4.1.1;5.3.1.9;5.1.3.-;2.4.2.7;3.6.4.10;2.5.1.18;1.13.11.-;1.13.11.34;2.3.1.168;2.3.1.-;1.11.1.7;1.1.1.205;2.7.3.2;4.2.99.18;5.6.2.4;3.6.5.-;4.2.1.24;5.3.2.1;5.3.3.12;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;2.7.1.11;5.4.2.11;5.4.2.4;2.3.1.48;3.1.2.-;7.6.2.-;2.7.10.1;1.14.14.18;3.5.4.5;2.7.10.4;2.7.1.153;2.7.1.137;3.4.22.56;2.4.1.186;2.7.11.26;2.7.1.154;3.6.1.-;2.7.1.1;2.7.1.-;2.7.11.31;3.6.4.6;3.1.3.53;3.1.3.16;5.2.1.8;3.6.4.-;3.1.1.47;3.5.4.6;3.1.3.48;1.11.1.24;2.3.2.27;2.7.11.12;3.1.4.4;2.7.11.17;2.7.11.8;2.7.11.19;4.1.1.32;2.3.2.26;2.7.11.38;2.7.11.34;5.4.2.2;5.4.2.7;3.6.-.-;3.4.25.1;2.1.1.13;2.7.1.150;4.1.2.4", "go_molecular_function": "GO:0072518 Rho-dependent protein serine/threonine kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0048156 tau protein binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0051045 negative regulation of membrane protein ectodomain proteolysis;GO:0051893 regulation of focal adhesion assembly;GO:0071559 response to transforming growth factor beta;GO:1905205 positive regulation of connective tissue replacement;GO:0022614 membrane to membrane docking", "synthesized_glycan_count": 0, "hit_score": 46.8, "record_id": "Q13464-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9Y6M7-1", "uniprot_id": "S4A7_HUMAN", "mass": 136044.0, "length": 1214, "protein_name": "Sodium bicarbonate cotransporter 3", "gene_name": "SLC4A7", "organism": "Human", "refseq_name": "sodium bicarbonate cotransporter 3 isoform b", "refseq_ac": "NP_001245308", "gene_names_uniprotkb": "SLC4A7; BT; NBC2B; NBC2; NBC3; NBCn1; SBC2; SLC4A6", "gene_names_refseq": "NBC2; NBC3; NBCN1; SBC2; SLC4A6; SLC4A7", "protein_names_uniprotkb": "Sodium bicarbonate cotransporter 3; Bicarbonate transporter; Electroneutral Na/HCO(3) cotransporter; Sodium bicarbonate cotransporter 2b; Sodium bicarbonate cotransporter 2; Solute carrier family 4 member 7", "protein_names_refseq": "bicarbonate transporter; electroneutral Na/HCO(3) cotransporter; sodium bicarbonate cotransporter 2b; sodium bicarbonate cotransporter 2; sodium bicarbonate cotransporter 3 isoform b; sodium bicarbonate cotransporter 3; solute carrier family 4, sodium bicarbonate cotransporter, member 7", "tax_id": 9606, "disease": "Usher syndrome type 2C (Disease Ontology:DOID:0110839); anemia (Disease Ontology:DOID:2355)", "pathway": " (hsa:9497); (R-HSA-425381); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013409); (R-HSA-9035034)", "pathway_count": 7, "publication_count": 156, "publication_id_list": "10.1101/2023.09.13.557529;10347222;10362779;10490598;10545938;10967094;10978526;11185749;11237011;11305939;11368848;11784792;11788353;11809807;12242347;12403779;12444018;12456725;12577064;12773384;14578046;14736710;15144186;15304341;15546864;15710388;16301216;16777452;17028588;17064668;17081983;17214551;17765681;17916560;18220336;18319254;18578522;18669648;18767875;19258391;19349973;19448079;19651622;19690332;19713215;20068231;20166139;20184954;20233848;20851766;21119010;21406692;21454492;22665057;22971344;23029280;23087206;23096567;23186163;23255595;23481700;24102721;24190977;24297911;24355937;24472682;24715725;25502872;25576301;25645385;25668492;25678704;25746724;25892735;2594752;26299518;27278019;27481945;27852748;27920218;28228285;28467828;28486133;28510447;28514659;28832583;28904123;28947137;29242379;29314611;29393594;29510700;29557506;29632046;29769354;29776664;29779931;3015590;30484775;30524438;30573663;30779550;30833945;31844290;31848261;31871319;32157095;32302585;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34433824;34725712;34932366;35051231;35154160;35251023;35289036;35318648;35561310;35580925;35772404;36010968;36215666;36241641;37039101;37074911;37128157;37938771;38310186;7506871;7530501;7721814;7923606;8206915;8945468;9235899;9312167;9610397;9651366;9857026", "class_list": "", "function": "Antibodies toward Na[+],HCO3[-]-cotransporter NBCn1/SLC4A7 block net acid extrusion and cause pH-dependent growth inhibition and apoptosis in breast cancer., [RefSeq, PubMed]; Dynamic localization of the Na+-HCO3- co-transporter NBCn1 to the plasma membrane, centrosomes, spindle and primary cilia., [RefSeq, PubMed]; Electroneutral sodium- and bicarbonate-dependent cotransporter with a Na(+):HCO3(-) 1:1 stoichiometry (PubMed:10347222, PubMed:12403779, PubMed:14578046, PubMed:14736710). Mediates the sodium-dependent bicarbonate transport important for pH recovery after acid load as well as for regulation of steady-state pH in the duodenum and vascular smooth muscle cells (By similarity). Plays a key role in macrophage acidification, mediating bicarbonate import into the cytoplasm which is crucial for net acid extrusion and maintenance of cytoplasmic pH during phagocytosis (PubMed:29779931). Provides cellular bicarbonate for de novo purine and pyrimidine synthesis and is a key mediator of de novo nucleotide synthesis downstream of mTORC1 signaling in proliferating cells (PubMed:35772404)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Plays a key role in macrophage acidification, mediating bicarbonate import into the cytoplasm which is crucial for net acid extrusion and maintenance of cytoplasmic pH during phagocytosis., [UniProtKB, PubMed]; The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the bicarbonate salvage trransporter isoform 3, [RefSeq, PubMed]; This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]., [RefSeq]; Update on the relationship between the SLC4A7 variant rs4973768 and breast cancer risk: a systematic review and meta-analysis., [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": 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": 6, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 30, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 2, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6NIA8;B2CI53;B5M449;B5M451;B5M452;B5M453;B6DY52;B6DY53;C9JST9;D3K174;D3K175;O60350;Q6AHZ9;Q9HC88;Q9UIB9", "ec_number_list": "", "go_molecular_function": "GO:0008509 monoatomic anion transmembrane transporter activity;GO:0005452 solute:inorganic anion antiporter activity;GO:0008510 sodium:bicarbonate symporter activity;GO:0015106 bicarbonate transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0032420 stereocilium", "go_biological_process": "GO:0090383 phagosome acidification;GO:0055085 transmembrane transport;GO:0071363 cellular response to growth factor stimulus;GO:0015701 bicarbonate transport;GO:0051453 regulation of intracellular pH", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "Q9Y6M7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q15468-1", "uniprot_id": "STIL_HUMAN", "mass": 142955.0, "length": 1287, "protein_name": "SCL-interrupting locus protein", "gene_name": "STIL", "organism": "Human", "refseq_name": "SCL-interrupting locus protein isoform 4", "refseq_ac": "NP_001269867", "gene_names_uniprotkb": "STIL; SIL", "gene_names_refseq": "MCPH7; SIL; STIL", "protein_names_uniprotkb": "SCL-interrupting locus protein; TAL-1-interrupting locus protein", "protein_names_refseq": "SCL-interrupting locus protein isoform 4; SCL-interrupting locus protein; SCL/TAL1 interrupting locus; TAL-1-interrupting locus protein", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 7 (Disease Ontology:DOID:0070278); microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:6491)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;11390401;12438740;12531481;12681356;1311214;14504110;15107824;16024801;17924679;18669648;19215732;1922059;19690332;22020124;2209547;2255914;22989186;23186163;24366607;24714562;25342035;25385835;25505266;25701666;26101219;28904123;29445034;29712910;31672968;31844290;32107292;32157095;32357974;32387766;32502341;32897882;32938616;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35561310;36010968;36241641;36581221;37101292;37834064;9372240", "class_list": "", "function": "DHPLC techniques were used to screen for mutations and these studies identified several common polymorphisms but no disease-associated mutations, suggesting that SIL is not a common factor in holoprosencephaly pathogenesis in humans., [RefSeq, PubMed]; Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1 (PubMed:16024801, PubMed:9372240). Plays an important role in the regulation of centriole duplication. Required for the onset of procentriole formation and proper mitotic progression. During procentriole formation, is essential for the correct