KCNA1

KCNA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2AFL
Identifiers
Aliases	KCNA1, AEMK, EA1, HBK1, HUK1, KV1.1, MBK1, MK1, RBK1, potassium voltage-gated channel subfamily A member 1
External IDs	OMIM: 176260 MGI: 96654 HomoloGene: 183 GeneCards: KCNA1
Gene location (Human) Chr. Chromosome 12 (human) Band No data available Start 4,909,893 bp End 4,918,256 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band No data available Start 126,640,397 bp End 126,646,384 bp
Gene ontology Molecular function • potassium channel activity • delayed rectifier potassium channel activity • voltage-gated ion channel activity • potassium ion transmembrane transporter activity • ion channel activity • protein binding • voltage-gated potassium channel activity • disordered domain specific binding Cellular component • axon terminus • juxtaparanode region of axon • integral component of membrane • cytosol • perikaryon • cell projection • membrane • plasma membrane • synapse • integral component of plasma membrane • cell surface • cell junction • neuronal cell body • dendrite • axon • potassium channel complex • apical plasma membrane • endoplasmic reticulum • paranode region of axon • presynaptic membrane • cytoplasmic vesicle • voltage-gated potassium channel complex Biological process • regulation of muscle contraction • detection of mechanical stimulus involved in sensory perception of pain • cellular response to magnesium ion • startle response • regulation of membrane potential • cell communication by electrical coupling • neuronal signal transduction • regulation of ion transmembrane transport • ion transport • magnesium ion homeostasis • potassium ion transport • cellular protein localization • brain development • neuromuscular process • transmembrane transport • potassium ion transmembrane transport • neuroblast proliferation • detection of mechanical stimulus involved in sensory perception of touch • protein homooligomerization • hippocampus development • neuronal action potential • chemical synaptic transmission • positive regulation of voltage-gated potassium channel activity • transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3736	16485
Ensembl	ENSG00000111262	ENSMUSG00000047976
UniProt	Q09470	P16388
RefSeq (mRNA)	NM_000217	NM_010595
RefSeq (protein)	NP_000208	NP_034725
Location (UCSC)	Chr 12: 4.91 – 4.92 Mb	Chr 12: 126.64 – 126.65 Mb
PubMed search

2AFL

3736

16485

ENSG00000111262

ENSMUSG00000047976

Q09470

P16388

NM_000217

NM_010595

NP_000208

NP_034725

Potassium voltage-gated channel subfamily A member 1 also known as K_v1.1 is a shaker related voltage-gated potassium channel that in humans is encoded by the KCNA1 gene. The Isaacs syndrome is a result of an autoimmune reaction against the K_v1.1 ion channel.

The gene is located on the Watson (plus) strand of the short arm of chromosome 12 (12p13.32). The gene itself is 8,348 bases in length and encodes a protein of 495 amino acids (predicted molecular weight 56.466 kiloDaltons).

The recommended name for this protein is potassium voltage-gated channel subfamily A member 1 but a number of alternatives have been used in the literature including HuK1 (human K⁺ channel I), RBK1 (rubidium potassium channel 1), MBK (mouse brain K⁺ channel), voltage gated potassium channel HBK1, voltage gated potassium channel subunit K_v1.1, voltage-gated K⁺ channel HuKI and AEMK (associated with myokymia with periodic ataxia).

...
Wikipedia