SPRED1 gene
Encyclopedia
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.
in response to several growth factor
s. The encoded protein can act as a homodimer
or as a heterodimer
with SPRED2
to regulate activation of the MAP kinase cascade.
Mutations in this gene are associated with
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the SPRED1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
located on chromosome 15q13.2 and has seven coding exons.
Function
Spred-1 is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinaseTyrosine kinase
A tyrosine kinase is an enzyme that can transfer a phosphate group from ATP to a protein in a cell. It functions as an "on" or "off" switch in many cellular functions....
in response to several growth factor
Growth factor
A growth factor is a naturally occurring substance capable of stimulating cellular growth, proliferation and cellular differentiation. Usually it is a protein or a steroid hormone. Growth factors are important for regulating a variety of cellular processes....
s. The encoded protein can act as a homodimer
Protein dimer
In biochemistry, a dimer is a macromolecular complex formed by two, usually non-covalently bound, macromolecules like proteins or nucleic acids...
or as a heterodimer
Protein dimer
In biochemistry, a dimer is a macromolecular complex formed by two, usually non-covalently bound, macromolecules like proteins or nucleic acids...
with SPRED2
SPRED2
Sprouty-related, EVH1 domain-containing protein 2 is a protein that in humans is encoded by the SPRED2 gene.- Function :SPRED2 is a member of the Sprouty /SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade Sprouty-related, EVH1 domain-containing...
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 syndromeLegius syndromeLegius syndrome is an autosomal dominant condition characterized by cafe au lait spots. It is often mistaken for Neurofibromatosis type I . It is caused by mutations in the SPRED1 gene. It is also known as Neurofibromatosis Type 1-like syndrome .The syndrome is named after Eric Legius,...
. - Childhood leukemiaLeukemiaLeukemia or leukaemia is a type of cancer of the blood or bone marrow characterized by an abnormal increase of immature white blood cells called "blasts". Leukemia is a broad term covering a spectrum of diseases...
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. Blasts 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.
Disease Database
SPRED1 gene variant databaseSee also
- Neurofibromin 1Neurofibromin 1Neurofibromin 1 also known as neurofibromatosis-related protein NF-1 is a protein that in humans is encoded by the NF1 gene. Mutations in the NF1 gene are associated with neurofibromatosis type I .- Function :NF1 encodes the protein neurofibromin, which appears to be a negative regulator of the...
- Patients without Neurofibromin 1Neurofibromin 1Neurofibromin 1 also known as neurofibromatosis-related protein NF-1 is a protein that in humans is encoded by the NF1 gene. Mutations in the NF1 gene are associated with neurofibromatosis type I .- Function :NF1 encodes the protein neurofibromin, which appears to be a negative regulator of the...
or SPRED1 mutations may have SPRED2SPRED2Sprouty-related, EVH1 domain-containing protein 2 is a protein that in humans is encoded by the SPRED2 gene.- Function :SPRED2 is a member of the Sprouty /SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade Sprouty-related, EVH1 domain-containing...
, SPRED3SPRED3Sprouty-related, EVH1 domain-containing protein 3 also known as Spred-3 is a protein that in humans is encoded by the SPRED3 gene.Spred-3 is a member of the Sprouty family of proteins that regulate growth factor-induced activation of the MAP kinase cascade....
or SPRY1SPRY1Protein sprouty homolog 1 is a protein that in humans is encoded by the SPRY1 gene.-Further reading:...
, SPRY2SPRY2Sprouty homolog 2 , also known as SPRY2, is a protein which in humans is encoded by the SPRY2 gene.- Function :This gene encodes a protein belonging to the sprouty family...
, SPRY3SPRY3Protein sprouty homolog 3 is a protein that in humans is encoded by the SPRY3 gene.-Further reading:...
or SPRY4SPRY4Protein sprouty homolog 4 is a protein that in humans is encoded by the SPRY4 gene.-Further reading:...
mutations.