KCNQ1

GENE INFORMATION

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Gene name

KCNQ1 (HGNC Symbol)

Synonyms

JLNS1, KCNA8, KCNA9, Kv7.1, KVLQT1, LQT, LQT1

Description

potassium voltage-gated channel, KQT-like subfamily, member 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

Chromosome

11 (Chromosome progress)

Cytoband

p15.4

Chromosome location (bp)

2465914 - 2870339

Ensembl

ENSG00000053918 (version 73.37)

Entrez gene

3784

UniProt

P51787 (UniProt - Evidence at protein level)

neXtProt

NX_P51787

Antibodypedia

KCNQ1 antibodies
 

PROTEIN VIEW

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KCNQ1-001
 
KCNQ1-002
 
KCNQ1-005
 
KCNQ1-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KCNQ1-001 ENSP00000155840
ENST00000155840
P51787
Show all »
Show » Show » 676 74.7 No 6
KCNQ1-002 ENSP00000334497
ENST00000335475
P51787
Show all »
Show » Show » 549 61.5 Yes 5
KCNQ1-005 ENSP00000434560
ENST00000496887
E9PPZ0
Show all »
Show » Show » 193 21.9 No 4
KCNQ1-006 ENSP00000370153
ENST00000380776
F8W824
Show all »
Show » 74 7.9 No 1