Rasa1
Gene Detail

Symbol Name ID

Rasa1 RAS p21 protein activator 1 MGI:97860

Synonyms

Gap, MGC:7759, p120-rasGAP

Feature Type

protein coding gene

Genetic Map

Chromosome 13

45.05 cM
Detailed Genetic Map ± 1 cM


Mapping data(19)

Sequence Map

Chr13:85214780-85289029 bp, - strand From VEGA annotation of GRCm38   74250 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:2168  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Rasa1

Human homologs

Human Homolog		RASA1, RAS p21 protein activator (GTPase activating protein) 1
NCBI Gene ID		5921
neXtProt AC		NX_P20936
Human Synonyms		CMAVM, CM-AVM, GAP, p120GAP, p120RASGAP, PKWS, RASA, RASGAP
Human Chr (Location)		5q13.3; chr5:86564070-86687743 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human RASA1

Alleles and phenotypes

All alleles(6) : Targeted(5) Gene trapped(1)
 

Homozygotes for a targeted null mutation exhibit reduced embryonic growth associated with defects of both yolk sac and embryonic vascular systems resulting in lethality by embryonic day 10.5. Mice homozygous for a knock-in allele exhibit increased sensitivity to induced cell death and colitis.

 

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	negative regulation of cell adhesion, negative regulation of cell-matrix adhesion, ...
Component	cytoplasm, intrinsic to internal side of plasma membrane, ...
Function	glycoprotein binding, GTPase activator activity, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (11)    Tissues (1)   
Theiler Stages: 13

Assay Type	Results
Western blot	11

cDNA source data(119)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(126) Genomic(2) cDNA(122) Other(2)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000016336 (Evidence)
Ensembl Gene Model	ENSMUSG00000021549 (Evidence)
Entrez Gene	218397 (Evidence)
UniGene	259653
DFCI	TC1606217, TC1631648, TC1653554, TC1667512, TC1681534
DoTS	DT.101384341, DT.101384342, DT.110977578, DT.490463, DT.94227269, DT.94227280, DT.94269702
NIA Mouse Gene Index	U035002
Consensus CDS Project	CCDS26667.2
International Mouse Knockout Project Status	Rasa1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016336	VEGA Gene Model | MGI Sequence Detail	74250	C57BL/6J
transcript	OTTMUST00000039255	VEGA | MGI Sequence Detail	4563	Not Applicable
polypeptide	OTTMUSP00000017544	VEGA | MGI Sequence Detail	1038	Not Applicable

All sequences(61) RefSeq(2) UniProt(4)

Polymorphisms

RFLP(9) : SNPs(355 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000008	C2 calcium-dependent membrane targeting
InterPro	IPR008973	C2 calcium/lipid-binding domain, CaLB
InterPro	IPR018029	C2 membrane targeting protein
InterPro	IPR001849	Pleckstrin homology domain
InterPro	IPR011993	Pleckstrin homology-like domain
InterPro	IPR001936	Ras GTPase-activating protein
InterPro	IPR023152	Ras GTPase-activating protein, conserved site
InterPro	IPR008936	Rho GTPase activation protein
InterPro	IPR000980	SH2 domain
InterPro	IPR001452	Src homology-3 domain
Protein Ontology	PR:000013743	ras GTPase-activating protein 1

References

(Earliest) J:10156 Hsieh CL, et al., Chromosome localization and cDNA sequence of murine and human genes for ras p21 GTPase activating protein (GAP). Somat Cell Mol Genet. 1989 Nov;15(6):579-90
(Latest) J:190112 Qiao Y, et al., Development of promyelocytic leukemia zinc finger-expressing innate CD4 T cells requires stronger T-cell receptor signals than conventional CD4 T cells. Proc Natl Acad Sci U S A. 2012 Oct 2;109(40):16264-9
All references(65)

Other accession IDs

MGD-MRK-13770, MGD-MRK-9965