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Aliases for KCNF1 Gene

Aliases for KCNF1 Gene

  • Potassium Voltage-Gated Channel Modifier Subfamily F Member 1 2 3 5
  • Voltage-Gated Potassium Channel Subunit Kv5.1 3 4
  • KH1 3 4
  • Potassium Voltage-Gated Channel, Subfamily F, Member 1 2
  • Potassium Channel, Voltage Gated Subfamily F, Member 1 2
  • Potassium Voltage-Gated Channel Subfamily F Member 1 3
  • Potassium Channel KH1 3
  • KV5.1 3
  • KCNF 3
  • IK8 3

External Ids for KCNF1 Gene

Previous HGNC Symbols for KCNF1 Gene

  • KCNF

Previous GeneCards Identifiers for KCNF1 Gene

  • GC02P010837
  • GC02P011103
  • GC02P011073
  • GC02P011002
  • GC02P010969
  • GC02P011052

Summaries for KCNF1 Gene

Entrez Gene Summary for KCNF1 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 channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNF1 Gene

KCNF1 (Potassium Voltage-Gated Channel Modifier Subfamily F Member 1) is a Protein Coding gene. Diseases associated with KCNF1 include Autosomal Recessive Nonsyndromic Deafness 47. 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 KCNB1.

UniProtKB/Swiss-Prot for KCNF1 Gene

  • Putative voltage-gated potassium channel.

Tocris Summary for KCNF1 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 KCNF1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNF1 Gene

Genomics for KCNF1 Gene

Regulatory Elements for KCNF1 Gene

Enhancers for KCNF1 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
GH02G010934 1.3 Ensembl ENCODE 11.8 +24.3 24331 2.6 PKNOX1 FOXA2 MLX ARID4B DMAP1 FOS ZHX2 MXD4 ZNF592 KAT8 KCNF1 ENSG00000257135 GC02P010935 RPL6P4
GH02G010832 0.9 ENCODE 11.1 -79.4 -79438 0.2 CBX3 RB1 ARID4B SIN3A ZNF2 ZNF48 RAD21 ZNF143 PCBP1 CREM KCNF1 PDIA6 RNU7-176P
GH02G010835 0.9 ENCODE 11.1 -76.5 -76478 0.2 ELF3 RB1 NFIB ARID4B SIN3A ZNF2 ZNF48 ZSCAN9 RAD21 ELK1 KCNF1 PDIA6 RNU7-176P
GH02G010884 0.8 ENCODE 12.2 -26.8 -26778 1.9 MXI1 ZNF384 EBF1 ZIC2 RARA ZFHX2 RELB ZNF652 EGR2 L3MBTL2 KCNF1 LINC01954
GH02G010931 0.7 ENCODE 12.1 +20.5 20519 1.8 CTCF ESRRA FOXA2 ZSCAN4 MAX ZIC2 ZNF48 RAD21 GATA3 FOS KCNF1 GC02P010935 GC02P010913
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNF1 on UCSC Golden Path with GeneCards custom track

Promoters for KCNF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000112838 163 601 SOX13 GTF2F1 CTCF MXI1 ESRRA SUZ12 SIN3A RBBP5 ZIC2 RAD21

Genomic Location for KCNF1 Gene

Chromosome:
2
Start:
10,911,937 bp from pter
End:
10,914,225 bp from pter
Size:
2,289 bases
Orientation:
Plus strand

Genomic View for KCNF1 Gene

Genes around KCNF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNF1 Gene

Proteins for KCNF1 Gene

  • Protein details for KCNF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3M0-KCNF1_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily F member 1
    Protein Accession:
    Q9H3M0
    Secondary Accessions:
    • O43527
    • Q585L3

    Protein attributes for KCNF1 Gene

    Size:
    494 amino acids
    Molecular mass:
    55584 Da
    Quaternary structure:
    • Heteromultimer with KCNG3, KCNG4 and KCNV2. Interacts with DLG1.

neXtProt entry for KCNF1 Gene

Post-translational modifications for KCNF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNF1 Gene

Domains & Families for KCNF1 Gene

Gene Families for KCNF1 Gene

Suggested Antigen Peptide Sequences for KCNF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H3M0

UniProtKB/Swiss-Prot:

KCNF1_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. F (TC 1.A.1.2) subfamily. Kv5.1/KCNF1 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. F (TC 1.A.1.2) subfamily. Kv5.1/KCNF1 sub-subfamily.
genes like me logo Genes that share domains with KCNF1: view

Function for KCNF1 Gene

Molecular function for KCNF1 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,subfamily G,member 2,rat K13 homolog,expressed in brain,placenta,skeletal muscle with an alternatively spliced isoform,also expressed in skeletal muscle
UniProtKB/Swiss-Prot Function:
Putative voltage-gated potassium channel.

Gene Ontology (GO) - Molecular Function for KCNF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005267 potassium channel activity TAS 9434767
genes like me logo Genes that share ontologies with KCNF1: view
genes like me logo Genes that share phenotypes with KCNF1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNF1

CRISPR Products

miRNA for KCNF1 Gene

miRTarBase miRNAs that target KCNF1

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNF1 Gene

Localization for KCNF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNF1 Gene

Membrane; Multi-pass membrane protein.

