KEGG   Homo sapiens (human): 2705Help
Entry
2705              CDS       T01001                                 

Gene name
GJB1, CMTX, CMTX1, CX32
Definition
(RefSeq) gap junction protein beta 1
  KO
K07620  gap junction beta-1 protein
Organism
hsa  Homo sapiens (human)
Disease
H00264  Charcot-Marie-Tooth disease (CMT)
Brite
Transporters [BR:hsa02000]
 Other Transporters
  Pores ion channels [TC:1]
   2705 (GJB1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Connexin
Motif
Other DBs
NCBI-GeneID: 2705
NCBI-ProteinID: NP_000157
OMIM: 304040
HGNC: 4283
Ensembl: ENSG00000169562
Vega: OTTHUMG00000021797
Pharos: P08034(Tbio)
UniProt: P08034
Structure
PDB: 

Jmol
Position
Xq13.1
AA seq 283 aa AA seqDB search
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGC
NSVCYDQFFPISHVRLWSLQLILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEV
KRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVKCDVYPCPNTVDCF
VSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC
NT seq 852 nt NT seq  +upstreamnt  +downstreamnt
atgaactggacaggtttgtacaccttgctcagtggcgtgaaccggcattctactgccatt
ggccgagtatggctctcggtcatcttcatcttcagaatcatggtgctggtggtggctgca
gagagtgtgtggggtgatgagaaatcttccttcatctgcaacacactccagcctggctgc
aacagcgtttgctatgaccaattcttccccatctcccatgtgcggctgtggtccctgcag
ctcatcctagtttccaccccagctctcctcgtggccatgcacgtggctcaccagcaacac
atagagaagaaaatgctacggcttgagggccatggggaccccctacacctggaggaggtg
aagaggcacaaggtccacatctcagggacactgtggtggacctatgtcatcagcgtggtg
ttccggctgttgtttgaggccgtcttcatgtatgtcttttatctgctctaccctggctat
gccatggtgcggctggtcaagtgcgacgtctacccctgccccaacacagtggactgcttc
gtgtcccgccccaccgagaaaaccgtcttcaccgtcttcatgctagctgcctctggcatc
tgcatcatcctcaatgtggccgaggtggtgtacctcatcatccgggcctgtgcccgccga
gcccagcgccgctccaatccaccttcccgcaagggctcgggcttcggccaccgcctctca
cctgaatacaagcagaatgagatcaacaagctgctgagtgagcaggatggctccctgaaa
gacatactgcgccgcagccctggcaccggggctgggctggctgaaaagagcgaccgctgc
tcggcctgctga

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