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

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; 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

Location:: Xq13.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (71215239..71225516)
RS_2023_03	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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
Connexin expression decreases during adipogenic differentiation of human adipose-derived mesenchymal stem cells.
Title: Connexin expression decreases during adipogenic differentiation of human adipose-derived mesenchymal stem cells.
Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Title: Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.

Submit: New GeneRIF Correction See all GeneRIFs (148)

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

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease X-linked dominant 1 MedGen: C0393808 OMIM: 302800 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview, GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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	PubMed
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

NG_008357.1 RefSeqGene

Range

5001..15305

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_245

mRNA and Protein(s)

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

P08034, Q5U0S4

UniProtKB/TrEMBL

A0A654ICJ7

Related

ENSP00000354900.6, ENST00000361726.7

Conserved Domains (1) summary

pfam00029
Location:2 → 214

Connexin
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

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_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

71215239..71225516

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

P08034, Q5U0S4

UniProtKB/TrEMBL

A0A654ICJ7

Related

ENSP00000407223.2, ENST00000447581.2

Conserved Domains (1) summary

pfam00029
Location:2 → 214

Connexin

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

69649327..69659597

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q5U0S4

UniProtKB/TrEMBL

A0A654ICJ7
XM_054326827.1 → XP_054182802.1 gap junction beta-1 protein isoform X1

UniProtKB/Swiss-Prot

Q5U0S4

UniProtKB/TrEMBL

A0A654ICJ7