RASGEF1A

RASGEF1A
Identifiers
Aliases	RASGEF1A, CG4853, RasGEF domain family member 1A
External IDs	OMIM: 614531 MGI: 1917977 HomoloGene: 17067 GeneCards: RASGEF1A
Gene location (Human) Chr. Chromosome 10 (human) Band 10q11.21 Start 43,194,535 bp End 43,267,065 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6|6 F1 Start 117,988,399 bp End 118,068,507 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 middle temporal gyrus entorhinal cortex Brodmann area 46 postcentral gyrus superior frontal gyrus external globus pallidus cerebellar vermis occipital lobe Top expressed in piriform cortex olfactory tubercle superior frontal gyrus visual cortex nucleus accumbens primary motor cortex subiculum Region I of hippocampus proper prefrontal cortex ventromedial nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function guanyl-nucleotide exchange factor activity Cellular component cytosol Biological process positive regulation of Ras protein signal transduction cell migration MAPK cascade small GTPase mediated signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 221002 70727 Ensembl ENSG00000198915 ENSMUSG00000030134 UniProt Q8N9B8 n/a RefSeq (mRNA) NM_001282862 NM_145313 NM_027526 NM_001316749 NM_001362103 NM_001362104 NM_001362105 RefSeq (protein) NP_001269791 NP_660356 n/a Location (UCSC) Chr 10: 43.19 – 43.27 Mb Chr 6: 117.99 – 118.07 Mb PubMed search
Wikidata
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RasGEF domain family, member 1A is a protein that in humans is encoded by the RASGEF1A gene.

Further reading

• Ura K, Obama K, Satoh S, Sakai Y, Nakamura Y, Furukawa Y (Nov 2006). "Enhanced RASGEF1A expression is involved in the growth and migration of intrahepatic cholangiocarcinoma". Clinical Cancer Research. 12 (22): 6611–6. doi:10.1158/1078-0432.CCR-06-0783. PMID 17121879.
• Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chakravarti A (Apr 2005). "A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk". Nature. 434 (7035): 857–63. Bibcode:2005Natur.434..857E. doi:10.1038/nature03467. PMID 15829955. S2CID 4312809.
• Garcia-Barcelo MM, Tang CS, Ngan ES, Lui VC, Chen Y, So MT, Leon TY, Miao XP, Shum CK, Liu FQ, Yeung MY, Yuan ZW, Guo WH, Liu L, Sun XB, Huang LM, Tou JF, Song YQ, Chan D, Cheung KM, Wong KK, Cherny SS, Sham PC, Tam PK (Feb 2009). "Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease". Proceedings of the National Academy of Sciences of the United States of America. 106 (8): 2694–9. Bibcode:2009PNAS..106.2694G. doi:10.1073/pnas.0809630105. PMC 2650328. PMID 19196962.
• Yaman E, Gasper R, Koerner C, Wittinghofer A, Tazebay UH (Aug 2009). "RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-specific nucleotide exchange". The FEBS Journal. 276 (16): 4607–16. doi:10.1111/j.1742-4658.2009.07166.x. hdl:11693/22668. PMID 19645719. S2CID 13584642.
• Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM (May 2005). "Identifying candidate Hirschsprung disease-associated RET variants". American Journal of Human Genetics. 76 (5): 850–8. doi:10.1086/429589. PMC 1199373. PMID 15759212.