RASIP1

RASIP1
Identifiers
Aliases	RASIP1, RAIN, Ras interacting protein 1
External IDs	OMIM: 609623 MGI: 1917153 HomoloGene: 9847 GeneCards: RASIP1
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.33 Start 48,720,585 bp End 48,740,610 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 B3 Start 45,276,912 bp End 45,288,517 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lung upper lobe of left lung spleen subcutaneous adipose tissue lower lobe of lung left uterine tube left ventricle body of pancreas body of stomach right lobe of thyroid gland Top expressed in vascular endothelium interventricular septum right lung left lung left lung lobe capillary right lung lobe extensor digitorum longus muscle plantaris muscle yolk sac More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding protein homodimerization activity GTPase binding Cellular component perinuclear region of cytoplasm cytoplasm Golgi stack Golgi apparatus cell-cell junction protein-containing complex Biological process vasculogenesis regulation of GTPase activity negative regulation of autophagy branching morphogenesis of an epithelial tube angiogenesis signal transduction positive regulation of integrin activation negative regulation of Rho protein signal transduction negative regulation of membrane permeability negative regulation of Rho-dependent protein serine/threonine kinase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54922 69903 Ensembl ENSG00000105538 ENSMUSG00000044562 UniProt Q5U651 Q3U0S6 RefSeq (mRNA) NM_017805 NM_028544 NM_027253 RefSeq (protein) NP_060275 NP_082820 Location (UCSC) Chr 19: 48.72 – 48.74 Mb Chr 7: 45.28 – 45.29 Mb PubMed search
Wikidata
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Ras-interacting protein 1 (RASIP1), also known as RAIN, is a protein that in humans is encoded by the RASIP1 gene.

Function

• It is required for the proper formation of vascular structures that develop via both vasculogenesis and angiogenesis.
• Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis.
• Regulates the activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9 activities in endothelial cells.

Clinical significance

A recent genome-wide association study (GWAS) has found that genetic variations in RASIP1 are associated with late-onset sporadic Alzheimer’s disease (LOAD). However, it's unknown how RASIP1 mutation contributes to disease.