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GJA1 cDNA ORF clone, Homo sapiens (human)

Gene Symbol GJA1
Entrez Gene ID 2697
Full Name gap junction protein, alpha 1, 43kDa
Synonyms AVSD3, CMDR, CX43, EKVP, GJAL, HLHS1, HSS, ODDD, PPKCA
General protein information
Preferred Names
gap junction alpha-1 protein
Names
gap junction alpha-1 protein
connexin 43
connexin-43
gap junction 43 kDa heart protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6q22.31

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]. lac of sum
Disorder MIM:

121014

Disorder Html: Oculodentodigital dysplasia, 164200 (3); Syndactyly, type III,

mRNA and Protein(s)

mRNA Protein Name
NM_000165 NP_000156 gap junction alpha-1 protein



Homo sapiens (human) GJA1 NP_000156.1
Pan troglodytes (chimpanzee) GJA1 XP_001164338.1
Macaca mulatta (Rhesus monkey) GJA1 XP_001109617.1
Canis lupus familiaris (dog) GJA1 NP_001002951.2
Bos taurus (cattle) GJA1 NP_776493.1
Mus musculus (house mouse) Gja1 NP_034418.1
Rattus norvegicus (Norway rat) Gja1 NP_036699.1
Gallus gallus (chicken) GJA1 NP_989917.1
Danio rerio (zebrafish) cx43 NP_571113.1
Xenopus (Silurana) tropicalis (western clawed frog) gja1 NP_988856.1


GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following GJA1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the GJA1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu24686
NM_000165 Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$189.50-$265.30
$379.00
Next-day Shipping ORF Clones ( in default vector with tag)
1 Clone 30% OFF
2-4 Clone 40% OFF
5 or more Clone 50% OFF
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30% OFF

*Business Day

** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu24686
Clone ID Related Accession (Same CDS sequence) NM_000165
Accession Version NM_000165.4 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1149bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 16-AUG-2015
Organism Homo sapiens (human)
Product gap junction alpha-1 protein
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP226987.1, BC026329.1, AL139098.15 and AW664595.1. This sequence is a reference standard in the RefSeqGene project. On May 17, 2014 this sequence version replaced gi:122939163. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP226987.1, X52947.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
ATGGGTGACT GGAGCGCCTT AGGCAAACTC CTTGACAAGG TTCAAGCCTA CTCAACTGCT 
GGAGGGAAGG TGTGGCTGTC AGTACTTTTC ATTTTCCGAA TCCTGCTGCT GGGGACAGCG
GTTGAGTCAG CCTGGGGAGA TGAGCAGTCT GCCTTTCGTT GTAACACTCA GCAACCTGGT
TGTGAAAATG TCTGCTATGA CAAGTCTTTC CCAATCTCTC ATGTGCGCTT CTGGGTCCTG
CAGATCATAT TTGTGTCTGT ACCCACACTC TTGTACCTGG CTCATGTGTT CTATGTGATG
CGAAAGGAAG AGAAACTGAA CAAGAAAGAG GAAGAACTCA AGGTTGCCCA AACTGATGGT
GTCAATGTGG ACATGCACTT GAAGCAGATT GAGATAAAGA AGTTCAAGTA CGGTATTGAA
GAGCATGGTA AGGTGAAAAT GCGAGGGGGG TTGCTGCGAA CCTACATCAT CAGTATCCTC
TTCAAGTCTA TCTTTGAGGT GGCCTTCTTG CTGATCCAGT GGTACATCTA TGGATTCAGC
TTGAGTGCTG TTTACACTTG CAAAAGAGAT CCCTGCCCAC ATCAGGTGGA CTGTTTCCTC
TCTCGCCCCA CGGAGAAAAC CATCTTCATC ATCTTCATGC TGGTGGTGTC CTTGGTGTCC
CTGGCCTTGA ATATCATTGA ACTCTTCTAT GTTTTCTTCA AGGGCGTTAA GGATCGGGTT
AAGGGAAAGA GCGACCCTTA CCATGCGACC AGTGGTGCGC TGAGCCCTGC CAAAGACTGT
GGGTCTCAAA AATATGCTTA TTTCAATGGC TGCTCCTCAC CAACCGCTCC CCTCTCGCCT
ATGTCTCCTC CTGGGTACAA GCTGGTTACT GGCGACAGAA ACAATTCTTC TTGCCGCAAT
TACAACAAGC AAGCAAGTGA GCAAAACTGG GCTAATTACA GTGCAGAACA AAATCGAATG
GGGCAGGCGG GAAGCACCAT CTCTAACTCC CATGCACAGC CTTTTGATTT CCCCGATGAT
AACCAGAATT CTAAAAAACT AGCTGCTGGA CATGAATTAC AGCCACTAGC CATTGTGGAC
CAGCGACCTT CAAGCAGAGC CAGCAGTCGT GCCAGCAGCA GACCTCGGCC TGATGACCTG
GAGATCTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_000156.1
CDS273..1421
Misc Feature(1)246..248(+)
Misc Feature(2)279..575(+)
Misc Feature(3)312..380(+)
Misc Feature(4)501..569(+)
Misc Feature(5)735..803(+)
Misc Feature(6)765..965(+)
Misc Feature(7)897..965(+)
Misc Feature(8)1011..1013(+)
Misc Feature(9)1011..1013(+)
Misc Feature(10)1035..1037(+)
Misc Feature(11)1035..1037(+)
Misc Feature(12)1035..1037(+)
Misc Feature(13)1035..1037(+)
Misc Feature(14)1056..1058(+)
Misc Feature(15)1062..1418(+)
Misc Feature(16)1065..1067(+)
Misc Feature(17)1083..1085(+)
Misc Feature(18)1107..1109(+)
Misc Feature(19)1116..1118(+)
Misc Feature(20)1116..1118(+)
Misc Feature(21)1116..1118(+)
Misc Feature(22)1149..1208(+)
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)1365..1367(+)
Misc Feature(34)1374..1376(+)
Misc Feature(35)1374..1376(+)
Misc Feature(36)1374..1376(+)
Misc Feature(37)1374..1376(+)
Misc Feature(38)1377..1379(+)
Misc Feature(39)1377..1379(+)
Misc Feature(40)1389..1391(+)
Misc Feature(41)1389..1391(+)
Exon (1)1..256
Gene:GJA1
Gene Synonym:
Exon (2)257..3169
Gene:GJA1
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_000165
Organism Homo sapiens (human)
Definition Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_000165

