Gene: RASA1

Alternate names for this Gene: CM-AVM|CMAVM|CMAVM1|GAP|PKWS|RASA|RASGAP|p120|p120GAP|p120RASGAP

Gene Summary: The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.3

Description of this Gene: RAS p21 protein activator 1

Type of Gene: protein-coding

Gene: CCNH

Alternate names for this Gene: CAK|CycH|p34|p37

Gene Summary: The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.3

Description of this Gene: cyclin H

Type of Gene: protein-coding

rs1204340475 in RASA1;CCNH gene and CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) PMID 24038909 2013 RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

PMID 18446851 2008 Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.

PMID 23164092 2012 CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy.

rs35148638 in RASA1;CCNH gene and Prostate carcinoma PMID 25939597 2015 In a multistage, case-only genome-wide association study of 12,518 prostate cancer cases, we identify two loci associated with Gleason score, a pathological measure of disease aggressiveness: rs35148638 at 5q14.3 (RASA1, P=6.49 × 10(-9)) and rs78943174 at 3q26.31 (NAALADL2, P=4.18 × 10(-8)).