1. Gene
  2. GIT1 - GIT ArfGAP 1 Gene

GIT1 - GIT ArfGAP 1 Gene

中文名称:GIT ArfGAP 1

种属: Homo sapiens

同用名: p95-APP1

基因 ID: 28964 | 基因类型: protein coding

关于 GIT1

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:29,573,475-29,589,648 (from NCBI)

This gene has 15 transcripts (splice variants), 198 orthologues and 28 paralogues. Broad expression in testis (RPKM 58.9), brain (RPKM 28.4) and 23 other tissues.

功能概要

启用 γ-微管蛋白结合活性。参与微管成核的正调控和胞质分裂的调控。位于多个细胞成分中,包括粘着斑;微管细胞骨架;和线粒体。与注意力缺陷多动障碍有关。亨廷顿病的生物标志物。 [由基因组资源联盟提供,2022 年 4 月]

Enables gamma-tubulin binding activity. Involved in positive regulation of microtubule nucleation and regulation of cytokinesis. Located in several cellular components, including focal adhesion; microtubule cytoskeleton; and mitochondrion. Implicated in attention deficit hyperactivity disorder. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Apr 2022]

GIT1 基因产物(2)

mRNA Protein Name
NM_001085454.2 NP_001078923.1 ARF GTPase-activating protein GIT1 isoform 1
NM_014030.4 NP_054749.2 ARF GTPase-activating protein GIT1 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 gamma-tubulin binding IDA
IDA: 通过直接分析推断
27012601 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15182672 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of microtubule nucleation IMP
IMP: 通过突变表型推断
27012601 GOA
involved in regulation of cytokinesis IDA
IDA: 通过直接分析推断
23108400 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centrosome IDA
IDA: 通过直接分析推断
27012601 GOA
located in mitotic spindle pole IDA
IDA: 通过直接分析推断
27012601 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

GIT1 蛋白结构

ArfGap

ArfGap: Putative GTPase activating protein for Arf (5 - 118)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (137 - 226)

GIT_SHD

GIT_SHD: Spa2 homology domain (SHD) of GIT (264 - 294)

GIT_SHD

GIT_SHD: Spa2 homology domain (SHD) of GIT (328 - 357)

GIT1_C

GIT1_C: G protein-coupled receptor kinase-interacting protein 1 C term (633 - 756)

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

ARF GTPase-activating protein GIT1

ARF GAP GIT1

GIT1 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 GIT1 Q9Y2X7 PAK1 Homo sapiens Q13153
Anti Bait CoIP
16628223
Intra GIT1 Q9Y2X7 ARHGEF6 Homo sapiens Q15052
Y2H
21900206
Intra GIT1 Q9Y2X7 PFDN1 Homo sapiens O60925
Y2H
21900206
Intra GIT1 Q9Y2X7 GRK2 Homo sapiens P25098
Anti Bait CoIP
18369319
Intra GIT1 Q9Y2X7 GRK2 Homo sapiens P25098
IF
18369319
Intra GIT1 Q9Y2X7 GRB2 Homo sapiens P62993
Y2H
21900206
Intra GIT1 Q9Y2X7 HTT Homo sapiens P42858
Imaging
15383276
Intra GIT1 Q9Y2X7 HTT Homo sapiens P42858
Pull Down
15383276
Intra GIT1 Q9Y2X7 HTT Homo sapiens P42858
CoIP
15383276
Intra GIT1 Q9Y2X7 HTT Homo sapiens P42858
Y2H
15383276
Intra GIT1 Q9Y2X7 CEP126 Homo sapiens Q9P2H0
Pull Down
15383276
Intra GIT1 Q9Y2X7 CEP126 Homo sapiens Q9P2H0
Y2H
15383276
Intra GIT1 Q9Y2X7 LRIF1 Homo sapiens Q5T3J3
Y2H
15383276
Intra GIT1 Q9Y2X7 LRIF1 Homo sapiens Q5T3J3
Pull Down
15383276
Intra GIT1 Q9Y2X7 ARHGEF7 Homo sapiens Q14155
Anti Tag CoIP
16787945
Cross GIT1 Q9Y2X7 PXN Gallus gallus P49024
Anti Tag CoIP
16717130
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
Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Progressive Myoclonus Epilepsy 7

Epm7

Meak

Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation

Pme Type 7

Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency

Progressive Myoclonus Epilepsy Type 7

Blind Loop Syndrome

Bacterial Overgrowth Syndrome

Pneumatosis Cystoides Intestinalis
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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 GIT1 VGNC VGNC:62560
Macaca mulatta GIT1 VGNC VGNC:73053
Mus musculus GIT1 MGD MGI:1927140
Canis familiaris GIT1 VGNC VGNC:41229
Rattus norvegicus GIT1 RGD RGD:69331
Bos taurus GIT1 VGNC VGNC:29368