GJB5

GJB5
Identifiers
AliasesGJB5, CX31.1, gap junction protein beta 5
External IDsMGI: 95723 HomoloGene: 3858 GeneCards: GJB5
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p34.3Start34,755,047 bp[1]
End34,758,512 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

2709

14622

Ensembl

ENSG00000189280

ENSMUSG00000042357

UniProt

O95377

Q02739

RefSeq (mRNA)

NM_005268

NM_010291

RefSeq (protein)

NP_005259

NP_034421

Location (UCSC)Chr 1: 34.76 – 34.76 MbChr 4: 127.35 – 127.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gap junction beta-5 protein (GJB5), also known as connexin-31.1 (Cx31.1), is a protein that in humans is encoded by the GJB5 gene.[5]

Function

Gap junctions are conduits that allow the direct cell-to-cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication. Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000189280 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042357 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: gap junction protein".

Further reading

  • Canova C, Hashibe M, Simonato L, et al. (2009). "Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries: the ARCAGE project". Cancer Res. 69 (7): 2956–65. doi:10.1158/0008-5472.CAN-08-2604. PMID 19339270.
  • Richard G, Smith LE, Bailey RA, et al. (1998). "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis". Nat. Genet. 20 (4): 366–9. doi:10.1038/3840. PMID 9843209.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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