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... See more...

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
  • Potassium Voltage-Gated Channel Subfamily V Member 1 3 4
  • 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 Channel Kv8.1 3
  • KCNB3 3
  • KV2.3 3
  • KV8.1 3
  • KCNV1 5
  • Kv8.1 2
  • 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 Atrial Septal Defect 5 and Familial Adult Myoclonic Epilepsy. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Sweet Taste Signaling. Gene Ontology (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 Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNV1 Gene

Genomics for KCNV1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNV1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J109974 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 250.7 +0.9 870 2.2 ZNF341 CTCF HES1 ELF1 REST CTBP1 ZBTB48 TCF7L2 ZNF217 ZNF189 ENSG00000253122 ENSG00000255402 KCNV1 SYBU
GH08J109584 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 2.2 +388.5 388521 6.3 CEBPA ZNF10 YY1 EP300 FOXA2 CTBP1 MAFF RXRA CUX1 ZNF316 SYBU PKHD1L1 EBAG9 KCNV1 piR-38756-029 HSALNG0067726 lnc-NUDCD1-2
GH08J110059 Enhancer 0.9 ENCODE 0.2 -85.0 -85040 1.7 POLR2A TRIM22 HOMEZ CTCF KMT2B THAP11 ELF1 FOXA2 RXRA SMAD4 HSALNG0067740 HSALNG0067742 ENSG00000253122 KCNV1
GH08J110160 Enhancer 0.9 Ensembl ENCODE 0.1 -185.5 -185507 1.6 CEBPA ATF3 YY1 FOXA2 KDM6A RXRA SAP130 RARA DMAP1 FOSL2 HSALNG0067745 piR-41594-055 ENSG00000253122 KCNV1
GH08J109998 Enhancer 0.2 Ensembl 0.4 -23.2 -23230 0.8 piR-57460-655 KCNV1 ENSG00000253122 ENSG00000255402 HSALNG0067740
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNV1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNV1

Top Transcription factor binding sites by QIAGEN in the KCNV1 gene promoter:
  • C/EBPalpha
  • En-1
  • HFH-1
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha2
  • SRY

Genomic Locations for KCNV1 Gene

Latest Assembly
chr8:109,963,636-109,975,771
(GRCh38/hg38)
Size:
12,136 bases
Orientation:
Minus strand

Previous Assembly
chr8:110,975,865-110,988,000
(GRCh37/hg19 by Entrez Gene)
Size:
12,136 bases
Orientation:
Minus strand

chr8:110,975,874-110,988,076
(GRCh37/hg19 by Ensembl)
Size:
12,203 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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for KCNV1 Gene

InterPro:
Blocks:
  • BTB/POZ domain
  • Potassium channel signature
  • Kv8 potassium channel alpha subunit signature

Suggested Antigen Peptide Sequences for KCNV1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53836, highly similar to Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA (B4DMC1_HUMAN)
  • Voltage-gated potassium channel subunit Kv8.1 (KCNV1_HUMAN)
  • Potassium channel subfamily V member 1 (Q76FP2_HUMAN)

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.

Phenotypes From GWAS Catalog for KCNV1 Gene

Gene Ontology (GO) - Molecular Function for KCNV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IBA 21873635
GO:0005267 potassium channel activity IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KCNV1: view
genes like me logo Genes that share phenotypes with KCNV1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for KCNV1

miRNA for KCNV1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNV1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNV1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

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 IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with KCNV1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNV1 Gene

Pathways & Interactions for KCNV1 Gene

PathCards logo

SuperPathways for KCNV1 Gene

SuperPathway Contained pathways
1 Sweet Taste Signaling
.72
.72
.46
.44
.37
2 Activation of cAMP-Dependent PKA
.77
.77
.56
3 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
4 Hepatic ABC Transporters
.41
.41
5 Potassium Channels
genes like me logo Genes that share pathways with KCNV1: view

Pathways by source for KCNV1 Gene

13 Qiagen pathways for KCNV1 Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • Bitter Taste Signaling
  • cAMP Pathway
  • Cellular Effects of Sildenafil

Gene Ontology (GO) - Biological Process for KCNV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0055085 transmembrane transport 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

(6) Drugs for KCNV1 Gene - From: DrugBank and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2
Miconazole Approved, Investigational, Vet_approved Pharma Target, inhibitor 3164
Promethazine Approved, Investigational Pharma Target, inducer 494
Chromanol 293B Pharma IKs blocker. Also blocks ICFTR 0
Flupirtine maleate Pharma KV7 channel activator 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Kaliotoxin
145199-73-1

(4) Tocris Compounds for KCNV1 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNV1: view

Transcripts for KCNV1 Gene

mRNA/cDNA for KCNV1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNV1

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

No ASD Table

Relevant External Links for KCNV1 Gene

GeneLoc Exon Structure for
KCNV1

Expression for KCNV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for KCNV1 Gene

  • Nervous system(4.9)
  • Kidney(4)
genes like me logo Genes that share expression patterns with KCNV1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNV1 30
  • 98 (a)
OneToOne
LOC482009 29
  • 93.07 (n)
Cow
(Bos Taurus)
Mammalia KCNV1 29 30
  • 91.13 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCNV1 30
  • 89 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCNV1 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Kcnv1 29 16 30
  • 88.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnv1 29
  • 88.58 (n)
Chicken
(Gallus gallus)
Aves KCNV1 29 30
  • 74.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNV1 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487006 29
  • 67.59 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC559915 29
  • 66.6 (n)
KCNV1 30
  • 64 (a)
OneToOne
Species where no ortholog for KCNV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNV1: view image
Alliance of Genome Resources:
Additional Orthologs for KCNV1

Paralogs for KCNV1 Gene

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

  • KCNV1_HUMAN
  • Q76FP2_HUMAN
genes like me logo Genes that share paralogs with KCNV1: view

Variants for KCNV1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNV1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs17852611 -- p.Asp22Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNV1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KCNV1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for KCNV1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KCNV1 Gene - From: COP

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

Additional Disease Information for 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 JP … Lazdunski M (The EMBO journal 1996) 2 3 4
  2. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman GA … Wang X (Pharmacological reviews 2005) 2 3
  3. Structural characterization and promoter analysis of human potassium channel Kv8.1 (KCNV1) gene. (PMID: 14697513) Ebihara M … Yoshikawa T (Gene 2004) 3 22
  4. Positional candidate approach for the gene responsible for benign adult familial myoclonic epilepsy. (PMID: 12383276) Sano A … Kaneko S (Epilepsia 2002) 3 4
  5. Modes of regulation of shab K+ channel activity by the Kv8.1 subunit. (PMID: 9079713) Salinas M … Hugnot JP (The Journal of biological chemistry 1997) 3 4

Products for KCNV1 Gene

Sources for KCNV1 Gene