The protein encoded by this gene 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. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]
Function:
Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow.
Subcellular Location:
Cell membrane. Membrane > caveola. Nucleus. Localized in cholesterol-rich membrane raft/caveola fractions.
Tissue Specificity:
Weakly expressed in embryonic cell line (HEK-293).
Post-translational modifications:
Phosphorylated on tyrosine.
DISEASE:
Defects in SPRED1 are the cause of Legius syndrome (LEGIUSS) [MIM:611431]. It is a disorder characterized mainly by cafe au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities and attention deficit-hyperactivity.
Similarity:
Contains 1 KBD domain.
Contains 1 SPR (sprouty) domain.
Contains 1 WH1 domain.
SWISS:
Q7Z699
Gene ID:
161742
Database links:
Entrez Gene: 161742 Human
Entrez Gene: 114715 Mouse
Entrez Gene: 296072 Rat
Omim: 609291 Human
SwissProt: Q7Z699 Human
SwissProt: Q924S8 Mouse
Unigene: 525781 Human
Unigene: 245890 Mouse
Unigene: 392720 Mouse
Unigene: 392726 Mouse
Unigene: 397626 Mouse
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