Phosphatidylinositol 3,4,5-Trisphosphate-Dependent RAC Exchanger 1

Alternative Names

  • PREX1
  • Kiaa1415
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OMIM Number

606905

NCBI Gene ID

57580

Uniprot ID

Q8TCU6

Length

263,934 bases

No. of Exons

44

No. of isoforms

3

Protein Name

Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein

Molecular Mass

186203 Da

Amino Acid Count

1659

Genomic Location

chr20:48,624,251-48,888,184

Gene Map Locus
20q13.13

Description

The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020820.3:c.1036+412=United Arab EmiratesNC_000020.11:g.48692260=NM_020820.3:c.1036+412=; NP_065871.2:p.?6095241
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