{ "uniprot_canonical_ac": "P70689-1", "uniprot_ac": "P70689", "uniprot_id": "CXB6_MOUSE", "mass": { "chemical_mass": 30366.0, "monoisotopic_mass": 30366.0 }, "refseq": { "ac": "NP_001010937", "name": "gap junction beta-6 protein", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010937" }, "gene_names": [ { "name": "Gjb6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P70689", "id": "P70689" }, { "name": "Cx30; Cxnf; D14Bwg0506e", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010937", "id": "NP_001010937" }, { "name": "Cxn-30", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P70689", "id": "P70689" }, { "name": "Gjb6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010937", "id": "NP_001010937" } ], "protein_names": [ { "name": "Gap junction beta-6 protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P70689" }, { "name": "Connexin-30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P70689" }, { "name": "Cx30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P70689" }, { "name": "connexin-30; gap junction membrane channel protein beta 6; connexin f", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010937", "id": "NP_001010937" }, { "name": "gap junction beta-6 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010937", "id": "NP_001010937" } ], "function": [ { "annotation": "Connexin 30 Deficiency Ameliorates Disease Progression at the Early Phase in a Mouse Model of Amyotrophic Lateral Sclerosis by Suppressing Glial Inflammation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001010937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010937" }, { "database": "PubMed", "id": "36555685", "url": "https://glygen.org/publication/PubMed/36555685" } ] }, { "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": "P70689", "url": "https://www.uniprot.org/uniprot/P70689#function" } ] }, { "annotation": "Upregulation of astroglial connexin 30 impairs hippocampal synaptic activity and recognition memory. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001010937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010937" }, { "database": "PubMed", "id": "37040348", "url": "https://glygen.org/publication/PubMed/37040348" } ] } ], "disease": [ { "disease_id": "DOID:0110475", "recommended_name": { "id": "DOID:0110475", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110475", "name": "autosomal recessive nonsyndromic deafness 1A", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12." }, "synonyms": [ { "id": "DOID:0110475", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110475", "name": "DFNB1A", "description": "" }, { "id": "DOID:0110475", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110475", "name": "autosomal recessive deafness 1A", "description": "" }, { "id": "MONDO:0009076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009076", "name": "autosomal recessive nonsyndromic hearing loss 1A", "description": "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. 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"name": "deafness, autosomal recessive 1A", "description": "" }, { "id": "MONDO:0009076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009076", "name": "deafness, autosomal recessive 1a, autosomal recessive, digenic dominant", "description": "" }, { "id": "MONDO:0009076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009076", "name": "deafness, autosomal recessive type 1A", "description": "" }, { "id": "MONDO:0009076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009076", "name": "deafness, digenic, GJB2/GJB3", "description": "" }, { "id": "MONDO:0009076", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009076", "name": "deafness, digenic, GJB2/GJB6", "description": "" }, { "id": "MIM:220290", "resource": "MIM", "url": "https://www.omim.org/entry/220290", "name": "Deafness, autosomal recessive, 1A", "description": "Deafness, autosomal recessive, 1A" } ], "evidence": [ { "id": "0110475", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110475" } ] }, { "disease_id": "DOID:0110476", "recommended_name": { "id": "DOID:0110476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110476", "name": "autosomal recessive nonsyndromic deafness 1B", "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12." }, "synonyms": [ { "id": "DOID:0110476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110476", "name": "DFNB1B", "description": "" }, { "id": "DOID:0110476", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110476", "name": "autosomal recessive deafness 1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012977", "name": "autosomal recessive nonsyndromic deafness 1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "autosomal recessive nonsyndromic deafness caused by mutation in GJB6", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "autosomal recessive nonsyndromic deafness type 1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "deafness, autosomal recessive 1B", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "deafness, autosomal recessive 1b", "description": "" }, { "id": "MONDO:0012977", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012977", "name": "deafness, autosomal recessive type 1B", "description": "" }, { "id": "MIM:612645", "resource": "MIM", "url": "https://www.omim.org/entry/612645", "name": "Deafness, autosomal recessive, 1B", "description": "Deafness, autosomal recessive, 1B" } ], "evidence": [ { "id": "0110476", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110476" } ] }, { "disease_id": "DOID:0110565", "recommended_name": { "id": "DOID:0110565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110565", "name": "autosomal dominant nonsyndromic deafness 3B", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12." }, "synonyms": [ { "id": "DOID:0110565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110565", "name": "DFNA3B", "description": "" }, { "id": "DOID:0110565", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110565", "name": "autosomal dominant deafness 3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "autosomal dominant nonsyndromic hearing loss 3B", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "DFNA3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "GJB6 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "autosomal dominant deafness 3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "autosomal