KEGG   Homo sapiens (human): 2697Help
Entry
2697              CDS       T01001                                 

Gene name
GJA1, AVSD3, CMDR, CX43, EKVP, EKVP3, GJAL, HLHS1, HSS, ODDD, PPKCA
Definition
(RefSeq) gap junction protein alpha 1
  KO
K07372  gap junction alpha-1 protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04540  Gap junction
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Disease
H00449  Oculodentodigital dysplasia
H00547  Atrioventricular septal defect
H00605  Deafness, autosomal recessive
H00710  Erythrokeratodermia variabilis
H01095  Syndactyly
H01272  Hypoplastic left heart syndrome (HLHS)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Cellular community - eukaryotes
   04540 Gap junction
    2697 (GJA1)
 Human Diseases
  Cardiovascular diseases
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    2697 (GJA1)
Transporters [BR:hsa02000]
 Other Transporters
  Pores ion channels [TC:1]
   2697 (GJA1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Connexin Connexin43 Connexin40_C Ammonium_transp
Motif
Other DBs
NCBI-GeneID: 2697
NCBI-ProteinID: NP_000156
OMIM: 121014
HGNC: 4274
Ensembl: ENSG00000152661
Vega: OTTHUMG00000015479
Pharos: P17302(Tbio)
UniProt: P17302
LinkDB All DBs
Structure
PDB: 

Position
6q22.31
AA seq 382 aa AA seqDB search
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPG
CENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG
VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFS
LSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN
YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD
QRPSSRASSRASSRPRPDDLEI
NT seq 1149 nt NT seq  +upstreamnt  +downstreamnt
atgggtgactggagcgccttaggcaaactccttgacaaggttcaagcctactcaactgct
ggagggaaggtgtggctgtcagtacttttcattttccgaatcctgctgctggggacagcg
gttgagtcagcctggggagatgagcagtctgcctttcgttgtaacactcagcaacctggt
tgtgaaaatgtctgctatgacaagtctttcccaatctctcatgtgcgcttctgggtcctg
cagatcatatttgtgtctgtacccacactcttgtacctggctcatgtgttctatgtgatg
cgaaaggaagagaaactgaacaagaaagaggaagaactcaaggttgcccaaactgatggt
gtcaatgtggacatgcacttgaagcagattgagataaagaagttcaagtacggtattgaa
gagcatggtaaggtgaaaatgcgaggggggttgctgcgaacctacatcatcagtatcctc
ttcaagtctatctttgaggtggccttcttgctgatccagtggtacatctatggattcagc
ttgagtgctgtttacacttgcaaaagagatccctgcccacatcaggtggactgtttcctc
tctcgccccacggagaaaaccatcttcatcatcttcatgctggtggtgtccttggtgtcc
ctggccttgaatatcattgaactcttctatgttttcttcaagggcgttaaggatcgggtt
aagggaaagagcgacccttaccatgcgaccagtggtgcgctgagccctgccaaagactgt
gggtctcaaaaatatgcttatttcaatggctgctcctcaccaaccgctcccctctcgcct
atgtctcctcctgggtacaagctggttactggcgacagaaacaattcttcttgccgcaat
tacaacaagcaagcaagtgagcaaaactgggctaattacagtgcagaacaaaatcgaatg
gggcaggcgggaagcaccatctctaactcccatgcacagccttttgatttccccgatgat
aaccagaattctaaaaaactagctgctggacatgaattacagccactagccattgtggac
cagcgaccttcaagcagagccagcagtcgtgccagcagcagacctcggcctgatgacctg
gagatctag

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