loading of SASS6 and CPAP to the base of the procentriole to initiate procentriole assembly (PubMed:22020124). In complex with STIL acts as a modulator of PLK4-driven cytoskeletal rearrangements and directional cell motility (PubMed:29712910, PubMed:32107292)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Isolation and characterization of a cloned promoter as well as its role in leukemogenesis, [RefSeq, PubMed]; Molecular Mechanism of STIL Coiled-Coil Domain Oligomerization. Publication Status: Online-Only, [RefSeq, PubMed]; Primary microcephaly is an autosomal-recessive congenital disorder characterized by smaller brain size and mental retardation, in which homozygote mutations in STIL proteins are found., [RefSeq, PubMed]; STIL/AURKA axis promotes cell proliferation by influencing primary cilia formation in bladder cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 27, "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": "Q5T0C5;Q68CN9", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0046601 positive regulation of centriole replication;GO:0000578 embryonic axis specification;GO:1905832 positive regulation of spindle assembly;GO:0001701 in utero embryonic development;GO:0030900 forebrain development", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q15468-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9NRF9-1", "uniprot_id": "DPOE3_HUMAN", "mass": 16860.0, "length": 147, "protein_name": "DNA polymerase epsilon subunit 3", "gene_name": "POLE3", "organism": "Human", "refseq_name": "DNA polymerase epsilon subunit 3", "refseq_ac": "NP_001265184", "gene_names_uniprotkb": "POLE3; CHRAC17", "gene_names_refseq": "CHARAC17; CHRAC17; CHRAC2; POLE3; YBL1; p17", "protein_names_uniprotkb": "DNA polymerase epsilon subunit 3; Arsenic-transactivated protein; AsTP; CHRAC-17; Chromatin accessibility complex 17 kDa protein; DNA polymerase II subunit 3; DNA polymerase epsilon subunit p17; HuCHRAC17", "protein_names_refseq": "CHRAC-17; DNA polymerase II subunit 3; DNA polymerase epsilon p17 subunit; DNA polymerase epsilon subunit 3; DNA polymerase epsilon subunit p17; arsenic transactivated protein; asTP; chromatin accessibility complex 17 kDa protein; chromatin accessibility complex subunit 2; histone fold protein CHRAC17; huCHRAC17; polymerase (DNA directed), epsilon 3 (p17 subunit); polymerase (DNA directed), epsilon 3, accessory subunit; polymerase (DNA) epsilon 3, accessory subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:54107); (R-HSA-110314); (R-HSA-5651801); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-68952); (R-HSA-68962)", "pathway_count": 12, "publication_count": 149, "publication_id_list": "10.1101/2023.09.13.557529;10373557;10460157;10518787;10523313;10559261;10744741;10757793;10801132;10801849;10846177;10856253;10880450;10882098;10959839;10984059;11006276;11095689;11125146;11250913;11601988;11687589;11698410;12045100;12200445;12226657;12434153;12444249;14517266;14759371;15199127;15590680;15916957;16246722;16337601;16464020;16531995;17000769;17043239;17081983;17466625;17466626;17720710;17948053;18079701;18342608;18669648;18691976;18991276;19074197;19153606;19223468;19279666;19651622;19940136;19941829;20068231;20129063;20227374;21143968;21282463;21406692;21628590;21993680;22081108;22700975;22859295;22952233;23000965;23143872;23593430;23686288;23731732;24402227;24449906;24485656;24715725;24768535;25231993;25576301;25645385;25810538;25892735;26154972;26811146;26992070;27846572;28218747;28228285;28446606;28510447;28832583;28834231;28904123;29242379;29331515;29437277;29493099;29557506;29632711;29769354;29786170;30315122;30429286;30524438;30779550;30833945;31092671;31154438;31844290;31848261;32157095;32161166;32357974;32502341;32897882;32983136;33141586;33392160;33592498;33691108;33912179;33936100;33981976;34087483;34932366;35051231;35251023;35318648;35561310;35580925;36241641;36284347;36581221;37938771;38753485;6094569;6693436;7700386;8078911;8658138;8751446;9214649;9649448;9660782;9699634;9716411;9780000;9875289", "class_list": "", "function": "Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity). Forms a complex with CHRAC1 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome-remodeling activity of ISWI/SNF2H and ACF1 (PubMed:10801849). Does not enhance nucleosome sliding activity of the ACF-5 ISWI chromatin remodeling complex (PubMed:14759371)., [UniProtKB, PubMed, PubMed, UniProtKB]; Loss of POLE3-POLE4 unleashes replicative gap accumulation upon treatment with PARP inhibitors., [RefSeq, PubMed]; POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 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": "Q5W0U1;Q8N758;Q8NCE5;Q9NR32", "ec_number_list": "", "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0046982 protein heterodimerization activity;GO:0031490 chromatin DNA binding", "go_cellular_component": "GO:0008622 epsilon DNA polymerase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0008623 CHRAC;GO:0140672 ATAC complex", "go_biological_process": "GO:0006272 leading strand elongation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006260 DNA replication;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q9NRF9-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BZS1-1", "uniprot_id": "FOXP3_HUMAN", "mass": 47244.0, "length": 431, "protein_name": "Forkhead box protein P3", "gene_name": "FOXP3", "organism": "Human", "refseq_name": "forkhead box protein P3 isoform b", "refseq_ac": "NP_001107849", "gene_names_uniprotkb": "FOXP3; IPEX; JM2", "gene_names_refseq": "AIID; DIETER; FOXP3; IPEX; JM2; PIDX; XPID", "protein_names_uniprotkb": "Forkhead box protein P3; Scurfin", "protein_names_refseq": "FOXP3delta7; forkhead box protein P3 isoform b; forkhead box protein P3; immune dysregulation, polyendocrinopathy, enteropathy, X-linked; immunodeficiency, polyendocrinopathy, enteropathy, X-linked", "tax_id": 9606, "disease": "Korean hemorrhagic fever (Disease Ontology:DOID:0050200); adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); specific developmental disorder (Disease Ontology:DOID:0060038); graft-versus-host disease (Disease Ontology:DOID:0081267); immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (Disease Ontology:DOID:0090110); pleural tuberculosis (Disease Ontology:DOID:106); hypertension (Disease Ontology:DOID:10763); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); anogenital venereal wart (Disease Ontology:DOID:11168); chlamydia (Disease Ontology:DOID:11263); primary biliary cholangitis (Disease Ontology:DOID:12236); malaria (Disease Ontology:DOID:12365); hypothyroidism (Disease Ontology:DOID:1459); hepatitis C (Disease Ontology:DOID:1883); hepatitis B (Disease Ontology:DOID:2043); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); Epstein-Barr virus infectious disease (Disease Ontology:DOID:2938); pulmonary tuberculosis (Disease Ontology:DOID:2957); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); multidrug-resistant tuberculosis (Disease Ontology:DOID:401); syphilis (Disease Ontology:DOID:4166); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); hepatocellular carcinoma (Disease Ontology:DOID:684); infectious mononucleosis (Disease Ontology:DOID:8568); cutaneous leishmaniasis (Disease Ontology:DOID:9111); Wiskott-Aldrich syndrome (Disease Ontology:DOID:9169); colorectal cancer (Disease Ontology:DOID:9256); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:50943); (R-HSA-8877330); (R-HSA-8939256)", "pathway_count": 3, "publication_count": 54, "publication_id_list": "10533284;11120765;11137992;11137993;11138001;11237011;11768393;12220513;15790681;16873067;17360565;17377532;18354202;18368049;18951619;19117830;19800266;20676092;21458306;22312127;22678915;23169781;23396208;23543754;23947341;23973222;23973223;24155921;24350059;24354325;24722479;24835996;25047417;25096571;25567984;26735887;28832583;29242379;29352742;29493099;29786170;30011797;30513302;31143508;31844290;32157095;32363124;32644293;35051231;39000267;39080325;39099201;39111316;39234236", "class_list": "", "function": "Antisense targeting of FOXP3+ Tregs to boost anti-tumor immunity. Publication Status: Online-Only, [RefSeq, PubMed]; Deciphering the role of protein kinase A in the control of FoxP3 expression in regulatory T cells in health and autoimmunity. