SPRED1

From Wikipedia, the free encyclopedia
  (Redirected from SPRED1 gene)
Jump to: navigation, search
Sprouty-related, EVH1 domain containing 1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SPRED1 ; NFLS; hSpred1; spred-1
External IDs OMIM609291 MGI2150016 HomoloGene24919 GeneCards: SPRED1 Gene
Orthologs
Species Human Mouse
Entrez 161742 114715
Ensembl ENSG00000166068 ENSMUSG00000027351
UniProt Q7Z699 Q924S8
RefSeq (mRNA) NM_152594 NM_001277256
RefSeq (protein) NP_689807 NP_001264185
Location (UCSC) Chr 15:
38.54 – 38.65 Mb
Chr 2:
117.12 – 117.18 Mb
PubMed search [1] [2]

Sprouty-related, EVH1 domain-containing protein 1 (Spred-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]

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[edit]

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

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.[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]

SPRED1 gene variant database

See also[edit]

References[edit]

  1. ^ a b c "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. ^ 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. doi:10.1182/blood-2009-04-218503. PMID 19643996. 
  5. ^ 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". J. Med. Genet. 46 (7): 431–7. doi:10.1136/jmg.2008.065474. PMID 19443465. 
  6. ^ Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR, Rong Mao (October 2010). "SPRED 1 mutations in a neurofibromatosis clinic". J. Child Neurol. 25 (10): 1203–9. doi:10.1177/0883073809359540. PMID 20179001. 

Further reading[edit]

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