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    KCNF1 potassium voltage-gated channel modifier subfamily F member 1 [ Homo sapiens (human) ]

    Gene ID: 3754, updated on 17-Jun-2024

    Summary

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    Official Symbol
    KCNF1provided by HGNC
    Official Full Name
    potassium voltage-gated channel modifier subfamily F member 1provided by HGNC
    Primary source
    HGNC:HGNC:6246
    See related
    Ensembl:ENSG00000162975 MIM:603787; AllianceGenome:HGNC:6246
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IK8; kH1; KCNF; KV5.1
    Summary
    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]
    Orthologs
    mouse all
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    Genomic context

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    See KCNF1 in Genome Data Viewer
    Location:
    2p25.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (10911934..10914225)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (10941696..10943987)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (11052060..11054351)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905973 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11001513-11002014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11002015-11002516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15314 Neighboring gene long intergenic non-protein coding RNA 1954 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:11041995-11042565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11049105-11049605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11058947-11059850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11059851-11060754 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:11075650-11076849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11105924-11106900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11108135-11108636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11108637-11109136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11245073-11245572 Neighboring gene Putative uncharacterized protein FLJ33534 Neighboring gene ribosomal protein L6 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11269908-11270408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11270409-11270909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:11292424-11292924 Neighboring gene chromosome 2 open reading frame 50

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. KCNF1 promotes lung cancer by modulating ITGB4 expression. Chen CY, et al. Cancer Gene Ther, 2023 Mar. PMID 36385523, Free PMC Article
    2. Isolation, characterization, and mapping of two human potassium channels. Su K, et al. Biochem Biophys Res Commun, 1997 Dec 29. PMID 9434767
    3. Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome. Ottschytsch N, et al. Proc Natl Acad Sci U S A, 2002 Jun 11. PMID 12060745, Free PMC Article
    4. MOR is not enough: identification of novel mu-opioid receptor interacting proteins using traditional and modified membrane yeast two-hybrid screens. Petko J, et al. PLoS One, 2013. PMID 23840749, Free PMC Article
    5. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. Gutman GA, et al. Pharmacol Rev, 2005 Dec. PMID 16382104

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KCNF1 promotes lung cancer by modulating ITGB4 expression.
      Title: KCNF1 promotes lung cancer by modulating ITGB4 expression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33316

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables potassium channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables voltage-gated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in ciliary base IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of voltage-gated potassium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    potassium voltage-gated channel subfamily F member 1
    Names
    potassium channel KH1
    voltage-gated potassium channel subunit Kv5.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050750.1 RefSeqGene

      Range
      4998..7289
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002236.5 → NP_002227.2  potassium voltage-gated channel subfamily F member 1

      See identical proteins and their annotated locations for NP_002227.2

      Status: REVIEWED

      Source sequence(s)
      AC019041
      Consensus CDS
      CCDS1676.1
      UniProtKB/Swiss-Prot
      O43527, Q585L3, Q9H3M0
      Related
      ENSP00000295082.1, ENST00000295082.3
      Conserved Domains (2) summary
      cd18381
      Location:23 → 138
      BTB_POZ_Kv5_KCNF1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in KCNF/Kv5 subfamily of potassium voltage-gated channels
      pfam00520
      Location:181 → 417
      Ion_trans; Ion transport protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      10911934..10914225
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      10941696..10943987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H3M0.1 GenPept UniProtKB/Swiss-Prot:Q9H3M0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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