KEGG   Homo sapiens (human): 2697
Entry
2697              CDS       T01001                                 
Symbol
GJA1, AVSD3, CMDR, CX43, EKVP, EKVP3, GJAL, HLHS1, HSS, ODDD, PPKCA
Name
(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
Disease
H00449  Oculodentodigital dysplasia
H00491  Craniometaphyseal dysplasia
H00547  Atrioventricular septal defect
H00710  Erythrokeratodermia variabilis
H01095  Syndactyly
H01272  Hypoplastic left heart syndrome
H02844  Palmoplantar keratoderma and congenital alopecia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05412 Arrhythmogenic right ventricular cardiomyopathy
    2697 (GJA1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    2697 (GJA1)
Transporters [BR:hsa02000]
 Other transporters
  Pores ion channels [TC:1]
   2697 (GJA1)
SSDB
Motif
Pfam: Connexin Connexin43 Connexin40_C DUF4153 DUF6377 Ammonium_transp TEX29
Other DBs
NCBI-GeneID: 2697
NCBI-ProteinID: NP_000156
OMIM: 121014
HGNC: 4274
Ensembl: ENSG00000152661
UniProt: P17302 A0A654IBU3
Structure
LinkDB
Position
6:121435646..121449727
AA seq 382 aa
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPG
CENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG
VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFS
LSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN
YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD
QRPSSRASSRASSRPRPDDLEI
NT seq 1149 nt   +upstreamnt  +downstreamnt
atgggtgactggagcgccttaggcaaactccttgacaaggttcaagcctactcaactgct
ggagggaaggtgtggctgtcagtacttttcattttccgaatcctgctgctggggacagcg
gttgagtcagcctggggagatgagcagtctgcctttcgttgtaacactcagcaacctggt
tgtgaaaatgtctgctatgacaagtctttcccaatctctcatgtgcgcttctgggtcctg
cagatcatatttgtgtctgtacccacactcttgtacctggctcatgtgttctatgtgatg
cgaaaggaagagaaactgaacaagaaagaggaagaactcaaggttgcccaaactgatggt
gtcaatgtggacatgcacttgaagcagattgagataaagaagttcaagtacggtattgaa
gagcatggtaaggtgaaaatgcgaggggggttgctgcgaacctacatcatcagtatcctc
ttcaagtctatctttgaggtggccttcttgctgatccagtggtacatctatggattcagc
ttgagtgctgtttacacttgcaaaagagatccctgcccacatcaggtggactgtttcctc
tctcgccccacggagaaaaccatcttcatcatcttcatgctggtggtgtccttggtgtcc
ctggccttgaatatcattgaactcttctatgttttcttcaagggcgttaaggatcgggtt
aagggaaagagcgacccttaccatgcgaccagtggtgcgctgagccctgccaaagactgt
gggtctcaaaaatatgcttatttcaatggctgctcctcaccaaccgctcccctctcgcct
atgtctcctcctgggtacaagctggttactggcgacagaaacaattcttcttgccgcaat
tacaacaagcaagcaagtgagcaaaactgggctaattacagtgcagaacaaaatcgaatg
gggcaggcgggaagcaccatctctaactcccatgcacagccttttgatttccccgatgat
aaccagaattctaaaaaactagctgctggacatgaattacagccactagccattgtggac
cagcgaccttcaagcagagccagcagtcgtgccagcagcagacctcggcctgatgacctg
gagatctag

DBGET integrated database retrieval system