FNBP1L: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Formin-binding protein 1-like''' is a [[protein]] that in humans is encoded by the ''FNBP1L'' [[gene]].<ref name="pmid14654988">{{cite journal |vauthors=Katoh M, Katoh M | title = Identification and characterization of human FNBP1L gene in silico | journal = Int J Mol Med | volume = 13 | issue = 1 | pages = 157–62 |date=Dec 2003 | pmid = 14654988 | pmc = | doi = 10.3892/ijmm.13.1.157}}</ref><ref name="entrez"/>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Formin binding protein 1-like
| HGNCid = 20851
| Symbol = FNBP1L
| AltSymbols =; C1orf39; TOCA1
| OMIM = 608848
| ECnumber = 
| Homologene = 20898
| MGIid = 1925642
| Function = {{GNF_GO|id=GO:0008289 |text = lipid binding}}
| Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006897 |text = endocytosis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 54874
    | Hs_Ensembl = ENSG00000137942
    | Hs_RefseqProtein = NP_001020119
    | Hs_RefseqmRNA = NM_001024948
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 93686246
    | Hs_GenLoc_end = 93792806
    | Hs_Uniprot = Q5T0N5
    | Mm_EntrezGene = 214459
    | Mm_Ensembl = ENSMUSG00000039735
    | Mm_RefseqmRNA = NM_153118
    | Mm_RefseqProtein = NP_694758
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 122530746
    | Mm_GenLoc_end = 122582265
    | Mm_Uniprot = Q8K012
  }}
}}
'''Formin binding protein 1-like''', also known as '''FNBP1L''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FNBP1L formin binding protein 1-like| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54874| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez">{{cite web | title = Entrez Gene: FNBP1L formin binding protein 1-like| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54874| accessdate = }}</ref>
{{PBB_Summary
 
| section_title =
== Clinical significance ==
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: FNBP1L formin binding protein 1-like| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54874| accessdate = }}</ref>
 
