KEGG   Homo sapiens (human): 3753
Entry
3753              CDS       T01001                                 
Symbol
KCNE1, ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK
Name
(RefSeq) potassium voltage-gated channel subfamily E regulatory subunit 1
  KO
K04894  potassium voltage-gated channel Isk-related subfamily E member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
Disease
H00720  Long QT syndrome
H02091  Jervell and Lange-Nielsen syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09153 Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    3753 (KCNE1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3753 (KCNE1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   3753 (KCNE1)
SSDB
Motif
Pfam: ISK_Channel DUF4958
Other DBs
NCBI-GeneID: 3753
NCBI-ProteinID: NP_000210
OMIM: 176261
HGNC: 6240
Ensembl: ENSG00000180509
Pharos: P15382(Tbio)
UniProt: P15382 Q6FHJ6 C7S316
Structure
Position
21:complement(34446688..34512210)
AA seq 129 aa
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLG
IMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNT
HLPETKPSP
NT seq 390 nt   +upstreamnt  +downstreamnt
atgatcctgtctaacaccacagcggtgacgccctttctgaccaagctgtggcaggagaca
gttcagcagggtggcaacatgtcgggcctggcccgcaggtccccccgcagcagtgacggc
aagctggaggccctctacgtcctcatggtactgggattcttcggcttcttcaccctgggc
atcatgctgagctacatccgctccaagaagctggagcactcgaacgacccattcaacgtc
tacatcgagtccgatgcctggcaagagaaggacaaggcctatgtccaggcccgggtcctg
gagagctacaggtcgtgctatgtcgttgaaaaccatctggccatagaacaacccaacaca
caccttcctgagacgaagccttccccatga

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