Biology:SPRED1

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example


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.[1]

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.[1]

Clinical associations

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

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.[4] 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)[5]
  • 2 Frameshift (c.1048_c1049 delGG, c.149_1152del 4 bp)[5]
  • Missense (V44D)[5]
  • p.R18X and p.Q194X with phenotype altered pigmentation without tumoriginesis.[6]

Disease Database

SPRED1 gene variant database

See also

References

  1. 1.0 1.1 1.2 "Entrez Gene: sprouty-related". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=161742. 
  2. "Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome". JAMA 302 (19): 2111–8. November 2009. doi:10.1001/jama.2009.1663. PMID 19920235. 
  3. "Legius Syndrome (SPRED1) Sequencing & (NF1) Sequencing Exon 22 (Exon 17)". ARUP Laboratories. 2010. http://www.aruplab.com/Testing-Information/resources/TechnicalBulletins/Legius%20Syndrome%20%28SPRED1%29%20Sequencing%20%26%20%28NF1%29%20Sequencing%20Exon%2022%20%28Exon%2017%29.pdf. 
  4. 4.0 4.1 "SPRED1 disorder and predisposition to leukemia in children". Blood 114 (5): 1131. July 2009. doi:10.1182/blood-2009-04-218503. PMID 19643996. 
  5. 5.0 5.1 5.2 5.3 "SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype". Journal of Medical Genetics 46 (7): 431–7. July 2009. doi:10.1136/jmg.2008.065474. PMID 19443465. 
  6. "SPRED 1 mutations in a neurofibromatosis clinic". Journal of Child Neurology 25 (10): 1203–9. October 2010. doi:10.1177/0883073809359540. PMID 20179001. 

Further reading

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