{ "uniprot_canonical_ac": "P28230-1", "uniprot_ac": "P28230", "uniprot_id": "CXB1_MOUSE", "mass": { "chemical_mass": 32004.0, "monoisotopic_mass": 32004.0 }, "refseq": { "ac": "NP_001289425", "name": "gap junction beta-1 protein", "summary": "This gene is a member of the gap junction protein (connexin) family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of ions and small molecules between cells. Mutations in a similar gene in human cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Oct 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425" }, "gene_names": [ { "name": "Gjb1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P28230", "id": "P28230" }, { "name": "Cnx32; connexin-32; Cx32; Cxng", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425", "id": "NP_001289425" }, { "name": "Cxn-32", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P28230", "id": "P28230" }, { "name": "Gjb1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425", "id": "NP_001289425" } ], "protein_names": [ { "name": "Gap junction beta-1 protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P28230" }, { "name": "Connexin-32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28230" }, { "name": "Cx32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28230" }, { "name": "gap junction beta-1 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425", "id": "NP_001289425" }, { "name": "gap junction membrane channel protein beta 1; connexin-43; connexin 32; connexin g", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425", "id": "NP_001289425" } ], "function": [ { "annotation": "Connexin32 Promotes the Activation of Foxo3a to Ameliorate Diabetic Nephropathy via Inhibiting the Polyubiquitination and Degradation of Sirt1.", "evidence": [ { "database": "RefSeq", "id": "NP_001289425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425" }, { "database": "PubMed", "id": "36601735", "url": "https://glygen.org/publication/PubMed/36601735" } ] }, { "annotation": "Connexin32 ameliorates epithelial-to-mesenchymal-transition in diabetic renal tubular via inhibiting NOX4.", "evidence": [ { "database": "RefSeq", "id": "NP_001289425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425" }, { "database": "PubMed", "id": "35051590", "url": "https://glygen.org/publication/PubMed/35051590" } ] }, { "annotation": "One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230#function" } ] }, { "annotation": "This gene is a member of the gap junction protein (connexin) family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of ions and small molecules between cells. Mutations in a similar gene in human cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Oct 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001289425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425" } ] } ], "disease": [ { "disease_id": "DOID:0110209", "recommended_name": { "id": "DOID:0110209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110209", "name": "Charcot-Marie-Tooth disease X-linked dominant 1", "description": "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13." }, "synonyms": [ { "id": "DOID:0110209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110209", "name": "CMT1X", "description": "" }, { "id": "DOID:0110209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110209", "name": "CMTX1", "description": "" }, { "id": "DOID:0110209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110209", "name": "Charcot-Marie-Tooth neuropathy X-linked dominant 1", "description": "" }, { "id": "DOID:0110209", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110209", "name": "X-linked Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease X-linked dominant 1", "description": "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMT2", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMT2, formerly", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMTX", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "HMSN, X-linked", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "hereditary motor and sensory neuropathy, X-linked", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMTX 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMTX1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot Marie Tooth disease X-linked 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease X-linked dominant 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease X-linked dominant type 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease type X caused by mutation in GJB1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease, X-linked dominant, 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease, X-linked dominant, type 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth disease, X-linked, 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth neuropathy X type 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth neuropathy X-linked dominant 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth neuropathy, X-linked, 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "GJB1 Charcot-Marie-Tooth disease type X", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "X-linked Charcot-Marie-Tooth disease type 1", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "CMT1X", "description": "" }, { "id": "MONDO:0010549", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010549", "name": "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked", "description": "" }, { "id": "MIM:302800", "resource": "MIM", "url": "https://www.omim.org/entry/302800", "name": "Charcot-Marie-Tooth disease, X-linked dominant, 1", "description": "Charcot-Marie-Tooth disease, X-linked dominant, 1" } ], "evidence": [ { "id": "0110209", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110209" } ] }, { "disease_id": "DOID:13619", "recommended_name": { "id": "DOID:13619", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver." }, "synonyms": [ { "id": "DOID:13619", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13619", "name": "extrahepatic biliary Stasis", "description": "" }, { "id": "DOID:13619", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13619", "name": "extrahepatic