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
ATGGGTGACT GGAGCGCCTT AGGCAAACTC CTTGACAAGG TTCAAGCCTA CTCAACTGCT 
GGAGGGAAGG TGTGGCTGTC AGTACTTTTC ATTTTCCGAA TCCTGCTGCT GGGGACAGCG
GTTGAGTCAG CCTGGGGAGA TGAGCAGTCT GCCTTTCGTT GTAACACTCA GCAACCTGGT
TGTGAAAATG TCTGCTATGA CAAGTCTTTC CCAATCTCTC ATGTGCGCTT CTGGGTCCTG
CAGATCATAT TTGTGTCTGT ACCCACACTC TTGTACCTGG CTCATGTGTT CTATGTGATG
CGAAAGGAAG AGAAACTGAA CAAGAAAGAG GAAGAACTCA AGGTTGCCCA AACTGATGGT
GTCAATGTGG ACATGCACTT GAAGCAGATT GAGATAAAGA AGTTCAAGTA CGGTATTGAA
GAGCATGGTA AGGTGAAAAT GCGAGGGGGG TTGCTGCGAA CCTACATCAT CAGTATCCTC
TTCAAGTCTA TCTTTGAGGT GGCCTTCTTG CTGATCCAGT GGTACATCTA TGGATTCAGC
TTGAGTGCTG TTTACACTTG CAAAAGAGAT CCCTGCCCAC ATCAGGTGGA CTGTTTCCTC
TCTCGCCCCA CGGAGAAAAC CATCTTCATC ATCTTCATGC TGGTGGTGTC CTTGGTGTCC
CTGGCCTTGA ATATCATTGA ACTCTTCTAT GTTTTCTTCA AGGGCGTTAA GGATCGGGTT
AAGGGAAAGA GCGACCCTTA CCATGCGACC AGTGGTGCGC TGAGCCCTGC CAAAGACTGT
GGGTCTCAAA AATATGCTTA TTTCAATGGC TGCTCCTCAC CAACCGCTCC CCTCTCGCCT
ATGTCTCCTC CTGGGTACAA GCTGGTTACT GGCGACAGAA ACAATTCTTC TTGCCGCAAT
TACAACAAGC AAGCAAGTGA GCAAAACTGG GCTAATTACA GTGCAGAACA AAATCGAATG
GGGCAGGCGG GAAGCACCAT CTCTAACTCC CATGCACAGC CTTTTGATTT CCCCGATGAT
AACCAGAATT CTAAAAAACT AGCTGCTGGA CATGAATTAC AGCCACTAGC CATTGTGGAC
CAGCGACCTT CAAGCAGAGC CAGCAGTCGT GCCAGCAGCA GACCTCGGCC TGATGACCTG
GAGATCTAG

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Connexin-43 downregulation in G2/M phase enriched tumour cells causes extensive low-dose hyper-radiosensitivity (HRS) associated with mitochondrial apoptotic events
Cancer Lett. 363 (1), 46-59 (2015)
Ghosh S, Kumar A and Chandna S.


book

Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43
J. Invest. Dermatol. 135 (5), 1338-1347 (2015)
Garcia IE, Maripillan J, Jara O, Ceriani R, Palacios-Munoz A, Ramachandran J, Olivero P, Perez-Acle T, Gonzalez C, Saez JC, Contreras JE and Martinez AD.


book

Degradation of gap junction connexins is regulated by the interaction with Cx43-interacting protein of 75 kDa (CIP75)
Biochem. J. 466 (3), 571-585 (2015)
Kopanic JL, Schlingmann B, Koval M, Lau AF, Sorgen PL and Su VF.


book

No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans
S. Afr. Med. J. 105 (1), 23-26 (2015)
Wonkam,A., Bosch,J., Noubiap,J.J., Lebeko,K., Makubalo,N. and Dandara,C.


book

Cervical squamous cancer mRNA profiles reveal the key genes of metastasis and invasion
Eur. J. Gynaecol. Oncol. 36 (3), 309-317 (2015)
Cheng,Y., Ma,D., Zhang,Y., Li,Z. and Geng,L.


book

Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality
N. Engl. J. Med. 332 (20), 1323-1329 (1995)
Britz-Cunningham SH, Shah MM, Zuppan CW and Fletcher WH.


book

Leukodystrophy Overview
(in) Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der Knaap,M.S.


book

Functional analysis of human cardiac gap junction channel mutants
Proc. Natl. Acad. Sci. U.S.A. 88 (9), 3525-3529 (1991)
Fishman GI, Moreno AP, Spray DC and Leinwand LA.


book

The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures
Genomics 10 (1), 250-256 (1991)
Fishman GI, Eddy RL, Shows TB, Rosenthal L and Leinwand LA.


book

Molecular characterization and functional expression of the human cardiac gap junction channel
J. Cell Biol. 111 (2), 589-598 (1990)
Fishman GI, Spray DC and Leinwand LA.


 
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