KEGG   Homo sapiens (human): 3784
Entry
3784              CDS       T01001                                 

Gene name
KCNQ1, ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS
Definition
(RefSeq) potassium voltage-gated channel subfamily Q member 1
  KO
K04926  potassium voltage-gated channel KQT-like subfamily member 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04725  Cholinergic synapse
hsa04971  Gastric acid secretion
hsa04972  Pancreatic secretion
hsa04974  Protein digestion and absorption
hsa05110  Vibrio cholerae infection
Disease
H00409  Type 2 diabetes mellitus
H00720  Long QT syndrome
H00725  Short QT syndrome
H00731  Atrial fibrillation
H02091  Jervell and Lange-Nielsen syndrome
Drug target
Ambasilide: D09758
Amiodarone (DG00204): D00636<JP/US> D02910
Azimilide dihydrochloride: D03037
Bepridil (DG00333): D00631<JP> D07520
Dronedarone (DG00207): D02537 D03914<US>
Flindokalner: D04192
Retigabine: D09569
Terikalant: D09757
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09153 Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    3784 (KCNQ1)
  09154 Digestive system
   04971 Gastric acid secretion
    3784 (KCNQ1)
   04972 Pancreatic secretion
    3784 (KCNQ1)
   04974 Protein digestion and absorption
    3784 (KCNQ1)
  09156 Nervous system
   04725 Cholinergic synapse
    3784 (KCNQ1)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05110 Vibrio cholerae infection
    3784 (KCNQ1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    3784 (KCNQ1)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   3784 (KCNQ1)
SSDB
Motif
Pfam: Ion_trans KCNQ_channel Ion_trans_2 WDCP
Other DBs
NCBI-GeneID: 3784
NCBI-ProteinID: NP_000209
OMIM: 607542
HGNC: 6294
Ensembl: ENSG00000053918
Vega: OTTHUMG00000009900
Pharos: P51787(Tclin)
UniProt: P51787 Q96AI9
LinkDB
Structure
PDB: 
3HFE 3BJ4 4V0C 4UMO

Position
11p15.5-p15.4
AA seq 676 aa
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPG
PAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGW
KCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGC
RSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYA
DALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQR
QKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKK
KKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM
RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRD
VIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVT
QLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLP
TYEQLTVPRRGPDEGS
NT seq 2031 nt   +upstreamnt  +downstreamnt
atggccgcggcctcctccccgcccagggccgagaggaagcgctggggttggggccgcctg
ccaggcgcccggcggggcagcgcgggcctggccaagaagtgccccttctcgctggagctg
gcggagggcggcccggcgggcggcgcgctctacgcgcccatcgcgcccggcgccccaggt
cccgcgccccctgcgtccccggccgcgcccgccgcgcccccagttgcctccgaccttggc
ccgcggccgccggtgagcctagacccgcgcgtctccatctacagcacgcgccgcccggtg
ttggcgcgcacccacgtccagggccgcgtctacaacttcctcgagcgtcccaccggctgg
aaatgcttcgtttaccacttcgccgtcttcctcatcgtcctggtctgcctcatcttcagc
gtgctgtccaccatcgagcagtatgccgccctggccacggggactctcttctggatggag
atcgtgctggtggtgttcttcgggacggagtacgtggtccgcctctggtccgccggctgc
cgcagcaagtacgtgggcctctgggggcggctgcgctttgcccggaagcccatttccatc
atcgacctcatcgtggtcgtggcctccatggtggtcctctgcgtgggctccaaggggcag
gtgtttgccacgtcggccatcaggggcatccgcttcctgcagatcctgaggatgctacac
gtcgaccgccagggaggcacctggaggctcctgggctccgtggtcttcatccaccgccag
gagctgataaccaccctgtacatcggcttcctgggcctcatcttctcctcgtactttgtg
tacctggctgagaaggacgcggtgaacgagtcaggccgcgtggagttcggcagctacgca
gatgcgctgtggtggggggtggtcacagtcaccaccatcggctatggggacaaggtgccc
cagacgtgggtcgggaagaccatcgcctcctgcttctctgtctttgccatctccttcttt
gcgctcccagcggggattcttggctcggggtttgccctgaaggtgcagcagaagcagagg
cagaagcacttcaaccggcagatcccggcggcagcctcactcattcagaccgcatggagg
tgctatgctgccgagaaccccgactcctccacctggaagatctacatccggaaggccccc
cggagccacactctgctgtcacccagccccaaacccaagaagtctgtggtggtaaagaaa
aaaaagttcaagctggacaaagacaatggggtgactcctggagagaagatgctcacagtc
ccccatatcacgtgcgaccccccagaagagcggcggctggaccacttctctgtcgacggc
tatgacagttctgtaaggaagagcccaacactgctggaagtgagcatgccccatttcatg
agaaccaacagcttcgccgaggacctggacctggaaggggagactctgctgacacccatc
acccacatctcacagctgcgggaacaccatcgggccaccattaaggtcattcgacgcatg
cagtactttgtggccaagaagaaattccagcaagcgcggaagccttacgatgtgcgggac
gtcattgagcagtactcgcagggccacctcaacctcatggtgcgcatcaaggagctgcag
aggaggctggaccagtccattgggaagccctcactgttcatctccgtctcagaaaagagc
aaggatcgcggcagcaacacgatcggcgcccgcctgaaccgagtagaagacaaggtgacg
cagctggaccagaggctggcactcatcaccgacatgcttcaccagctgctctccttgcac
ggtggcagcacccccggcagcggcggcccccccagagagggcggggcccacatcacccag
ccctgcggcagtggcggctccgtcgaccctgagctcttcctgcccagcaacaccctgccc
acctacgagcagctgaccgtgcccaggaggggccccgatgaggggtcctga

