RASGEF1A

Protein-coding gene in the species Homo sapiens
RASGEF1A
Identifiers
AliasesRASGEF1A, CG4853, RasGEF domain family member 1A
External IDsOMIM: 614531 MGI: 1917977 HomoloGene: 17067 GeneCards: RASGEF1A
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for RASGEF1A
Genomic location for RASGEF1A
Band10q11.21Start43,194,535 bp[1]
End43,267,065 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for RASGEF1A
Genomic location for RASGEF1A
Band6|6 F1Start117,988,399 bp[2]
End118,068,507 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 6: 117.99 – 118.07 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

RasGEF domain family, member 1A is a protein that in humans is encoded by the RASGEF1A gene.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000198915 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030134 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "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. 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.


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