Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | RASA1 | contributors: mct/npt/pgu - updated : 04-01-2015 |
HGNC name | RAS p21 protein activator (GTPase activating protein) 1 |
HGNC id | 9871 |
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Corresponding disease |
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Location | 5q14.3 Physical location : 86.564.150 - 86.687.732 | ||
Synonym name | |||
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Synonym symbol(s) | RAS-GAP, RASA, P120GAP, RSG1, RASGAP, GAP, PKWS, CM-AVM, CMAVM, p120RASGAP |
DNA |
TYPE | functioning gene |
STRUCTURE | 123.58 kb 25 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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regulatory sequence | Promoter |
cytosine-phosphate-guanine/HTF |
MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
physiological period | pregnancy |
Text | placenta |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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HOMOLOGY |
interspecies | homolog to murine Rasa1 |
Homologene |
FAMILY | GAP1 subfamily of Ras GTPase-activating proteins (RasGAPs) |
CATEGORY | enzyme , protooncogene |
SUBCELLULAR LOCALIZATION | plasma membrane |
intracellular | |
intracellular,cytoplasm,organelle,membrane | |
intracellular,cytoplasm,cytosolic |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
cell & other |
REGULATION |
Other | regulated by PTK6 (modulates association of GRLF1 with RASA1) |
ASSOCIATED DISORDERS |
corresponding disease(s) | CPLM |
Susceptibility | to sporadic Sturge-Weber syndrome (SWS) |
Variant & Polymorphism other | mutation (c.1229 G > A [p.K420K]) of RASA1 associated tosporadic Sturge-Weber syndrome (SWS) |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |