1. Gene
  2. KCNV1 - potassium voltage-gated channel modifier subfamily V member 1 Gene

KCNV1 - potassium voltage-gated channel modifier subfamily V member 1 Gene

中文名称:钾电压门控通道调节因子亚科 V 成员 1

种属: Homo sapiens

同用名: HNKA; KCNB3; KV2.3; KV8.1

基因 ID: 27012 | 基因类型: protein coding

关于 KCNV1

Cytogenetic location: 8q23.2 Genomic coordinates (GRCh38): 8:109,963,636-109,975,771 (from NCBI)

This gene has 2 transcripts (splice variants), 193 orthologues and 31 paralogues. Restricted expression toward brain (RPKM 7.0).

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。该基因编码钾电压门控通道亚家族 V 的一个成员。该蛋白质主要存在于大脑中,其作用可能是抑制特定类别的外向整流钾通道类型的功能。[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 voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier Potassium Channel types. [provided by RefSeq, Jul 2008]

KCNV1 基因产物(1)

mRNA Protein Name
NM_014379.4 NP_055194.1 potassium voltage-gated channel subfamily V member 1

KCNV1 蛋白结构

BTB_2

BTB_2: BTB/POZ domain (42 - 150)

Ion_trans

Ion_trans: Ion transport protein (244 - 427)

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  • 500 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily V member 1

neuronal potassium channel alpha subunit HNKA

关联疾病

疾病名称 别名
Atrial Septal Defect 5

ASD5

Atrial Heart Septal Defect 5

Septal Defect, Atrial, Type 5

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy

Bafme

Benign Adult Familial Myoclonic Epilepsy

Fame

Familial Cortical Myoclonic Tremor And Epilepsy

Fcmte

Adcme

Autosomal Dominant Cortical Myoclonus And Epilepsy

Fam

Epilepsy, Myoclonic, Familial Adult

Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Cba

Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency

Basd

Bile Acid Synthesis Defect, Congenital, 1

Severe Congenital Neutropenia 3

Kostmann Syndrome

Infantile Agranulocytosis

Kostmann Disease

Scn3

Severe Congenital Neutropenia Type 3

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 KCNV1 VGNC VGNC:63050
Canis familiaris KCNV1 VGNC VGNC:42297
Bos taurus KCNV1 VGNC VGNC:30497
Macaca mulatta KCNV1 VGNC VGNC:73852
Mus musculus KCNV1 MGD MGI:1914748
Rattus norvegicus KCNV1 RGD RGD:621264