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  2. ARHGAP1 - Rho GTPase activating protein 1 Gene

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

ARHGAP1 Protein Structure

CRAL_TRIO_2

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

RhoGAP

RhoGAP: RhoGAP domain (260 - 405)

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  • 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

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