Gap junction protein, alpha 1

Gap junction protein, alpha 1, 43kDa
PDB rendering based on 1r5s.
Available structures PDB 1r5s
Identifiers
Symbols	GJA1; CX43; DFNB38; GJAL; HSS; ODDD
External IDs	OMIM: 121014 MGI: 95713 HomoloGene: 136 GeneCards: GJA1 Gene
Gene Ontology Molecular function • signal transducer activity • gap junction channel activity • protein binding • ion transmembrane transporter activity • SH3 domain binding • transmembrane transporter activity • PDZ domain binding Cellular component • Golgi membrane • cytoplasm • mitochondrial outer membrane • lysosome • early endosome • multivesicular body • endoplasmic reticulum • Golgi apparatus • plasma membrane • plasma membrane • integral to plasma membrane • fascia adherens • gap junction • connexon complex • cell junction • Golgi-associated vesicle membrane • membrane raft Biological process • transport • apoptosis • muscle contraction • signal transduction • cell-cell signaling • heart development • negative regulation of cell proliferation • response to pH • vascular transport • ATP transport • cellular membrane organization • gap junction assembly • ion transmembrane transport • positive regulation of I-kappaB kinase/NF-kappaB cascade • response to peptide hormone stimulus • positive regulation of protein catabolic process • neuron projection morphogenesis • protein oligomerization • regulation of calcium ion transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2697	14609
Ensembl	ENSG00000152661	ENSMUSG00000050953
UniProt	P17302	Q544I7
RefSeq (mRNA)	NM_000165.3	NM_010288.3
RefSeq (protein)	NP_000156.1	NP_034418.1
Location (UCSC)	Chr 6: 121.76 – 121.77 Mb	Chr 10: 56.1 – 56.11 Mb
PubMed search	[1]	[2]

Connexin43
connexin 43 carboxyl terminal domain
Identifiers
Symbol	Connexin43
Pfam	PF03508
InterPro	IPR013124
TCDB	1.A.24
Available protein structures: Pfam structures PDB RCSB PDB; PDBe PDBsum structure summary

Gap junction alpha-1 protein is a protein that in humans is encoded by the GJA1 gene.^[1][2] It is also known as connexin 43.

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. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations.^[3]

It may be associated with Hallermann–Streiff syndrome.^[4]

Interactions

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

• Connexin
• Hypoplastic left heart syndrome

References

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. ^ "Entrez Gene: GJA1 gap junction protein, alpha 1, 43kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2697. 
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, Scott J; Malik Sundeep, Akaike Masashi, Lerner-Marmarosh Nicole, Yan Chen, Lee Jiing-Dwan, Abe Jun-Ichi, Yang Jay (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. (United States) 278 (20): 18682–8. doi:10.1074/jbc.M213283200. ISSN 0021-9258. PMID 12637502. 
6. ^ Schubert, Anne-Lane; Schubert William, Spray David C, Lisanti Michael P (May. 2002). "Connexin family members target to lipid raft domains and interact with caveolin-1". Biochemistry (United States) 41 (18): 5754–64. doi:10.1021/bi0121656. ISSN 0006-2960. PMID 11980479. 
7. ^ Giepmans, B N; Moolenaar W H (1998). "The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein". Curr. Biol. (ENGLAND) 8 (16): 931–4. doi:10.1016/S0960-9822(07)00375-2. ISSN 0960-9822. PMID 9707407. 
8. ^ Cooper, Cynthia D; Lampe Paul D (Nov. 2002). "Casein kinase 1 regulates connexin-43 gap junction assembly". J. Biol. Chem. (United States) 277 (47): 44962–8. doi:10.1074/jbc.M209427200. ISSN 0021-9258. 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. PMID 14681016. http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14681016. 

Further reading

• Andrew L Harris and Darren Locke (2009). Connexins, A Guide. New York: Springer. pp. 574. ISBN 978-1-934115-46-6. http://www.springer.com/978-1-934115-46-6. 
• Saffitz JE, Laing JG, Yamada KA (2000). "Connexin expression and turnover : implications for cardiac excitability.". Circ. Res. 86 (7): 723–8. PMID 10764404.