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic and Epigenetic Association of FOXP3 with Papillary Thyroid Cancer Predisposition. Erratum:[Int J Mol Sci. 2025 Jul 14;26(14):6725. doi: 10.3390/ijms26146725. PMID: 40725275] Publication Status: Online-Only, [RefSeq, PubMed]; Role of Forkhead Box P3 in IFNgamma-Mediated PD-L1 Expression and Bladder Cancer Epithelial-to-Mesenchymal Transition., [RefSeq, PubMed]; The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor Ikzf1 associates with Foxp3 to repress gene expression in Treg cells and limit autoimmunity and anti-tumor immunity., [RefSeq, PubMed]; Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg) (PubMed:17377532, PubMed:21458306, PubMed:23947341, PubMed:24354325, PubMed:24722479, PubMed:24835996, PubMed:30513302, PubMed:32644293). Plays an essential role in maintaining homeostasis of the immune system by allowing the acquisition of full suppressive function and stability of the Treg lineage, and by directly modulating the expansion and function of conventional T-cells (PubMed:23169781). Can act either as a transcriptional repressor or a transcriptional activator depending on its interactions with other transcription factors, histone acetylases and deacetylases (PubMed:17377532, PubMed:21458306, PubMed:23947341, PubMed:24354325, PubMed:24722479). The suppressive activity of Treg involves the coordinate activation of many genes, including CTLA4 and TNFRSF18 by FOXP3 along with repression of genes encoding cytokines such as interleukin-2 (IL2) and interferon-gamma (IFNG) (PubMed:17377532, PubMed:21458306, PubMed:23947341, PubMed:24354325, PubMed:24722479). Inhibits cytokine production and T-cell effector function by repressing the activity of two key transcription factors, RELA and NFATC2 (PubMed:15790681). Mediates transcriptional repression of IL2 via its association with histone acetylase KAT5 and histone deacetylase HDAC7 (PubMed:17360565). Can activate the expression of TNFRSF18, IL2RA and CTLA4 and repress the expression of IL2 and IFNG via its association with transcription factor RUNX1 (PubMed:17377532). Inhibits the differentiation of IL17 producing helper T-cells (Th17) by antagonizing RORC function, leading to down-regulation of IL17 expression, favoring Treg development (PubMed:18368049). Inhibits the transcriptional activator activity of RORA (PubMed:18354202). Can repress the expression of IL2 and IFNG via its association with transcription factor IKZF4 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 31, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5HJT1;B7ZLG0;B9UN80;O60827;Q14DD8;Q4ZH51", "ec_number_list": "", "go_molecular_function": "GO:0051525 NFAT protein binding;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0032693 negative regulation of interleukin-10 production;GO:0002362 CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment;GO:0002725 negative regulation of T cell cytokine production;GO:0032700 negative regulation of interleukin-17 production;GO:0032703 negative regulation of interleukin-2 production", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9BZS1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q3LI76-1", "uniprot_id": "KR151_HUMAN", "mass": 14979.0, "length": 137, "protein_name": "Keratin-associated protein 15-1", "gene_name": "KRTAP15-1", "organism": "Human", "refseq_name": "keratin-associated protein 15-1", "refseq_ac": "NP_853654", "gene_names_uniprotkb": "KRTAP15-1; KAP15.1", "gene_names_refseq": "KAP15.1; KRTAP15-1", "protein_names_uniprotkb": "Keratin-associated protein 15-1", "protein_names_refseq": "keratin-associated protein 15-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:254950); (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": 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": "Q2M3F4", "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": "Q3LI76-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O00264-1", "uniprot_id": "PGRC1_HUMAN", "mass": 21671.0, "length": 195, "protein_name": "Membrane-associated progesterone receptor component 1", "gene_name": "PGRMC1", "organism": "Human", "refseq_name": "membrane-associated progesterone receptor component 1 isoform 2", "refseq_ac": "NP_001269550", "gene_names_uniprotkb": "PGRMC1; HPR6.6; PGRMC", "gene_names_refseq": "Dap1; HPR6.6; IZA; MPR; PGRMC1", "protein_names_uniprotkb": "Membrane-associated progesterone receptor component 1; Dap1; IZA; mPR", "protein_names_refseq": "membrane-associated progesterone receptor component 1 isoform 2; membrane-associated progesterone receptor component 1; progesterone binding protein", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:10857); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "11697142;14523988;15302935;16565220;17081983;17287340;17487921;17924679;18088087;18318008;18452278;18491316;18510355;18578522;18669648;18691976;18707149;18767875;19367720;19369195;19413330;19415658;19562805;19651622;19664994;19690332;20058876;20068231;20166139;20230923;21406692;21730960;22292588;23186163;23301498;23481700;23650620;23763432;23793472;24275569;25418920;25675345;26988023;26992070;27448967;27599036;27920218;28007569;28218747;28396637;28559337;28904123;29069804;29393594;29557506;29632046;29786170;30429286;30443021;30524438;31222486;31611695;31844290;32119511;32157095;32245408;32265295;32293262;32350084;32387766;32488085;32870666;32897882;32938616;33214551;33298915;33592498;33968037;33981976;34171305;34357683;35137666;35251023;36010968;36213313;36241641;37453717;37938771;38308254;38489495;38555747;38665916;39059592;8692836;9705155", "class_list": "", "function": "Component of a progesterone-binding protein complex (PubMed:28396637). Binds progesterone (PubMed:25675345). Has many reported cellular functions (heme homeostasis, interaction with CYPs). Required for the maintenance of uterine histoarchitecture and normal female reproductive lifespan (By similarity). Intracellular heme chaperone. Regulates heme synthesis via interactions with FECH and acts as a heme donor for at least some hemoproteins (PubMed:27599036). Forms a ternary complex with TMEM97 receptor and low density lipid receptor/LDLR, which increases LDLR-mediated LDL lipoprotein internalization (PubMed:30443021)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Defining Requirements for Heme Binding in PGRMC1 and Identifying Key Elements that Influence Protein Dimerization., [RefSeq, PubMed]; Hpr6.6 regulates cell death through a novel oxidative damage response pathway., [RefSeq, PubMed]; PGRMC1 promotes NSCLC stemness phenotypes by disrupting TRIM56-mediated ubiquitination of AHR., [RefSeq, PubMed]; Progesterone-induced progesterone receptor membrane component 1 rise-to-decline changes are essential for decidualization. Publication Status: Online-Only, [RefSeq, PubMed]; Progesterone-mediated remodeling of the maternal-fetal interface by a PGRMC1-dependent mechanism., [RefSeq, PubMed]; This gene encodes a putative membrane-associated progesterone steroid receptor. The protein is expressed predominantly in the liver and kidney. [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": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1L3;Q9UGJ9", "ec_number_list": "", "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0001540 amyloid-beta binding;GO:0005496 steroid binding;GO:0020037 heme binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1905809 negative regulation of synapse organization;GO:0007613 memory;GO:0008306 associative learning;GO:1903078 positive regulation of protein localization to plasma membrane;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O00264-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P16949-1", "uniprot_id": "STMN1_HUMAN", "mass": 17303.0, "length": 149, "protein_name": "Stathmin", "gene_name": "STMN1", "organism": "Human", "refseq_name": "stathmin isoform b", "refseq_ac": "NP_001138926", "gene_names_uniprotkb": "STMN1; C1orf215; LAP18; OP18", "gene_names_refseq": "C1orf215; LAP18; Lag; OP18; PP17; PP19; PR22; SMN; STMN1", "protein_names_uniprotkb": "Stathmin; Leukemia-associated phosphoprotein p18; Metablastin; Oncoprotein 18; Op18; Phosphoprotein p19; Prosolin; Protein Pr22; pp17; pp19", "protein_names_refseq": "leukemia-associated phosphoprotein p18; metablastin; phosphoprotein 19; phosphoprotein p19; prosolin; stathmin 1/oncoprotein 18; stathmin isoform b; testicular tissue protein Li 189; transmembrane protein C1orf215", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:3925); (R-HSA-1251985)", "pathway_count": 