SPRED1

From Wikidoc - Reading time: 6 min

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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[edit | edit source]

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.[1]

Clinical associations[edit | edit source]

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

Mutations in this gene are associated with

Mutations[edit | edit source]

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[edit | edit source]

SPRED1 gene variant database

See also[edit | edit source]

References[edit | edit source]

  1. 1.0 1.1 1.2 "Entrez Gene: sprouty-related".
  2. 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. Lay summaryMedscape.
  3. "Legius Syndrome (SPRED1) Sequencing & (NF1) Sequencing Exon 22 (Exon 17)" (pdf). ARUP Laboratories. 2010. Retrieved 2011-06-07.
  4. 4.0 4.1 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.
  5. 5.0 5.1 5.2 5.3 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.
  6. 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[edit | edit source]

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



Licensed under CC BY-SA 3.0 | Source: https://www.wikidoc.org/index.php/SPRED1
6 views | Status: cached on August 30 2024 11:13:00
↧ Download this article as ZWI file
Encyclosphere.org EncycloReader is supported by the EncyclosphereKSF