ARHGAP1 - Rho GTPase activating protein 1 Gene

Homo sapiens

Also known as RHOGAP; RHOGAP1; CDC42GAP; p50rhoGAP

Gene ID: 392 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_004308.5	NP_004299.1	rho GTPase-activating protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables GTPase activator activity	IDA IDA: Inferred from direct assay	8253717	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9262406	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	16380373	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endosomal transport	IMP IMP: Inferred from mutant phenotype	16380373	GOA
involved in negative regulation of endocytic recycling	IMP IMP: Inferred from mutant phenotype	16380373	GOA
acts upstream of or within small GTPase-mediated signal transduction	IDA IDA: Inferred from direct assay	8253717	GOA
involved in transferrin transport	IMP IMP: Inferred from mutant phenotype	16380373	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25468996	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	16380373	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	16380373	GOA
colocalizes with sorting endosome	IMP IMP: Inferred from mutant phenotype	16380373	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARHGAP1 Protein Structure

CRAL_TRIO_2

RhoGAP

0
100
200
300
400
439 a.a.

Protein Preferred Names

Protein Names

rho GTPase-activating protein 1

CDC42 GTPase-activating protein

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00911	ARHGAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

Name
Email *

	Sorry, but the email address you supplied was invalid.