2, "publication_count": 224, "publication_id_list": "10675326;10702243;10913145;11015208;11058583;11135364;11237011;11415983;11679632;11870780;12111843;12676564;12807903;14645234;15023535;15534001;16061658;16110469;16427064;16548883;16554300;16912174;16925597;16964243;16982419;17001604;17018285;17081983;17287340;1737801;17389683;17693683;17924679;18212344;18220336;18452278;18491316;18510355;18512783;18578522;18653779;18669648;18707149;18767875;18991276;19033656;19047365;19162178;1917919;19359244;19413330;19415658;19531498;19596786;19608861;19651622;19664994;19664995;19690332;20058876;20068231;20110360;20230923;20305658;20630875;20927383;21406692;21768358;21949786;22028470;22223895;22544926;22869377;23186163;23230143;23230144;23383112;23481700;23538402;2358074;24066165;24129315;24152729;24275569;24302736;24308844;24366607;24714562;24829397;25063586;25198505;25285524;25320307;25375189;2546936;25505266;25576301;25645385;25892735;26087399;26154972;26317901;26356819;26375851;26466335;26654769;26728094;26881937;26992070;27041561;27130664;27543614;27600516;2760073;27846572;27862975;27920218;28063628;28228285;28259950;28460485;28499923;28534969;28657654;28832583;28834231;28871256;28904123;29034341;29242379;29314611;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30429286;30628717;30779550;30784271;30833945;31154438;31217245;31222486;31373491;31530632;31546234;31611695;31717259;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32793885;32897882;32938616;32983136;33004792;33037191;33214551;33298915;33537174;33592498;33633747;33691108;33839152;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34405274;34509645;34561969;35051231;35154160;35251023;35318648;35580925;36010968;36241641;36284347;36749137;37466108;37642368;37938771;38030185;38244401;38665916;39894887;40596516;7637391;7775478;7851413;7925472;7982983;8002936;8125092;8245003;8325880;8376365;8906359;9154845;9271428;9369201;9425161;9686569;9712920;9731215;9788875", "class_list": "", "function": "Association Between High Expression of Phosphorylated-STMN1 and Mesenchymal Marker Expression and Cancer Stemness in Breast Cancer., [RefSeq, PubMed]; Expression of stathmin in asbestos-like fibers-induced mesothelioma: A preliminary report., [RefSeq, PubMed]; Involved in the regulation of the microtubule (MT) filament system by destabilizing microtubules. Prevents assembly and promotes disassembly of microtubules. Phosphorylation at Ser-16 may be required for axon formation during neurogenesis. Involved in the control of the learned and innate fear (By similarity)., [UniProtKB]; STMN1 promotes cell malignancy and bortezomib resistance of multiple myeloma cell lines via PI3K/AKT signaling., [RefSeq, PubMed]; Stathmin 1 and p53 Expression in Cutaneous Squamous Cell Carcinoma and Precursor Lesions., [RefSeq, PubMed]; The knockdown of stathmin with si-RNA inhibits invasion of mesothelioma., [RefSeq, PubMed]; This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 40, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2A2D1;B2R4E7;B7Z8N4;D3DPJ5", "ec_number_list": "", "go_molecular_function": "GO:0015631 tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0007165 signal transduction;GO:0031175 neuron projection development;GO:0035556 intracellular signal transduction;GO:0009615 response to virus", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "P16949-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q8WWB5-1", "uniprot_id": "PIHD2_HUMAN", "mass": 35957.0, "length": 315, "protein_name": "PIH1 domain-containing protein 2", "gene_name": "PIH1D2", "organism": "Human", "refseq_name": "PIH1 domain-containing protein 2 isoform 2", "refseq_ac": "NP_001076088", "gene_names_uniprotkb": "PIH1D2", "gene_names_refseq": "DNAAF15; PIH1D2", "protein_names_uniprotkb": "PIH1 domain-containing protein 2", "protein_names_refseq": "PIH1 domain-containing protein 2 isoform 2; PIH1 domain-containing protein 2; dynein axonemal assembly factor 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:120379)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;16344560;24366607;33912179;33968037;35051231;36215666", "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": "B4DU48;E9PD82", "ec_number_list": "", "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0097255 R2TP complex;GO:0005737 cytoplasm;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0050821 protein stabilization;GO:0006364 rRNA processing;GO:0000492 box C/D snoRNP assembly", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8WWB5-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O95271-1", "uniprot_id": "TNKS1_HUMAN", "mass": 142039.0, "length": 1327, "protein_name": "Poly [ADP-ribose] polymerase tankyrase-1", "gene_name": "TNKS", "organism": "Human", "refseq_name": "poly [ADP-ribose] polymerase tankyrase-1", "refseq_ac": "NP_003738", "gene_names_uniprotkb": "TNKS; PARP5A; PARPL; TIN1; TINF1; TNKS1", "gene_names_refseq": "ARTD5; PARP-5a; PARP5A; PARPL; TIN1; TINF1; TNKS1; TNKS; pART5", "protein_names_uniprotkb": "Poly [ADP-ribose] polymerase tankyrase-1; 2.4.2.-; 2.4.2.30; ADP-ribosyltransferase diphtheria toxin-like 5; ARTD5; Poly [ADP-ribose] polymerase 5A; Protein poly-ADP-ribosyltransferase tankyrase-1; TANK1; TNKS-1; TRF1-interacting ankyrin-related ADP-ribose polymerase; Tankyrase I; Tankyrase-1", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 5; TANK1; TNKS-1; TRF1-interacting ankyrin-related ADP-ribose polymerase 1; poly [ADP-ribose] polymerase 5A; poly [ADP-ribose] polymerase tankyrase-1; protein poly-ADP-ribosyltransferase tankyrase-1; tankyrase I; tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase; tankyrase-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8658); (R-HSA-201681); (R-HSA-4641257); (R-HSA-5545619); (R-HSA-5689880); (R-HSA-8948751)", "pathway_count": 6, "publication_count": 203, "publication_id_list": "10198061;10444327;10523501;10982817;10988299;11029007;11035045;11237011;11357136;11448771;11493532;11566882;11739745;11923872;12080061;12205098;12223464;12297295;12768206;12917689;12917691;14636582;14661020;14981260;15053880;15084453;15208637;15454084;15459103;15916963;16076287;16116452;16214042;16280981;16554443;16723543;16884355;16901786;16964248;16971168;17026964;17218260;17234765;17290220;17443180;17873522;17980597;17981138;18077588;18172164;18423204;18436240;18467330;18632802;18636086;19000841;19015242;19125156;19135894;19188362;19345329;19363159;19398555;19424180;19473982;19619488;19729658;19759537;19838211;19874889;19910467;20004982;20096447;20106667;20228808;20368735;20501646;20858899;21239494;21362556;21383061;21478859;21532586;21571647;21596315;21659512;21799911;21849505;21875946;21962518;22000856;22014570;22029577;22085928;22128162;22216260;22411803;22427670;22440753;22653731;22773843;22864114;23144924;23159851;23256519;23395819;23419514;23481700;23486064;23622245;23791946;23824326;23825189;24056413;24260525;24270891;24367090;24493797;24714562;24715725;24896179;25043379;25197364;25305019;25547115;25576301;25578727;25645385;26154972;26183061;26280536;26992070;27600516;27846572;27920218;28063628;28228285;28446606;28514659;28619731;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;31154438;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33123756;33141586;33298915;33361107;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35580925;35733260;36010968;36215666;36241641;36284347;36603485;37217939;37741944;37938771;38216082;7578059;9135132;9391096;9501980;9822378", "class_list": "", "function": "BET protein-dependent E2F pathway activity confers bell-shaped type resistance to tankyrase inhibitors in APC-mutated colorectal cancer., [RefSeq, PubMed]; Effect and interaction of TNKS genetic polymorphisms and environmental factors on telomere damage in COEs-exposure workers., [RefSeq, PubMed]; Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking (PubMed:10988299, PubMed:11739745, PubMed:16076287, PubMed:19759537, PubMed:21478859, PubMed:22864114, PubMed:23622245, PubMed:25043379, PubMed:28619731). Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation (PARsylation) of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly-ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation (PubMed:19759537, PubMed:21478859). Also mediates PARsylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination (PubMed:21478859). Mediates PARsylation of TERF1, thereby contributing to the regulation of telomere length (PubMed:11739745). Involved in centrosome maturation during prometaphase by mediating PARsylation of HEPACAM2/MIKI (PubMed:22864114). May also regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles (PubMed:10988299). May be involved in spindle pole assembly through PARsylation of NUMA1 (PubMed:16076287). Stimulates 26S proteasome activity (PubMed:23622245)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Tankyrase inhibition interferes with junction remodeling, induces leakiness, and disturbs YAP1/TAZ signaling in the endothelium., [RefSeq, PubMed]; Tankyrases inhibit innate antiviral response by PARylating VISA/MAVS and priming it for RNF146-mediated ubiquitination and degradation., [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": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 36, "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": "O95272;Q4G0F2;Q59FX0", "ec_number_list": "3.4.19.12;2.4.2.-;2.4.2.30;3.4.25.1;3.1.3.67;3.1.3.-;3.1.3.16;3.1.3.48;2.3.2.27", "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0070213 protein auto-ADP-ribosylation;GO:0015031 protein transport;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051301 cell division;GO:0032212 positive regulation of telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "O95271-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q92879-1", "uniprot_id": "CELF1_HUMAN", "mass": 52063.0, "length": 486, "protein_name": "CUGBP Elav-like family member 1", "gene_name": "CELF1", "organism": "Human", "refseq_name": "CUGBP Elav-like family member 1 isoform 3", "refseq_ac": "NP_001020767", "gene_names_uniprotkb": "CELF1; BRUNOL2; CUGBP1; CUGBP; NAB50", "gene_names_refseq": "BRUNOL2; CELF1; CUG-BP; CUGBP1; CUGBP; EDEN-BP; NAB50; NAPOR; hNab50", "protein_names_uniprotkb": "CUGBP Elav-like family member 1; 50 kDa nuclear polyadenylated RNA-binding protein; Bruno-like protein 2; CELF-1; CUG triplet repeat RNA-binding protein 1; CUG-BP- and ETR-3-like factor 1; CUG-BP1; Deadenylation factor CUG-BP; EDEN-BP homolog; Embryo deadenylation element-binding protein homolog; RNA-binding protein BRUNOL-2", "protein_names_refseq": "50 kDa nuclear polyadenylated RNA-binding protein; CUG RNA-binding protein; CUG triplet repeat RNA-binding protein 1; CUG-BP- and ETR-3-like factor 1; CUGBP Elav-like family member 1 isoform 3; EDEN-BP homolog; RNA-binding protein BRUNOL-2; bruno-like 2; bruno-like protein 2; deadenylation factor CUG-BP; embryo deadenylation element binding protein; embryo deadenylation element-binding protein homolog; nuclear polyadenylated RNA-binding protein, 50-kD", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:10658)", "pathway_count": 1, "publication_count": 106, "publication_id_list": "10536163;10893231;11124939;11158314;11237011;11686919;11707455;12649496;12799066;14726956;14759258;16601207;16862542;16931514;16946708;18570922;18991276;20068231;20947024;23186163;23301498;23481700;24366607;24376746;24714562;24715725;25576301;25645385;25802875;26154972;26375851;26728094;26992070;27846572;27862975;27920218;28228285;28431233;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29371260;29485866;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32119511;32157095;32161166;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33400247;33592498;33667514;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34509645;34697393;34725712;34932366;35051231;35318648;35561310;35580925;35973378;36010968;36241641;36284347;37938771;38665916;38768546;40596516;8948631", "class_list": "", "function": "DLX6-AS1 activated by H3K4me1 enhanced secondary cisplatin resistance of lung squamous cell carcinoma through modulating miR-181a-5p/miR-382-5p/CELF1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Gene-gene functional relationships in Alzheimer's disease: CELF1 regulates KLC1 alternative splicing., [RefSeq, PubMed]; LncRNA BACE1-AS enhances the invasive and metastatic capacity of hepatocellular carcinoma cells through mediating miR-377-3p/CELF1 axis., [RefSeq, PubMed]; Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Acts both as an activator and as a repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Activates SM exon 5 inclusion by antagonizing the repressive effect of PTB. Promotes exclusion of exon 11 of the INSR pre-mRNA. Inhibits, together with HNRNPH1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Increases translation and controls the choice of translation initiation codon of CEBPB mRNA. Increases mRNA translation of CEBPB in aging liver (By similarity). Increases translation of CDKN1A mRNA by antagonizing the repressive effect of CALR3. Mediates rapid cytoplasmic mRNA deadenylation. Recruits the deadenylase PARN to the poly(A) tail of EDEN-containing mRNAs to promote their deadenylation. Required for completion of spermatogenesis (By similarity). Binds to (CUG)n triplet repeats in the 3'-UTR of transcripts such as DMPK and to Bruno response elements (BREs). Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. Binds to AU-rich sequences (AREs or EDEN-like) localized in the 3'-UTR of JUN and FOS mRNAs. Binds to the IR RNA. Binds to the 5'-region of CDKN1A and CEBPB mRNAs. Binds with the 5'-region of CEBPB mRNA in aging liver. May be a specific regulator of miRNA biogenesis. Binds to primary microRNA pri-MIR140 and, with CELF2, negatively regulates the processing to mature miRNA (PubMed:28431233)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SP1-induced AFAP1-AS1 contributes to proliferation and invasion by regulating miR-497-5p/CELF1 pathway in nasopharyngeal carcinoma., [RefSeq, PubMed]; The RNA-binding proteins CELF1 and ELAVL1 cooperatively control the alternative splicing of CD44., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 8, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4E2U5;D3DQS0;F8W940;Q4LE52;Q9NP83;Q9NR06", "ec_number_list": "", "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0036002 pre-mRNA binding;GO:0042835 BRE binding;GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0009792 embryo development ending in birth or egg hatching;GO:0006397 mRNA processing;GO:0008285 negative regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q92879-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BUX1-1", "uniprot_id": "CHAC1_HUMAN", "mass": 24418.0, "length": 222, "protein_name": "Glutathione-specific gamma-glutamylcyclotransferase 1", "gene_name": "CHAC1", "organism": "Human", "refseq_name": "glutathione-specific gamma-glutamylcyclotransferase 1 isoform b", "refseq_ac": "NP_001136248", "gene_names_uniprotkb": "CHAC1; BOTCH", "gene_names_refseq": "CHAC1", "protein_names_uniprotkb": "Glutathione-specific gamma-glutamylcyclotransferase 1; 4.3.2.7; Blocks Notch protein; Botch; Cation transport regulator-like protein 1; Gamma-GCG 1", "protein_names_refseq": "ChaC, cation transport regulator homolog 1; ChaC, cation transport regulator-like 1; blocks Notch protein; botch; gamma-GCG 1; gamma-GCT acting on glutathione homolog 1; glutathione-specific gamma-glutamylcyclotransferase 1 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:79094); (R-HSA-174403); (R-HSA-9648895)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10369661;10982836;11163539;11237011;11241327;12473676;14630918;17140605;17267404;17726049;17924658;18055463;18357469;18515354;19109178;19463;20423929;21712391;22108517;22445366;23481700;23682772;23876217;24715725;25418920;25469497;2573352;25892735;25931127;26154972;26375851;26811146;26992070;27600516;27913623;28814160;28904123;29393594;29437277;29632046;29769354;31217245;31844290;32157095;32387766;32938616;33298915;33912179;33968037;34171305;35051231;36675091;36916093;37948019;38247333;38769193;7646467;7826375;8813074;9080;9153226;9516961;9675072", "class_list": "", "function": "CHAC1 as a Novel Contributor of Ferroptosis in Retinal Pigment Epithelial Cells with Oxidative Damage. Publication Status: Online-Only, [RefSeq, PubMed]; CHAC1 exacerbates LPS-induced ferroptosis and apoptosis in HK-2 cells by promoting oxidative stress. Publication Status: Online-Only, [RefSeq, PubMed]; CHAC1 promotes cell ferroptosis and enhances radiation sensitivity in thyroid carcinoma., [RefSeq, PubMed]; Cancer associated fibroblast secreted miR-432-5p targets CHAC1 to inhibit ferroptosis and promote acquired chemoresistance in prostate cancer., [RefSeq, PubMed]; Catalyzes the cleavage of glutathione into 5-oxo-L-proline and a Cys-Gly dipeptide. Acts specifically on glutathione, but not on other gamma-glutamyl peptides (PubMed:27913623). Glutathione depletion is an important factor for apoptosis initiation and execution. Acts as a pro-apoptotic component of the unfolded protein response pathway by mediating the pro-apoptotic effects of the ATF4-ATF3-DDIT3/CHOP cascade (PubMed:19109178). Negative regulator of Notch signaling pathway involved in embryonic neurogenesis: acts by inhibiting Notch cleavage by furin, maintaining Notch in an immature inactive form, thereby promoting neurogenesis in embryos (PubMed:22445366)., [UniProtKB, PubMed, PubMed, PubMed]; High CHAC1 mRNA expression could be an independent indicator for elevated risk of cancer recurrence in breast and ovarian cancer, [RefSeq, PubMed]; MIA3 promotes the degradation of GSH (glutathione) by binding to CHAC1, thereby promoting the progression of hepatocellular carcinoma., [RefSeq, PubMed]; This gene encodes a member of the gamma-glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate increased risk of cancer recurrence among breast and ovarian cancer patients. