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  2. ARHGAP1 - Rho GTPase activating protein 1 Gene

ARHGAP1 - Rho GTPase activating protein 1 Gene

中文名称:Rho GTP 酶激活蛋白 1

种属: Homo sapiens

同用名: RHOGAP; RHOGAP1; CDC42GAP; p50rhoGAP

基因 ID: 392 | 基因类型: protein coding

关于 ARHGAP1

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:46,677,080-46,700,619 (from NCBI)

This gene has 7 transcripts (splice variants), 166 orthologues and 1 paralogue. Ubiquitous expression in urinary bladder (RPKM 39.6), heart (RPKM 37.9) and 25 other tissues.

功能概要

该基因编码一大类蛋白质的成员,这些蛋白质可激活 Rho 型三磷酸鸟苷 (GTP) 代谢酶。编码的蛋白质包含一个 Src 同源 3 结构域,并与 Bcl-2 相关蛋白家族成员相互作用。[RefSeq 提供,2012 年 8 月]

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing Enzymes. The encoded protein contains a Src homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]

ARHGAP1 基因产物(1)

mRNA Protein Name
NM_004308.5 NP_004299.1 rho 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
8253717 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9262406 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
16380373 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in endosomal transport IMP
IMP: 通过突变表型推断
16380373 GOA
involved in negative regulation of endocytic recycling IMP
IMP: 通过突变表型推断
16380373 GOA
acts upstream of or within small GTPase-mediated signal transduction IDA
IDA: 通过直接分析推断
8253717 GOA
involved in transferrin transport IMP
IMP: 通过突变表型推断
16380373 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
25468996 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
16380373 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
16380373 GOA
colocalizes with sorting endosome IMP
IMP: 通过突变表型推断
16380373 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

ARHGAP1 蛋白结构

CRAL_TRIO_2

CRAL_TRIO_2: Divergent CRAL/TRIO domain (74 - 215)

RhoGAP

RhoGAP: RhoGAP domain (260 - 405)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 439 a.a.
蛋白主名 其他名称

rho GTPase-activating protein 1

CDC42 GTPase-activating protein

ARHGAP1 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
ARHGAP1 Q07960 CDC42 Homo sapiens P60953-2
X-Ray Diffraction
9846874
种属内
ARHGAP1 Q07960 CDC42 Homo sapiens P60953-2
X-Ray Diffraction
9262406
种属内
ARHGAP1 Q07960 SH3GL1 Homo sapiens Q99961
Validated Y2H
32296183
种属内
ARHGAP1 Q07960 RHOC Homo sapiens P08134
Anti Tag CoIP
35271311
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
Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus

Diabetes Insipidus, Nephrogenic

Diabetes Insipidus Nephrogenic

Congenital Nephrogenic Diabetes Insipidus

Adh Resistant Diabetes Insipidus

Diabetes Insipidus Nephrogenic X-Linked

Diabetes Insipidus Nephrogenic Type 1

Adh-Resistant Diabetes Insipidus

Diabetes Insipidus Renalis

Ndi

Renal Diabetes Insipidus

Familial Nephrogenic Diabetes

Antidiuretic-Hormone-Resistant Diabetes Insipidus

Adiuretin-Resistant Diabetes Insipidus

Ndi - [Nephrogenic Diabetes Insipidus]

Diabetes Tenuifluus

Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

Hereditary Nephrogenic Diabetes Insipidus

Familial Nephrogenic Diabetes Insipidus

Primary Nephrogenic Diabetes Insipidus

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome

Oculocerebrorenal Syndrome

OCRL

Oculocerebrorenal Syndrome Of Lowe

Ocrl1

Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

Lowe Disease

Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

Cerebrooculorenal Syndrome

Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

Lowe Oculo-Cerebro-Renal Dystrophy

Lowe Oculo-Cerebro-Renal Syndrome

Lowe Oculocerebrorenal Dystrophy

Low

Chromosome 11p Deletion Syndrome

Oculocerebrorenal Dystrophy

Cerebro-Oculorenal Dystrophy

Ocrl1 - [Oculocerebrorenal Syndrome]

Lowe-Terrey-Maclachlan Syndrome

Renal-Oculocerebrodystrophy

Brain Cancer

Adult Brain Tumor

Malignant Neoplasm Of Brain

Brain Neoplasms

Brain Neoplasm

Neoplasm Of Brain

Primary Malignant Neoplasm Of Brain

Brain Tumors

Adult Malignant Brain Neoplasm

Brain Neoplasm, Adult

Bt - Brain Tumour

Malignant Brain Tumour

Malignant Primary Brain Neoplasm

Malignant Primary Brain Tumor

Malignant Tumor Of Adult Brain

Malignant Tumor Of Brain

Primary Brain Neoplasm

Primary Brain Tumor

Tumor Of The Brain

Brain Tumor, Adult

Brain Tumor Primary

Malignant Primary Brain Tumors

Primary Brain Tumors

Cancer, Brain

Brain Tumor, Primary

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

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 ARHGAP1 VGNC VGNC:68110
Mus musculus ARHGAP1 MGD MGI:2445003
Macaca mulatta ARHGAP1 VGNC VGNC:70006
Canis familiaris ARHGAP1 VGNC VGNC:38044
Bos taurus ARHGAP1 VGNC VGNC:26073
Rattus norvegicus ARHGAP1 RGD RGD:1306068