ARHGAP31 - Rho GTPase activating protein 31 Gene

Also Known as AOS1; CDGAP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57514

About ARHGAP31

Cytogenetic location: 3q13.32-q13.33 Genomic coordinates (GRCh38): 3:119,294,383-119,420,714 (from NCBI)

This gene has 2 transcripts (splice variants), 219 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in lung (RPKM 13.9), fat (RPKM 10.8) and 22 other tissues.

Summary

This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]

ARHGAP31 Products (1)

mRNA Protein Name
NM_020754.4 NP_065805.2 rho GTPase-activating protein 31
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
32203420 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

ARHGAP31 Protein Structure

RhoGAP

RhoGAP: RhoGAP domain (35 - 183)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1444 a.a.
Protein Preferred Names Protein Names

rho GTPase-activating protein 31

  • Cdc42 GTPase-activating protein

ARHGAP31 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
ARHGAP31 Q2M1Z3 TLN1 Homo sapiens Q9Y490 32203420
Intra
ARHGAP31 Q2M1Z3 TLN1 Homo sapiens Q9Y490 35044719
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Adams-Oliver Syndrome 1
  • AOS1

  • Congenital Scalp Defects With Distal Limb Reduction Anomalies

  • Aplasia Cutis Congenita With Terminal Transverse Limb Defects

  • Aos

  • Absence Defect Of Limbs, Scalp, And Skull

  • Absence Defect Of Limbs Scalp And Skull

  • Adams-Oliver Syndrome, Type 1

  • Adams Oliver Syndrome

Adams-Oliver Syndrome
  • Adams Oliver Syndrome

  • Aos

  • Congenital Scalp Defects With Distal Limb Reduction Anomalies

  • Aplasia Cutis Congenita With Terminal Transverse Limb Defects

  • Congenital Scalp Defects With Distal Limb Anomalies

  • Limb, Scalp And Skull Defects

  • Limb Scalp And Skull Defects

  • Absence Defect Of Limbs, Scalp, And Skull

Oliver Syndrome
  • Postaxial Polydactyly-Intellectual Disability Syndrome

  • Postaxial Polydactyly And Mental Retardation

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

Aplasia Cutis Congenita
  • Aplasia Cutis Congenita Of Limbs Recessive

  • Congenital Absence Of Skin On The Upper Or Lower Limbs

  • Recessive Aplasia Cutis Congenita Of The Limbs

  • Aplasia Cutis Congenita Nonsyndromic

  • Congenital Defect Of Skull And Scalp

  • Scalp Defect Congenital

Aortic Valve Disease 1
  • Aortic Valve Disease

  • Bicuspid Aortic Valve

  • Aortic Valve Disorder

  • AOVD1

  • Bav

  • Bicuspid Aortic Valve Disease

  • Familial Bicuspid Aortic Valve

  • Aortic Valve Calcification

  • Aovd

  • Aortic Valve, Bicuspid

  • Aortic Valve, Calcification Of

  • Aortic Stenosis, Calcific

  • Familial Bav

  • Calcific Aortic Stenosis

  • Calcification Of Aortic Valve

  • Abnormality Of The Aortic Valve

  • Aortic Valve Disease, Type 1

  • Aortic Valve Disease 2

  • Bicommissural Aortic Valve

Developmental And Epileptic Encephalopathy 94
  • Epileptic Encephalopathy, Childhood-Onset

  • Eeoc

  • DEE94

  • Childhood Onset Epileptic Encephalopathy

  • Encephalopathy, Epileptic, Childhood-Onset

Dowling-Degos Disease
  • Reticular Pigment Anomaly Of Flexures

  • Dark Dot Disease

  • Reticulate Acropigmentation Of Kitamura

  • Dowling-Degos Kitamura Disease

  • Kitamura Reticulate Acropigmentation

  • Ddd

  • Dowling-Degos-Kitamura Disease

  • Reticular Pigmented Anomaly Of Flexures

Hypoplastic Left Heart Syndrome
  • Hlhs

  • Heart, Hypoplastic Left, Syndrome

  • Hypoplasia Of The Left Heart

  • Left Heart Hypoplasia Syndrome

  • Hlhs - [Hypoplastic Left Heart Syndrome]

  • Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome

  • Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome

  • Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle

  • Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia

  • Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome

  • Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome

Chromosome 22q11.2 Deletion Syndrome, Distal
  • 22q11.2 Deletion Syndrome

  • Autosomal Dominant Opitz G/Bbb Syndrome

  • Catch22

  • Cayler Cardiofacial Syndrome

  • Conotruncal Anomaly Face Syndrome

  • Digeorge Syndrome

  • Sedlackova Syndrome

  • Shprintzen Syndrome

  • Velocardiofacial Syndrome

  • 22q11.2 Distal Deletion Syndrome

  • Distal 22q11.2 Microdeletion Syndrome

  • 22q11.2ds

  • Vcfs

  • Velo-Cardio-Facial Syndrome

  • Distal Chromosome 22q11.2 Deletion Syndrome

  • Chromosome 22q11.2 Deletion Syndrome Distal

  • Chromosome 22q11.2 Deletion Syndrome

  • Deletion 22q11.2 Syndrome

  • 22q11ds

  • Catch 22

  • Digeorge Sequence

  • Microdeletion 22q11.2

  • Monosomy 22q11

  • Takao Syndrome

  • Distal Del(22)(Q11.2)

  • Distal Monosomy 22q11.2

  • Catch 22 Syndrome

  • Chromosome Deletion Syndrome 22q11.2, Distal

Tetralogy Of Fallot
  • TOF

  • Fallot Tetralogy

  • Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

  • Tetrad Of Fallot

  • Fallot Tetrad

  • Fallot Disease

  • Fallot Complex

  • Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

  • Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

  • Interventricular Septal Defect, In Tetralogy Of Fallot

  • Ventricular Septal Defect With Obstructed Right Ventricular Outflow

  • Tof - [Tetralogy Of Fallot]

  • Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

  • Pulmonary Atresia, Ventricular Septal Defect And Mapcas

  • Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

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
Bos taurus ARHGAP31 VGNC VGNC:26089
Macaca mulatta ARHGAP31 VGNC VGNC:69922
Rattus norvegicus ARHGAP31 RGD RGD:1306093
Mus musculus ARHGAP31 MGD MGI:1333857
Felis catus ARHGAP31 VGNC VGNC:59888
Canis familiaris ARHGAP31 VGNC VGNC:38058
Others ARHGAP31 NCBI