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Aliases for KCNV1 Gene

Aliases for KCNV1 Gene

  • Potassium Voltage-Gated Channel Modifier Subfamily V Member 1 2 3 5
  • Potassium Channel, Voltage Gated Modifier Subfamily V, Member 1 2 3
  • Neuronal Potassium Channel Alpha Subunit HNKA 3 4
  • Voltage-Gated Potassium Channel Subunit Kv8.1 3 4
  • Potassium Channel, Subfamily V, Member 1 2 3
  • Potassium Voltage-Gated Channel Subfamily V Member 1 3
  • Potassium Channel Kv8.1 3
  • KCNB3 3
  • KV2.3 3
  • KV8.1 3
  • HNKA 3

External Ids for KCNV1 Gene

Previous GeneCards Identifiers for KCNV1 Gene

  • GC08M111046
  • GC08M110648
  • GC08M110935
  • GC08M111048
  • GC08M106302

Summaries for KCNV1 Gene

Entrez Gene Summary for KCNV1 Gene

  • Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNV1 Gene

KCNV1 (Potassium Voltage-Gated Channel Modifier Subfamily V Member 1) is a Protein Coding gene. Diseases associated with KCNV1 include Benign Adult Familial Myoclonic Epilepsy and Neonatal Period Electroclinical Syndrome. Among its related pathways are Sweet Taste Signaling and Potassium Channels. GO annotations related to this gene include ion channel activity and potassium channel regulator activity. An important paralog of this gene is KCNB1.

UniProtKB/Swiss-Prot for KCNV1 Gene

  • Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes.

Tocris Summary for KCNV1 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 KCNV1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNV1 Gene

Genomics for KCNV1 Gene

Regulatory Elements for KCNV1 Gene

Enhancers for KCNV1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F109584 1.3 FANTOM5 Ensembl ENCODE 2.2 +388.4 388400 5.7 JUN ZNF664 ZNF316 GATA3 CTBP1 SCRT2 RCOR1 NFE2 FOS MAFK SYBU PKHD1L1 EBAG9 KCNV1 GC08P109564 LOC100132813
GH08F109975 0.5 ENCODE 0.8 +0.1 61 0.2 MAZ NRF1 CBX2 MNT ZNF217 CTBP1 ZNF341 SCRT2 FOS TCF7L2 KCNV1 ENSG00000255402
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KCNV1 on UCSC Golden Path with GeneCards custom track

Promoters for KCNV1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001904364 146 600 MAZ NRF1 CBX2 MNT ZNF217 CTBP1 ZNF341 SCRT2 FOS TCF7L2
ENSR00001904363 1347 201 CTCF MAZ SP3 RNF2 CHD1 REST EBF1 SREBF1 E2F1 ZBTB48

Genomic Location for KCNV1 Gene

Chromosome:
8
Start:
109,963,636 bp from pter
End:
109,975,847 bp from pter
Size:
12,212 bases
Orientation:
Minus strand

Genomic View for KCNV1 Gene

Genes around KCNV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNV1 Gene

Proteins for KCNV1 Gene

  • Protein details for KCNV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PIU1-KCNV1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily V member 1
    Protein Accession:
    Q6PIU1
    Secondary Accessions:
    • Q9UHJ4

    Protein attributes for KCNV1 Gene

    Size:
    500 amino acids
    Molecular mass:
    56304 Da
    Quaternary structure:
    • Heteromultimer with KCNB1 and KCNB2. Interacts with KCNC4 and KCND1.

neXtProt entry for KCNV1 Gene

Post-translational modifications for KCNV1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNV1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNV1 Gene

Domains & Families for KCNV1 Gene

Gene Families for KCNV1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6PIU1

UniProtKB/Swiss-Prot:

KCNV1_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. V (TC 1.A.1.2) subfamily. Kv8.1/KCNV1 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.
Family:
  • Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.1/KCNV1 sub-subfamily.
genes like me logo Genes that share domains with KCNV1: view

Function for KCNV1 Gene

Molecular function for KCNV1 Gene

UniProtKB/Swiss-Prot Function:
Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes.

Gene Ontology (GO) - Molecular Function for KCNV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0005251 delayed rectifier potassium channel activity IBA --
GO:0005267 potassium channel activity IEA --
GO:0008200 ion channel inhibitor activity TAS 8670833
genes like me logo Genes that share ontologies with KCNV1: view
genes like me logo Genes that share phenotypes with KCNV1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNV1

miRNA for KCNV1 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNV1 Gene

Localization for KCNV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNV1 Gene

Cell membrane; Multi-pass membrane protein. Note=Has to be associated with another potassium channel subunit to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB2.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNV1 Gene COMPARTMENTS Subcellular localization image for KCNV1 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for KCNV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8670833
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNV1: view

