1. Gene
  2. KCNIP1 - potassium voltage-gated channel interacting protein 1 Gene

KCNIP1 - potassium voltage-gated channel interacting protein 1 Gene

中文名称:钾电压门控通道相互作用蛋白 1

种属: Homo sapiens

同用名: VABP; KCHIP1

基因 ID: 30820 | 基因类型: protein coding

关于 KCNIP1

Cytogenetic location: 5q35.1 Genomic coordinates (GRCh38): 5:170,353,487-170,736,632 (from NCBI)

This gene has 10 transcripts (splice variants), 279 orthologues and 14 paralogues. Biased expression in brain (RPKM 5.5), testis (RPKM 1.0) and 6 other tissues.

功能概要

该基因编码胞质电压门控钾 (Kv) 通道相互作用蛋白 (KCNIP) 家族的成员,属于钙结合 EF 手蛋白的神经元钙传感器 (NCS) 家族。它们与 Kv4 alpha 亚基结合形成天然 Kv4 通道复合体。编码的蛋白质可以调节快速失活 (A 型) 电流,从而调节神经元膜的兴奋性,以响应细胞内钙浓度的变化。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2013 年 5 月]

This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

KCNIP1 基因产物(5)

mRNA Protein Name
NM_001034837.3 NP_001030009.1 Kv channel-interacting protein 1 isoform 1
NM_001034838.3 NP_001030010.1 Kv channel-interacting protein 1 isoform 3
NM_001278339.2 NP_001265268.1 Kv channel-interacting protein 1 isoform 5
NM_001278340.2 NP_001265269.1 Kv channel-interacting protein 1 isoform 4
NM_014592.4 NP_055407.1 Kv channel-interacting protein 1 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium ion binding IDA
IDA: 通过直接分析推断
17187064 GOA
enables potassium channel regulator activity IDA
IDA: 通过直接分析推断
10676964 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10551270 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
10676964 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Kv4.3-KChIP1 channel complex IPI
IPI: 通过物理相互作用推断
17187064 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
10676964 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: 通过直接分析推断
10676964 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
10676964 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

KCNIP1 蛋白结构

EF-hand_8

EF-hand_8: EF-hand domain pair (77 - 126)

EF-hand_7

EF-hand_7: EF-hand domain pair (137 - 208)

  • 0
  • 100
  • 200
  • 227 a.a.
蛋白主名 其他名称

Kv channel-interacting protein 1

A-type potassium channel modulatory protein 1

KCNIP1 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
种属内
KCNIP1 Q9NZI2 KCNIP2 Homo sapiens Q9NS61-3 15358149
种属内
KCNIP1 Q9NZI2 KCND2 Homo sapiens Q9NZV8 15358149
种属内
KCNIP1 Q9NZI2 KCND3 Homo sapiens Q9UK17 17187064
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
Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Hypertension, Diastolic

Hypertension, Diastolic, Resistance To

Diastolic Hypertension

Bacterial Pneumonia

Gram-Negative Pneumonia

Pneumonia Due To Other Gram-Negative Bacteria

Pneumonia Bacterial

Pneumonia, Bacterial

Acute Bacillus Pneumonia

Acute Bacterial Pneumonia

Bacillus Double Pneumonia

Bacillus Pneumonia

Bacteria Pneumonia

Bacterial Double Pneumonia

Bacterial Lobar Pneumonia

Bacterial Purulent Pneumonia

Bronchopneumonia Due To Bacteria Other Than S. Pneumoniae And H. Influenzae

Acute Pyelonephritis

Apn - [Acute Pyelonephritis]

Pyelitis
Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a

Urinary Tract Infection

Urinary Tract Infections

Uti

Urinary Tract Infection Nos

Uti - [Urinary Tract Infection]

Uti Nos - [Urinary Tract Infection Nos]

Urosepsis Nos

E Coli Uti

E Coli Urinary Tract Infection

Escherichia Coli Uti

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
Mus musculus KCNIP1 MGD MGI:1917607
Canis familiaris KCNIP1 VGNC VGNC:42254
Felis catus KCNIP1 VGNC VGNC:63040
Rattus norvegicus KCNIP1 RGD RGD:70886
Macaca mulatta KCNIP1 VGNC VGNC:73832
Bos taurus KCNIP1 VGNC VGNC:30450