GJB1

Protein identityUniProt · HPA

UniProt accession

P08034

Gene

GJB1

Ensembl

ENSG00000169562

Chromosome

X

Canonical length

283 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

283 residues, UniProt reviewed canonical sequence.

>P08034|GJB1
     1  MNWTGLYTLL SGVNRHSTAI GRVWLSVIFI FRIMVLVVAA ESVWGDEKSS FICNTLQPGC
    61  NSVCYDQFFP ISHVRLWSLQ LILVSTPALL VAMHVAHQQH IEKKMLRLEG HGDPLHLEEV
   121  KRHKVHISGT LWWTYVISVV FRLLFEAVFM YVFYLLYPGY AMVRLVKCDV YPCPNTVDCF
   181  VSRPTEKTVF TVFMLAASGI CIILNVAEVV YLIIRACARR AQRRSNPPSR KGSGFGHRLS
   241  PEYKQNEINK LLSEQDGSLK DILRRSPGTG AGLAEKSDRC SAC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GJB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

375 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GJB1.

Disease | AllUniProt

Conditions GJB1 is implicated in, by any mechanism.

• Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) MIM:302800
• Dejerine-Sottas syndrome (DSS) MIM:145900

Disease | GeneticClinVar

260 pathogenic / likely-pathogenic of 863 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Charcot-Marie-Tooth Neuropathy X
• Charcot-Marie-Tooth disease X-linked dominant 1
• Charcot-Marie-Tooth disease
• Inborn genetic diseases
• Peripheral neuropathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.49

gnomAD pLI

0.85

gnomAD missense Z

2.03

DepMap mean gene effect

0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell-cell signaling
• gap junction assembly
• nervous system development

Molecular functions

• gap junction channel activity
• identical protein binding

Cellular components

• connexin complex
• endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Connexin
• Connexin, N-terminal
• Connexin, conserved site
• Connexin, cysteine-rich domain
• Connexin, N-terminal domain superfamily
• Connexin
• Gap junction beta-1 protein (Cx32)

KeywordsUniProt

• Cell junction
• Cell membrane
• Charcot-Marie-Tooth disease
• Dejerine-Sottas syndrome
• Gap junction
• Membrane
• Neurodegeneration
• Neuropathy
• Phosphoprotein
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of GJB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CNST