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Aliases for KCNC1 Gene

Aliases for KCNC1 Gene

  • Potassium Voltage-Gated Channel Subfamily C Member 1 2 3
  • Potassium Channel, Voltage Gated Shaw Related Subfamily C, Member 1 2 3 5
  • Voltage-Gated Potassium Channel Subunit Kv4 3 4
  • NGK2 3 4
  • Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 1 2
  • Voltage-Gated Potassium Channel Protein KV3.1 3
  • Voltage-Gated Potassium Channel Subunit Kv3.1 4
  • KV3.1 3
  • EPM7 3
  • KV4 3

External Ids for KCNC1 Gene

Previous GeneCards Identifiers for KCNC1 Gene

  • GC11P018878
  • GC11P018699
  • GC11P017796
  • GC11P017721
  • GC11P017681
  • GC11P017712
  • GC11P017441

Summaries for KCNC1 Gene

Entrez Gene Summary for KCNC1 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]

GeneCards Summary for KCNC1 Gene

KCNC1 (Potassium Voltage-Gated Channel Subfamily C Member 1) is a Protein Coding gene. Diseases associated with KCNC1 include Epilepsy, Progressive Myoclonic 7 and Spinocerebellar Ataxia 13. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNA10.

UniProtKB/Swiss-Prot for KCNC1 Gene

  • 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. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.

Tocris Summary for KCNC1 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNC1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNC1 Gene

Genomics for KCNC1 Gene

Regulatory Elements for KCNC1 Gene

Enhancers for KCNC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCNC1 on UCSC Golden Path with GeneCards custom track

Promoters for KCNC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNC1 Gene

Chromosome:
11
Start:
17,734,812 bp from pter
End:
17,864,288 bp from pter
Size:
129,477 bases
Orientation:
Plus strand

Genomic View for KCNC1 Gene

Genes around KCNC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNC1 Gene

Proteins for KCNC1 Gene

  • Protein details for KCNC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48547-KCNC1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily C member 1
    Protein Accession:
    P48547
    Secondary Accessions:
    • K4DI87

    Protein attributes for KCNC1 Gene

    Size:
    511 amino acids
    Molecular mass:
    57942 Da
    Quaternary structure:
    • Heteromultimer with KCNG3, KCNG4 and KCNV2. Heteromultimer with KCNC2 (By similarity). Heterotetramer with KCNC3 (PubMed:23734863).

    Alternative splice isoforms for KCNC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNC1 Gene

Proteomics data for KCNC1 Gene at MOPED

Post-translational modifications for KCNC1 Gene

  • Glycosylation at Asn 220 and Asn 229
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for KCNC1 (Potassium Channel Kv3.1)

No data available for DME Specific Peptides for KCNC1 Gene

Domains & Families for KCNC1 Gene

Gene Families for KCNC1 Gene

Suggested Antigen Peptide Sequences for KCNC1 Gene

Graphical View of Domain Structure for InterPro Entry

P48547

UniProtKB/Swiss-Prot:

KCNC1_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
Family:
  • Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily.
genes like me logo Genes that share domains with KCNC1: view

Function for KCNC1 Gene

Molecular function for KCNC1 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila Shaw-related family,member 1 (mouse Kv3.1 homolog)
UniProtKB/Swiss-Prot 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. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.
genes like me logo Genes that share phenotypes with KCNC1: view

Human Phenotype Ontology for KCNC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNC1 Gene

MGI Knock Outs for KCNC1:

Animal Model Products

miRNA for KCNC1 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KCNC1 Gene

Localization for KCNC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNC1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNC1 Gene COMPARTMENTS Subcellular localization image for KCNC1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for KCNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with KCNC1: view

Pathways & Interactions for KCNC1 Gene

genes like me logo Genes that share pathways with KCNC1: view

Pathways by source for KCNC1 Gene

1 Qiagen pathway for KCNC1 Gene

Gene Ontology (GO) - Biological Process for KCNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport TAS 8449507
GO:0009636 response to toxic substance IEA --
GO:0009642 response to light intensity IEA --
GO:0010996 response to auditory stimulus IEA --
GO:0014075 response to amine IEA --
genes like me logo Genes that share ontologies with KCNC1: view

No data available for SIGNOR curated interactions for KCNC1 Gene

Drugs & Compounds for KCNC1 Gene

(4) Drugs for KCNC1 Gene - From: DrugBank, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dalfampridine Approved Pharma Pore Blocker, Target, antagonist 65
tetraethylammonium Experimental Pharma Inhibitor 1
Flupirtine maleate Pharma KV7 channel activator 0

(4) Additional Compounds for KCNC1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4

(5) Tocris Compounds for KCNC1 Gene

Compound Action Cas Number
Flupirtine maleate KV7 channel activator 75507-68-5
L-364,373 KV7.1 channel activator, activates IKs 103342-82-1
NS 1643 KV11.1 (hERG) channel activator; antiarrhythmic 448895-37-2
NS 5806 KV4.3 channel activator 426834-69-7
PD 118057 Selective KV11.1 (hERG) channel activator 313674-97-4
genes like me logo Genes that share compounds with KCNC1: view

