CYFIP1

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Cytoplasmic FMR1-interacting protein 1''' is a protein that in humans is encoded by the ''CYFIP1'' gene.<ref name="pmid11438699">{{cite journal | vauthors = Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL | title = A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P | journal = Proc Natl Acad Sci U S A | volume = 98 | issue = 15 | pages = 8844–9 |date=Jul 2001 | pmid = 11438699 | pmc = 37523 | doi = 10.1073/pnas.151231598 | bibcode = 2001PNAS...98.8844S | doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CYFIP1 cytoplasmic FMR1 interacting protein 1| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=23191| access-date = }}</ref>

==Interactions== CYFIP1 has been shown to interact with FMR1,<ref name=pmid11438699/> to the exclusion of FXR1 and FXR2.<ref name=pmid11438699 /> It also forms part of the WAVE regulatory complex (WRC),<ref name="pmid21107423">{{cite journal | vauthors = Chen Z, Borek D, Padrick SB, Gomez TS, Metlagel Z, Ismail AM, Umetani J, Billadeau DD, Otwinowski Z, Rosen MK | title = Structure and control of the actin regulatory WAVE complex| journal = Nature | volume = 468| issue = 7323 | pages = 533–8 |date=25 Nov 2010 | pmid = 21107423| pmc = 3085272 | doi = 10.1038/nature09623 | bibcode = 2010Natur.468..533C}}</ref> and based on the crystal structure of the WRC it is believed CYFIP1 provides the binding site for the complex to Rac1.<ref name="pmid21844371">{{cite journal | vauthors = Koronakis V, Hume PJ, Humphreys D, Liu T, Hørning O, Jensen ON, McGhie EJ | title = WAVE regulatory complex activation by cooperating GTPases Arf and Rac1| journal = Proc Natl Acad Sci U S A | volume = 108| issue = 35 | pages = 14449–54 |date=30 Aug 2011 | pmid = 21844371 | pmc = 3167530 | doi = 10.1073/pnas.1107666108 | bibcode = 2011PNAS..10814449K| doi-access = free}}</ref>

== Medical research applications == The CYFIP1 gene with haploinsufficiency may provide a model for the associated neuropsychiatric and neurological phenotypes of disorders such as autism and schizophrenia.<ref>{{Cite journal |last1=Pathania |first1=M. |last2=Davenport |first2=E. C. |last3=Muir |first3=J. |last4=Sheehan |first4=D. F. |last5=López-Doménech |first5=G. |last6=Kittler |first6=J. T. |date=2014-03-25 |title=The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines |journal=Translational Psychiatry |volume=4 |issue=3 |pages=e374 |doi=10.1038/tp.2014.16 |issn=2158-3188 |pmc=3966042 |pmid=24667445}}</ref><ref>{{cite journal |last1=Haan |first1=Niels |last2=Westacott |first2=Laura J |last3=Carter |first3=Jenny |last4=Owen |first4=Michael J |last5=Gray |first5=William P |last6=Hall |first6=Jeremy |last7=Wilkinson |first7=Lawrence S |display-authors=3 |date=24 May 2021 |title=Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms |journal=Translational Psychiatry |volume=11 |issue=1 |page=313 |doi=10.1038/s41398-021-01415-6 |pmc=8144403 |pmid=34031371 }} </ref> With autism, a potential molecular link was identified between FMR1-FM and the genetic disorder dup(15q), in terms of the cytoplasmic FMR1 interacting protein 1 (CYFIP1) up regulated in those with the disorder.<ref>{{Cite journal |last1=Nishimura |first1=Yuhei |last2=Martin |first2=Christa L. |last3=Vazquez-Lopez |first3=Araceli |last4=Spence |first4=Sarah J. |last5=Alvarez-Retuerto |first5=Ana Isabel |last6=Sigman |first6=Marian |last7=Steindler |first7=Corinna |last8=Pellegrini |first8=Sandra |last9=Schanen |first9=N. Carolyn |last10=Warren |first10=Stephen T. |last11=Geschwind |first11=Daniel H. |date=2007-07-15 |title=Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways |journal=Human Molecular Genetics |volume=16 |issue=14 |pages=1682–1698 |doi=10.1093/hmg/ddm116 |issn=0964-6906 |pmid=17519220}}</ref>

