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

中文名称:钾电压门控通道调节因子亚家族 F 成员 1

种属: Homo sapiens

同用名: IK8; kH1; KCNF; KV5.1

基因 ID: 3754 | 基因类型: protein coding

关于 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.

功能概要

从功能和结构的角度来看,电压门控钾 (Kv) 通道代表了最复杂的一类电压门控离子通道。它们的不同功能包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质转运、平滑肌收缩和细胞体积。该基因编码钾通道、电压门控 F 亚科成员。该基因无内含子,在所有测试组织中均有表达,包括心脏、骨骼肌、大脑、肾脏和胰腺。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_002236.5 NP_002227.2 potassium voltage-gated channel subfamily F member 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KCNF1 蛋白结构

BTB_2

BTB_2: BTB/POZ domain (25 - 126)

Ion_trans

Ion_trans: Ion transport protein (225 - 402)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 494 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily F member 1

potassium channel KH1

KCNF1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra KCNF1 Q9H3M0 SERP1 Homo sapiens Q9Y6X1
Complementation
32296183
Intra KCNF1 Q9H3M0 SERP1 Homo sapiens Q9Y6X1
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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