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Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000165 Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

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RefSeq Version NM_000165.3, 122939163
Length 3130 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.
Product gap junction alpha-1 protein
Comment

Summary: 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. [provided by RefSeq, Jul 2008].

RefSeq NP_000156.1
CDS 251..1399
Misc Feature(1)224..226
Misc Feature(2)257..553
Misc Feature(3)257..553
Misc Feature(4)290..358
Misc Feature(5)479..547
Misc Feature(6)713..781
Misc Feature(7)743..943
Misc Feature(8)875..943
Misc Feature(9)989..991
Misc Feature(10)1013..1015
Misc Feature(11)1013..1015
Misc Feature(12)1013..1015
Misc Feature(13)1013..1015
Misc Feature(14)1034..1036
Misc Feature(15)1043..1045
Misc Feature(16)1085..1087
Misc Feature(17)1094..1096
Misc Feature(18)1094..1096
Misc Feature(19)1094..1096
Misc Feature(20)1127..1186
Misc Feature(21)1166..1168
Misc Feature(22)1187..1189
Misc Feature(23)1190..1192
Misc Feature(24)1223..1225
Misc Feature(25)1223..1225
Misc Feature(26)1232..1234
Misc Feature(27)1232..1234
Misc Feature(28)1238..1240
Misc Feature(29)1238..1240
Misc Feature(30)1280..1282
Misc Feature(31)1343..1345
Misc Feature(32)1352..1354
Misc Feature(33)1352..1354
Misc Feature(34)1352..1354
Misc Feature(35)1355..1357
Misc Feature(36)1367..1369
Exon (1)1..234
Gene:GJA1
Gene Synonym:AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS; ODDD
Exon (2)235..3130
Gene:GJA1
Gene Synonym:AVSD3; CX43; DFNB38; GJAL; HLHS1; HSS; ODDD
Translation MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPG CENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFS LSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD QRPSSRASSRASSRPRPDDLEI
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Position Chain Variation Link
85+dbSNP:
85+, adbSNP:201864842
109+c, tdbSNP:185966088
141+a, gdbSNP:190869601
180+g, tdbSNP:200606693
184+c, gdbSNP:111581053
268+c, tdbSNP:200520137
282+c, tdbSNP:121912969
300+a, cdbSNP:104893961
302+c, tdbSNP:104893962
311+a, gdbSNP:104893963
315+a, gdbSNP:104893964
347+c, tdbSNP:121912970
355+c, gdbSNP:147811981
439+c, tdbSNP:139688042
476+a, cdbSNP:267606845
477+a, gdbSNP:267606844
517+a, gdbSNP:72548740
536+a, gdbSNP:28931601
577+a, gdbSNP:145279962
661+c, tdbSNP:201088822
677+a, gdbSNP:28931600
682+a, gdbSNP:201994305
706+a, gdbSNP:72548741
719+a, gdbSNP:79357545
752+c, tdbSNP:111717577
831+a, cdbSNP:104893966
907+c, gdbSNP:147637926
956+a, gdbSNP:148384161
962+g, tdbSNP:143026885
967+a, c, gdbSNP:57946868
968+a, gdbSNP:140144121
969+a, tdbSNP:145367364
974+a, gdbSNP:138386744
996+a, cdbSNP:192870757
998+a, gdbSNP:142940551
1008+c, tdbSNP:17653265
1015+a, cdbSNP:138941844
1018+c, tdbSNP:55796648
1034+c, tdbSNP:149442143
1075+c, tdbSNP:144657112
1087+a, gdbSNP:67407537
1202+a, cdbSNP:143898957
1241+c, tdbSNP:66916792
1282+a, tdbSNP:17852395
1289+a, cdbSNP:184583316
1300+a, gdbSNP:147277470
1335+a, gdbSNP:2227885
1377+a, gdbSNP:104893965
1378+a, gdbSNP:145215218
1400..1401+, adbSNP:144617620
1402..1403+, adbSNP:67678923
1488+a, gdbSNP:67721882
1518+c, tdbSNP:72548742
