SPRED1

Updated on Nov 06, 2023

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Species Human Entrez 161742		Human Mouse Ensembl ENSG00000166068
Aliases SPRED1, NFLS, PPP1R147, hSpred1, spred-1, sprouty related EVH1 domain containing 1 External IDs MGI: 2150016 HomoloGene: 24919 GeneCards: SPRED1

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.

Function

Spread-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.

Clinical associations

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

Mutations in this gene are associated with

Legius syndrome.

Childhood leukemia

Mutations

The following mutations have been observed:

An exon 3 c.46C>T mutation leading to p.Arg16Stop. 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)

2 Frameshift (c.1048_c1049 delGG, c.149_1152del 4 bp)

Missense (V44D)

p.R18X and p.Q194X with phenotype altered pigmentation without tumoriginesis.