RASGEF1A

RASGEF1A
Identifiers
Aliases RASGEF1A, CG4853, RasGEF domain family member 1A
External IDs MGI: 1917977 HomoloGene: 17067 GeneCards: RASGEF1A
Genetically Related Diseases
obesity[1]
Orthologs
Species Human Mouse
Entrez

221002

70727

Ensembl

ENSG00000198915

ENSMUSG00000030134

UniProt

Q8N9B8

n/a

RefSeq (mRNA)

NM_001282862
NM_145313

NM_027526
NM_001316749

RefSeq (protein)

NP_001269791.1
NP_660356.2

n/a

Location (UCSC) Chr 10: 43.19 – 43.27 Mb Chr 6: 118.01 – 118.09 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse

RasGEF domain family, member 1A is a protein that in humans is encoded by the RASGEF1A gene.[4]

References

  1. ↑ "Diseases that are genetically associated with RASGEF1A view/edit references on wikidata".
  2. ↑ "Human PubMed Reference:".
  3. ↑ "Mouse PubMed Reference:".
  4. ↑ "Entrez Gene: RasGEF domain family, member 1A".

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. doi:10.1038/nature03467. PMID 15829955. 
  • 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. doi:10.1073/pnas.0809630105. 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. PMID 19645719. 
  • 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. PMID 15759212. 


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