1553+a, gdbSNP:72548743
1562..1563+, gdbSNP:36054859
1564+c, gdbSNP:138314962
1572+a, gdbSNP:72548744
1640+a, gdbSNP:72548745
1642+a, gdbSNP:139128953
1670+c, gdbSNP:72548746
1671+a, gdbSNP:72548747
1684+a, tdbSNP:72548748
1700+a, cdbSNP:72548749
1752+a, gdbSNP:45516992
1771+a, tdbSNP:113758463
2084+a, cdbSNP:183624872
2162..2163+, tdbSNP:143435743
2163..2164+, tdbSNP:34370179
2367+c, tdbSNP:111878880
2420+c, tdbSNP:74968349
2721+a, tdbSNP:12212865
2893+, tdbSNP:34127088
2899+a, tdbSNP:1049349
3003+a, cdbSNP:11541536
3085+a, gdbSNP:111485072
Gene SymbolGJA1
Gene SynonymAVSD3; CX43; DFNB38; GJAL; HLHS1; HSS; ODDD
Chromosome6
Locus Map6q21-q23.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000165 Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. In-stock $418.00 $369.00 10
Title Reversible atrial gap junction remodeling during hypoxia/reoxygenation and ischemia: a possible arrhythmogenic substrate for atrial fibrillation .
Author Severino,A., Narducci,M.L., Pedicino,D., Pazzano,V., Giglio,A.F., Biasucci,L.M., Liuzzo,G., Casella,M., Bartoletti,S., Dello Russo,A., Pelargonio,G., Santangeli,P., Di Biase,L., Natale,A. and Crea,F.
Journal Gen. Physiol. Biophys. 31 (4), 439-448 (2012)
Title Cx43, ZO-1, alpha-catenin and beta-catenin in cataractous lens epithelial cells .
Author Arora,A.I., Johar,K., Gajjar,D.U., Ganatra,D.A., Kayastha,F.B., Pal,A.K., Patel,A.R., Rajkumar,S. and Vasavada,A.R.
Journal J. Biosci. 37 (6), 979-987 (2012)
Title Construction of recombinant adenovirus vector with connexin 43 gene .
Author Wu,J., Liu,W., Li,Y., Schroeder,B., Zhou,H., Liu,D., Yue,X., Shi,G., Sun,X., Zhao,Y., Wang,Y. and Qiu,X.
Journal Acta Biochim. Biophys. Sin. (Shanghai) 44 (10), 894-895 (2012)
Title Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia .
Author Shao,Q., Liu,Q., Lorentz,R., Gong,X.Q., Bai,D., Shaw,G.S. and Laird,D.W.
Journal Mol. Biol. Cell 23 (17), 3312-3321 (2012)
Title Connexin mimetic peptides inhibit Cx43 hemichannel opening triggered by voltage and intracellular Ca2+ elevation .
Author Wang,N., De Bock,M., Antoons,G., Gadicherla,A.K., Bol,M., Decrock,E., Evans,W.H., Sipido,K.R., Bukauskas,F.F. and Leybaert,L.
Journal Basic Res. Cardiol. 107 (6), 304 (2012)
Title Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality .
Author Britz-Cunningham,S.H., Shah,M.M., Zuppan,C.W. and Fletcher,W.H.
Journal N. Engl. J. Med. 332 (20), 1323-1329 (1995)
Title Functional analysis of the connexin43 gene promoter in vivo and in vitro .
Author De Leon,J.R., Buttrick,P.M. and Fishman,G.I.
Journal J. Mol. Cell. Cardiol. 26 (3), 379-389 (1994)
Title Functional analysis of human cardiac gap junction channel mutants .
Author Fishman,G.I., Moreno,A.P., Spray,D.C. and Leinwand,L.A.
Journal Proc. Natl. Acad. Sci. U.S.A. 88 (9), 3525-3529 (1991)
Title The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures .
Author Fishman,G.I., Eddy,R.L., Shows,T.B., Rosenthal,L. and Leinwand,L.A.
Journal Genomics 10 (1), 250-256 (1991)
Title Molecular characterization and functional expression of the human cardiac gap junction channel .
Author Fishman,G.I., Spray,D.C. and Leinwand,L.A.
Journal J. Cell Biol. 111 (2), 589-598 (1990)


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