FNBP1L

FNBP1L
Identifikatori
Aliasi	FNBP1L
Vanjski ID-jevi	OMIM: 608848 MGI: 1925642 HomoloGene: 133802 GeneCards: FNBP1L
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	93,554,661 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	122,413,364 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • lipid binding; • GTPase binding; • cadherin binding;
Ćelijska komponenta	• citoplazma; • membrana; • ćelijska membrana; • cell cortex; • citoskelet; • GO:0016023 citoplazmatska vezikula; • citosol;
Biološki proces	• Endocitoza; • vesicle organization; • membrane invagination; • plasma membrane tubulation; • Autofagija; • clathrin-dependent endocytosis; • vesicle budding from membrane; • vesicle transport along actin filament; • positive regulation of filopodium assembly; • cilium assembly; • membrane organization;
	Izvori:Amigo / QuickGO
Ortolozi
	54874
	214459
	ENSG00000137942
	ENSMUSG00000039735
	Q5T0N5
	Q8K012
	NM_001024948; NM_001164473; NM_017737
	NM_001114665; NM_153118
	NP_001020119; NP_001157945; NP_060207
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Formin-vezujući protein sličan proteinu 1 jest protein koji je kod ljudi kodiran genom FNBP1L sa hromosoma 1.^[5]^[6]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 605 aminokiselina, a molekulska težina 70.065 Da.^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

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

Funkcija

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.^[6]

Klinički značaj

Polimorfizam FNBP1L, posebno jednonukleotidni polimorfizam (SNP) rs236330 povezan je sa normalno promjenjivim razlikama inteligencije kod odraslih^[8] i kod djece.^[9]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000137942 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039735 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse 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.

Dopunska literatura

Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Ho HY, Rohatgi R, Lebensohn AM, et al. (2004). "Toca-1 mediates Cdc42-dependent actin nucleation by activating the N-WASP-WIP complex". Cell. 118 (2): 203–16. doi:10.1016/j.cell.2004.06.027. PMID 15260990. S2CID 15516629.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
Itoh T, Erdmann KS, Roux A, et al. (2006). "Dynamin and the actin cytoskeleton cooperatively regulate plasma membrane invagination by BAR and F-BAR proteins". Dev. Cell. 9 (6): 791–804. doi:10.1016/j.devcel.2005.11.005. PMID 16326391.
Tsujita K, Suetsugu S, Sasaki N, et al. (2006). "Coordination between the actin cytoskeleton and membrane deformation by a novel membrane tubulation domain of PCH proteins is involved in endocytosis". J. Cell Biol. 172 (2): 269–79. doi:10.1083/jcb.200508091. PMC 2063556. PMID 16418535.
Aspenström P, Richnau N, Johansson AS (2006). "The diaphanous-related formin DAAM1 collaborates with the Rho GTPases RhoA and Cdc42, CIP4 and Src in regulating cell morphogenesis and actin dynamics". Exp. Cell Res. 312 (12): 2180–94. doi:10.1016/j.yexcr.2006.03.013. PMID 16630611.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
Kovacs EM, Makar RS, Gertler FB (2006). "Tuba stimulates intracellular N-WASP-dependent actin assembly". J. Cell Sci. 119 (Pt 13): 2715–26. doi:10.1242/jcs.03005. PMID 16757518.
Kakimoto T, Katoh H, Negishi M (2006). "Regulation of neuronal morphology by Toca-1, an F-BAR/EFC protein that induces plasma membrane invagination". J. Biol. Chem. 281 (39): 29042–53. doi:10.1074/jbc.M604025200. PMID 16885158.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000137942 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039735 - Ensembl, maj 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.

[pmid14654988-5] 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.

[entrez-6] "Entrez Gene: FNBP1L formin binding protein 1-like".

[UniProt-7] "UniProt, Q5T0N5" (jezik: eng.). Pristupljeno 27. 11. 2021.CS1 održavanje: nepoznati jezik (link)

[pmid21826061-8] 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.

[pmid23358156-9] 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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