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

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2129 (e-PCR)
- UniSTS:154176

A005K01 (e-PCR)
- UniSTS:21071

RH78053 (e-PCR)
- UniSTS:15009

RH79190 (e-PCR)
- UniSTS:33002

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

NG_050750.1 RefSeqGene

Range

4998..7289

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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