SPRED1

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SPRED1 gene
)
SPRED1
Available structures
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_152594

NM_001277256
NM_033524

RefSeq (protein)

NP_689807

NP_001264185
NP_277059

Location (UCSC)Chr 15: 38.25 – 38.36 MbChr 2: 116.95 – 117.01 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sprouty-related, EVH1 domain-containing protein 1 (Spread-1) is a

exons.[5]

Function

SPRED-1 is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade.[5]

Clinical associations

Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS).[5]

Mutations in this gene are associated with

Mutations

The following mutations have been observed:

  • An exon 3 c.46C>T mutation leading to p.Arg16Stop.
    Ras pathway
    mutations. Ras pathway mutations are also associated with monosomy 7.
  • 3 Nonsense (R16X, E73X, R262X)[9]
  • 2 Frameshift (c.1048_c1049 delGG, c.149_1152del 4 bp)[9]
  • Missense (V44D)[9]
  • p.R18X and p.Q194X with phenotype altered pigmentation without tumoriginesis.[10]

Disease Database

SPRED1 gene variant database

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166068 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027351 - 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. ^ a b c "Entrez Gene: sprouty-related".
  6. PMID 19920235
    .
  7. ^ "Legius Syndrome (SPRED1) Sequencing & (NF1) Sequencing Exon 22 (Exon 17)" (PDF). ARUP Laboratories. 2010. Archived from the original (PDF) on 2012-05-30. Retrieved 2011-06-07.
  8. ^
    PMID 19643996
    .
  9. ^ .
  10. .

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.