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Aliases for KCNC1 Gene

Aliases for KCNC1 Gene

  • Potassium Channel, Voltage Gated Shaw Related Subfamily C, Member 1 2 3
  • Voltage-Gated Potassium Channel Subunit Kv4 3 4
  • NGK2 3 4
  • Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 1 2
  • Potassium Voltage-Gated Channel Subfamily C Member 1 3
  • 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 Channel, Voltage Gated Shaw Related Subfamily C, Member 1) is a Protein Coding gene. Diseases associated with KCNC1 include epilepsy, progressive myoclonic 7. Among its related pathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include voltage-gated potassium 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

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 pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

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

Genomic Location for KCNC1 Gene

Start:
17,734,812 bp from pter
End:
17,783,055 bp from pter
Size:
48,244 bases
Orientation:
Plus strand

Genomic View for KCNC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

    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 Asn220 and Asn229
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNC1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNC1 Gene

Domains for KCNC1 Gene

Gene Families for KCNC1 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

Suggested Antigen Peptide Sequences for KCNC1 Gene

Graphical View of Domain Structure for InterPro Entry

P48547

UniProtKB/Swiss-Prot:

KCNC1_HUMAN :
  • P48547
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

Gene Ontology (GO) - Molecular Function for KCNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005249 voltage-gated potassium channel activity TAS 8449507
GO:0005251 delayed rectifier potassium channel activity IBA --
GO:0005515 protein binding --
GO:0019894 kinesin binding IEA --
genes like me logo Genes that share ontologies with KCNC1: view
genes like me logo Genes that share phenotypes with KCNC1: view

Animal Models for KCNC1 Gene

MGI Knock Outs for KCNC1:

miRNA for KCNC1 Gene

miRTarBase miRNAs that target KCNC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for KCNC1 Gene

Localization for KCNC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNC1 Gene

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 4
nucleus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for KCNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IBA --
GO:0030673 axolemma IEA --
genes like me logo Genes that share ontologies with KCNC1: view

Pathways 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:0006811 ion transport --
GO:0006813 potassium ion transport TAS 8449507
GO:0007268 synaptic transmission TAS --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCNC1: view

Compounds for KCNC1 Gene

(5) Tocris Compounds for KCNC1 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker [504-24-5]
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
Margatoxin Potent KV1.3 channel blocker [145808-47-5]
MaxiPost Potassium channel modulator; exerts subtype-specific effects [187523-35-9]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents [122955-13-9]

(2) IUPHAR Ligand for KCNC1 Gene

Ligand Type Action Affinity Pubmed IDs
4-aminopyridine Inhibitor None
tetraethylammonium Inhibitor None

(1) Novoseek inferred chemical compound relationships for KCNC1 Gene

Compound -log(P) Hits PubMed IDs
potassium 62.2 4
genes like me logo Genes that share compounds with KCNC1: view

Transcripts for KCNC1 Gene

mRNA/cDNA for KCNC1 Gene

(5) Selected AceView cDNA sequences:
(6) REFSEQ mRNAs :
(7) Additional mRNA 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 (14.4), Brain - Cerebellum (13.5), Brain - Frontal Cortex (BA9) (4.6), and Brain - Cortex (4.2).

Integrated Proteomics: protein expression 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 expressions with KCNC1: view

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
chimpanzee
(Pan troglodytes)
Mammalia KCNC1 35
  • 99.89 (n)
  • 100 (a)
KCNC1 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia KCNC1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNC1 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnc1 35
  • 94.19 (n)
  • 99.83 (a)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11621 35
zebrafish
(Danio rerio)
Actinopterygii kcnc1a 35
  • 74.81 (n)
  • 82.53 (a)
kcnc1a 36
  • 78 (a)
OneToMany
kcnc1b 36
  • 74 (a)
OneToMany
myod 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008201 35
  • 61.19 (n)
  • 52.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta Shaw 37
  • 50 (a)
CG4450 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-36 35
  • 52.87 (n)
  • 50.49 (a)
shw-3 37
  • 44 (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

Selected 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 MAF
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
rs757514 -- 17,749,401(-) TATGG(C/T)AGCCC 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

Relevant External Links for KCNC1 Gene

HapMap Linkage Disequilibrium report
KCNC1
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

MalaCards: The human disease database. (1) Diseases for KCNC1 Gene including...

Search for KCNC1 Gene in MalaCards »

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

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
  2. 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 4 23
  3. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. (PMID: 25401298) Muona M. … Lehesjoki A.E. (Nat. Genet. 2014) 3 4
  4. 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
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48

Products for KCNC1 Gene

Sources for KCNC1 Gene

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