Hmdb loader
Survey

Showing Protein Gap junction alpha-1 protein (HMDBP01740)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 1 metabolite
Identification
HMDB Protein ID HMDBP01740
Secondary Accession Numbers
  • 7089
Name Gap junction alpha-1 protein
Synonyms
  1. Connexin-43
  2. Cx43
  3. Gap junction 43 kDa heart protein
Gene Name GJA1
Protein Type Enzyme
Biological Properties
General Function Involved in cell communication
Specific Function One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph
Pathways Not Available
Reactions Not Available
GO Classification
Component
connexon complex
macromolecular complex
protein complex
Function
transmembrane transporter activity
transporter activity
Process
cellular process
developmental process
anatomical structure development
organ development
heart development
cell-cell signaling
cell communication
Cellular Location
  1. Cell membrane
  2. Multi-pass membrane protein
  3. Cell junction
  4. gap junction
Gene Properties
Chromosome Location Chromosome:6
Locus 6q21-q23.2
SNPs GJA1
Gene Sequence 
>1149 bp
ATGGGTGACTGGAGCGCCTTAGGCAAACTCCTTGACAAGGTTCAAGCCTACTCAACTGCT
GGAGGGAAGGTGTGGCTGTCAGTACTTTTCATTTTCCGAATCCTGCTGCTGGGGACAGCG
GTTGAGTCAGCCTGGGGAGATGAGCAGTCTGCCTTTCGTTGTAACACTCAGCAACCTGGT
TGTGAAAATGTCTGCTATGACAAGTCTTTCCCAATCTCTCATGTGCGCTTCTGGGTCCTG
CAGATCATATTTGTGTCTGTACCCACACTCTTGTACCTGGCTCATGTGTTCTATGTGATG
CGAAAGGAAGAGAAACTGAACAAGAAAGAGGAAGAACTCAAGGTTGCCCAAACTGATGGT
GTCAATGTGGACATGCACTTGAAGCAGATTGAGATAAAGAAGTTCAAGTACGGTATTGAA
GAGCATGGTAAGGTGAAAATGCGAGGGGGGTTGCTGCGAACCTACATCATCAGTATCCTC
TTCAAGTCTATCTTTGAGGTGGCCTTCTTGCTGATCCAGTGGTACATCTATGGATTCAGC
TTGAGTGCTGTTTACACTTGCAAAAGAGATCCCTGCCCACATCAGGTGGACTGTTTCCTC
TCTCGCCCCACGGAGAAAACCATCTTCATCATCTTCATGCTGGTGGTGTCCTTGGTGTCC
CTGGCCTTGAATATCATTGAACTCTTCTATGTTTTCTTCAAGGGCGTTAAGGATCGGGTT
AAGGGAAAGAGCGACCCTTACCATGCGACCAGTGGTGCGCTGAGCCCTGCCAAAGACTGT
GGGTCTCAAAAATATGCTTATTTCAATGGCTGCTCCTCACCAACCGCTCCCCTCTCGCCT
ATGTCTCCTCCTGGGTACAAGCTGGTTACTGGCGACAGAAACAATTCTTCTTGCCGCAAT
TACAACAAGCAAGCAAGTGAGCAAAACTGGGCTAATTACAGTGCAGAACAAAATCGAATG
GGGCAGGCGGGAAGCACCATCTCTAACTCCCATGCACAGCCTTTTGATTTCCCCGATGAT
AACCAGAATTCTAAAAAACTAGCTGCTGGACATGAATTACAGCCACTAGCCATTGTGGAC
CAGCGACCTTCAAGCAGAGCCAGCAGTCGTGCCAGCAGCAGACCTCGGCCTGATGACCTG
GAGATCTAG
Protein Properties
Number of Residues 382
Molecular Weight 43008.0
Theoretical pI 8.98
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 14-36
  • 77-99
  • 155-177
  • 209-231
Protein Sequence 
>Gap junction alpha-1 protein
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPG
CENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG
VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFS
LSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN
YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD
QRPSSRASSRASSRPRPDDLEI
GenBank ID Protein 29917
UniProtKB/Swiss-Prot ID P17302
UniProtKB/Swiss-Prot Entry Name CXA1_HUMAN
PDB IDs
GenBank Gene ID X52947
GeneCard ID GJA1
GenAtlas ID GJA1
HGNC ID HGNC:4274
References
General References
  1. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed:14574404 ]
  2. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039 ]
  3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  4. Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ: Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell. 2007 Dec 14;131(6):1190-203. [PubMed:18083107 ]
  5. Fishman GI, Spray DC, Leinwand LA: Molecular characterization and functional expression of the human cardiac gap junction channel. J Cell Biol. 1990 Aug;111(2):589-98. [PubMed:1696265 ]
  6. Fishman GI, Eddy RL, Shows TB, Rosenthal L, Leinwand LA: The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. Genomics. 1991 May;10(1):250-6. [PubMed:1646158 ]
  7. Haefliger JA, Goy JJ, Waeber G: Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes. Eur Heart J. 1999 Dec;20(24):1843. [PubMed:10581143 ]
  8. Toyofuku T, Yabuki M, Otsu K, Kuzuya T, Hori M, Tada M: Intercellular calcium signaling via gap junction in connexin-43-transfected cells. J Biol Chem. 1998 Jan 16;273(3):1519-28. [PubMed:9430691 ]
  9. Doble BW, Dang X, Ping P, Fandrich RR, Nickel BE, Jin Y, Cattini PA, Kardami E: Phosphorylation of serine 262 in the gap junction protein connexin-43 regulates DNA synthesis in cell-cell contact forming cardiomyocytes. J Cell Sci. 2004 Jan 26;117(Pt 3):507-14. [PubMed:14702389 ]
