ARHGAP1 - Rho GTPase activating protein 1 Gene

Also Known as RHOGAP; RHOGAP1; CDC42GAP; p50rhoGAP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 392

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

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

RhoGAP

RhoGAP: RhoGAP domain (260 - 405)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 439 a.a.
Protein Preferred Names Protein Names

rho GTPase-activating protein 1

  • CDC42 GTPase-activating protein

ARHGAP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ARHGAP1 Q07960 CDC42 Homo sapiens P60953-2 9846874
Intra
ARHGAP1 Q07960 CDC42 Homo sapiens P60953-2 9262406
Intra
ARHGAP1 Q07960 SH3GL1 Homo sapiens Q99961 32296183
Intra
ARHGAP1 Q07960 RHOC Homo sapiens P08134 35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others ARHGAP1 NCBI