FNBP1L

Full Name: Formin Binding Protein 1 Like

Genomic Location: Chromosome 1:93,448,076-93,570,905

Protein Size: 605 amino acids

Function:

Required to coordinate membrane tubulation with reorganisation of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerisation by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerisation may promote the fission of membrane tubules to form endocytic vesicles. Essential for autophagy of intracellular bacterial pathogens.

The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerisation by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton.

Linked SNP(s):

  • rs236330 is linked to FNBP1L, it is located approximately 40,000 bases upstream.
  • Population frequencies are approximately 67% for the reference allele (C) and 33% for the alternate allele (T).
  • Studies suggest the T allele is associated with higher levels of intelligence.
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