obstructive biliary disease", "description": "" } ], "evidence": [ { "id": "13619", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ] }, { "disease_id": "DOID:7188", "recommended_name": { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues." }, "synonyms": [ { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Chronic Lymphocytic Thyroiditis", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto thyroiditis", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto's Disease", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto's syndrome", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Hashimoto's thyroiditis", "description": "" }, { "id": "DOID:7188", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7188", "name": "Lymphocytic Thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto thyroiditis", "description": "An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism." }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "lymphocytic thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto disease", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto hypothyroidism", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto thyroiditis", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's disease", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto thyroiditides", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's struma", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimoto's syndromes", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimotos disease", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Hashimotos syndrome", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "Ht", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "lymphocytic thyroiditides, chronic", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "lymphocytic thyroiditis, chronic", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "syndrome, Hashimoto's", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "syndromes, Hashimoto's", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroid autoantibodies", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroiditides, Hashimoto", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroiditides, chronic lymphocytic", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroiditis, Hashimoto", "description": "" }, { "id": "MONDO:0007699", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007699", "name": "thyroiditis, chronic lymphocytic", "description": "" } ], "evidence": [ { "id": "7188", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Gjb1", "url": "https://www.uniprot.org/uniprot/P28230", "locus": { "chromosome": "X", "start_pos": 100429235, "end_pos": 100419984, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000047797", "url": "https://www.ensembl.org/id/ENSMUSG00000047797" } ] } } ], "crossref": [ { "id": "ENSMUSG00000047797", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000047797", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "14618", "url": "https://www.ncbi.nlm.nih.gov/gene/14618", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "P28230", "url": "https://www.ebi.ac.uk/intact/interactors/id:P28230*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000500", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000500", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002267", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002267", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013092", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013092", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017990", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017990", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019570", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019570", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038359", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038359", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:14618", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:14618", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "95719", "url": "http://www.informatics.jax.org/marker/MGI:95719", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "IYPGYQM", "url": "https://omabrowser.org/oma/group/IYPGYQM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5301774at2759", "url": "http://www.orthodb.org/?query=5301774at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11984", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11984:SF20", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11984:SF20", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00029", "url": "http://pfam.xfam.org/family/PF00029", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P28230", "url": "http://purl.obolibrary.org/obo/PR_P28230", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-190704", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-190704", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001289425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P28230-1", "url": "https://www.uniprot.org/uniprot/P28230-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDHFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCEAFPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC", "length": 283, "header": "sp|P28230-1|CXB1_MOUSE Isoform 1 of Gap junction beta-1 protein OS=Mus musculus OX=10090 GN=Gjb1 PE=1 SV=3 CANONICAL=P28230-1" }, "isoforms": [ { "isoform_ac": "P28230-1", "url": "", "sequence": { "sequence": "MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDHFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCEAFPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC", "length": 283, "header": "sp|P28230-1|CXB1_MOUSE Isoform 1 of Gap junction beta-1 protein OS=Mus musculus OX=10090 GN=Gjb1 PE=1 SV=3 CANONICAL=P28230-1" }, "locus": { "chromosome": "X", "start_pos": 100428622, "end_pos": 100427774, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000119190", "url": "https://www.ensembl.org/id/ENSMUST00000119190" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000113516", "url": "https://www.ensembl.org/id/ENSMUSP00000113516" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 