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  2. TNNI3K - TNNI3 interacting kinase Gene

TNNI3K - TNNI3 interacting kinase Gene

中文名称:TNNI3 相互作用激酶

种属: Homo sapiens

同用名: CARK; CCDD

基因 ID: 51086 | 基因类型: protein coding

关于 TNNI3K

Cytogenetic location: 1p31.1 Genomic coordinates (GRCh38): 1:74,235,387-74,544,428 (from NCBI)

This gene has 8 transcripts (splice variants), 189 orthologues, 23 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 19.3), testis (RPKM 1.3) and 1 other tissue.

功能概要

该基因编码的蛋白质属于 MAP 激酶激酶激酶 (MAPKKK) 蛋白激酶家族。该蛋白质包含锚蛋白重复序列、蛋白激酶和富含丝氨酸的结构域,被认为在心脏生理学中发挥作用。[RefSeq 提供,2012 年 9 月]

This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]

TNNI3K 基因产物(1)

mRNA Protein Name
NM_015978.3 NP_057062.1 serine/threonine-protein kinase TNNI3K
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 protein binding IPI
IPI: 通过物理相互作用推断
12721663 GOA
enables protein kinase activity IDA
IDA: 通过直接分析推断
12721663 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bundle of His cell to Purkinje myocyte communication IMP
IMP: 通过突变表型推断
23236294 GOA
involved in protein phosphorylation IDA
IDA: 通过直接分析推断
12721663 GOA
involved in regulation of cardiac conduction IGI
IGI: 通过遗传相互作用推断
23236294 GOA
involved in regulation of cardiac muscle contraction IMP
IMP: 通过突变表型推断
24925317 GOA
involved in regulation of heart rate IGI
IGI: 通过遗传相互作用推断
23236294 GOA
involved in regulation of heart rate IMP
IMP: 通过突变表型推断
24925317 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
12721663 GOA
located in nucleus IDA
IDA: 通过直接分析推断
12721663 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

TNNI3K 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (105 - 195)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (204 - 291)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (310 - 404)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (463 - 719)

  • 0
  • 200
  • 400
  • 600
  • 835 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase TNNI3K

cardiac ankyrin repeat kinase

关联疾病

疾病名称 别名
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy

CCDD

Familial Atrial Tachyarrhythmia-Infra-Hisian Cardiac Conduction Disease

Cardiac Conduction Disease With/Without Dilated Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Arrhythmogenic Right Ventricular Dysplasia 2

ARVD2

Arrhythmogenic Right Ventricular Cardiomyopathy 2

Arvc2

Familial Arrhythmogenic Right Ventricular Dysplasia 2

Dysplasia, Arrhythmogenic Right Ventricular, Type 2

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

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
Rattus norvegicus TNNI3K RGD RGD:727908
Mus musculus TNNI3K MGD MGI:2443276