KCNQ1, potassium voltage-gated channel subfamily Q member 1

KCNQ1, potassium voltage-gated channel subfamily Q member 1

• 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]

• Gene Synonyms (ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS, potassium voltage-gated channel subfamily KQT member 1, IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1, kidney and cardiac voltage dependend K+ channel, potassium channel, voltage gated KQT-like subfamily Q, member 1, potassium voltage-gated channel, KQT-like subfamily, member 1, slow delayed rectifier channel subunit, voltage-gated potassium channel subunit Kv7.1,)
• NCBI Gene ID: 3784
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P51787
  UNIPROT ID#>>Q96AI9
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

potassium voltage-gated channel subfamily Q member 1 interacts with:

• A-kinase anchoring protein 9
  beta-secretase 1
  NEDD4 E3 ubiquitin protein ligase
  NEDD4 like E3 ubiquitin protein ligase
  potassium voltage-gated channel subfamily E regulatory subunit 2
  potassium voltage-gated channel subfamily E regulatory subunit 4
  potassium voltage-gated channel subfamily Q member 2
  protein kinase cAMP-activated catalytic subunit alpha
  protein kinase cAMP-dependent type II regulatory subunit alpha
  protein phosphatase 1 catalytic subunit alpha
  TNF receptor associated factor 6
  ubiquitin specific peptidase 2

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.