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KCNC4 potassium voltage-gated channel subfamily C member 4 [ Homo sapiens (human) ]

Gene ID: 3749, updated on 5-Aug-2018
Official Symbol
KCNC4provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily C member 4provided by HGNC
Primary source
HGNC:HGNC:6236
See related
Ensembl:ENSG00000116396 MIM:176265; Vega:OTTHUMG00000011037
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
KV3.4; C1orf30; KSHIIIC; HKSHIIIC
Summary
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 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. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
Expression
Ubiquitous expression in brain (RPKM 4.0), kidney (RPKM 3.0) and 24 other tissues See more
Orthologs
See KCNC4 in Genome Data Viewer
Location:
1p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (110210714..110282649)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110753336..110776674)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378897 Neighboring gene solute carrier family 6 member 17 Neighboring gene long intergenic non-protein coding RNA 2586 Neighboring gene RBM15 antisense RNA 1 Neighboring gene uncharacterized LOC112268233 Neighboring gene RNA binding motif protein 15 Neighboring gene solute carrier family 16 member 4

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Potassium Channels, organism-specific biosystem (from REACTOME)
    Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
  • Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
    Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126818

Gene Ontology Provided by GOA

Function Evidence Code Pubs
delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium channel activity TAS
Traceable Author Statement
more info
PubMed 
voltage-gated potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
potassium ion transport TAS
Traceable Author Statement
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon terminus 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 
neuromuscular junction 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 
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 IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
potassium voltage-gated channel subfamily C member 4
Names
K+ channel subunit
potassium channel, voltage gated Shaw related subfamily C, member 4
potassium voltage-gated channel, Shaw-related subfamily, member 4
voltage-gated potassium channel subunit KV3.4

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.

mRNA and Protein(s)

  1. NM_001039574.2NP_001034663.1  potassium voltage-gated channel subfamily C member 4 isoform c

    See identical proteins and their annotated locations for NP_001034663.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AI369490, AK310193, BC025377, BX098184, CK823243, DA111555, DA404087
    Consensus CDS
    CCDS44193.1
    UniProtKB/Swiss-Prot
    Q03721
    Related
    ENSP00000393655.2, OTTHUMP00000229419, ENST00000438661.2, OTTHUMT00000035923
    Conserved Domains (5) summary
    smart00225
    Location:38151
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:276483
    Ion_trans; Ion transport protein
    pfam02214
    Location:38143
    BTB_2; BTB/POZ domain
    pfam07885
    Location:426480
    Ion_trans_2; Ion channel
    pfam11404
    Location:129
    Potassium_chann; Potassium voltage-gated channel
  2. NM_004978.4NP_004969.2  potassium voltage-gated channel subfamily C member 4 isoform a

    See identical proteins and their annotated locations for NP_004969.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AI369490, AK125567, AK310193, BC025377, DA111555, DA404087, DA936036
    Consensus CDS
    CCDS821.1
    UniProtKB/Swiss-Prot
    Q03721
    Related
    ENSP00000358802.3, OTTHUMP00000195596, ENST00000369787.7, OTTHUMT00000052146
    Conserved Domains (5) summary
    smart00225
    Location:38151
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:276483
    Ion_trans; Ion transport protein
    pfam02214
    Location:38143
    BTB_2; BTB/POZ domain
    pfam07885
    Location:426480
    Ion_trans_2; Ion channel
    pfam11404
    Location:129
    Potassium_chann; Potassium voltage-gated channel

RNA

  1. NR_036437.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate segment in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI369490, AK310193, BC025377, BM765446, DA111555, DA404087, DA902474, DA936036

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    110210714..110282649
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710625.4XP_006710688.1  potassium voltage-gated channel subfamily C member 4 isoform X1

    Conserved Domains (5) summary
    smart00225
    Location:38151
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:276483
    Ion_trans; Ion transport protein
    pfam02214
    Location:38143
    BTB_2; BTB/POZ domain
    pfam07885
    Location:426480
    Ion_trans_2; Ion channel
    pfam11404
    Location:129
    Potassium_chann; Potassium voltage-gated channel
  2. XM_011541401.3XP_011539703.1  potassium voltage-gated channel subfamily C member 4 isoform X2

    Conserved Domains (5) summary
    smart00225
    Location:38151
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:276483
    Ion_trans; Ion transport protein
    pfam02214
    Location:38143
    BTB_2; BTB/POZ domain
    pfam07885
    Location:426473
    Ion_trans_2; Ion channel
    pfam11404
    Location:129
    Potassium_chann; Potassium voltage-gated channel
  3. XM_006710627.4XP_006710690.1  potassium voltage-gated channel subfamily C member 4 isoform X5

    UniProtKB/TrEMBL
    H7BZ66
    Related
    ENSP00000388029.3, OTTHUMP00000233377, ENST00000413138.7
    Conserved Domains (5) summary
    smart00225
    Location:38151
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00520
    Location:276483
    Ion_trans; Ion transport protein
    pfam02214
    Location:38143
    BTB_2; BTB/POZ domain
    pfam07885
    Location:426480
    Ion_trans_2; Ion channel
    pfam11404
    Location:129
    Potassium_chann; Potassium voltage-gated channel
  4. XM_011541403.2XP_011539705.1  potassium voltage-gated channel subfamily C member 4 isoform X3

    See identical proteins and their annotated locations for XP_011539705.1

    Conserved Domains (3) summary
    smart00225
    Location:38151
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:38143
    BTB_2; BTB/POZ domain
    pfam11404
    Location:129
    Potassium_chann; Potassium voltage-gated channel
  5. XM_011541404.2XP_011539706.1  potassium voltage-gated channel subfamily C member 4 isoform X4

    Conserved Domains (3) summary
    smart00225
    Location:38151
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:38143
    BTB_2; BTB/POZ domain
    pfam11404
    Location:129
    Potassium_chann; Potassium voltage-gated channel
  6. XM_011541402.2XP_011539704.1  potassium voltage-gated channel subfamily C member 4 isoform X3

    See identical proteins and their annotated locations for XP_011539704.1

    Conserved Domains (3) summary
    smart00225
    Location:38151
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:38143
    BTB_2; BTB/POZ domain
    pfam11404
    Location:129
    Potassium_chann; Potassium voltage-gated channel
  7. XM_024446790.1XP_024302558.1  potassium voltage-gated channel subfamily C member 4 isoform X6

    Conserved Domains (3) summary
    pfam00520
    Location:225483
    Ion_trans; Ion transport protein
    pfam02214
    Location:38143
    BTB_2; BTB/POZ domain
    pfam11404
    Location:129
    Potassium_chann; Potassium voltage-gated channel

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_153763.2: Suppressed sequence

    Description
    NM_153763.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and the transcript appears to retain intronic sequence.
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