Protein-coding gene in the species Homo sapiens
GJB5 |
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Identifiers |
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Aliases | GJB5, CX31.1, gap junction protein beta 5 |
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External IDs | OMIM: 604493; MGI: 95723; HomoloGene: 3858; GeneCards: GJB5; OMA:GJB5 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 1 (human)[1] |
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| Band | 1p34.3 | Start | 34,755,047 bp[1] |
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End | 34,758,512 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 4 (mouse)[2] |
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| Band | 4 D2.2|4 61.51 cM | Start | 127,248,602 bp[2] |
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End | 127,251,974 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - skin of abdomen
- skin of leg
- skin of arm
- skin of thigh
- gums
- gingival epithelium
- epithelium of esophagus
- olfactory zone of nasal mucosa
- oral cavity
- palpebral conjunctiva
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| Top expressed in | - skin of external ear
- blastocyst
- lip
- skin of back
- tail of embryo
- skin of abdomen
- decidua
- epidermis
- morula
- hair follicle
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| More reference expression data |
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BioGPS | |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 1: 34.76 – 34.76 Mb | Chr 4: 127.25 – 127.25 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000189280 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b "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. hdl:2318/104855. 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.
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