KEGG T01001: 2697

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

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]
09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04540 Gap junction
    2697 (GJA1)
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:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

UniProt:

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

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