Connexin 43

Connexin 43
	; PDB is drawn based on 1r5s.
Available structures
PDB	Search for orthologs: PDBe , RCSB
PDB ID List
Identifiers
Symbol	; AVSD3; CMDR; CX43; GJAL; HLHS1; HSS; Oddd
External id	IUPHAR : GeneCards :
Gene ontology
Function	•; •; •; •; •; •; •;
Cell component	•; •; •; •; •; •; •; •; •; •; •; •; •; •; •; •;
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	Sources: Amigo / QuickGO
RNA expression profile
Ortologists

GJA1 , or connexin 43, is a membrane protein from the family of proteins of the junction contacts of connexins , encoded by the human GJA1 gene .

Content

Structure

Connexin-43 consists of 381 amino acids , the molecular weight is 43 kDa (hence the name). Includes 4 spiral transmembrane domains, with N- and C-terminal fragments localized in the cytosol. Contains from 6 to 13 phosphorylated tyrosine and serine residues and 2 intramolecular disulfide bonds . ^[one]

Function

Connexin 43 is a member of the family of connexins, which are components of gap junctions that form intercellular channels and ensure the diffusion of low molecular weight compounds between adjacent cells. Connexin 43 is the main connexin of the gap junctions in the heart and plays a critical role in the synchronization of heart contractions and in embryonic development. ^[2]

Interacts with MAPK7 , ^[3] Caveolin 1 , ^[4] TJP1 ^[5] CSNK1D , ^[6] and PTPRM . ^[7]

Tissue specificity

Connexin 43 is expressed in the heart and cochlea .

In pathology

Mutations of the GJA1 gene are associated with the development of oculodentodigital dysplasia, heart defects ^[2], and Hallermann-Streif syndrome. ^[eight]

Notes

↑ uniprot P17302
↑ ¹ ² Entrez Gene: GJA1 gap junction protein, alpha 1, 43kDa ( Unidentified ) .
↑ Cameron, SJ, Malik, S., Akaike, M., Lerner-Marmarosh, N., Yan, C., Lee, JD, Abe, J., Yang, J. kinase1 / ERK5 but not ERK1 / 2 kinase activation (Eng.) // J. Biol. Chem. : journal. - 2003. - May ( vol. 278 , no. 20 ). - P. 18682-18888 . - DOI : 10.1074 / jbc.M213283200 . - PMID 12637502 .
↑ Schubert AL, Schubert W., Spray DC, Lisanti MP Connexin family members for lipid raft domains and interact with caveolin-1 (Eng.) // Biochemistry: journal. - 2002. - May ( vol. 41 , no. 18 ). P. 5754-5764 . - DOI : 10.1021 / bi0121656 . - PMID 11980479 .
↑ Giepmans BN, Moolenaar WH. Zinc occludens-1 protein (Eng.) // Curr. Biol. : journal. - 1998. - Vol. 8 , no. 16 - P. 931-934 . - DOI : 10.1016 / S0960-9822 (07) 00375-2 . - PMID 9707407 .
↑ Cooper CD, Lampe PD Casein kinase 1 regulates connexin-43 gap junction assembly (Eng.) // J. Biol. Chem. : journal. - 2002. - November ( vol. 277 , no. 47 ). - P. 44962—44968 . - DOI : 10.1074 / jbc.M209427200 . - PMID 12270943 .
↑ Giepmans BN, Feiken E., Gebbink MF, Moolenaar WH Association of connexin43 with a receptor protein tyrosine phosphatase (eng.) // Cell Commun. Adhes. : journal. - 2003. - Vol. 10 , no. 4-6 . - P. 201—205 . - PMID 14681016 .
↑ Pizzuti A., Flex E., Mingarelli R., Salpietro C., Zelante L., Dallapiccola B. A homozygous GJA1 Hallermann-Streiff / ODDD spectrum phenotype (English) // Hum. Mutat. : journal. - 2004. - March ( vol. 23 , no. 3 ). - P. 286 . - DOI : 10.1002 / humu.9220 . - PMID 14974090 .

Bibliography

Andrew L Harris and Darren Locke. Connexins, A Guide . - New York: Springer, 2009. - P. 574. - ISBN 978-1-934115-46-6 .
Saffitz JE, Laing JG, Yamada KA Connexin expression and turnover for cardiac excitability. (Eng.) // Circ. Res. : journal. - 2000. - Vol. 86 , no. 7 - P. 723-728 . - PMID 10764404 .
Chew SS, Johnson CS, Green CR, Danesh-Meyer HV Role of connexin43 in central nervous system injury (Eng.) // Exp. Neurol. : journal. - 2010. - October ( vol. 225 , no. 2 ). - P. 250-261 . - DOI : 10.1016 / j.expneurol.2010.07.014 . - PMID 20655909 .
Paznekas WA, Karczeski B., Vermeer S., et al. GJA1 mutations, and connexin 43 dysfunction of the phenotype (English) // Hum. Mutat. : journal. - 2009. - May ( vol. 30 , no. 5 ). - P. 724-733 . - DOI : 10.1002 / humu.20958 . - PMID 19338053 .

[1] uniprot P17302

[entrez-2] ¹ ² Entrez Gene: GJA1 gap junction protein, alpha 1, 43kDa ( Unidentified ) .

[pmid12637502-3] Cameron, SJ, Malik, S., Akaike, M., Lerner-Marmarosh, N., Yan, C., Lee, JD, Abe, J., Yang, J. kinase1 / ERK5 but not ERK1 / 2 kinase activation (Eng.) // J. Biol. Chem. : journal. - 2003. - May ( vol. 278 , no. 20 ). - P. 18682-18888 . - DOI : 10.1074 / jbc.M213283200 . - PMID 12637502 .

[pmid11980479-4] Schubert AL, Schubert W., Spray DC, Lisanti MP Connexin family members for lipid raft domains and interact with caveolin-1 (Eng.) // Biochemistry: journal. - 2002. - May ( vol. 41 , no. 18 ). P. 5754-5764 . - DOI : 10.1021 / bi0121656 . - PMID 11980479 .

[pmid9707407-5] Giepmans BN, Moolenaar WH. Zinc occludens-1 protein (Eng.) // Curr. Biol. : journal. - 1998. - Vol. 8 , no. 16 - P. 931-934 . - DOI : 10.1016 / S0960-9822 (07) 00375-2 . - PMID 9707407 .

[pmid12270943-6] Cooper CD, Lampe PD Casein kinase 1 regulates connexin-43 gap junction assembly (Eng.) // J. Biol. Chem. : journal. - 2002. - November ( vol. 277 , no. 47 ). - P. 44962—44968 . - DOI : 10.1074 / jbc.M209427200 . - PMID 12270943 .

[pmid14681016-7] Giepmans BN, Feiken E., Gebbink MF, Moolenaar WH Association of connexin43 with a receptor protein tyrosine phosphatase (eng.) // Cell Commun. Adhes. : journal. - 2003. - Vol. 10 , no. 4-6 . - P. 201—205 . - PMID 14681016 .

[pmid14974090-8] Pizzuti A., Flex E., Mingarelli R., Salpietro C., Zelante L., Dallapiccola B. A homozygous GJA1 Hallermann-Streiff / ODDD spectrum phenotype (English) // Hum. Mutat. : journal. - 2004. - March ( vol. 23 , no. 3 ). - P. 286 . - DOI : 10.1002 / humu.9220 . - PMID 14974090 .