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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu24686 Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu24686C Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. Customized vector In-stock $149.00 5-7

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000165.4, 635574611
Length 1149 bp
Structure linear
Update Date 17-MAY-2014
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, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014].

RefSeq NP_000156.1
CDS 273..1421
Misc Feature(1)246..248
Misc Feature(2)246..248
Misc Feature(3)279..575
Misc Feature(4)279..575
Misc Feature(5)312..380
Misc Feature(6)501..569
Misc Feature(7)735..803
Misc Feature(8)765..965
Misc Feature(9)897..965
Misc Feature(10)1011..1013
Misc Feature(11)1035..1037
Misc Feature(12)1035..1037
Misc Feature(13)1035..1037
Misc Feature(14)1035..1037
Misc Feature(15)1056..1058
Misc Feature(16)1065..1067
Misc Feature(17)1107..1109
Misc Feature(18)1116..1118
Misc Feature(19)1116..1118
Misc Feature(20)1116..1118
Misc Feature(21)1149..1208
Misc Feature(22)1188..1190
Misc Feature(23)1209..1211
Misc Feature(24)1212..1214
Misc Feature(25)1245..1247
Misc Feature(26)1245..1247
Misc Feature(27)1254..1256
Misc Feature(28)1254..1256
Misc Feature(29)1260..1262
Misc Feature(30)1260..1262
Misc Feature(31)1302..1304
Misc Feature(32)1365..1367
Misc Feature(33)1374..1376
Misc Feature(34)1374..1376
Misc Feature(35)1374..1376
Misc Feature(36)1377..1379
Misc Feature(37)1389..1391
Translation MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPG CENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFS LSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD QRPSSRASSRASSRPRPDDLEI
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Position Chain Variation Link
Gene SymbolGJA1
Gene SynonymAVSD3; CMDR; CX43; GJAL; HLHS1; HSS; ODDD
Chromosome6
Locus Map6q22.31
Title Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum .
Author Jamsheer A, Sowinska-Seidler A, Socha M, Stembalska A, Kiraly-Borri
Journal Gene 539 (1), 157-161 (2014)
Title HIV increases the release of dickkopf-1 protein from human astrocytes by a Cx43 hemichannel-dependent mechanism .
Author Orellana JA, Saez JC, Bennett MV, Berman JW, Morgello S and Eugenin EA.
Journal J. Neurochem. 128 (5), 752-763 (2014)
Title Gap junction intercellular communications regulate NK cell activation and modulate NK cytotoxic capacity .
Author Tittarelli A, Mendoza-Naranjo A, Farias M, Guerrero I, Ihara F, Wennerberg E, Riquelme S, Gleisner A, Kalergis A, Lundqvist A, Lopez MN, Chambers BJ and Salazar-Onfray F.
Journal J. Immunol. 192 (3), 1313-1319 (2014)
Title Human cytomegalovirus immediate early proteins promote degradation of connexin 43 and disrupt gap junction communication: implications for a role in gliomagenesis .
Author Khan Z, Yaiw KC, Wilhelmi V, Lam H, Rahbar A, Stragliotto G and Soderberg-Naucler C.
Journal Carcinogenesis 35 (1), 145-154 (2014)
Title Connexin43 functions as a novel interacting partner of heat shock cognate protein 70 .
Author Hatakeyama T, Dai P, Harada Y, Hino H, Tsukahara F, Maru Y, Otsuji
Journal Sci Rep 3, 2719 (2013)
Title Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality .
Author Britz-Cunningham SH, Shah MM, Zuppan CW and Fletcher WH.
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 JR, Buttrick PM and Fishman GI.
Journal J. Mol. Cell. Cardiol. 26 (3), 379-389 (1994)
Title Functional analysis of human cardiac gap junction channel mutants .
Author Fishman GI, Moreno AP, Spray DC and Leinwand LA.
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 GI, Eddy RL, Shows TB, Rosenthal L and Leinwand LA.
Journal Genomics 10 (1), 250-256 (1991)
Title Molecular characterization and functional expression of the human cardiac gap junction channel .
Author Fishman GI, Spray DC and Leinwand LA.
Journal J. Cell Biol. 111 (2), 589-598 (1990)

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