SPRED1 gene

sprouty related EVH1 domain containing 1

The SPRED1 gene provides instructions for making the Spred-1 protein, which helps control (regulate) the Ras/MAPK signaling pathway. The Ras/MAPK pathway is involved in the growth and division of cells (proliferation), the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis).

The Spred-1 protein attaches (binds) to a protein called Raf, which is part of the Ras/MAPK pathway. The binding of the Spred-1 protein blocks the activation of Raf, stopping the signaling through the remainder of the Ras/MAPK pathway.

Mutations in the SPRED1 gene cause Legius syndrome, a condition characterized by multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area.

Several mutations have been identified throughout the SPRED1 gene. These mutations lead to a nonfunctional Spred-1 protein, usually because the mutated gene provides instructions for a shortened protein. The nonfunctional Spred-1 protein is unable to bind and block the activation of the Raf protein, which means the Ras/MAPK pathway is continuously active. It is unclear how mutations in the SPRED1 gene cause the signs and symptoms of Legius syndrome.

Cytogenetic Location: 15q14, which is the long (q) arm of chromosome 15 at position 14

Molecular Location: base pairs 38,252,087 to 38,357,249 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q14, which is the long (q) arm of chromosome 15 at position 14
  • EVH1/Sprouty domain containing protein
  • FLJ33903
  • hSpred1
  • NFLS
  • PPP1R147
  • spred-1
  • sprouty-related, EVH1 domain containing 1
  • sprouty related, EVH1 domain containing 1
  • sprouty-related, EVH1 domain-containing protein 1
  • suppressor of Ras/MAPK activation