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  2. RABGAP1 - RAB GTPase activating protein 1 Gene

RABGAP1 - RAB GTPase activating protein 1 Gene

中文名称:RAB GTP 酶激活蛋白 1

种属: Homo sapiens

同用名: GAPCENA; TBC1D11

基因 ID: 23637 | 基因类型: protein coding

关于 RABGAP1

Cytogenetic location: 9q33.2-q33.3 Genomic coordinates (GRCh38): 9:122,931,671-123,104,866 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues and 45 paralogues. Ubiquitous expression in thyroid (RPKM 21.8), brain (RPKM 18.2) and 25 other tissues.

功能概要

启用 GTPase 激活剂活性和小 GTPase 结合活性。参与 GTPase 活性的调节。位于胞质溶胶中。 [由基因组资源联盟提供,2022 年 4 月]

Enables GTPase activator activity and small GTPase binding activity. Involved in regulation of GTPase activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

RABGAP1 基因产物(1)

mRNA Protein Name
NM_012197.4 NP_036329.3 rab GTPase-activating protein 1
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 GTPase activator activity IDA
IDA: 通过直接分析推断
17562788 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20562859 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
17562788 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of GTPase activity IDA
IDA: 通过直接分析推断
17562788 GOA
NOT involved in regulation of cilium assembly IMP
IMP: 通过突变表型推断
17646400 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
17562788 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

RABGAP1 蛋白结构

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (152 - 267)

DUF3694

DUF3694: Kinesin protein (307 - 437)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (570 - 772)

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  • 1069 a.a.
蛋白主名 其他名称

rab GTPase-activating protein 1

GAP and centrosome-associated protein

RABGAP1 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
RABGAP1 Q9Y3P9 RABGAP1L Homo sapiens Q5R372
Anti Tag CoIP
35271311
种属内
RABGAP1 Q9Y3P9 RABGAP1L Homo sapiens Q5R372
Anti Tag CoIP
20562859
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
Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Diabetes Insipidus, Neurohypophyseal

Neurohypophyseal Diabetes Insipidus

Cdi

Pituitary Diabetes Insipidus

Vasopressin Defective Diabetes Insipidus

Vasopressin Deficiency

Central Diabetes Insipidus

Diabetes Insipidus, Neurogenic

Diabetes Insipidus, Primary Central

Diabetes Insipidus, Cranial Type

Diabetes Insipidus Secondary To Vasopressin Deficiency

Diabetes Insipidus, Central

Diabetes Insipidus, Pituitary

NDI

Diabetes Insipidus Cranial Type

Neurogenic Diabetes Insipidus

Primary Central Diabetes Insipidus

Martsolf Syndrome 1

Martsolf Syndrome

Cataract-Intellectual Disability-Hypogonadism Syndrome

MARTS1

Marts

Cataract-Mental Retardation-Hypogonadism

Martsolf

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
Canis familiaris RABGAP1 VGNC VGNC:55801
Macaca mulatta RABGAP1 VGNC VGNC:107114
Rattus norvegicus RABGAP1 RGD RGD:1304691
Bos taurus RABGAP1 VGNC VGNC:106888
Felis catus RABGAP1 VGNC VGNC:102973
Mus musculus RABGAP1 MGD MGI:2385139