SPRED1

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SPRED1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SPRED1, NFLS, PPP1R147, hSpred1, spred-1, sprouty related EVH1 domain containing 1
External IDs MGI: 2150016 HomoloGene: 24919 GeneCards: SPRED1
Gene location (Human)
Chromosome 15 (human)
Chr. Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for SPRED1
Genomic location for SPRED1
Band 15q14 Start 38,252,326 bp[1]
End 38,357,249 bp[1]
Orthologs
Species Human Mouse
Entrez
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 Mb Chr 15: 117.12 – 117.18 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Function[edit]

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.[5]

Clinical associations[edit]

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

Mutations in this gene are associated with

Mutations[edit]

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[edit]

SPRED1 gene variant database

See also[edit]

References[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b c "Entrez Gene: sprouty-related". 
  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. PMID 19920235. doi:10.1001/jama.2009.1663. Lay summaryMedscape. 
  7. ^ "Legius Syndrome (SPRED1) Sequencing & (NF1) Sequencing Exon 22 (Exon 17)" (pdf). ARUP Laboratories. 2010. Retrieved 2011-06-07. 
  8. ^ a b 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. PMID 19643996. doi:10.1182/blood-2009-04-218503. 
  9. ^ a b c d 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. PMID 19443465. doi:10.1136/jmg.2008.065474. 
  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. PMC 3243064Freely accessible. PMID 20179001. doi:10.1177/0883073809359540. 

Further reading[edit]

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