1. Gene
  2. KCNF1 - potassium voltage-gated channel modifier subfamily F member 1 Gene

KCNF1 - potassium voltage-gated channel modifier subfamily F member 1 Gene

Homo sapiens

Also known as IK8; kH1; KCNF; KV5.1

Gene ID: 3754 | Gene type: protein coding

About KCNF1

Cytogenetic location: 2p25.1 Genomic coordinates (GRCh38): 2:10,911,934-10,914,225 (from NCBI)

This gene has 1 transcript (splice variant), 241 orthologues and 31 paralogues.

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]

KCNF1 Products(1)

mRNA Protein Name
NM_002236.5 NP_002227.2 potassium voltage-gated channel subfamily F member 1

KCNF1 Protein Structure

BTB_2

BTB_2: BTB/POZ domain (25 - 126)

Ion_trans

Ion_trans: Ion transport protein (225 - 402)

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  • 494 a.a.
Protein Preferred Names Protein Names

potassium voltage-gated channel subfamily F member 1

potassium channel KH1

Related Diseases

Diseases Alias
Arts Syndrome

ARTS

Mrxsarts

Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision

Mrxs18

Lethal Ataxia With Deafness And Optic Atrophy

Fatal X-Linked Ataxia With Deafness And Loss Of Vision

Mental Retardation, X-Linked, Syndromic, Arts Type

Mental Retardation, X-Linked, Syndromic 18

Syndromic X-Linked Mental Retardation 18

Syndromic X-Linked Mental Retardation Arts Type

Lethal Ataxia-Deafness-Optic Atrophy

X-Linked Fatal Ataxia With Deafness And Loss Of Vision

Ataxia-Deafness-Optic Atrophy, Lethal

Lethal Ataxia With Hearing Loss And Optic Atrophy

Art

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus KCNF1 VGNC VGNC:67905
Bos taurus KCNF1 VGNC VGNC:30441
Rattus norvegicus KCNF1 RGD RGD:631414
Mus musculus KCNF1 MGD MGI:2687399
Canis familiaris KCNF1 VGNC VGNC:42244