GJA1

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Gap junction protein, alpha 1, 43kDa
Protein GJA1 PDB 1r5s.png
PDB rendering based on 1r5s.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GJA1 ; AVSD3; CMDR; CX43; GJAL; HLHS1; HSS; ODDD
External IDs OMIM121014 MGI95713 HomoloGene136 IUPHAR: Cx43 GeneCards: GJA1 Gene
RNA expression pattern
PBB GE GJA1 201667 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2697 14609
Ensembl ENSG00000152661 ENSMUSG00000050953
UniProt P17302 P23242
RefSeq (mRNA) NM_000165 NM_010288
RefSeq (protein) NP_000156 NP_034418
Location (UCSC) Chr 6:
121.76 – 121.77 Mb
Chr 10:
56.38 – 56.39 Mb
PubMed search [1] [2]
Connexin43
PDB 1r5s EBI.jpg
connexin 43 carboxyl terminal domain
Identifiers
Symbol Connexin43
Pfam PF03508
InterPro IPR013124
TCDB 1.A.24

Gap junction alpha-1 protein (GJA1), also known as connexin 43 (Cx43) — is a protein that in humans is encoded by the GJA1 gene.[1][2]

Function[edit]

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development.[3]

Clinical significance[edit]

Mutations in this gene have been associated with oculodentodigital dysplasia, heart malformations,[3] and Hallermann–Streiff syndrome.[4]

Interactions[edit]

Gap junction protein, alpha 1 has been shown to interact with MAPK7,[5] Caveolin 1,[6] Tight junction protein 1[7] CSNK1D,[8] and PTPmu (PTPRM).[9]

See also[edit]

References[edit]

  1. ^ Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptacek LJ 2nd, Rogers RC, Nyberg-Hansen R, Opjordsmoen S, Zeller CB, Stine OC, Stalker HJ, Zori RT, Shapiro RE (Jul 1999). "Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23". Genomics 58 (1): 34–40. doi:10.1006/geno.1999.5814. PMID 10331943. 
  2. ^ Fishman GI, Eddy RL, Shows TB, Rosenthal L, Leinwand LA (Jul 1991). "The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures". Genomics 10 (1): 250–6. doi:10.1016/0888-7543(91)90507-B. PMID 1646158. 
  3. ^ a b "Entrez Gene: GJA1 gap junction protein, alpha 1, 43kDa". 
  4. ^ Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B (March 2004). "A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype". Hum. Mutat. 23 (3): 286. doi:10.1002/humu.9220. PMID 14974090. 
  5. ^ Cameron SJ, Malik S, Akaike M, Lerner-Marmarosh N, Yan C, Lee JD, Abe J, Yang J (May 2003). "Regulation of epidermal growth factor-induced connexin 43 gap junction communication by big mitogen-activated protein kinase1/ERK5 but not ERK1/2 kinase activation". J. Biol. Chem. 278 (20): 18682–8. doi:10.1074/jbc.M213283200. PMID 12637502. 
  6. ^ Schubert AL, Schubert W, Spray DC, Lisanti MP (May 2002). "Connexin family members target to lipid raft domains and interact with caveolin-1". Biochemistry 41 (18): 5754–64. doi:10.1021/bi0121656. PMID 11980479. 
  7. ^ Giepmans BN, Moolenaar WH (1998). "The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein". Curr. Biol. 8 (16): 931–4. doi:10.1016/S0960-9822(07)00375-2. PMID 9707407. 
  8. ^ Cooper CD, Lampe PD (November 2002). "Casein kinase 1 regulates connexin-43 gap junction assembly". J. Biol. Chem. 277 (47): 44962–8. doi:10.1074/jbc.M209427200. PMID 12270943. 
  9. ^ Giepmans BN, Feiken E, Gebbink MF, Moolenaar WH (2003). "Association of connexin43 with a receptor protein tyrosine phosphatase". Cell Commun. Adhes. 10 (4-6): 201–5. doi:10.1080/cac.10.4-6.201.205. PMID 14681016. 

Further reading[edit]