dominant nonsyndromic deafness 3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "autosomal dominant nonsyndromic deafness caused by mutation in GJB6", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "autosomal dominant nonsyndromic deafness type 3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "deafness, autosomal dominant 3B", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "deafness, autosomal dominant 3b", "description": "" }, { "id": "MONDO:0012975", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012975", "name": "deafness, 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"http://disease-ontology.org/term/DOID:14693", "name": "ectodermal dysplasia 2, Clouston type", "description": "" }, { "id": "DOID:14693", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14693", "name": "hidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Clouston syndrome", "description": "Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis." }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Clouston syndrome", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Clouston's hidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Clouston's syndrome", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "hidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "hidrotic ectodermal dysplasia syndrome", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Clouston hidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ED2", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "Patel Bixler syndrome", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "alopecia, dysplastic nails, palmar and plantar hyperkeratosis", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "autosomal dominant hidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ectodermal dysplasia 2, Clouston type", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ectodermal dysplasia, hidrotic", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ectodermal dysplasia, hidrotic, 2", "description": "" }, { "id": "MONDO:0007510", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007510", "name": "ectodermal dysplasia, 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"DOID:1824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1824", "name": "status epilepticus", "description": "" }, "synonyms": [ { "id": "DOID:1824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1824", "name": "Grand mal status", "description": "" } ], "evidence": [ { "id": "1824", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ] }, { "disease_id": "DOID:2121", "recommended_name": { "id": "DOID:2121", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2121", "name": "ectodermal dysplasia", "description": "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings." }, "synonyms": [ { "id": "DOID:2121", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2121", "name": "Congenital ectodermal defect", "description": "" }, { "id": "DOID:2121", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2121", "name": "Congenital ectodermal dysplasia", "description": "" }, { "id": "MONDO:0010585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010585", "name": "X-linked hypohidrotic ectodermal dysplasia", "description": "An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin." }, { "id": "MONDO:0010585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010585", "name": "Christ-Siemens-Touraine syndrome", "description": "" }, { "id": "MONDO:0010585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010585", "name": "X-linked anhidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0010585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010585", "name": "X-linked hypohidrotic ectodermal dysplasia", "description": "" }, { "id": "MONDO:0010585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010585", "name": "XHED", "description": "" }, { "id": "MONDO:0010585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010585", "name": "ectodermal dysplasia 1, hypohidrotic, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010585", "name": "hypohidrotic ectodermal dysplasia, X-linked", "description": "" }, { "id": "MONDO:0010585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010585", "name": "CST syndrome", "description": "" }, { "id": "MONDO:0010585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010585", "name": "Eda1", "description": "" }, { "id": "MONDO:0010585", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010585", "name": "Xlhed", "description": "" }, { "id": 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"MDWGTLHTVIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETARKFIRGEKRNEFKDLEDIKRQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTVFMISASVICMLLNVAELCYLLLKLCFRRSKRTQAQRNHPNHALKESKQNEMNELISDSGQNAITSFPS", "length": 261, "header": "sp|P70689-1|CXB6_MOUSE Isoform 1 of Gap junction beta-6 protein OS=Mus musculus OX=10090 GN=Gjb6 PE=1 SV=1 CANONICAL=P70689-1" }, "isoforms": [ { "isoform_ac": "E0CX48-1", "url": "", "sequence": { "sequence": "MDWGTLHTVIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETARKFIRGEKRNEFKDLEDIKRQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDP", "length": 173, "header": "tr|E0CX48-1|E0CX48_MOUSE Computationally mapped isoform of Gap junction protein, beta 6 OS=Mus musculus OX=10090 GN=Gjb6 PE=1 SV=1 CANONICAL=P70689-1" }, "locus": { "chromosome": "14", "start_pos": 57362259, "end_pos": 57361741, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000160703.2", "url": "https://www.ensembl.org/id/ENSMUST00000160703.