KCNT1

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Description

Potassium sodium-activated channel subfamily T member 1

Tissue specificity

Tissue enhanced (brain, lymphoid tissue, skeletal muscle)

Predicted location

Intracellular, Membrane

Protein family

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

Chromosome

9 (135702185 - 135795508)

Ensembl ID

ENSG00000107147  (ver. 103.38)

Orthologs

Mouse Kcnt1: ENSMUSG00000058740

UniProt

Q5JUK3

neXtProt

NX_Q5JUK3

Human splice variants
Mouse splice variants

Protein structure