KCNC3
Voltage-gated potassium channel KCNC3
Also known as: KCNC3_HUMAN, Kv3.3, SCA13
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14003
- Gene
- KCNC3
- Ensembl
- ENSG00000131398
- Chromosome
- 19
- Canonical length
- 757 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
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]
Canonical amino-acid sequenceUniProt
757 residues, UniProt reviewed canonical sequence.
>Q14003|KCNC3
1 MLSSVCVSSF RGRQGASKQQ PAPPPQPPES PPPPPLPPQQ QQPAQPGPAA SPAGPPAPRG
61 PGDRRAEPCP GLPAAAMGRH GGGGGDSGKI VINVGGVRHE TYRSTLRTLP GTRLAGLTEP
121 EAAARFDYDP GADEFFFDRH PGVFAYVLNY YRTGKLHCPA DVCGPLFEEE LGFWGIDETD
181 VEACCWMTYR QHRDAEEALD SFEAPDPAGA ANAANAAGAH DGGLDDEAGA GGGGLDGAGG
241 ELKRLCFQDA GGGAGGPPGG AGGAGGTWWR RWQPRVWALF EDPYSSRAAR YVAFASLFFI
301 LISITTFCLE THEGFIHISN KTVTQASPIP GAPPENITNV EVETEPFLTY VEGVCVVWFT
361 FEFLMRITFC PDKVEFLKSS LNIIDCVAIL PFYLEVGLSG LSSKAAKDVL GFLRVVRFVR
421 ILRIFKLTRH FVGLRVLGHT LRASTNEFLL LIIFLALGVL IFATMIYYAE RIGADPDDIL
481 GSNHTYFKNI PIGFWWAVVT MTTLGYGDMY PKTWSGMLVG ALCALAGVLT IAMPVPVIVN
541 NFGMYYSLAM AKQKLPKKKN KHIPRPPQPG SPNYCKPDPP PPPPPHPHHG SGGISPPPPI
601 TPPSMGVTVA GAYPAGPHTH PGLLRGGAGG LGIMGLPPLP APGEPCPLAQ EEVIEINRAD
661 PRPNGDPAAA ALAHEDCPAI DQPAMSPEDK SPITPGSRGR YSRDRACFLL TDYAPSPDGS
721 IRKATGAPPL PPQDWRKPGP PSFLPDLNAN AAAWISPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNC3 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)
- 0.51
- Highest tissue expression
- 57 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 57 nTPM
- thyroid gland: 39 nTPM
- cerebral cortex: 23 nTPM
- fallopian tube: 18 nTPM
- pituitary gland: 17 nTPM
- kidney: 14 nTPM
Single-cell type
- proximal tubule cells: 62 nCPM
- endometrial ciliated cells: 57 nCPM
- renal collecting duct principal cells: 55 nCPM
- epididymal efferent duct absorptive cells: 52 nCPM
- renal collecting duct intercalated cells: 50 nCPM
- fallopian secretory cells: 44 nCPM
Immune cell
- plasmacytoid DC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebral cortex: 195 nTPM
- white matter: 78 nTPM
- cerebellum: 74 nTPM
- medulla oblongata: 69 nTPM
- thalamus: 65 nTPM
- pons: 63 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNC3.
Disease | AllUniProt
Conditions KCNC3 is implicated in, by any mechanism.
- Spinocerebellar ataxia 13 (SCA13) MIM:605259
Disease | GeneticClinVar
11 pathogenic / likely-pathogenic of 475 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spinocerebellar ataxia type 13
- Hereditary ataxia
- Inborn genetic diseases
- Tip-toe gait
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)
- 0.59
- gnomAD pLI
- 0.21
- gnomAD missense Z
- 3.04
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- action potential
- cortical actin cytoskeleton organization
- potassium ion transmembrane transport
- potassium ion transport
- protein homooligomerization
- protein tetramerization
Molecular functions
- delayed rectifier potassium channel activity
- metal ion 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, Kv3
- 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, Kv3.3
KeywordsUniProt
- Cell membrane
- Cell projection
- Cytoplasm
- Cytoskeleton
- Glycoprotein
- Ion channel
- Ion transport
- Membrane
- Metal-binding
- Methylation
- Neurodegeneration
- Phosphoprotein
- Postsynaptic cell membrane
- Potassium
- Potassium channel
- Potassium transport
- Spinocerebellar ataxia
- Synapse
- Transmembrane
- Transmembrane helix
- Transport
- Voltage-gated channel
- Zinc
InteractionsUniProt · HPA
Protein binding partners of KCNC3 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 KCNC3 as an antibody target. Whether an autoantibody or antibody against KCNC3 could matter depends on whether native KCNC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNC3 is annotated at the cell surface, where native KCNC3 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 KCNC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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