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000124927.2", "url": "https://www.ensembl.org/id/ENSMUSP00000124927.2" } ] } }, { "isoform_ac": "P70689-1", "url": "", "sequence": { "sequence": "MDWGTLHTVIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETARKFIRGEKRNEFKDLEDIKRQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTVFMISASVICMLLNVAELCYLLLKLCFRRSKRTQAQRNHPNHALKESKQNEMNELISDSGQNAITSFPS", "length": 261, "header": "sp|P70689-1|CXB6_MOUSE Isoform 1 of Gap junction beta-6 protein OS=Mus musculus OX=10090 GN=Gjb6 PE=1 SV=1 CANONICAL=P70689-1" }, "locus": { "chromosome": "14", "start_pos": 57362259, "end_pos": 57361477, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000039380", "url": "https://www.ensembl.org/id/ENSMUST00000039380" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000035630", "url": "https://www.ensembl.org/id/ENSMUSP00000035630" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 257, "start_aa": "Thr", "end_pos": 257, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr257", "evidence": [ { "id": "P70689", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70689" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 261, "start_aa": "Ser", "end_pos": 261, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser261", "evidence": [ { "id": "P70689", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P70689" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P70689", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70689" }, { "id": "34678516", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34678516" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "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": "P70689", "url": "https://www.uniprot.org/uniprot/P70689" } ], "reference": [ { "type": "PubMed", "id": "19864490", "url": "https://glygen.org/publication/PubMed/19864490" } ] }, { "title": "Age-related loss of neural stem cell O-GlcNAc promotes a glial fate switch through STAT3 activation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2020", "authors": "White CW 3rd, Fan X, Maynard JC, Wheatley EG, Bieri G, Couthouis J, Burlingame AL, Villeda SA", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "P70689", "url": "https://oglcnac.org/atlas/detail/P70689" } ], "reference": [ { "type": "PubMed", "id": "32848054", "url": "https://glygen.org/publication/PubMed/32848054" } ] }, { "title": "Novel Antibodies for the Simple and Efficient Enrichment of Native O-GlcNAc Modified Peptides.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Burt RA, Dejanovic B, Peckham HJ, Lee KA, Li X, Ounadjela JR, Rao A, Malaker SA, Carr SA, Myers SA", "evidence": [ { "database": "O-GlcNAc Database", "id": "P70689", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P70689" }, { "database": "O-GlcNAc Atlas", "id": "P70689", "url": "https://oglcnac.org/atlas/detail/P70689" } ], "reference": [ { "type": "PubMed", "id": "34678516", "url": "https://glygen.org/publication/PubMed/34678516" } ] }, { "title": "Connexin 30 Deficiency Ameliorates Disease Progression at the Early Phase in a Mouse Model of Amyotrophic Lateral Sclerosis by Suppressing Glial Inflammation.", "journal": "International journal of molecular sciences", "date": "2022-12-16", "authors": "Hashimoto Yu, Yamasaki Ryo, Ko Senri, Matsuo Eriko, Kobayakawa Yuko, Masaki Katsuhisa, Matsuse Dai, Isobe Noriko", "evidence": [ { "database": "RefSeq", "id": "NP_001010937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010937" } ], "reference": [ { "type": "PubMed", "id": "36555685", "url": "https://glygen.org/publication/PubMed/36555685" } ] }, { "title": "Upregulation of astroglial connexin 30 impairs hippocampal synaptic activity and recognition memory.", "journal": "PLoS biology", "date": "2023-04", "authors": "Hardy El\u00e9onore, Moulard Julien, Walter Augustin, Ezan Pascal, Bemelmans Alexis-Pierre, Mouthon Franck, Charv\u00e9riat Mathieu, Rouach Nathalie, Rancillac Armelle", "evidence": [ { "database": "RefSeq", "id": "NP_001010937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010937" } ], "reference": [ { "type": "PubMed", "id": "37040348", "url": "https://glygen.org/publication/PubMed/37040348" } ] }, { "title": "Molecular cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin.", "journal": "J. Biol. Chem.", "date": "1996", "authors": "Chen Y., Chang Y.S., Dahl E., Lalley P.A., Willecke K., Manthey D., Nicholson B.J., Schwarz H.-J.", "evidence": [ { "database": "UniProtKB", "id": "P70689", "url": "https://www.uniprot.org/uniprot/P70689" } ], "reference": [ { "type": "PubMed", "id": "8663509", "url": "https://glygen.org/publication/PubMed/8663509" } ] } ], "pathway": [ { "id": "mmu:14623", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:14623", "resource": "KEGG Pathway" }, { "id": "R-MMU-190861", "name": "Gap junction assembly", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-190861", "resource": "Reactome", "description": "Gap junction assembly" } ], "orthologs": [ { "uniprot_canonical_ac": "O95452-1", "protein_name": "Gap junction beta-6 protein", "gene_name": "GJB6", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETTRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVCFRRSKRAQTQKNHPNHALKESKQNEMNELISDSGQNAITGFPS", "length": 261 }, "evidence": [ { "id": "45225739", "url": "http://www.informatics.jax.org/homology/45225739", "database": "MGI" }, { "id": "P70689", "url": "https://omabrowser.org/oma/group/P70689/", "database": "OMA" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q6AZ42-1", "protein_name": "Gap junction protein", "gene_name": "Gjb6", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDWGTLHTVIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVWGDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHETARKFIRGEKRNEFKDLEDIKRQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNGYHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTVFMISASVICMLLNVAELCYLLLKLCFRRSKRTQAQRNHPNHALKESKQNEMNELISDSGQNAITSFPS", "length": 261 }, "evidence": [ { "id": "45225739", "url": "http://www.informatics.jax.org/homology/45225739", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P70689", "url": "https://www.uniprot.org/uniprot/P70689" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P70689", "url": "https://www.uniprot.org/uniprot/P70689" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P70689", "url": "https://www.uniprot.org/uniprot/P70689" } ], "pmid": "" }, { "name": "gap junction", "id": "GO:0005921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005921", "evidence": [ { "database": "UniProtKB", "id": "P70689", "url": "https://www.uniprot.org/uniprot/P70689" } ], "pmid": "" }, { "name": "connexin complex", "id": "GO:0005922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005922", "evidence": [ { "database": "UniProtKB", "id": "P70689", "url": "https://www.uniprot.org/uniprot/P70689" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P70689", "url": "https://www.uniprot.org/uniprot/P70689" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P70689", "url": "https://www.uniprot.org/uniprot/P70689" } ], "pmid": "" }, { "name": "response to 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