Aliases for KCNT1 Gene
External Ids for KCNT1 Gene
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]
GeneCards Summary for KCNT1 Gene
KCNT1 (Potassium Channel, Sodium Activated Subfamily T, Member 1) is a Protein Coding gene. Diseases associated with KCNT1 include epileptic encephalopathy, early infantile, 14 and form agnosia. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated potassium channel activity and calcium-activated potassium channel activity. An important paralog of this gene is KCNT2.
UniProtKB/Swiss-Prot for KCNT1 Gene
Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity).
Ca2+-activated potassium channels (KCa) are a group of 6/7-TM ion channels that selectively transport K+ ions across biological membranes. They are broadly classified into three subtypes, SK, IK and BK channels, based on their conductance (small, intermediate and big conductance respectively). The small conductance KCa channels (KCa2.1, 2.2 and 2.3, also known as SK1, SK2 and SK3 respectively) and the intermediate conductance KCa channel (KCa3.1, also known as SK4) are voltage-insensitive and are activated by Ca2+-calmodulin. Both play important roles in many processes involving Ca2+-dependent signalling in both electrically excitable and non-excitable cells. The BK family of KCa channels (also known as Slo or Maxi-K channels) are also voltage-sensitive and include KCa1.1 (Slo1), KCa4.1 (Slo2.2), KCa4.2 (Slo2.1) and KCa5.1 (Slo3). These channels do not require calmodulin for activation as they contain three direct bivalent cation binding sites.