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KCNC1 potassium voltage-gated channel subfamily C member 1 [ Homo sapiens (human) ]

Gene ID: 3746, updated on 26-Oct-2020

Summary

Official Symbol
KCNC1provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily C member 1provided by HGNC
Primary source
HGNC:HGNC:6233
See related
Ensembl:ENSG00000129159 MIM:176258
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KV4; EPM7; NGK2; KV3.1
Summary
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]
Expression
Biased expression in brain (RPKM 5.1) and testis (RPKM 0.7) See more
Orthologs

Genomic context

See KCNC1 in Genome Data Viewer
Location:
11p15.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (17734781..17783057)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (17757495..17804602)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13094 Neighboring gene myogenic differentiation 1 Neighboring gene secretion regulating guanine nucleotide exchange factor Neighboring gene uncharacterized LOC107984317 Neighboring gene tryptophan hydroxylase 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epilepsy, progressive myoclonic 7
MedGen: C4015420 OMIM: 616187 GeneReviews: Not available
Compare labs
Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41162, FLJ42249, FLJ43491, MGC129855

Gene Ontology Provided by GOA

Function Evidence Code Pubs
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
delayed rectifier potassium channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ion channel binding IEA
Inferred from Electronic Annotation
more info
 
kinesin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated ion channel activity involved in regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular response to drug IEA
Inferred from Electronic Annotation
more info
 
cerebellum development IEA
Inferred from Electronic Annotation
more info
 
globus pallidus development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of voltage-gated potassium channel activity IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
protein tetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of presynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
response to amine IEA
Inferred from Electronic Annotation
more info
 
response to auditory stimulus IEA
Inferred from Electronic Annotation
more info
 
response to fibroblast growth factor IEA
Inferred from Electronic Annotation
more info
 
response to light intensity IEA
Inferred from Electronic Annotation
more info
 
response to nerve growth factor IEA
Inferred from Electronic Annotation
more info
 
response to potassium ion IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axolemma IEA
Inferred from Electronic Annotation
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calyx of Held IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
dendrite membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuronal cell body membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
potassium voltage-gated channel subfamily C member 1
Names
potassium channel, voltage gated Shaw related subfamily C, member 1
voltage-gated potassium channel protein KV3.1
voltage-gated potassium channel subunit Kv4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_041827.1 RefSeqGene

    Range
    5001..52108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001112741.2NP_001106212.1  potassium voltage-gated channel subfamily C member 1 isoform 1

    See identical proteins and their annotated locations for NP_001106212.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC124056, AC124078, AC124301
    Consensus CDS
    CCDS44547.1
    UniProtKB/Swiss-Prot
    P48547
    Related
    ENSP00000265969.6, ENST00000265969.7
    Conserved Domains (2) summary
    cd18414
    Location:6122
    BTB_KCNC1_3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium voltage-gated channel subfamily C members KCNC1 and KCNC3
    pfam00520
    Location:189447
    Ion_trans; Ion transport protein
  2. NM_004976.4NP_004967.1  potassium voltage-gated channel subfamily C member 1 isoform 2

    See identical proteins and their annotated locations for NP_004967.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two exons and its 3' exon extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC124056, AK125480, AW452561, BC107129, DN993192
    Consensus CDS
    CCDS7827.1
    UniProtKB/Swiss-Prot
    P48547
    UniProtKB/TrEMBL
    Q3KNS8
    Related
    ENSP00000368785.3, ENST00000379472.4
    Conserved Domains (2) summary
    pfam00520
    Location:189447
    Ion_trans; Ion transport protein
    pfam02214
    Location:10104
    BTB_2; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    17734781..17783057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_930866.2 RNA Sequence

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