Pathways & Interactions for KCNV1 Gene

genes like me logo Genes that share pathways with KCNV1: view

Gene Ontology (GO) - Biological Process for KCNV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 8670833
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCNV1: view

No data available for SIGNOR curated interactions for KCNV1 Gene

Drugs & Compounds for KCNV1 Gene

(4) Drugs for KCNV1 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker potassium channel-blocking agent, Non-selective KV channel blocker 68
E-4031 dihydrochloride Pharma KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 0
Linopirdine dihydrochloride Pharma KV7 (KCNQ) channel blocker 0
XE 991 dihydrochloride Pharma Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 0

(1) Additional Compounds for KCNV1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNV1 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
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
genes like me logo Genes that share compounds with KCNV1: view

Transcripts for KCNV1 Gene

mRNA/cDNA for KCNV1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNV1 Gene

Potassium channel, subfamily V, member 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNV1 Gene

No ASD Table

Relevant External Links for KCNV1 Gene

GeneLoc Exon Structure for
KCNV1
ECgene alternative splicing isoforms for
KCNV1

Expression for KCNV1 Gene

mRNA expression in normal human tissues for KCNV1 Gene

mRNA differential expression in normal tissues according to GTEx for KCNV1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x14.5), Brain - Cortex (x10.5), Brain - Anterior cingulate cortex (BA24) (x10.1), and Brain - Amygdala (x5.0).

NURSA nuclear receptor signaling pathways regulating expression of KCNV1 Gene:

KCNV1

SOURCE GeneReport for Unigene cluster for KCNV1 Gene:

Hs.13285

mRNA Expression by UniProt/SwissProt for KCNV1 Gene:

Q6PIU1-KCNV1_HUMAN
Tissue specificity: Detected in brain.
genes like me logo Genes that share expression patterns with KCNV1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for KCNV1 Gene

Orthologs for KCNV1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNV1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNV1 34 35
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia KCNV1 35
  • 98 (a)
OneToOne
LOC482009 34
  • 93.07 (n)
cow
(Bos Taurus)
Mammalia KCNV1 34 35
  • 91.13 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNV1 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNV1 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnv1 34 16 35
  • 88.98 (n)
rat
(Rattus norvegicus)
Mammalia Kcnv1 34
  • 88.58 (n)
chicken
(Gallus gallus)
Aves KCNV1 34 35
  • 74.83 (n)
lizard
(Anolis carolinensis)
Reptilia KCNV1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487006 34
  • 67.59 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC559915 34
  • 66.6 (n)
KCNV1 35
  • 64 (a)
OneToOne
Species where no ortholog for KCNV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for KCNV1 Gene

ENSEMBL:
Gene Tree for KCNV1 (if available)
TreeFam:
Gene Tree for KCNV1 (if available)

Paralogs for KCNV1 Gene

Paralogs for KCNV1 Gene

(19) SIMAP similar genes for KCNV1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNV1: view

Variants for KCNV1 Gene

Sequence variations from dbSNP and Humsavar for KCNV1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs10098219 -- 109,969,295(+) CCCTA(C/G)TCCTT intron-variant
rs1032890 -- 109,971,536(-) CATAT(A/G)ACACA intron-variant
rs111279680 -- 109,965,383(+) GCAGA(A/G)TTCCT utr-variant-3-prime
rs111299141 -- 109,977,208(+) AGGTA(C/T)TGAAA upstream-variant-2KB
rs111783738 -- 109,965,375(+) TAAAA(C/T)TGGCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for KCNV1 Gene

Variant ID Type Subtype PubMed ID
nsv6347 CNV deletion 18451855
nsv831421 CNV gain 17160897

Variation tolerance for KCNV1 Gene

Residual Variation Intolerance Score: 24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNV1 Gene

Human Gene Mutation Database (HGMD)
KCNV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNV1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNV1 Gene

Disorders for KCNV1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KCNV1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KCNV1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNV1

Genetic Association Database (GAD)
KCNV1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNV1
genes like me logo Genes that share disorders with KCNV1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNV1 Gene

Publications for KCNV1 Gene

  1. Kv8.1, a new neuronal potassium channel subunit with specific inhibitory properties towards Shab and Shaw channels. (PMID: 8670833) Hugnot J.-P. … Lazdunski M. (EMBO J. 1996) 2 3 4 64
  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 64
  3. Structural characterization and promoter analysis of human potassium channel Kv8.1 (KCNV1) gene. (PMID: 14697513) Ebihara M. … Yoshikawa T. (Gene 2004) 3 22 64
  4. Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy. (PMID: 12383276) Sano A. … Kaneko S. (Epilepsia 2002) 3 4 64
  5. Modes of regulation of shab K+ channel activity by the Kv8.1 subunit. (PMID: 9079713) Salinas M. … Hugnot J.-P. (J. Biol. Chem. 1997) 3 4 64

Products for KCNV1 Gene

Sources for KCNV1 Gene

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