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

Gene ID: 2705, updated on 5-Mar-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
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Genomic context

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Location:
Xq13.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (71215239..71225516)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (69649327..69659597)
105.20220307 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
  • 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. Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report. Huang X, et al. Medicine (Baltimore), 2022 Nov 11. PMID 36397455, Free PMC Article
  2. A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease. Li M, et al. Mol Genet Genomic Med, 2023 Mar. PMID 36394156, Free PMC Article
  3. Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway. Li H, et al. Oncol Rep, 2022 Sep. PMID 35894130, Free PMC Article
  4. GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali. Yalcouyé A, et al. J Peripher Nerv Syst, 2022 Jun. PMID 35383424, Free PMC Article
  5. Cysteine residues in the C-terminal tail of connexin32 regulate its trafficking. Ray A, et al. Cell Signal, 2021 Sep. PMID 34146657

See all (242) 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_2023_10

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

Gene LinkOut

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