233, "end_pos": 233, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "site_lbl": "Ser233" }, { "start_pos": 258, "end_pos": 258, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "iPTMnet", "id": "P28230", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28230" } ], "site_lbl": "Ser258" }, { "start_pos": 266, "end_pos": 266, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "iPTMnet", "id": "P28230", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28230" } ], "site_lbl": "Ser266" }, { "start_pos": 277, "end_pos": 277, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "site_lbl": "Ser277" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Connexins are critical for normal myelination in the CNS.", "journal": "J. Neurosci.", "date": "2003", "authors": "Menichella DM, Goodenough DA, Sirkowski E, Scherer SS, Paul DL", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "reference": [ { "type": "PubMed", "id": "12843301", "url": "https://glygen.org/publication/PubMed/12843301" } ] }, { "title": "Molecular cloning of mouse connexins26 and -32: similar genomic organization but distinct promoter sequences of two gap junction genes.", "journal": "Eur. J. Cell Biol.", "date": "1992", "authors": "Hennemann H, Kozjek G, Dahl E, Nicholson B, Willecke K", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "reference": [ { "type": "PubMed", "id": "1322820", "url": "https://glygen.org/publication/PubMed/1322820" } ] }, { "title": "Specific phosphopeptide enrichment with immobilized titanium ion affinity chromatography adsorbent for phosphoproteome analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zhou H, Ye M, Dong J, Han G, Jiang X, Wu R, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" }, { "database": "iPTMnet", "id": "P28230", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28230" } ], "reference": [ { "type": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" } ] }, { "title": "Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins.", "journal": "Hum. Mol. Genet.", "date": "2010", "authors": "del Castillo FJ, Cohen-Salmon M, Charollais A, Caille D, Lampe PD, Chavrier P, Meda P, Petit C", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "reference": [ { "type": "PubMed", "id": "19864490", "url": "https://glygen.org/publication/PubMed/19864490" } ] }, { "title": "Developmental regulation of gap junction gene expression during mouse embryonic development.", "journal": "Dev. Biol.", "date": "1991", "authors": "Nishi M., Gilula N.B., Kumar N.M.", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "reference": [ { "type": "PubMed", "id": "2060697", "url": "https://glygen.org/publication/PubMed/2060697" } ] }, { "title": "Connexin32 ameliorates epithelial-to-mesenchymal-transition in diabetic renal tubular via inhibiting NOX4.", "journal": "Pharmacological research", "date": "2022", "authors": "Sun X, Xiao H, Li S, Chen R, Lin Z, Yang Y, Chen Z, Deng L, Huang H", "evidence": [ { "database": "RefSeq", "id": "NP_001289425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425" } ], "reference": [ { "type": "PubMed", "id": "35051590", "url": "https://glygen.org/publication/PubMed/35051590" } ] }, { "title": "Connexin32 Promotes the Activation of Foxo3a to Ameliorate Diabetic Nephropathy via Inhibiting the Polyubiquitination and Degradation of Sirt1.", "journal": "Antioxidants & redox signaling", "date": "2023-08", "authors": "Li Shanshan, Xiao Haiming, Sun Xiaohong, Chen Zhiquan, Lin Zeyuan, Li Chuting, Zeng Jingran, Xu Zhanchi, Cheng Yuanyuan, Huang Heqing", "evidence": [ { "database": "RefSeq", "id": "NP_001289425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289425" } ], "reference": [ { "type": "PubMed", "id": "36601735", "url": "https://glygen.org/publication/PubMed/36601735" } ] } ], "pathway": [ { "id": "mmu:14618", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:14618", "resource": "KEGG Pathway" }, { "id": "R-MMU-190704", "name": "Oligomerization of connexins into connexons", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-190704", "resource": "Reactome", "description": "Oligomerization of connexins into connexons" } ], "orthologs": [ { "uniprot_canonical_ac": "P08033-1", "protein_name": "Gap junction beta-1 protein", "gene_name": "Gjb1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDHFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCEAFPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC", "length": 283 }, "evidence": [ { "id": "45224720", "url": "http://www.informatics.jax.org/homology/45224720", "database": "MGI" }, { "id": "P28230", "url": "https://omabrowser.org/oma/group/P28230/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P08034-1", "protein_name": "Gap junction beta-1 protein", "gene_name": "GJB1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLSPEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC", "length": 283 }, "evidence": [ { "id": "45224720", "url": "http://www.informatics.jax.org/homology/45224720", "database": "MGI" }, { "id": "P28230", "url": "https://omabrowser.org/oma/group/P28230/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "pmid": "" }, { "name": "lateral plasma membrane", "id": "GO:0016328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016328", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": 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"https://www.uniprot.org/uniprot/P28230" } ], "pmid": "" }, { "name": "purine ribonucleotide transport", "id": "GO:0015868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015868", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "pmid": "" }, { "name": "epididymis development", "id": "GO:1905867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905867", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P28230", "url": "https://www.uniprot.org/uniprot/P28230" } ], "pmid": "" }, { "name": "gap junction channel activity", "id": "GO:0005243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005243", "evidence": [ { "database": 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