Seroatlas · Human Serome Atlas

KCNC1

Voltage-gated potassium channel KCNC1

Also known as: KCNC1_HUMAN, Kv3.1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P48547
Gene
KCNC1
Ensembl
ENSG00000129159
Chromosome
11
Canonical length
511 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
Subcellular location
Nucleoplasm,Nuclear membrane,Vesicles,Cytosol
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both """"""""""""""""""""""""""""""""b"""""""""""""""""""""""""""""""" and """"""""""""""""""""""""""""""""alpha"""""""""""""""""""""""""""""""", while the shorter isoform has been called both """"""""""""""""""""""""""""""""a"""""""""""""""""""""""""""""""" and """"""""""""""""""""""""""""""""beta"""""""""""""""""""""""""""""""" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]

Canonical amino-acid sequenceUniProt

511 residues, UniProt reviewed canonical sequence.

>P48547|KCNC1
     1  MGQGDESERI VINVGGTRHQ TYRSTLRTLP GTRLAWLAEP DAHSHFDYDP RADEFFFDRH
    61  PGVFAHILNY YRTGKLHCPA DVCGPLYEEE LAFWGIDETD VEPCCWMTYR QHRDAEEALD
   121  SFGGAPLDNS ADDADADGPG DSGDGEDELE MTKRLALSDS PDGRPGGFWR RWQPRIWALF
   181  EDPYSSRYAR YVAFASLFFI LVSITTFCLE THERFNPIVN KTEIENVRNG TQVRYYREAE
   241  TEAFLTYIEG VCVVWFTFEF LMRVIFCPNK VEFIKNSLNI IDFVAILPFY LEVGLSGLSS
   301  KAAKDVLGFL RVVRFVRILR IFKLTRHFVG LRVLGHTLRA STNEFLLLII FLALGVLIFA
   361  TMIYYAERIG AQPNDPSASE HTHFKNIPIG FWWAVVTMTT LGYGDMYPQT WSGMLVGALC
   421  ALAGVLTIAM PVPVIVNNFG MYYSLAMAKQ KLPKKKKKHI PRPPQLGSPN YCKSVVNSPH
   481  HSTQSDTCPL AQEEILEINR AGRKPLRGMS I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNC1 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)
0.38
Highest tissue expression
99 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 99 nTPM
  • cerebral cortex: 18 nTPM
  • hypothalamus: 8.1 nTPM
  • retina: 6.4 nTPM
  • basal ganglia: 6.3 nTPM
  • amygdala: 5.4 nTPM

Single-cell type

  • retinal amacrine cells: 311 nCPM
  • brain excitatory neurons: 118 nCPM
  • retinal ganglion cells: 108 nCPM
  • brain inhibitory neurons: 86 nCPM
  • epicardial cells: 82 nCPM
  • retinal bipolar cells: 69 nCPM

Immune cell

  • basophil: 3.3 nTPM
  • neutrophil: 1.3 nTPM
  • eosinophil: 0.4 nTPM
  • naive B-cell: 0.4 nTPM
  • classical monocyte: 0.3 nTPM
  • gdT-cell: 0.3 nTPM

Brain region

  • cerebral cortex: 163 nTPM
  • cerebellum: 149 nTPM
  • white matter: 100 nTPM
  • thalamus: 87 nTPM
  • pons: 83 nTPM
  • hypothalamus: 76 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNC1.

Disease | AllUniProt

Conditions KCNC1 is implicated in, by any mechanism.

  • Epilepsy, progressive myoclonic 7 (EPM7) MIM:616187

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 535 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.26
gnomAD pLI
0.99
gnomAD missense Z
4.52
DepMap mean gene effect
-0.13
DepMap dependency class
selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KCNC1 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 KCNC1 as an antibody target. Whether an autoantibody or antibody against KCNC1 could matter depends on whether native KCNC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCNC1 is annotated at the cell surface, where native KCNC1 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 KCNC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KCNC1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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