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q0VIA0", "ec_number_list": "4.3.2.7", "go_molecular_function": "GO:0005112 Notch binding;GO:0061928 glutathione specific gamma-glutamylcyclotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006751 glutathione catabolic process;GO:0007219 Notch signaling pathway;GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;GO:0022008 neurogenesis;GO:0045746 negative regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9BUX1-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z7E8-1", "uniprot_id": "UB2Q1_HUMAN", "mass": 46127.0, "length": 422, "protein_name": "Ubiquitin-conjugating enzyme E2 Q1", "gene_name": "UBE2Q1", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 Q1", "refseq_ac": "NP_060052", "gene_names_uniprotkb": "UBE2Q1; NICE5; PRO3094; UBE2Q", "gene_names_refseq": "GTAP; NICE-5; NICE5; PRO3094; UBE2Q1; UBE2Q", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 Q1; 2.3.2.23; E2 ubiquitin-conjugating enzyme Q1; Protein NICE-5; Ubiquitin carrier protein Q1; Ubiquitin-protein ligase Q1", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme Q1; galactosyl transferase-associated protein; protein NICE-5; ubiquitin carrier protein Q1; ubiquitin conjugating enzyme E2Q family member 1; ubiquitin-conjugating enzyme E2 Q1; ubiquitin-conjugating enzyme E2Q (putative) 1; ubiquitin-protein ligase Q1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55585); (R-HSA-983168)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "11062501;11230159;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;17287340;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;22124266;22223895;22496338;22544926;2261476;23301498;23481700;24715725;25505266;25576301;26375851;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30484775;30779550;31092671;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33691108;33717175;33770685;33912179;33968037;34032735;34405274;34509645;34561969;34932366;34944446;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37198983;37938771;40914422;9380723;9668046", "class_list": "", "function": "Aberrant methylation of UBE2Q1 promoter is associated with poor prognosis of acute-on-chronic hepatitis B pre-liver failure., [RefSeq, PubMed]; Analysis of the Interaction of UBE2Q1 with B4GALT1 and P53: Experimental and Molecular Modeling Study., [RefSeq, PubMed]; Catalyzes the covalent attachment of ubiquitin to other proteins (PubMed:22496338). May be involved in hormonal homeostasis in females. Involved in regulation of B4GALT1 cell surface expression, B4GALT1-mediated cell adhesion to laminin and embryoid body formation (By similarity)., [UniProtKB, UniProtKB, PubMed]; MiR-338-3p inhibits autophagy in a rat model of allergic rhinitis after PM2.5 exposure through AKT/mTOR signaling by targeting UBE2Q1., [RefSeq, PubMed]; Structural and Functional Characterization of Legionella pneumophila Effector MavL. Publication Status: Online-Only, [RefSeq, PubMed]; The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]., [RefSeq]; We found somatic mutations of HERC2, HERC3, TRIP12, UBE2Q1 and UBE4B genes in gastric carcinoma and colorectal carcinomas with microsatellite instability, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DF92;Q29SN7;Q3B841;Q5I0X2;Q6IS04;Q6P7P2;Q96MV4;Q9BVX5;Q9UGL6", "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:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0030175 filopodium", "go_biological_process": "GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q7Z7E8-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P26022-1", "uniprot_id": "PTX3_HUMAN", "mass": 41976.0, "length": 381, "protein_name": "Pentraxin-related protein PTX3", "gene_name": "PTX3", "organism": "Human", "refseq_name": "pentraxin-related protein PTX3 precursor", "refseq_ac": "NP_002843", "gene_names_uniprotkb": "PTX3; TNFAIP5; TSG14", "gene_names_refseq": "PTX3; TNFAIP5; TSG-14", "protein_names_uniprotkb": "Pentraxin-related protein PTX3; Pentaxin-related protein PTX3; TNF alpha-induced protein 5; TSG-14; Tumor necrosis factor alpha-induced protein 5; Tumor necrosis factor-inducible gene 14 protein", "protein_names_refseq": "TNF alpha-induced protein 5; long pentraxin 3; pentraxin-related protein PTX3 precursor; pentraxin-related protein PTX3; tumor necrosis factor alpha-induced protein 5; tumor necrosis factor-inducible gene 14 protein; tumor necrosis factor-inducible protein TSG-14", "tax_id": 9606, "disease": "invasive aspergillosis (Disease Ontology:DOID:0050073); pulmonary aspergilloma (Disease Ontology:DOID:0050153); obstructive sleep apnea (Disease Ontology:DOID:0050848); pelvic inflammatory disease (Disease Ontology:DOID:1003); toxic shock syndrome (Disease Ontology:DOID:14115); cystic fibrosis (Disease Ontology:DOID:1485); hepatitis C (Disease Ontology:DOID:1883)", "pathway": " (hsa:5806); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;12763682;1429570;16981714;18223257;23345538;23650620;25502872;29557506;30459171;31154438;31844290;32938616;33968037;35102342;35939690;37074911;38457930;38460457;38720330;38724075;39187920;7523502;7679696;8131794;8692836", "class_list": "", "function": "EGF-like growth factors upregulate pentraxin 3 expression in human granulosa-lutein cells. Publication Status: Online-Only, [RefSeq, PubMed]; Functional variants of the pentraxin 3 gene are associated with the metastasis and progression of prostate cancer., [RefSeq, PubMed]; NAT10 promotes synovial aggression by increasing the stability and translation of N4-acetylated PTX3 mRNA in rheumatoid arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Neutrophil activation biomarker pentraxin 3 for diagnosis and monitoring of macrophage activation syndrome occurrence in adult-onset Still's disease., [RefSeq, PubMed]; Pentraxin 3 exacerbates psoriasiform dermatitis through regulation of macrophage polarization., [RefSeq, PubMed]; Plays a role in the regulation of innate resistance to pathogens, inflammatory reactions, possibly clearance of self-components and female fertility., [UniProtKB, PubMed]; This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [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": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 6, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R6T6;Q38M82", "ec_number_list": "", "go_molecular_function": "GO:0042802 identical protein binding;GO:0001872 (1->3)-beta-D-glucan binding;GO:0001849 complement component C1q complex binding;GO:0046790 virion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0035580 specific granule lumen;GO:1904724 tertiary granule lumen", "go_biological_process": "GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0044871 negative regulation by host of viral glycoprotein metabolic process;GO:1903019 negative regulation of glycoprotein metabolic process;GO:0044793 host-mediated suppression of viral proces", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P26022-1", "record_type": "protein" }, { "uniprot_canonical_ac": "O94993-1", "uniprot_id": "SOX30_HUMAN", "mass": 81854.0, "length": 753, "protein_name": "Transcription factor SOX-30", "gene_name": "SOX30", "organism": "Human", "refseq_name": "transcription factor SOX-30 isoform