Format

Send to:

Choose Destination

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

Gene ID: 2705, updated on 7-Jun-2020

Summary

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
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

Genomic context

See GJB1 in Genome Data Viewer
Location:
Xq13.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (71215212..71225516)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70435062..70445065)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11812 Neighboring gene uncharacterized LOC107985688 Neighboring gene zinc finger MYM-type containing 3 Neighboring gene uncharacterized LOC105373247 Neighboring gene non-POU domain containing octamer binding

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gap junction channel activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epididymis development IEA
Inferred from Electronic Annotation
more info
 
gap junction assembly TAS
Traceable Author Statement
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
purine ribonucleotide transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_000166.6NP_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
    P08034
    Related
    ENSP00000354900.6, ENST00000361726.7
    Conserved Domains (1) summary
    pfam00029
    Location:2214
    Connexin; Connexin
  2. NM_001097642.2NP_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)
    BC039198, BI764356, CB155778
    Consensus CDS
    CCDS14408.1
    UniProtKB/Swiss-Prot
    P08034
    Related
    ENSP00000495960.1, ENST00000647424.1
    Conserved Domains (1) summary
    pfam00029
    Location:2214
    Connexin; Connexin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    71215212..71225516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530907.2XP_011529209.1  gap junction beta-1 protein isoform X1

    See identical proteins and their annotated locations for XP_011529209.1

    UniProtKB/Swiss-Prot
    P08034
    Related
    ENSP00000494596.1, ENST00000646835.1
    Conserved Domains (1) summary
    pfam00029
    Location:2214
    Connexin; Connexin
Support Center