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

Gene name
GJA1, AVSD3, CMDR, CX43, DFNB38, GJAL, HLHS1, HSS, ODDD
Definition
gap junction protein, alpha 1, 43kDa
Orthology
K07372  
gap junction protein, alpha 1
Organism
hsa  Homo sapiens (human)
Pathway
Gap junction
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Disease
H00449  
Oculodentodigital dysplasia
H00605  
Deafness, autosomal recessive
H01095  
Syndactyly
H01272  
Hypoplastic left heart syndrome (HLHS)
Class
Cellular Processes; Cell communication; Gap junction [PATH:hsa04540]
Human Diseases; Cardiovascular diseases; Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
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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