GJB5
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]
GJB5 | |||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Identifiers | |||||||||||||||||||||||||
Aliases | GJB5, CX31.1, gap junction protein beta 5 | ||||||||||||||||||||||||
External IDs | OMIM: 604493 MGI: 95723 HomoloGene: 3858 GeneCards: GJB5 | ||||||||||||||||||||||||
| |||||||||||||||||||||||||
| |||||||||||||||||||||||||
Orthologs | |||||||||||||||||||||||||
Species | Human | Mouse | |||||||||||||||||||||||
Entrez | |||||||||||||||||||||||||
Ensembl | |||||||||||||||||||||||||
UniProt | |||||||||||||||||||||||||
RefSeq (mRNA) | |||||||||||||||||||||||||
RefSeq (protein) | |||||||||||||||||||||||||
Location (UCSC) | Chr 1: 34.76 – 34.76 Mb | Chr 4: 127.35 – 127.36 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
Wikidata | |||||||||||||||||||||||||
|
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
- GRCh38: Ensembl release 89: ENSG00000189280 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000042357 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "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" (PDF). 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. S2CID 841727.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.