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 KCNF1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 3
cytosol 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNF1 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 IEA --
GO:0016021 integral component of membrane IBA,IEA --
genes like me logo Genes that share ontologies with KCNF1: view

Pathways & Interactions for KCNF1 Gene

genes like me logo Genes that share pathways with KCNF1: view

Pathways by source for KCNF1 Gene

1 Qiagen pathway for KCNF1 Gene

Gene Ontology (GO) - Biological Process for KCNF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 9434767
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCNF1: view

No data available for SIGNOR curated interactions for KCNF1 Gene

Drugs & Compounds for KCNF1 Gene

(4) Drugs for KCNF1 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 69
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 KCNF1 Gene - From: Tocris

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

(5) Tocris Compounds for KCNF1 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 KCNF1: view

Transcripts for KCNF1 Gene

mRNA/cDNA for KCNF1 Gene

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

Unigene Clusters for KCNF1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNF1 Gene

No ASD Table

Relevant External Links for KCNF1 Gene

GeneLoc Exon Structure for
KCNF1
ECgene alternative splicing isoforms for
KCNF1

Expression for KCNF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNF1 Gene

mRNA differential expression in normal tissues according to GTEx for KCNF1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x7.6), Brain - Cortex (x7.5), Brain - Nucleus accumbens (basal ganglia) (x6.1), Brain - Frontal Cortex (BA9) (x5.7), Brain - Caudate (basal ganglia) (x5.5), and Brain - Anterior cingulate cortex (BA24) (x5.3).

NURSA nuclear receptor signaling pathways regulating expression of KCNF1 Gene:

KCNF1

SOURCE GeneReport for Unigene cluster for KCNF1 Gene:

Hs.23735

mRNA Expression by UniProt/SwissProt for KCNF1 Gene:

Q9H3M0-KCNF1_HUMAN
Tissue specificity: Detected in heart, brain, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for KCNF1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with KCNF1: 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 , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNF1 Gene

Orthologs for KCNF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNF1 34 35
  • 95.37 (n)
dog
(Canis familiaris)
Mammalia KCNF1 34 35
  • 93.93 (n)
cow
(Bos Taurus)
Mammalia KCNF1 34 35
  • 92.38 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNF1 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnf1 34 16 35
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Kcnf1 34
  • 88.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNF1 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNF1 34 35
  • 75.86 (n)
lizard
(Anolis carolinensis)
Reptilia KCNF1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnf1 34
  • 72.93 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnf1b 34 35
  • 71.38 (n)
kcnf1a 35
  • 64 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea exp-2 36 35
  • 38 (a)
C32C4.1 36 35
  • 33 (a)
Y48A6B.6 36
  • 33 (a)
F44A2.2 36
  • 32 (a)
kvs-3 35
  • 31 (a)
OneToMany
kvs-1 35
  • 26 (a)
OneToMany
kvs-4 35
  • 26 (a)
OneToMany
kvs-5 35
  • 21 (a)
OneToMany
Species where no ortholog for KCNF1 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)

Evolution for KCNF1 Gene

ENSEMBL:
Gene Tree for KCNF1 (if available)
TreeFam:
Gene Tree for KCNF1 (if available)

Paralogs for KCNF1 Gene

Paralogs for KCNF1 Gene

(21) SIMAP similar genes for KCNF1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for KCNF1 Gene

genes like me logo Genes that share paralogs with KCNF1: view

Variants for KCNF1 Gene

Sequence variations from dbSNP and Humsavar for KCNF1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs193920977 Uncertain significance 10,912,674(+) GGACC(C/T)GGACG reference, missense
rs1001641558 -- 10,913,245(+) CTCAC(A/G)CACCT reference, synonymous-codon
rs1001910453 -- 10,912,028(+) GCTCC(C/G)GGACC utr-variant-5-prime
rs1001983388 -- 10,910,410(+) ATGGA(G/T)AATAA upstream-variant-2KB
rs1002245728 -- 10,914,465(+) CTCCC(A/C)CTGCA downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for KCNF1 Gene

Variant ID Type Subtype PubMed ID
nsv521177 CNV loss 19592680
nsv580969 CNV loss 21841781

Variation tolerance for KCNF1 Gene

Residual Variation Intolerance Score: 8.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNF1 Gene

Disorders for KCNF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal recessive nonsyndromic deafness 47
  • autosomal recessive deafness 47
- elite association - COSMIC cancer census association via MalaCards
Search KCNF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNF1
genes like me logo Genes that share disorders with KCNF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNF1 Gene

Publications for KCNF1 Gene

  1. Isolation, characterization, and mapping of two human potassium channels. (PMID: 9434767) Su K. … Li Y. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 22 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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. MOR is not enough: identification of novel mu-opioid receptor interacting proteins using traditional and modified membrane yeast two-hybrid screens. (PMID: 23840749) Petko J. … Levenson R. (PLoS ONE 2013) 3 64
  5. Bone morphogenetic protein-2 upregulates expression and function of voltage-gated K+ channels in human pulmonary artery smooth muscle cells. (PMID: 16815889) Fantozzi I. … Yuan J.X. (Am. J. Physiol. Lung Cell Mol. Physiol. 2006) 22 64

Products for KCNF1 Gene

Sources for KCNF1 Gene

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