GJA8

Last updated
GJA8
Identifiers
Aliases GJA8 , CAE, CAE1, CTRCT1, CX50, CZP1, MP70, gap junction protein alpha 8
External IDs OMIM: 600897 MGI: 99953 HomoloGene: 3857 GeneCards: GJA8
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005267

NM_008123

RefSeq (protein)

NP_005258

NP_032149

Location (UCSC) Chr 1: 147.9 – 147.91 Mb Chr 3: 96.82 – 96.83 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse
Connexin50
Identifiers
SymbolConnexin50
Pfam PF03509
InterPro IPR002266

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. [5] [6] [7] It is also known as connexin 50.

Contents

Interactions

GJA8 has been shown to interact with Tight junction protein 1. [10]

Related Research Articles

<span class="mw-page-title-main">Gap junction</span> Cell-cell junction composed of innexins or connexins,

Gap junctions are specialized intercellular connections between a multitude of animal cell-types. They directly connect the cytoplasm of two cells, which allows various molecules, ions and electrical impulses to directly pass through a regulated gate between cells.

<span class="mw-page-title-main">Connexin</span> Group of proteins which form the intermembrane channels of gap junctions

Connexins (Cx), or gap junction proteins, are structurally related transmembrane proteins that assemble to form vertebrate gap junctions. An entirely different family of proteins, the innexins, form gap junctions in invertebrates. Each gap junction is composed of two hemichannels, or connexons, which consist of homo- or heterohexameric arrays of connexins, and the connexon in one plasma membrane docks end-to-end with a connexon in the membrane of a closely opposed cell. The hemichannel is made of six connexin subunits, each of which consist of four transmembrane segments. Gap junctions are essential for many physiological processes, such as the coordinated depolarization of cardiac muscle, proper embryonic development, and the conducted response in microvasculature. For this reason, mutations in connexin-encoding genes can lead to functional and developmental abnormalities.

<span class="mw-page-title-main">GJA1</span> Protein-coding gene in humans

Gap junction alpha-1 protein (GJA1), also known as connexin 43 (Cx43), is a protein that in humans is encoded by the GJA1 gene on chromosome 6. As a connexin, GJA1 is a component of gap junctions, which allow for gap junction intercellular communication (GJIC) between cells to regulate cell death, proliferation, and differentiation. As a result of its function, GJA1 is implicated in many biological processes, including muscle contraction, embryonic development, inflammation, and spermatogenesis, as well as diseases, including oculodentodigital dysplasia (ODDD), heart malformations, and cancers.

<span class="mw-page-title-main">GJB2</span> Protein-coding gene in the species Homo sapiens

Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.

<span class="mw-page-title-main">GJA5</span> Protein-coding gene in the species Homo sapiens

Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40) — is a protein that in humans is encoded by the GJA5 gene.

<span class="mw-page-title-main">Crystallin, gamma D</span>

Gamma-crystallin D is a protein that in humans is encoded by the CRYGD gene.

<span class="mw-page-title-main">Lens fiber major intrinsic protein</span>

Lens fiber major intrinsic protein also known as aquaporin-0 is a protein that in humans is encoded by the MIP gene.

<span class="mw-page-title-main">GJB3</span> Mammalian protein found in Homo sapiens

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.

<span class="mw-page-title-main">GJA4</span> Protein-coding gene in the species Homo sapiens

Gap junction alpha-4 protein, also known as Connexin-37 or Cx37, is a protein that in humans is encoded by the GJA4 gene. This protein, like other Connexin proteins, forms connections between cells known as gap junctions. Connexin 37 can be found in many tissues including the ovary, heart, and kidney.

<span class="mw-page-title-main">GJA3</span>

Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.

<span class="mw-page-title-main">CRYGB</span>

Gamma-crystallin B is a protein that in humans is encoded by the CRYGB gene.

<span class="mw-page-title-main">GJC1</span>

Gap junction gamma-1 protein (GJC1), also known as gap junction alpha-7 protein (GJA7) and connexin 45 (Cx45) — is a protein that in humans is encoded by the GJC1 gene.

<span class="mw-page-title-main">CRYBA4</span>

Beta-crystallin A4 is a protein that in humans is encoded by the CRYBA4 gene.

<span class="mw-page-title-main">GJB4</span> Protein-coding gene in the species Homo sapiens

Gap junction beta-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the GJB4 gene.

<span class="mw-page-title-main">CRYGA</span> Protein-coding gene in the species Homo sapiens

Gamma-crystallin A is a protein that in humans is encoded by the CRYGA gene.

<span class="mw-page-title-main">LIM2</span> Protein-coding gene in the species Homo sapiens

Lens fiber membrane intrinsic protein is a protein that in humans is encoded by the LIM2 gene.

<span class="mw-page-title-main">GJD3</span>

Gap junction delta-2 (GJD2), also known as connexin-36 (Cx36) or gap junction alpha-9 (GJA9), is a protein that in humans is encoded by the GJD2 gene.

<span class="mw-page-title-main">GJD2</span>

Gap junction delta-2 protein (GJD2) also known as connexin-36 (Cx36) or gap junction alpha-9 protein (GJA9) is a protein that in humans is encoded by the GJD2 gene.

<span class="mw-page-title-main">GJC2</span> Protein-coding gene in the species Homo sapiens

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.

<span class="mw-page-title-main">GJA10</span> Protein-coding gene in the species Homo sapiens

Gap junction alpha-10 protein, also known as connexin-62 (Cx62), is a protein that in humans is encoded by the GJA10 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000121634 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049908 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S (Apr 1998). "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q". Am J Hum Genet. 62 (3): 526–32. doi:10.1086/301762. PMC   1376956 . PMID   9497259.
  6. Church RL, Wang JH, Steele E (Aug 1995). "The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping". Curr Eye Res. 14 (3): 215–21. doi:10.3109/02713689509033517. PMID   7796604.
  7. "Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa".
  8. 1 2 Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, et al. (October 2008). "Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes". N. Engl. J. Med. 359 (16): 1685–99. doi:10.1056/NEJMoa0805384. PMC   2703742 . PMID   18784092.
  9. Rong P, Wang X, Niesman I, Wu Y, Benedetti LE, Dunia I, Levy E, Gong X (January 2002). "Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation". Development. 129 (1): 167–74. doi:10.1242/dev.129.1.167. PMID   11782410.
  10. Nielsen PA, Baruch A, Shestopalov VI, Giepmans BN, Dunia I, Benedetti EL, Kumar NM (June 2003). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)". Mol. Biol. Cell. 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. PMC   194895 . PMID   12808044.

Further reading