InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RASA1

Summary

InnateDB Protein

IDBP-373048.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RASA1

Protein Name

RAS p21 protein activator (GTPase activating protein) 1

Synonyms

CM-AVM; CMAVM; GAP; p120GAP; p120RASGAP; PKWS; RASA; RASGAP;

Species

Homo sapiens

Ensembl Protein

ENSP00000411221

InnateDB Gene

IDBG-32785 (RASA1)

Protein Structure

UniProt Annotation

Function

Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1. {ECO:0000269PubMed:11389730, ECO:0000269PubMed:8360177}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:8360177}.

Disease Associations

Note=Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas.Capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]: A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. {ECO:0000269PubMed:14639529}. Note=The disease is caused by mutations affecting the gene represented in this entry.Parkes Weber syndrome (PKWS) [MIM:608355]: Disorder characterized by a cutaneous flush with underlying multiple micro- arteriovenous fistulas, in association with soft tissue and skeletal hypertrophy of the affected limb. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

In placental villi, detected only in the trophoblast layer (cytotrophoblast and syncytiotrophoblast). Not detected in stromal, endothelial or Hofbauer cells (at protein level). {ECO:0000269PubMed:8360177}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 103 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	103 [view]
Protein-Protein	100 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001948	glycoprotein binding
GO:0005096	GTPase activator activity
GO:0005099	Ras GTPase activator activity
GO:0005102	receptor binding
GO:0005515	protein binding
GO:0019870	potassium channel inhibitor activity
GO:0051020	GTPase binding

Biological Process

GO:0000281	mitotic cytokinesis
GO:0001570	vasculogenesis
GO:0001953	negative regulation of cell-matrix adhesion
GO:0007162	negative regulation of cell adhesion
GO:0007165	signal transduction
GO:0008360	regulation of cell shape
GO:0009790	embryo development
GO:0030833	regulation of actin filament polymerization
GO:0032320	positive regulation of Ras GTPase activity
GO:0035556	intracellular signal transduction
GO:0043524	negative regulation of neuron apoptotic process
GO:0046580	negative regulation of Ras protein signal transduction
GO:0051056	regulation of small GTPase mediated signal transduction
GO:0051252	regulation of RNA metabolic process

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000008 C2 domain
IPR000980 SH2 domain
IPR001452 SH3 domain
IPR001849 Pleckstrin homology domain
IPR001936 Ras GTPase-activating protein
IPR008936 Rho GTPase activation protein

PFAM