}}
''FNBP1L'' [[polymorphism (biology)|polymorphism]]s, specifically the [[single-nucleotide polymorphism|SNP]] rs236330 has been associated with normally varying [[IQ|intelligence]] differences in adults<ref name="pmid21826061">{{cite journal |vauthors=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 | title = Genome-wide association studies establish that human intelligence is highly heritable and polygenic | journal = Mol. Psychiatry | volume = 16 | issue = 10 | pages = 996–1005 |date=October 2011 | pmid = 21826061 | pmc = 3182557 | doi = 10.1038/mp.2011.85 }}</ref> and in children.<ref name="pmid23358156">{{cite journal |vauthors=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 | title = Childhood intelligence is heritable, highly polygenic and associated with FNBP1L | journal = Mol. Psychiatry | volume = 19| issue = 2| pages = 253–8|date=January 2013 | pmid = 23358156 | doi = 10.1038/mp.2012.184 | pmc=3935975}}</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal  |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |display-authors=etal}}
| citations =
*{{cite journal  |vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  |vauthors=Ho HY, Rohatgi R, Lebensohn AM |title=Toca-1 mediates Cdc42-dependent actin nucleation by activating the N-WASP-WIP complex |journal=Cell |volume=118 |issue= 2 |pages= 203–16 |year= 2004 |pmid= 15260990 |doi= 10.1016/j.cell.2004.06.027 |display-authors=etal}}
*{{cite journal | author=Katoh M, Katoh M |title=Identification and characterization of human FNBP1L gene in silico. |journal=Int. J. Mol. Med. |volume=13 |issue= 1 |pages= 157-62 |year= 2004 |pmid= 14654988 |doi= }}
*{{cite journal  |vauthors=Gerhard DS, Wagner L, Feingold EA |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  |vauthors=Stelzl U, Worm U, Lalowski M |title=A human protein-protein interaction network: a resource for annotating the proteome |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 |display-authors=etal}}
*{{cite journal  | author=Ho HY, Rohatgi R, Lebensohn AM, ''et al.'' |title=Toca-1 mediates Cdc42-dependent actin nucleation by activating the N-WASP-WIP complex. |journal=Cell |volume=118 |issue= 2 |pages= 203-16 |year= 2004 |pmid= 15260990 |doi= 10.1016/j.cell.2004.06.027 }}
*{{cite journal  |vauthors=Itoh T, Erdmann KS, Roux A |title=Dynamin and the actin cytoskeleton cooperatively regulate plasma membrane invagination by BAR and F-BAR proteins |journal=Dev. Cell |volume=9 |issue= 6 |pages= 791–804 |year= 2006 |pmid= 16326391 |doi= 10.1016/j.devcel.2005.11.005 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  |vauthors=Tsujita K, Suetsugu S, Sasaki N |title=Coordination between the actin cytoskeleton and membrane deformation by a novel membrane tubulation domain of PCH proteins is involved in endocytosis |journal=J. Cell Biol. |volume=172 |issue= 2 |pages= 269–79 |year= 2006 |pmid= 16418535 |doi= 10.1083/jcb.200508091 | pmc=2063556 |display-authors=etal}}
*{{cite journal  | author=Stelzl U, Worm U, Lalowski M, ''et al.'' |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957-68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 }}
*{{cite journal  |vauthors=Aspenström P, Richnau N, Johansson AS |title=The diaphanous-related formin DAAM1 collaborates with the Rho GTPases RhoA and Cdc42, CIP4 and Src in regulating cell morphogenesis and actin dynamics |journal=Exp. Cell Res. |volume=312 |issue= 12 |pages= 2180–94 |year= 2006 |pmid= 16630611 |doi= 10.1016/j.yexcr.2006.03.013 }}
*{{cite journal  | author=Itoh T, Erdmann KS, Roux A, ''et al.'' |title=Dynamin and the actin cytoskeleton cooperatively regulate plasma membrane invagination by BAR and F-BAR proteins. |journal=Dev. Cell |volume=9 |issue= 6 |pages= 791-804 |year= 2006 |pmid= 16326391 |doi= 10.1016/j.devcel.2005.11.005 }}
*{{cite journal  |vauthors=Gregory SG, Barlow KF, McLay KE |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 |display-authors=etal}}
*{{cite journal  | author=Tsujita K, Suetsugu S, Sasaki N, ''et al.'' |title=Coordination between the actin cytoskeleton and membrane deformation by a novel membrane tubulation domain of PCH proteins is involved in endocytosis. |journal=J. Cell Biol. |volume=172 |issue= 2 |pages= 269-79 |year= 2006 |pmid= 16418535 |doi= 10.1083/jcb.200508091 }}
*{{cite journal  |vauthors=Kovacs EM, Makar RS, Gertler FB |title=Tuba stimulates intracellular N-WASP-dependent actin assembly |journal=J. Cell Sci. |volume=119 |issue= Pt 13 |pages= 2715–26 |year= 2006 |pmid= 16757518 |doi= 10.1242/jcs.03005 }}
*{{cite journal  | author=Aspenström P, Richnau N, Johansson AS |title=The diaphanous-related formin DAAM1 collaborates with the Rho GTPases RhoA and Cdc42, CIP4 and Src in regulating cell morphogenesis and actin dynamics. |journal=Exp. Cell Res. |volume=312 |issue= 12 |pages= 2180-94 |year= 2006 |pmid= 16630611 |doi= 10.1016/j.yexcr.2006.03.013 }}
*{{cite journal  |vauthors=Kakimoto T, Katoh H, Negishi M |title=Regulation of neuronal morphology by Toca-1, an F-BAR/EFC protein that induces plasma membrane invagination |journal=J. Biol. Chem. |volume=281 |issue= 39 |pages= 29042–53 |year= 2006 |pmid= 16885158 |doi= 10.1074/jbc.M604025200 }}
*{{cite journal  | author=Gregory SG, Barlow KF, McLay KE, ''et al.'' |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315-21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
*{{cite journal  | author=Kovacs EM, Makar RS, Gertler FB |title=Tuba stimulates intracellular N-WASP-dependent actin assembly. |journal=J. Cell. Sci. |volume=119 |issue= Pt 13 |pages= 2715-26 |year= 2006 |pmid= 16757518 |doi= 10.1242/jcs.03005 }}
*{{cite journal  | author=Kakimoto T, Katoh H, Negishi M |title=Regulation of neuronal morphology by Toca-1, an F-BAR/EFC protein that induces plasma membrane invagination. |journal=J. Biol. Chem. |volume=281 |issue= 39 |pages= 29042-53 |year= 2006 |pmid= 16885158 |doi= 10.1074/jbc.M604025200 }}
}}
{{refend}}
{{refend}}


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Latest revision as of 13:24, 29 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

n/a

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Formin-binding protein 1-like is a protein that in humans is encoded by the FNBP1L gene.[1][2]

Function

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.[2]

Clinical significance

FNBP1L polymorphisms, specifically the SNP rs236330 has been associated with normally varying intelligence differences in adults[3] and in children.[4]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: FNBP1L formin binding protein 1-like".
  3. ↑ 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.
  4. ↑ 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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