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    GJB1 gap junction protein beta 1 [ Homo sapiens (human) ]

    Gene ID: 2705, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GJB1provided by HGNC
    Official Full Name
    gap junction protein beta 1provided by HGNC
    Primary source
    HGNC:HGNC:4283
    See related
    Ensembl:ENSG00000169562 MIM:304040; AllianceGenome:HGNC:4283
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMTX; CX32; CMTX1
    Summary
    This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]
    Expression
    Biased expression in liver (RPKM 81.6), kidney (RPKM 24.7) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GJB1 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (71215239..71225516)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (69649327..69659597)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70435089..70445366)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905197 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:70365507-70365762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:70367337-70367883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:70367884-70368430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:70373033-70373532 Neighboring gene neuroligin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29738 Neighboring gene Sharpr-MPRA regulatory region 11812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29739 Neighboring gene uncharacterized LOC107985688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20896 Neighboring gene uncharacterized LOC105373247 Neighboring gene zinc finger MYM-type containing 3 Neighboring gene non-POU domain containing octamer binding

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular basis of calcium regulation in connexin-32 hemichannels. Gómez-Hernández JM, et al. Proc Natl Acad Sci U S A, 2003 Dec 23. PMID 14663144, Free PMC Article
    2. CMT1X phenotypes represent loss of GJB1 gene function. Shy ME, et al. Neurology, 2007 Mar 13. PMID 17353473
    3. Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease. Kennerson ML, et al. Clin Chem, 2007 Feb. PMID 17200131
    4. A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset. Vazza G, et al. Neuromuscul Disord, 2006 Dec. PMID 17052905
    5. Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability. Karadima G, et al. J Neurol, 2006 Feb. PMID 16096811

    See all (244) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury.
      Title: Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury.
    2. Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes.
      Title: Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes.
    3. A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.
      Title: A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.
    4. Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report.
      Title: Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report.
    5. GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
      Title: GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
    6. Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway.
      Title: Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway.
    7. Cysteine residues in the C-terminal tail of connexin32 regulate its trafficking.
      Title: Cysteine residues in the C-terminal tail of connexin32 regulate its trafficking.
    8. Cx32 inhibits the autophagic effect of Nur77 in SH-SY5Y cells and rat brain with ischemic stroke.
      Title: Cx32 inhibits the autophagic effect of Nur77 in SH-SY5Y cells and rat brain with ischemic stroke.
    9. Expression and Functionality of Connexin-Based Channels in Human Liver Cancer Cell Lines.
      Title: Expression and Functionality of Connexin-Based Channels in Human Liver Cancer Cell Lines.
    10. Connexin32 activates necroptosis through Src-mediated inhibition of caspase 8 in hepatocellular carcinoma.
      Title: Connexin32 activates necroptosis through Src-mediated inhibition of caspase 8 in hepatocellular carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (150)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables gap junction channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epididymis development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gap junction assembly TAS
    Traceable Author Statement
    more info
    		  
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in purine ribonucleotide transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    gap junction beta-1 protein
    Names
    GAP junction 28 kDa liver protein
    connexin-32
    gap junction protein, beta 1, 32kDa

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008357.1 RefSeqGene

      Range
      5001..15305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_245

    mRNA and Protein(s)

    1. NM_000166.6 → NP_000157.1  gap junction beta-1 protein

      See identical proteins and their annotated locations for NP_000157.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1, and is transcribed from promoter P2. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL590762, BC002805, CB155778, DA262106
      Consensus CDS
      CCDS14408.1
      UniProtKB/Swiss-Prot
      B2R8R2, D3DVV2, P08034, Q5U0S4
      UniProtKB/TrEMBL
      A0A654ICJ7
      Related
      ENSP00000354900.6, ENST00000361726.7
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 214
      Connexin

    2. NM_001097642.3 → NP_001091111.1  gap junction beta-1 protein

      See identical proteins and their annotated locations for NP_001091111.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript, and is transcribed from promoter P1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL590762, BC039198, BI764356, CB155778
      Consensus CDS
      CCDS14408.1
      UniProtKB/Swiss-Prot
      B2R8R2, D3DVV2, P08034, Q5U0S4
      UniProtKB/TrEMBL
      A0A654ICJ7
      Related
      ENSP00000495960.1, ENST00000647424.1
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 214
      Connexin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      71215239..71225516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530907.3 → XP_011529209.1  gap junction beta-1 protein isoform X1

      See identical proteins and their annotated locations for XP_011529209.1

      UniProtKB/Swiss-Prot
      B2R8R2, D3DVV2, P08034, Q5U0S4
      UniProtKB/TrEMBL
      A0A654ICJ7
      Related
      ENSP00000407223.2, ENST00000447581.2
      Conserved Domains (1) summary
      pfam00029
      Location:2 → 214
      Connexin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      69649327..69659597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326826.1 → XP_054182801.1  gap junction beta-1 protein isoform X1

      UniProtKB/Swiss-Prot
      B2R8R2, D3DVV2, P08034, Q5U0S4
      UniProtKB/TrEMBL
      A0A654ICJ7

    2. XM_054326827.1 → XP_054182802.1  gap junction beta-1 protein isoform X1

      UniProtKB/Swiss-Prot
      B2R8R2, D3DVV2, P08034, Q5U0S4
      UniProtKB/TrEMBL
      A0A654ICJ7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08034.1 GenPept UniProtKB/Swiss-Prot:P08034

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