SPRED1_gene

SPRED1

SPRED1

Protein-coding gene in the species Homo sapiens

Sprouty-related, EVH1 domain-containing protein 1 (Spread-1) is a protein that in humans is encoded by the SPRED1 gene located on chromosome 15q13.2 and has seven coding exons.[5]

Quick Facts Available structures, PDB ...

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.[8] This mutation may result in a truncated nonfunctional protein. Blast cells analysis displayed the same abnormality as germline mutation with one mutated allele (no somatic SPRED1 single-point mutation or loss of heterozygosity was found). The M4/M5 phenotype of AML are most closely associated with 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. [1]
    GRCh38: Ensembl release 89: ENSG00000166068 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000027351 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    "Entrez Gene: sprouty-related".
  6. [6]
    Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E (November 2009). "Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome". JAMA. 302 (19): 2111–8. doi:10.1001/jama.2009.1663. PMID 19920235.
  7. [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. [8]
    Pasmant E, Ballerini P, Lapillonne H, Perot C, Vidaud D, Leverger G, Landman-Parker J (July 2009). "SPRED1 disorder and predisposition to leukemia in children". Blood. 114 (5): 1131. doi:10.1182/blood-2009-04-218503. PMID 19643996.
  9. [9]
    Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M (July 2009). "SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype". Journal of Medical Genetics. 46 (7): 431–7. doi:10.1136/jmg.2008.065474. PMID 19443465.
  10. [10]
    Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR (October 2010). "SPRED 1 mutations in a neurofibromatosis clinic". Journal of Child Neurology. 25 (10): 1203–9. doi:10.1177/0883073809359540. PMC 3243064. PMID 20179001.

Further reading

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

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