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FNBP1L

From Wikipedia, the free encyclopedia
FNBP1L
Identifiers
AliasesFNBP1L, C1orf39, TOCA1, formin binding protein 1 like
External IDsOMIM: 608848; MGI: 1925642; HomoloGene: 133802; GeneCards: FNBP1L; OMA:FNBP1L - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001024948
NM_001164473
NM_017737

NM_001114665
NM_153118

RefSeq (protein)

NP_001020119
NP_001157945
NP_060207

n/a

Location (UCSC)Chr 1: 93.45 – 93.55 MbChr 3: 122.33 – 122.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Formin-binding protein 1-like is a protein that in humans is encoded by the FNBP1L gene.[5][6]

Function

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The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms.[6]

Clinical significance

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FNBP1L polymorphisms, specifically the SNP rs236330 has been associated with normally varying intelligence differences in adults[7] and in children.[8]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000137942Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039735Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Katoh M, Katoh M (Dec 2003). "Identification and characterization of human FNBP1L gene in silico". Int J Mol Med. 13 (1): 157–62. doi:10.3892/ijmm.13.1.157. PMID 14654988.
  6. ^ a b "Entrez Gene: FNBP1L formin binding protein 1-like".
  7. ^ Davies G, Tenesa A, Payton A, Yang J, Harris SE, Liewald D, Ke X, Le Hellard S, Christoforou A, Luciano M, McGhee K, Lopez L, Gow AJ, Corley J, Redmond P, Fox HC, Haggarty P, Whalley LJ, McNeill G, Goddard ME, Espeseth T, Lundervold AJ, Reinvang I, Pickles A, Steen VM, Ollier W, Porteous DJ, Horan M, Starr JM, Pendleton N, Visscher PM, Deary IJ (October 2011). "Genome-wide association studies establish that human intelligence is highly heritable and polygenic". Mol. Psychiatry. 16 (10): 996–1005. doi:10.1038/mp.2011.85. PMC 3182557. PMID 21826061.
  8. ^ Benyamin B, Pourcain B, Davis OS, Davies G, Hansell NK, Brion MJ, Kirkpatrick RM, Cents RA, Franić S, Miller MB, Haworth CM, Meaburn E, Price TS, Evans DM, Timpson N, Kemp J, Ring S, McArdle W, Medland SE, Yang J, Harris SE, Liewald DC, Scheet P, Xiao X, Hudziak JJ, de Geus EJ, Jaddoe VW, Starr JM, Verhulst FC, Pennell C, Tiemeier H, Iacono WG, Palmer LJ, Montgomery GW, Martin NG, Boomsma DI, Posthuma D, McGue M, Wright MJ, Davey Smith G, Deary IJ, Plomin R, Visscher PM (January 2013). "Childhood intelligence is heritable, highly polygenic and associated with FNBP1L". Mol. Psychiatry. 19 (2): 253–8. doi:10.1038/mp.2012.184. PMC 3935975. PMID 23358156.

Further reading

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