c", "refseq_ac": "NP_001295094", "gene_names_uniprotkb": "SOX30", "gene_names_refseq": "SOX30", "protein_names_uniprotkb": "Transcription factor SOX-30", "protein_names_refseq": "SRY (sex determining region Y)-box 30; SRY-box 30; Sox30 protein type II; transcription factor SOX-30 isoform c; transcription factor SOX-30", "tax_id": 9606, "disease": "lung cancer (Disease Ontology:DOID:1324); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:11063)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10359848;24715725;25435374;29739711;30379171;31889959;32157740;32334007;33912179;34087483;35051231;36215666", "class_list": "", "function": "Acts both as a transcriptional activator and a repressor (PubMed:10359848, PubMed:29739711). Binds to the DNA sequence 5'-ACAAT-3' and shows a preference for guanine residues surrounding this core motif (PubMed:10359848). Binds to its own promoter and activates its own transcription (By similarity). Required to activate the expression of postmeiotic genes involved in spermiogenesis (By similarity). Binds to the promoter region of CTNNB1 and represses its transcription which leads to inhibition of Wnt signaling (PubMed:29739711). Also inhibits Wnt signaling by binding to the CTNNB1 protein, preventing interaction of CTNNB1 with TCF7L2/TCF4 (PubMed:29739711)., [UniProtKB, PubMed, PubMed, UniProtKB]; Blockade of p53 attenuates the tumor inhibition of SOX30., [RefSeq, PubMed]; Correlation of sex-determining region Y-box 30 with tumor characteristics and its prognostic value in breast cancer., [RefSeq, PubMed]; SOX30 confers a tumor suppressive effect in acute myeloid leukemia through inactivation of Wnt/beta-catenin signaling., [RefSeq, PubMed]; SOX30 upregulation due to miR-653-5p inhibition restricted the proliferation and invasion of prostate cancer cells, and this was associated with Wnt/ CTNNB1 signaling suppression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O94995;Q8IYX6", "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:0008013 beta-catenin binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O94993-1", "record_type": "protein" }, { "uniprot_canonical_ac": "P50458-1", "uniprot_id": "LHX2_HUMAN", "mass": 44373.0, "length": 406, "protein_name": "LIM/homeobox protein Lhx2", "gene_name": "LHX2", "organism": "Human", "refseq_name": "LIM/homeobox protein Lhx2", "refseq_ac": "NP_004780", "gene_names_uniprotkb": "LHX2; LH2", "gene_names_refseq": "LH2; LHX2; hLhx2", "protein_names_uniprotkb": "LIM/homeobox protein Lhx2; Homeobox protein LH-2; LIM homeobox protein 2", "protein_names_refseq": "LIM HOX gene 2; LIM homeobox protein 2; LIM/homeobox protein Lhx2; homeobox protein LH-2", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596); congenital nystagmus (Disease Ontology:DOID:9649); pathologic nystagmus (Disease Ontology:DOID:9650)", "pathway": " (hsa:9355); (R-HSA-9010553); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "10051612;11237011;19706539;23217742;23746841;24715725;24800820;25242263;25576301;27515280;28832583;29242379;31154438;31222486;31974307;32066986;33141586;33936100;34087483;35051231;35864158;36649236;37057675;37518356;8649822", "class_list": "", "function": "Acts as a transcriptional activator. Stimulates the promoter of the alpha-glycoprotein gene. Transcriptional regulatory protein involved in the control of cell differentiation in developing lymphoid and neural cell types (By similarity)., [UniProtKB]; LHX2 facilitates the progression of nasopharyngeal carcinoma via activation of the FGF1/FGFR axis., [RefSeq, PubMed]; LHX2 haploinsufficiency causes a variable neurodevelopmental disorder., [RefSeq, PubMed]; LIM Homeobox 2 Increases Adhesion-Regulating Molecule 1 Transcription to Facilitate the Pathological Progression of Oxidized Low-Density Lipoprotein-Stimulated Atherosclerotic Cell Models., [RefSeq, PubMed]; The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95860;Q52M57;Q8N1Z3", "ec_number_list": "", "go_molecular_function": "GO:0003682 chromatin binding;GO:0046872 metal ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0030182 neuron differentiation;GO:2000179 positive regulation of neural precursor cell proliferation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P50458-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6IQ55-1", "uniprot_id": "TTBK2_HUMAN", "mass": 137412.0, "length": 1244, "protein_name": "Tau-tubulin kinase 2", "gene_name": "TTBK2", "organism": "Human", "refseq_name": "tau-tubulin kinase 2", "refseq_ac": "NP_775771", "gene_names_uniprotkb": "TTBK2; KIAA0847", "gene_names_refseq": "SCA11; TTBK2; TTBK", "protein_names_uniprotkb": "Tau-tubulin kinase 2; 2.7.11.1", "protein_names_refseq": "tau-tubulin kinase 2", "tax_id": 9606, "disease": "spinocerebellar ataxia 11 (Disease Ontology:DOID:0050961)", "pathway": " (hsa:146057); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "11237011;15148151;16357211;17344846;17574030;17646400;17719545;18037885;18694559;18801063;19004860;19081074;19413330;19533200;19940019;20068231;20230748;20308558;20399632;20558667;21273506;21406692;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22433857;22653444;22863007;23141531;23141541;23186163;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;24053599;24089205;24231678;24397554;24469809;24982133;25047611;25313408;25576301;26063658;26598643;26811146;27263857;27846572;28904123;29557506;30375385;30779550;31844290;32357974;32502341;33141586;33298915;33592498;33912179;33968037;34087483;34357683;34499853;35051231;36892783;37059819;37848700", "class_list": "", "function": "A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11., [RefSeq, PubMed]; Modulation of tau tubulin kinases (TTBK1 and TTBK2) impacts ciliogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies., [RefSeq, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro (PubMed:23141541). Phosphorylates MPHOSPH9 which promotes its ubiquitination and proteasomal degradation, loss of MPHOSPH9 facilitates the removal of the CP110-CEP97 complex (a negative regulator of ciliogenesis) from the mother centrioles, promoting the initiation of ciliogenesis (PubMed:30375385). Required for recruitment of CPLANE2 and INTU to the mother centriole (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms. Review article, [RefSeq, PubMed]; This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 9343, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O94932;Q6ZN52;Q8IVV1", "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;3.6.4.10;2.7.1.40;3.1.11.-;2.7.4.6;2.7.13.3;2.7.4.18;3.1.24.-;2.7.11.11;2.3.1.48;2.3.1.-;2.7.1.153;2.7.1.137;2.7.11.26;2.7.1.154;2.7.11.31;3.6.5.2;3.6.5.-;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:0048156 tau protein binding;GO:0050321 tau-protein kinase activity;GO:0019894 kinesin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005814 centriole", "go_biological_process": "GO:0021681 cerebellar granular layer development;GO:0007165 signal transduction;GO:0060271 cilium assembly;GO:0030334 regulation of cell migration;GO:0007026 negative regulation of microtubule depolymerization", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q6IQ55-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q7Z494-1", "uniprot_id": "NPHP3_HUMAN", "mass": 150864.0, "length": 1330, "protein_name": "Nephrocystin-3", "gene_name": "NPHP3", "organism": "Human", "refseq_name": "nephrocystin-3", "refseq_ac": "NP_694972", "gene_names_uniprotkb": "NPHP3; KIAA2000", "gene_names_refseq": "CFAP31; MKS7; NPH3; NPHP3; RHPD1; RHPD; SLSN3", "protein_names_uniprotkb": "Nephrocystin-3", "protein_names_refseq": "Meckel syndrome, type 7; cilia and flagella associated protein 31; nephrocystin-3; nephronophthisis 3 (adolescent)", "tax_id": 9606, "disease": "renal-hepatic-pancreatic dysplasia (Disease Ontology:DOID:0060259); Meckel syndrome 7 (Disease Ontology:DOID:0070121); nephronophthisis 3 (Disease Ontology:DOID:0111114); hypertension (Disease Ontology:DOID:10763); nephronophthisis (Disease Ontology:DOID:12712); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:27031); (R-HSA-5624138)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11237011;12056414;12872122;16472755;16525022;18371931;18376416;18588884;19850956;20106869;20462968;21285245;22085962;22389062;22863007;22884633;22960633;23418306;23793029;25576301;27600516;28834231;29557506;30429286;31154438;31848261;32157095;32387766;32938616;33592498;33936100;33968037;34087483;34171305;34212438;34509645;35051231;35580925;36010968;36498831;37217939;39408701", "class_list": "", "function": "A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families., [RefSeq, PubMed]; HeLa Cervical Cancer Cells Are Maintained by Nephronophthisis 3-Associated Primary Cilium Formation via ROS-Induced ERK and HIF-1alpha Activation under Serum-Deprived Normoxic Condition. