KEGG   Homo sapiens (human): 2705
Entry
2705              CDS       T01001                                 
Symbol
GJB1, CMTX, CMTX1, CX32
Name
(RefSeq) gap junction protein beta 1
  KO
K07620  gap junction beta-1 protein
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    2705 (GJB1)
Transporters [BR:hsa02000]
 Other transporters
  Pores ion channels [TC:1]
   2705 (GJB1)
SSDB
Motif
Pfam: Connexin
Other DBs
NCBI-GeneID: 2705
NCBI-ProteinID: NP_000157
OMIM: 304040
HGNC: 4283
Ensembl: ENSG00000169562
UniProt: P08034 A0A654ICJ7
Structure
LinkDB
Position
X:71215239..71225516
AA seq 283 aa
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGC
NSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEV
KRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCF
VSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC
NT seq 852 nt   +upstreamnt  +downstreamnt
atgaactggacaggtttgtacaccttgctcagtggcgtgaaccggcattctactgccatt
ggccgagtatggctctcggtcatcttcatcttcagaatcatggtgctggtggtggctgca
gagagtgtgtggggtgatgagaaatcttccttcatctgcaacacactccagcctggctgc
aacagcgtttgctatgaccaattcttccccatctcccatgtgcggctgtggtccctgcag
ctcatcctagtttccaccccagctctcctcgtggccatgcacgtggctcaccagcaacac
atagagaagaaaatgctacggcttgagggccatggggaccccctacacctggaggaggtg
aagaggcacaaggtccacatctcagggacactgtggtggacctatgtcatcagcgtggtg
ttccggctgttgtttgaggccgtcttcatgtatgtcttttatctgctctaccctggctat
gccatggtgcggctggtcaagtgcgacgtctacccctgccccaacacagtggactgcttc
gtgtcccgccccaccgagaaaaccgtcttcaccgtcttcatgctagctgcctctggcatc
tgcatcatcctcaatgtggccgaggtggtgtacctcatcatccgggcctgtgcccgccga
gcccagcgccgctccaatccaccttcccgcaagggctcgggcttcggccaccgcctctca
cctgaatacaagcagaatgagatcaacaagctgctgagtgagcaggatggctccctgaaa
gacatactgcgccgcagccctggcaccggggctgggctggctgaaaagagcgaccgctgc
tcggcctgctga

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