|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:GAP
gptkb:RasGAP
gptkb:CMAVM
gptkb:p120-RasGAP
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:capillary_malformation-arteriovenous_malformation_(CM-AVM)
arteriovenous fistulas
cutaneous capillary malformations
lymphatic malformations
venous malformations
|
|
gptkbp:discoveredBy
|
Shou et al.
|
|
gptkbp:encodes
|
gptkb:RAS_p21_protein_activator_1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000145715
5921
|
|
gptkbp:expressedIn
|
various tissues
ubiquitous
|
|
gptkbp:firstDescribed
|
1992
|
|
gptkbp:function
|
gptkb:GTPase-activating_protein_for_RAS
|
|
gptkbp:geneType
|
protein-coding
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RASA1 gene
|
|
gptkbp:interactsWith
|
gptkb:RAS_proteins
gptkb:Src_family_kinases
gptkb:p190_RhoGAP
phospholipids
|
|
gptkbp:length
|
1047 amino acids
~85 kb
|
|
gptkbp:locatedOnChromosome
|
5q14.3
|
|
gptkbp:mouseKnockoutPhenotype
|
embryonic lethality
vascular defects
|
|
gptkbp:mutationAssociatedWith
|
loss-of-function
vascular anomalies
|
|
gptkbp:numberOfExons
|
25
|
|
gptkbp:OMIM
|
139150
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Rasa1
|
|
gptkbp:pathway
|
gptkb:RAS_signaling_pathway
gptkb:MAPK_signaling_pathway
|
|
gptkbp:postTranslationalModification
|
phosphorylation
|
|
gptkbp:proteinFamily
|
gptkb:PH_domain
gptkb:GAP_domain
C2 domain
SH2 domain
|
|
gptkbp:regulates
|
gptkb:RAS/MAPK_signaling_pathway
|
|
gptkbp:significance
|
gptkb:Parkes_Weber_syndrome
gptkb:hereditary_hemorrhagic_telangiectasia-like_syndrome
|
|
gptkbp:UniProtID
|
gptkb:P20936
|
|
gptkbp:bfsParent
|
gptkb:RTK-RAS_pathway
|
|
gptkbp:bfsLayer
|
6
|