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis., [RefSeq, PubMed]; Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements., [UniProtKB, PubMed]; This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]., [RefSeq]; Vinblastine Resistance Is Associated with Nephronophthisis 3-Mediated Primary Cilia via Intraflagellar Transport Protein 88 and Apoptosis-Antagonizing Transcription 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "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": "Q5JPE3;Q5JPE6;Q68D99;Q6NVH3;Q7Z492;Q7Z493;Q8N9R2;Q8NCM5;Q96N70;Q96NK2", "ec_number_list": "", "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005929 cilium;GO:0097546 ciliary base;GO:0097543 ciliary inversin compartment", "go_biological_process": "GO:2000095 regulation of Wnt signaling pathway, planar cell polarity pathway;GO:0060993 kidney morphogenesis;GO:0048496 maintenance of animal organ identity;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0001822 kidney development", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q7Z494-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q6EMK4-1", "uniprot_id": "VASN_HUMAN", "mass": 71713.0, "length": 673, "protein_name": "Vasorin", "gene_name": "VASN", "organism": "Human", "refseq_name": "vasorin precursor", "refseq_ac": "NP_612449", "gene_names_uniprotkb": "VASN; PRO1282; SLITL2", "gene_names_refseq": "SLITL2; VASN", "protein_names_uniprotkb": "Vasorin; Protein slit-like 2", "protein_names_refseq": "protein slit-like 2; vasorin precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:114990)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;12975309;15247411;16335952;18669648;19139490;19159218;22171320;23090970;23584533;24190977;25645385;26811146;29391424;29393594;29557506;29671580;29741879;29789417;30237853;30429286;30459171;31611695;31848261;32387766;32502341;32938616;33392160;33592498;34357683;35051231;35251023;36215666;37074911;37331376;37454705;38612924;38665916;38780524", "class_list": "", "function": "Evidence for the expression of vasorin in the human female reproductive tissues., [RefSeq, PubMed]; May act as an inhibitor of TGF-beta signaling., [UniProtKB, PubMed]; Results suggest that down-regulation of vasorin expression contributes to neointimal formation after vascular injury and that vasorin modulates cellular responses to pathological stimuli in the vessel wall [vasorin], [RefSeq, PubMed]; The Oligomeric State of Vasorin in the Plasma Membrane Measured Non-Invasively by Quantitative Fluorescence Fluctuation Spectroscopy. Publication Status: Online-Only, [RefSeq, PubMed]; Vasorin promotes endothelial differentiation of glioma stem cells via stimulating the transcription of VEGFR2., [RefSeq, PubMed]; Vasorin promotes proliferation and migration via STAT3 signaling and acts as a promising therapeutic target of hepatocellular carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 56, "disease_count": 0, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXL4;Q6UXL5;Q96CX1", "ec_number_list": "", "go_molecular_function": "GO:0045296 cadherin binding;GO:0050431 transforming growth factor beta binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0010719 negative regulation of epithelial to mesenchymal transition", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q6EMK4-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q9BYN7-1", "uniprot_id": "ZN341_HUMAN", "mass": 92728.0, "length": 854, "protein_name": "Zinc finger protein 341", "gene_name": "ZNF341", "organism": "Human", "refseq_name": "zinc finger protein 341 isoform 1", "refseq_ac": "NP_001269862", "gene_names_uniprotkb": "ZNF341", "gene_names_refseq": "HIES3; ZNF341", "protein_names_uniprotkb": "Zinc finger protein 341", "protein_names_refseq": "zinc finger protein 341 isoform 1", "tax_id": 9606, "disease": "autosomal recessive hyper-IgE syndrome 3 with recurrent infections (Disease Ontology:DOID:0080595)", "pathway": " (hsa:84905)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;29242379;29907690;29907691;30315122;31844290;32387766;33298915;33912179;34171305;35051231;35185921;35511492;36241641;37080116", "class_list": "", "function": "Human ZNF341 is essential for the STAT3 transcription-dependent autoinduction and sustained activity of STAT3., [RefSeq, PubMed]; Hyper IgE Syndrome in an Isolated Population in Israel. Publication Status: Online-Only, [RefSeq, PubMed]; Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations., [RefSeq, PubMed]; Inherited human ZNF341 deficiency. Review article, [RefSeq, PubMed]; Study reports two distinct homozygous nonsense mutations in exons 6 and 8 of ZNF341 in four consanguineous families with recurrent bacterial and fungal infections. ZNF341 mutations segregate with a phenotype resembling hyper-immunoglobulin E syndrome. Authors describe ZNF341 as a positive regulator of STAT3 expression and report the clinical and laboratory phenotype of individuals lacking ZNF341., [RefSeq, PubMed]; Transcriptional activator of STAT3 involved in the regulation of immune homeostasis. Also able to activate STAT1 transcription., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2RUF4;B2RXE5;B7ZM09;Q5JXM8;Q96ST5", "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:0001216 DNA-binding transcription activator activity", "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": 1.6, "record_id": "Q9BYN7-1", "record_type": "protein" }, { "uniprot_canonical_ac": "Q96GX9-1", "uniprot_id": "MTNB_HUMAN", "mass": 27125.0, "length": 242, "protein_name": "Methylthioribulose-1-phosphate dehydratase", "gene_name": "APIP", "organism": "Human", "refseq_name": "methylthioribulose-1-phosphate dehydratase", "refseq_ac": "NP_057041", "gene_names_uniprotkb": "APIP; CGI-29", "gene_names_refseq": "APIP2; APIP; CGI-29; CGI29; MMRP19; hAPIP", "protein_names_uniprotkb": "Methylthioribulose-1-phosphate dehydratase; 4.2.1.109; APAF1-interacting protein; MTRu-1-P dehydratase; hAPIP", "protein_names_refseq": "MTRu-1-P dehydratase; methylthioribulose-1-phosphate dehydratase; probable methylthioribulose-1-phosphate dehydratase", "tax_id": 9606, "disease": "", "pathway": " (hsa:51074); (R-HSA-111458); (R-HSA-1237112); (R-HSA-9627069)", "pathway_count": 4, "publication_count": 55, "publication_id_list": "10949025;11237011;11408476;11443076;11734640;12620238;12660240;12941691;15262985;15271982;15843022;17322306;17697703;17786183;18083711;18212344;19620624;19651622;20068231;20800603;21406692;22407486;22464254;22837397;23186163;23285211;23301498;23521171;24367089;24715725;25313070;26992070;27697150;27726376;28192157;28510447;29242379;29557506;29632711;30315122;3091600;31844290;32350084;33298915;33592498;33912179;33936100;34171305;34211107;34357683;35051231;38423248;6785752;9267021;9390557", "class_list": "", "function": "APIP functions to inhibit muscle ischemic damage by binding to Apaf-1 in the Apaf-1/caspase-9 apoptosis pathway., [RefSeq, PubMed]; APIP regulated by YAP propels methionine cycle and metastasis in head and neck squamous cell carcinoma., [RefSeq, PubMed]; Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death., [UniProtKB, PubMed, PubMed, PubMed, HAMAP, PubMed, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The down-regulation of APIP and UACA expression suggests that the threshold to activate the apoptosome apparatus may be decreased in non-small cell lung cancer cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 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": "A8K9D3;Q6PJX6;Q8WVU2;Q96HK2;Q9Y318", "ec_number_list": "3.4.22.62;4.2.1.109;3.4.-.-", "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0046570 methylthioribulose 1-phosphate dehydratase activity;GO:0046872 metal ion binding;GO:0016829 lyase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0051289 protein homotetramerization;GO:0006915 apoptotic process;GO:0070269 pyroptotic inflammatory response;GO:0070372 regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q96GX9-1", "record_type": "protein" } ]