产品名称
RASA1 Rabbit Polyclonal Antibody
蛋白名称
Ras GTPase-activating protein 1 (GAP) (GTPase-activating protein) (RasGAP) (Ras p21 protein activator) (p120GAP)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
P20936
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P20936/entry
Rat Swissprot Link
http://www.uniprot.org/uniprot/O54941P50904
免疫原
Synthesized peptide derived from part region of human protein
特异性
RASA1 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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 expres
组织表达
In placental villi, detected only in the trophoblast layer (cytotrophoblast and syncytiotrophoblast). Not detected in stromal, endothelial or Hofbauer cells (at protein level).
信号通路
MAPK_ERK_Growth;MAPK_G_Protein;Axon guidance;
功能
disease:Defects in RASA1 are a cause of Parkes Weber syndrome (PKWS) [MIM:608355]. PKWS is a disorder characterized by a cutaneous flush with underlying multiple micro-arteriovenous fistulas, in association with soft tissue and skeletal hypertrophy of the affected limb.,disease:Defects in RASA1 are the cause of capillary malformation-arteriovenous malformation (CMAVM) [MIM:608354]. CMAVM is 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.,disease:Mutations in the SH2 domain of RASA seem to be oncogenic and cause basal cell carcinomas.,function:Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21.,PTM:The N-terminus is blocked.,similarity:Contains 1 C2 domain.,similarity:Contains 1 PH domain.,similarity:Contains 1 Ras-GAP domain.,similarity:Contains 1 SH3 domain.,similarity:Contains 2 SH2 domains.,subunit:Interacts with SQTSM1. Interacts with SPSB1. Interaction with SPSB1 does not promote degradation.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.