KCNQ1

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]

Description

Potassium voltage-gated channel subfamily Q member 1

Tissue specificity

Tissue enhanced (adrenal gland, stomach)

Subcell location

Endoplasmic reticulum, Plasma membrane

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters
Voltage-gated ion channels

Chromosome

11 (2444684 - 2849105)

Ensembl ID

ENSG00000053918  (ver. 103.38)

Orthologs

Mouse Kcnq1: ENSMUSG00000009545

UniProt

P51787

neXtProt

NX_P51787

Human splice variants
Mouse splice variants

Protein structure