KEGG   Homo sapiens (human): 9992
Entry
9992              CDS       T01001                                 

Gene name
KCNE2, ATFB4, LQT5, LQT6, MIRP1
Definition
(RefSeq) potassium voltage-gated channel subfamily E regulatory subunit 2
  KO
K04896  potassium voltage-gated channel Isk-related subfamily E member 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04971  Gastric acid secretion
Disease
H00720  Long QT syndrome
H00731  Atrial fibrillation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04971 Gastric acid secretion
    9992 (KCNE2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    9992 (KCNE2)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Potassium channel, voltage-gated (Kv)
   9992 (KCNE2)
SSDB
Motif
Pfam: ISK_Channel
Other DBs
NCBI-GeneID: 9992
NCBI-ProteinID: NP_751951
OMIM: 603796
HGNC: 6242
Ensembl: ENSG00000159197
Vega: OTTHUMG00000086189
Pharos: Q9Y6J6(Tbio)
UniProt: Q9Y6J6
LinkDB
Structure
PDB: 
2M0Q

Position
21q22.11
AA seq 123 aa
MSTLSNFTQTLEDVFRRIFITYMDNWRQNTTAEQEALQAKVDAENFYYVILYLMVMIGMF
SFIIVAILVSTVKSKRREHSNDPYHQYIVEDWQEKYKSQILNLEESKATIHENIGAAGFK
MSP
NT seq 372 nt   +upstreamnt  +downstreamnt
atgtctactttatccaatttcacacagacgctggaagacgtcttccgaaggatttttatt
acttatatggacaattggcgccagaacacaacagctgagcaagaggccctccaagccaaa
gttgatgctgagaacttctactatgtcatcctgtacctcatggtgatgattggaatgttc
tctttcatcatcgtggccatcctggtgagcactgtgaaatccaagagacgggaacactcc
aatgacccctaccaccagtacattgtagaggactggcaggaaaagtacaagagccaaatc
ttgaatctagaagaatcgaaggccaccatccatgagaacattggtgcggctgggttcaaa
atgtccccctga

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