SOS RAS/RAC Guanine Nucleotide Exchange Factor 1

Alternative Names

  • SOS1
  • Son of Sevenless, Drosophila, Homolog 1
  • SOS1 Guanine Nucleotide Exchange Factor
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OMIM Number

182530

NCBI Gene ID

6654

Uniprot ID

Q07889

Length

143,349 bases

No. of Exons

25

No. of isoforms

2

Protein Name

Son of sevenless homolog 1

Molecular Mass

152464 Da

Amino Acid Count

1333

Genomic Location

chr2:38,981,396-39,124,744

Gene Map Locus
2p22.1

Description

This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [From Refseq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005633.3:c.1297G>AUnited Arab EmiratesNC_000002.12:g.39023131C>TPathogenicLikely PathogenicSOS1-related bone marrow dysplasia*NG_007530.1:g.102333G>A; NM_005633.3:c.1297G>A; NP_005624.2:p.Glu433Lys39751714740669
NM_005633.3:c.1352C>ALebanonchr2:39023076Likely PathogenicLikely Pathogenic, PathogenicNoonan Syndrome 4NG_007530.1:g.102388C>A; NM_005633.3:c.1352C>A; NP_005624.2:p.Thr451Lys730880218180531
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