  10. Saffitz JE, Laing JG, Yamada KA: Connexin expression and turnover : implications for cardiac excitability. Circ Res. 2000 Apr 14;86(7):723-8. [PubMed:10764404 ]
  11. Gebbia M, Towbin JA, Casey B: Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation. 1996 Oct 15;94(8):1909-12. [PubMed:8873667 ]
  12. Penman Splitt M, Tsai MY, Burn J, Goodship JA: Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. Heart. 1997 Apr;77(4):369-70. [PubMed:9155619 ]
  13. Toth T, Hajdu J, Marton T, Nagy B, Papp Z: connexin43 gene mutations and heterotaxy. Circulation. 1998 Jan 6-13;97(1):117-8. [PubMed:9443444 ]
  14. Liu XZ, Xia XJ, Adams J, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE: Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet. 2001 Dec 1;10(25):2945-51. [PubMed:11741837 ]
  15. Akiyama M, Ishida N, Ogawa T, Yogo K, Takeya T: Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150. Biochem Biophys Res Commun. 2005 Oct 7;335(4):1264-71. [PubMed:16112082 ]
  16. Richardson RJ, Joss S, Tomkin S, Ahmed M, Sheridan E, Dixon MJ: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. J Med Genet. 2006 Jul;43(7):e37. [PubMed:16816024 ]
  17. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW: Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb;72(2):408-18. Epub 2002 Nov 27. [PubMed:12457340 ]
  18. Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH: Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med. 1995 May 18;332(20):1323-9. [PubMed:7715640 ]
  19. Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH: Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res. 2001 Aug 8;479(1-2):173-86. [PubMed:11470490 ]
  20. Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup N: Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A. 2004 Jun 1;127A(2):152-7. [PubMed:15108203 ]
  21. Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B: A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. Hum Mutat. 2004 Mar;23(3):286. [PubMed:14974090 ]
  22. Richardson R, Donnai D, Meire F, Dixon MJ: Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet. 2004 Jan;41(1):60-7. [PubMed:14729836 ]
  23. Vitiello C, D'Adamo P, Gentile F, Vingolo EM, Gasparini P, Banfi S: A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. Am J Med Genet A. 2005 Feb 15;133A(1):58-60. [PubMed:15637728 ]
  24. Honkaniemi J, Kalkkila JP, Koivisto P, Kahara V, Latvala T, Simola K: Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia. Am J Med Genet A. 2005 Nov 15;139(1):48-9. [PubMed:16222672 ]
  25. Vasconcellos JP, Melo MB, Schimiti RB, Bressanim NC, Costa FF, Costa VP: A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia. Arch Ophthalmol. 2005 Oct;123(10):1422-6. [PubMed:16219735 ]
  26. Chen P, Xie LJ, Huang GY, Zhao XQ, Chang C: Mutations of connexin43 in fetuses with congenital heart malformations. Chin Med J (Engl). 2005 Jun 20;118(12):971-6. [PubMed:15978203 ]
  27. Kellermayer R, Keller M, Ratajczak P, Richardson E, Harangi F, Merei E, Melegh B, Kosztolanyi G, Richard G: Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. Eur J Dermatol. 2005 Mar-Apr;15(2):75-9. [PubMed:15757815 ]
  28. Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP: Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet. 2005 Oct-Dec;48(4):377-87. [PubMed:16378922 ]
  29. Wiest T, Herrmann O, Stogbauer F, Grasshoff U, Enders H, Koch MJ, Grond-Ginsbach C, Schwaninger M: Clinical and genetic variability of oculodentodigital dysplasia. Clin Genet. 2006 Jul;70(1):71-2. [PubMed:16813608 ]
  30. Kelly SC, Ratajczak P, Keller M, Purcell SM, Griffin T, Richard G: A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. Eur J Dermatol. 2006 May-Jun;16(3):241-5. [PubMed:16709485 ]
  31. van Es RJ, Wittebol-Post D, Beemer FA: Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg. 2007 Sep;36(9):858-60. Epub 2007 May 16. [PubMed:17509830 ]
  32. de la Parra DR, Zenteno JC: A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. Ophthalmic Genet. 2007 Dec;28(4):198-202. [PubMed:18161618 ]
  33. Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW: GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat. 2009 May;30(5):724-33. doi: 10.1002/humu.20958. [PubMed:19338053 ]