Human Gene KCNC1 (ENST00000265969.8) from GENCODE V44
  Description: Homo sapiens potassium voltage-gated channel subfamily C member 1 (KCNC1), transcript variant 1, mRNA. (from RefSeq NM_001112741)
RefSeq Summary (NM_001112741): 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].
Gencode Transcript: ENST00000265969.8
Gencode Gene: ENSG00000129159.9
Transcript (Including UTRs)
   Position: hg38 chr11:17,734,781-17,783,057 Size: 48,277 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr11:17,736,003-17,781,734 Size: 45,732 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:17,734,781-17,783,057)mRNA (may differ from genome)Protein (585 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCNC1_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily C member 1; AltName: Full=NGK2; AltName: Full=Voltage-gated potassium channel subunit Kv3.1; AltName: Full=Voltage-gated potassium channel subunit Kv4;
FUNCTION: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient.
SUBUNIT: Heteromultimer with KCNG3, KCNG4 and KCNV2.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
DOMAIN: The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
SIMILARITY: Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KCNC1
Diseases sorted by gene-association score: epilepsy, progressive myoclonic 7* (1579), spinocerebellar ataxia 13 (17), unverricht-lundborg syndrome (5), chromosome 15q13.3 microdeletion syndrome (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 41.59 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 127.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -612.301222-0.501 Picture PostScript Text
3' UTR -388.501323-0.294 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR005821 - Ion_trans_dom
IPR003091 - K_chnl
IPR003968 - K_chnl_volt-dep_Kv
IPR003974 - K_chnl_volt-dep_Kv3
IPR005403 - K_chnl_volt-dep_Kv3.1
IPR003131 - T1-type_BTB

Pfam Domains:
PF00520 - Ion transport protein
PF02214 - BTB/POZ domain

ModBase Predicted Comparative 3D Structure on P48547
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity
GO:0019894 kinesin binding
GO:0044325 ion channel binding

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007420 brain development
GO:0009636 response to toxic substance
GO:0009642 response to light intensity
GO:0010996 response to auditory stimulus
GO:0014075 response to amine
GO:0021549 cerebellum development
GO:0021759 globus pallidus development
GO:0034765 regulation of ion transmembrane transport
GO:0034767 positive regulation of ion transmembrane transport
GO:0035690 cellular response to drug
GO:0035864 response to potassium ion
GO:0051260 protein homooligomerization
GO:0051262 protein tetramerization
GO:0055085 transmembrane transport
GO:0071774 response to fibroblast growth factor
GO:0071805 potassium ion transmembrane transport
GO:1901379 regulation of potassium ion transmembrane transport
GO:1901381 positive regulation of potassium ion transmembrane transport
GO:1903818 positive regulation of voltage-gated potassium channel activity
GO:1990089 response to nerve growth factor

Cellular Component:
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0030673 axolemma
GO:0032589 neuron projection membrane
GO:0032590 dendrite membrane
GO:0032809 neuronal cell body membrane
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  BC107129 - Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1, mRNA (cDNA clone MGC:129855 IMAGE:40024733), complete cds.
AB529092 - Synthetic construct DNA, clone: pF1KB4266, Homo sapiens KCNC1 gene for potassium voltage-gated channel, Shaw-related subfamily, member 1, without stop codon, in Flexi system.
L00621 - Human potassium voltage-gated channel (KCNC1) mRNA.
S56770 - KCNC1=voltage-gated potassium channel [human, mRNA, 1604 nt].
KJ897080 - Synthetic construct Homo sapiens clone ccsbBroadEn_06474 KCNC1 gene, encodes complete protein.
M96747 - Human KCNC1 gene, partial cds.
AK123157 - Homo sapiens cDNA FLJ41162 fis, clone BRACE2039600, highly similar to VOLTAGE-GATED POTASSIUM CHANNEL PROTEIN KV3.1.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P48547 (Reactome details) participates in the following event(s):

R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000265969.1, ENST00000265969.2, ENST00000265969.3, ENST00000265969.4, ENST00000265969.5, ENST00000265969.6, ENST00000265969.7, KCNC1_HUMAN, NM_001112741, P48547, uc009yhc.1, uc009yhc.2, uc009yhc.3, uc009yhc.4
UCSC ID: ENST00000265969.8
RefSeq Accession: NM_001112741
Protein: P48547 (aka KCNC1_HUMAN or KNC1_HUMAN)
CCDS: CCDS44547.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.