Transcripts for KCNC1 Gene

mRNA/cDNA for KCNC1 Gene

(6) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNC1 Gene

Potassium voltage-gated channel, Shaw-related subfamily, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNC1 Gene

No ASD Table

Relevant External Links for KCNC1 Gene

GeneLoc Exon Structure for
KCNC1
ECgene alternative splicing isoforms for
KCNC1

Expression for KCNC1 Gene

mRNA expression in normal human tissues for KCNC1 Gene

mRNA differential expression in normal tissues according to GTEx for KCNC1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x14.4), Brain - Cerebellum (x13.5), Brain - Frontal Cortex (BA9) (x4.6), and Brain - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for KCNC1 Gene

This gene is overexpressed in Frontal cortex (63.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNC1 Gene



SOURCE GeneReport for Unigene cluster for KCNC1 Gene Hs.552896

genes like me logo Genes that share expression patterns with KCNC1: view

Protein tissue co-expression partners for KCNC1 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for KCNC1 Gene

Orthologs for KCNC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNC1 35
  • 95.5 (n)
  • 99.32 (a)
KCNC1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNC1 35
  • 95.67 (n)
  • 99.15 (a)
KCNC1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnc1 35
  • 94.47 (n)
  • 99.83 (a)
Kcnc1 16
Kcnc1 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNC1 35
  • 99.89 (n)
  • 100 (a)
KCNC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnc1 35
  • 94.19 (n)
  • 99.83 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNC1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNC1 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNC1 35
  • 85.87 (n)
  • 96.24 (a)
KCNC1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNC1 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75960 35
zebrafish
(Danio rerio)
Actinopterygii kcnc1a 35
  • 74.81 (n)
  • 82.53 (a)
myod 35
kcnc1a 36
  • 78 (a)
OneToMany
kcnc1b 36
  • 74 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11621 35
fruit fly
(Drosophila melanogaster)
Insecta CG4450 37
  • 45 (a)
Shaw 37
  • 50 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008201 35
  • 61.19 (n)
  • 52.38 (a)
worm
(Caenorhabditis elegans)
Secernentea shw-3 37
  • 44 (a)
egl-36 35
  • 52.87 (n)
  • 50.49 (a)
Species with no ortholog for KCNC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNC1 Gene

ENSEMBL:
Gene Tree for KCNC1 (if available)
TreeFam:
Gene Tree for KCNC1 (if available)

Paralogs for KCNC1 Gene

(21) SIMAP similar genes for KCNC1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KCNC1: view

Variants for KCNC1 Gene

Sequence variations from dbSNP and Humsavar for KCNC1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_072705 Epilepsy, progressive myoclonic 7 (EPM7)
rs739993 -- 17,743,723(-) TGGCG(C/G)AAGGG intron-variant
rs757511 -- 17,752,926(-) AACCA(C/T)CTCCA intron-variant
rs757512 -- 17,752,488(-) TCTGC(A/G)TGTTT intron-variant
rs757513 -- 17,749,557(-) CCTGG(C/T)GGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNC1 Gene

Variant ID Type Subtype PubMed ID
nsv825772 CNV Gain 20364138
nsv509390 CNV Insertion 20534489
nsv521511 CNV Loss 19592680
nsv516767 CNV Loss 19592680
nsv825773 CNV Loss 20364138
nsv832078 CNV Loss 17160897

Variation tolerance for KCNC1 Gene

Residual Variation Intolerance Score: 10.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNC1 Gene

Human Gene Mutation Database (HGMD)
KCNC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNC1 Gene

Disorders for KCNC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KCNC1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic 7
  • progressive myoclonic epilepsy type 7
spinocerebellar ataxia 13
  • spinocerebellar ataxia type 13
- elite association - COSMIC cancer census association via MalaCards
Search KCNC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNC1_HUMAN
  • Epilepsy, progressive myoclonic 7 (EPM7) [MIM:616187]: A neurologic disorder characterized by progressive myoclonic epilepsy, manifesting in the first or second decades of life. Cognitive function may decline in some patients. Myoclonus is a brief, involuntary twitching of a muscle or a group of muscles. {ECO:0000269 PubMed:25401298}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNC1

Genetic Association Database (GAD)
KCNC1
Human Genome Epidemiology (HuGE) Navigator
KCNC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNC1
genes like me logo Genes that share disorders with KCNC1: view

No data available for Genatlas for KCNC1 Gene

Publications for KCNC1 Gene

  1. Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15. (PMID: 8449507) Ried T. … Sen K. (Genomics 1993) 2 3 4 23 67
  2. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman G.A. … Wang X. (Pharmacol. Rev. 2005) 2 3
  3. The Shaw-related potassium channel gene, Kv3.1, on human chromosome 11, encodes the type l K+ channel in T cells. (PMID: 1400413) Grissmer S. … Chandy K.G. (J. Biol. Chem. 1992) 3 23
  4. Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs. (PMID: 23628987) Yanagi M. … Tamminga C.A. (Mol. Psychiatry 2014) 3
  5. Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways. (PMID: 24143882) Gelernter J. … Farrer L.A. (Biol. Psychiatry 2014) 3

Products for KCNC1 Gene

Sources for KCNC1 Gene

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