1. Gene
  2. TNNI1 - troponin I1, slow skeletal type Gene

TNNI1 - troponin I1, slow skeletal type Gene

中文名称:肌钙蛋白 I1,慢骨骼型

种属: Homo sapiens

同用名: TNN1; SSTNI

基因 ID: 7135 | 基因类型: protein coding

关于 TNNI1

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:201,403,784-201,421,730 (from NCBI)

This gene has 7 transcripts (splice variants), 248 orthologues and 2 paralogues. Biased expression in esophagus (RPKM 22.0), prostate (RPKM 20.7) and 2 other tissues.

功能概要

肌钙蛋白与原肌球蛋白结合并调节横纹肌肌原纤维收缩器的钙敏感性。肌钙蛋白 I (TnI) 以及肌钙蛋白 T (TnT) 和肌钙蛋白 C (TnC) 是构成横纹肌细丝肌钙蛋白复合物的 3 个亚基之一。 TnI 是抑制亚基;阻断肌动蛋白-肌球蛋白相互作用,从而调节横纹肌松弛。 TnI 亚家族包含三个基因:TnI-骨骼快肌、TnI-骨骼慢肌和 TnI-心脏。 TnI-fast 和 TnI-slow 基因分别在快肌和慢肌骨骼肌纤维中表达,而 TnI-cardiac 基因仅在心肌组织中表达。该基因编码肌钙蛋白-I-骨骼慢肌蛋白。该基因在早期发育期间在心肌和骨骼肌中表达,但仅限于成人的慢肌骨骼肌纤维。编码的蛋白质通过抑制肌动蛋白-肌球蛋白复合物中钙介导的构象变化来防止肌肉收缩。[RefSeq 提供,2008 年 7 月]

Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq, Jul 2008]

TNNI1 基因产物(1)

mRNA Protein Name
NM_003281.4 NP_003272.3 troponin I, slow skeletal muscle
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
21988832 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

TNNI1 蛋白结构

Troponin

Troponin: Troponin (15 - 146)

  • 0
  • 100
  • 187 a.a.
蛋白主名 其他名称

troponin I, slow skeletal muscle

troponin I type 1 (skeletal, slow)

