KCNA1
Potassium voltage-gated channel subfamily A member 1
Also known as: AEMK, HUK1, KCNA1_HUMAN, Kv1.1, MBK1, RBK1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q09470
- Gene
- KCNA1
- Ensembl
- ENSG00000111262
- Chromosome
- 12
- Canonical length
- 495 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
495 residues, UniProt reviewed canonical sequence.
>Q09470|KCNA1
1 MTVMSGENVD EASAAPGHPQ DGSYPRQADH DDHECCERVV INISGLRFET QLKTLAQFPN
61 TLLGNPKKRM RYFDPLRNEY FFDRNRPSFD AILYYYQSGG RLRRPVNVPL DMFSEEIKFY
121 ELGEEAMEKF REDEGFIKEE ERPLPEKEYQ RQVWLLFEYP ESSGPARVIA IVSVMVILIS
181 IVIFCLETLP ELKDDKDFTG TVHRIDNTTV IYNSNIFTDP FFIVETLCII WFSFELVVRF
241 FACPSKTDFF KNIMNFIDIV AIIPYFITLG TEIAEQEGNQ KGEQATSLAI LRVIRLVRVF
301 RIFKLSRHSK GLQILGQTLK ASMRELGLLI FFLFIGVILF SSAVYFAEAE EAESHFSSIP
361 DAFWWAVVSM TTVGYGDMYP VTIGGKIVGS LCAIAGVLTI ALPVPVIVSN FNYFYHRETE
421 GEEQAQLLHV SSPNLASDSD LSRRSSSTMS KSEYMEIEED MNNSIAHYRQ VNIRTANCTT
481 ANQNCVNKSK LLTDVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 53 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 53 nTPM
- basal ganglia: 30 nTPM
- cerebral cortex: 24 nTPM
- hippocampal formation: 23 nTPM
- amygdala: 6 nTPM
- midbrain: 4.9 nTPM
Single-cell type
- brain excitatory neurons: 1.8 nCPM
- podocytes: 1.3 nCPM
- brain inhibitory neurons: 0.5 nCPM
- respiratory ciliated cells: 0.5 nCPM
- gonadotrophs: 0.4 nCPM
- oligodendrocyte progenitor cells: 0.4 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 104 nTPM
- white matter: 55 nTPM
- cerebellum: 52 nTPM
- pons: 47 nTPM
- thalamus: 45 nTPM
- hippocampal formation: 38 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNA1.
Disease | AllUniProt
Conditions KCNA1 is implicated in, by any mechanism.
- Episodic ataxia 1 (EA1) MIM:160120
- Myokymia isolated 1 (MK1) MIM:160120
Disease | GeneticClinVar
44 pathogenic / likely-pathogenic of 732 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Episodic ataxia type 1
- Inborn genetic diseases
- Myokymia 1
- Myokymia 1 with hypomagnesemia
- Generalized epilepsy-paroxysmal dyskinesia syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.73
- gnomAD pLI
- 0.08
- gnomAD missense Z
- 3.33
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- action potential
- cell communication by electrical coupling
- cellular response to magnesium ion
- detection of mechanical stimulus involved in sensory perception of pain
- detection of mechanical stimulus involved in sensory perception of touch
- hippocampus development
- magnesium ion homeostasis
- membrane repolarization during action potential
- neuroblast proliferation
- neuromuscular process
- neuronal action potential
- neuronal signal transduction
- potassium ion transmembrane transport
- protein homooligomerization
- regulation of membrane potential
- regulation of muscle contraction
- startle response
Molecular functions
- delayed rectifier potassium channel activity
- disordered domain specific binding
- voltage-gated potassium channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- BTB/POZ domain
- Potassium channel tetramerisation-type BTB domain
- Potassium channel, voltage dependent, Kv
- Potassium channel, voltage dependent, Kv1
- Ion transport domain
- SKP1/BTB/POZ domain superfamily
- Voltage-dependent channel domain superfamily
- Voltage-gated potassium channel
- Ion transport protein
- BTB/POZ domain
- Potassium channel, voltage dependent, Kv1.1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KCNA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KCNA1 as an antibody target. Whether an autoantibody or antibody against KCNA1 could matter depends on whether native KCNA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNA1 is annotated at the cell surface, where native KCNA1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label KCNA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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