S Wikipedije, slobodne enciklopedije
Formin-vezujući protein sličan proteinu 1 jest protein koji je kod ljudi kodiran genom FNBP1L sa hromosoma 1 .[3] [4]
Dužina polipeptidnog lanca je 605 aminokiselina , a molekulska težina 70.065 Da .[5]
10 20 30 40 50 MSWGTELWDQ FDSLDKHTQW GIDFLERYAK FVKERIEIEQ NYAKQLRNLV KKYCPKRSSK DEEPRFTSCV AFFNILNELN DYAGQREVVA EEMAHRVYGE LMRYAHDLKT ERKMHLQEGR KAQQYLDMCW KQMDNSKKKF ERECREAEKA QQSYERLDND TNATKADVEK AKQQLNLRTH MADENKNEYA AQLQNFNGEQ HKHFYVVIPQ IYKQLQEMDE RRTIKLSECY RGFADSERKV IPIISKCLEG MILAAKSVDE RRDSQMVVDS FKSGFEPPGD FPFEDYSQHI YRTISDGTIS ASKQESGKMD AKTTVGKAKG KLWLFGKKPK PQSPPLTPTS LFTSSTPNGS QFLTFSIEPV HYCMNEIKTG KPRIPSFRSL KRGWSVKMGP ALEDFSHLPP EQRRKKLQQR IDELNRELQK ESDQKDALNK MKDVYEKNPQ MGDPGSLQPK LAETMNNIDR LRMEIHKNEA WLSEVEGKTG GRGDRRHSSD INHLVTQGRE SPEGSYTDDA NQEVRGPPQQ HGHHNEFDDE FEDDDPLPAI GHCKAIYPFD GHNEGTLAMK EGEVLYIIEE DKGDGWTRAR RQNGEEGYVP TSYIDVTLEK NSKGS
Protein koji je kodiran ovim genom vezuje se za CDC42 i N-WASP . Ovaj protein podstiče polimerizaciju aktina izazvanu CDC42 aktivacijom kompleksa N-WASP-WIP i stoga je uključen u put koji povezuje signale ćelijske površine sa aktinskim citoskeletom . Alternativna prerada rezultira višestrukim varijantama transkripta , koje kodiraju različite izoforme .[4]
Polimorfizam FNBP1L , posebno jednonukleotidni polimorfizam (SNP) rs236330 povezan je sa normalno promjenjivim razlikama inteligencije kod odraslih[6] [7]
^ a b c GRCh38: Ensembl release 89: ENSG00000137942 - Ensembl , maj 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ a b "Entrez Gene: FNBP1L formin binding protein 1-like" .^ "UniProt, Q5T0N5" (jezik: eng.). Pristupljeno 27. 11. 2021 .CS1 održavanje: nepoznati jezik (link ) ^ 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 (oktobar 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 . ^ 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 (januar 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 .
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