TNNI1 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
TNNI1 P19237 CCDC102B Homo sapiens Q68D86
Validated Y2H
32296183
种属内
TNNI1 P19237 PIH1D2 Homo sapiens Q8WWB5
Validated Y2H
32296183
种属内
TNNI1 P19237 CABP5 Homo sapiens Q9NP86
Validated Y2H
32296183
种属内
TNNI1 P19237 MFAP1 Homo sapiens P55081
Validated Y2H
32296183
种属内
TNNI1 P19237 CCDC57 Homo sapiens Q2TAC2-2
Validated Y2H
32296183
种属内
TNNI1 P19237 MTUS2 Homo sapiens Q5JR59-3
Y2H Array
32296183
种属内
TNNI1 P19237 MTUS2 Homo sapiens Q5JR59-3
Y2H Prey Pooling
32296183
种属内
TNNI1 P19237 MTUS2 Homo sapiens Q5JR59-3
Validated Y2H
32296183
种属内
TNNI1 P19237 C2orf68 Homo sapiens Q2NKX9
Validated Y2H
32296183
种属内
TNNI1 P19237 CTNNA3 Homo sapiens Q9UI47-2
Validated Y2H
32296183
种属内
TNNI1 P19237 ESRRG Homo sapiens P62508-3
Validated Y2H
32296183
种属内
TNNI1 P19237 CABP2 Homo sapiens Q9NPB3
Validated Y2H
32296183
种属内
TNNI1 P19237 SPANXN2 Homo sapiens Q5MJ10
Validated Y2H
32296183
种属内
TNNI1 P19237 EFCAB2 Homo sapiens Q5VUJ9-2
Validated Y2H
32296183
种属内
TNNI1 P19237 KIFC3 Homo sapiens Q9BVG8-5
Validated Y2H
32296183
种属内
TNNI1 P19237 ANKRD11 Homo sapiens X5D778
Validated Y2H
32296183
种属内
TNNI1 P19237 TNNT2 Homo sapiens P45379-11
Validated Y2H
32296183
种属内
TNNI1 P19237 DCAF11 Homo sapiens Q8TEB1
Validated Y2H
32296183
种属内
TNNI1 P19237 PNMA1 Homo sapiens Q8ND90
Validated Y2H
32296183
种属内
TNNI1 P19237 PNMA1 Homo sapiens Q8ND90
Y2H Prey Pooling
32296183
种属内
TNNI1 P19237 PNMA1 Homo sapiens Q8ND90
Y2H Array
32296183
种属内
TNNI1 P19237 MCRS1 Homo sapiens Q96EZ8
Validated Y2H
32296183
种属内
TNNI1 P19237 TNNC1 Homo sapiens P63316
Validated Y2H
32296183
种属内
TNNI1 P19237 TNNC1 Homo sapiens P63316
Complementation
32296183
种属内
TNNI1 P19237 TNNC1 Homo sapiens P63316
Y2H Prey Pooling
32296183
种属内
TNNI1 P19237 TNNC1 Homo sapiens P63316
Y2H Array
32296183
种属内
TNNI1 P19237 TNNC1 Homo sapiens P63316
Y2H Array
21988832
种属内
TNNI1 P19237 CDCA7L Homo sapiens Q96GN5
Validated Y2H
32296183
种属内
TNNI1 P19237 SAT1 Homo sapiens P21673
Validated Y2H
32296183
种属内
TNNI1 P19237 SAT1 Homo sapiens P21673
Y2H Array
32296183
种属内
TNNI1 P19237 MDFI Homo sapiens Q99750
Y2H Prey Pooling
25416956
种属内
TNNI1 P19237 ZNF76 Homo sapiens P36508
Validated Y2H
32296183
种属内
TNNI1 P19237 TRIM41 Homo sapiens Q8WV44
Validated Y2H
32296183
种属内
TNNI1 P19237 L3MBTL2 Homo sapiens Q969R5
Validated Y2H
32296183
种属内
TNNI1 P19237 CEP19 Homo sapiens Q96LK0
Validated Y2H
32296183
种属内
TNNI1 P19237 ARMC7 Homo sapiens Q9H6L4
Validated Y2H
32296183
种属内
TNNI1 P19237 MNS1 Homo sapiens Q8NEH6
Validated Y2H
32296183
种属内
TNNI1 P19237 ENKD1 Homo sapiens Q9H0I2
Validated Y2H
32296183
种属内
TNNI1 P19237 SCNM1 Homo sapiens Q9BWG6
Validated Y2H
32296183
种属内
TNNI1 P19237 EIF1AD Homo sapiens Q8N9N8
Validated Y2H
32296183
种属内
TNNI1 P19237 EAF1 Homo sapiens Q96JC9
Validated Y2H
32296183
种属内
TNNI1 P19237 PIK3R3 Homo sapiens Q92569
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
Nemaline Myopathy 5

Amish Nemaline Myopathy

NEM5

Anm

Nemaline Myopathy, Amish Type

Nemaline Myopathy 5, Amish Type

Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene

Nemaline Myopathy, Type 5

Nemaline Myopathy Amish Type

Tnnt1-Related Nemaline Myopathy

Myopathy, Nemaline, Type 5

Myasthenic Syndrome, Congenital, 20, Presynaptic

Congenital Myasthenic Syndrome 20

CMS20

Congenital Myasthenic Syndrome 20 Presynaptic

Myasthenic Syndrome, Congenital, Type 20, Presynaptic

Severe Congenital Neutropenia 1
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome

Arthropathy-Camptodactyly Syndrome

Pericarditis-Arthropathy-Camptodactyly Syndrome

Xyy Syndrome

Pac Syndrome

Cacp Syndrome

CACP

Fibrosing Serositis, Familial

Camptodactyly-Arthropathy-Pericarditis Syndrome

Cap Syndrome

47, Xyy Syndrome

47,Xyy Syndrome

Double Y Syndrome

Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

Hypertrophic Synovitis, Congenital Familial

Congenital Familial Hypertrophic Synovitis

Xyy Karyotype

Y Disomy

Yy Syndrome

Familial Fibrosing Serositis

Disomy Y

Double Y

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

Arthropathy Camptodactyly Syndrome

Camptodactyly Arthropathy Pericarditis Syndrome

Pericarditis Arthropathy Camptodactyly Syndrome

Jacob'S Syndrome

47,Xyy

Cdags Syndrome

Nemaline Myopathy 2

NEM2

Nemaline Myopathy 2, Autosomal Recessive

Nemaline Myopathy, Type 2

Neb-Related Nemaline Myopathy

Myopathy, Nemaline, 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

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 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
Mus musculus TNNI1 MGD MGI:105073
Macaca mulatta TNNI1 VGNC VGNC:100163
Felis catus TNNI1 VGNC VGNC:107955
Bos taurus TNNI1 VGNC VGNC:36191
Canis familiaris TNNI1 VGNC VGNC:47688
Rattus norvegicus TNNI1 RGD RGD:621765