==References== {{reflist}}

==Further reading== {{refbegin | 2}} *{{cite journal | vauthors=Nomura N, Nagase T, Miyajima N |title=Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. |journal=DNA Res. |volume=1 |issue= 5 |pages= 223–9 |year= 1995 |pmid= 7584044 |doi=10.1093/dnares/1.5.223 |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Kobayashi K, Kuroda S, Fukata M |title=p140Sra-1 (specifically Rac1-associated protein) is a novel specific target for Rac1 small GTPase. |journal=J. Biol. Chem. |volume=273 |issue= 1 |pages= 291–5 |year= 1998 |pmid= 9417078 |doi=10.1074/jbc.273.1.291 |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Witke W, Podtelejnikov AV, Di Nardo A |title=In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly. |journal=EMBO J. |volume=17 |issue= 4 |pages= 967–76 |year= 1998 |pmid= 9463375 |doi= 10.1093/emboj/17.4.967 | pmc=1170446 |display-authors=etal}} *{{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 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }} *{{cite journal | vauthors=Chai JH, Locke DP, Greally JM |title=Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. |journal=Am. J. Hum. Genet. |volume=73 |issue= 4 |pages= 898–925 |year= 2003 |pmid= 14508708 |doi=10.1086/378816 | pmc=1180611 |display-authors=etal}} *{{cite journal | vauthors=Brajenovic M, Joberty G, Küster B |title=Comprehensive proteomic analysis of human Par protein complexes reveals an interconnected protein network. |journal=J. Biol. Chem. |volume=279 |issue= 13 |pages= 12804–11 |year= 2004 |pmid= 14676191 |doi= 10.1074/jbc.M312171200 |display-authors=etal|doi-access=free }} *{{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|bibcode=2004NaGen..36...40O |doi-access=free }} *{{cite journal | vauthors=Innocenti M, Zucconi A, Disanza A |title=Abi1 is essential for the formation and activation of a WAVE2 signalling complex. |journal=Nat. Cell Biol. |volume=6 |issue= 4 |pages= 319–27 |year= 2004 |pmid= 15048123 |doi= 10.1038/ncb1105 |s2cid=22767022 |display-authors=etal}} *{{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 | vauthors=Rual JF, Venkatesan K, Hao T |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |bibcode=2005Natur.437.1173R |s2cid=4427026 |display-authors=etal}} *{{cite journal | vauthors=Kawano Y, Yoshimura T, Tsuboi D |title=CRMP-2 is involved in kinesin-1-dependent transport of the Sra-1/WAVE1 complex and axon formation. |journal=Mol. Cell. Biol. |volume=25 |issue= 22 |pages= 9920–35 |year= 2005 |pmid= 16260607 |doi= 10.1128/MCB.25.22.9920-9935.2005 | pmc=1280248 |display-authors=etal}} *{{cite journal | vauthors=Bittel DC, Kibiryeva N, Butler MG |title=Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. |journal=Pediatrics |volume=118 |issue= 4 |pages= e1276–83 |year= 2006 |pmid= 16982806 |doi= 10.1542/peds.2006-0424 |pmc= 5453799 }} *{{cite journal | vauthors = Chen Z, Borek D, Padrick SB, Gomez TS, Metlagel Z, Ismail AM, Umetani J, Billadeau DD, Otwinowski Z, Rosen MK | title = Structure and control of the actin regulatory WAVE complex| journal = Nature | volume = 468| issue = 7323 | pages = 533–8 |date=25 Nov 2010 | pmid = 21107423| pmc = 3085272 | doi = 10.1038/nature09623 | bibcode = 2010Natur.468..533C}} *{{cite journal | vauthors = Koronakis V, Hume PJ, Humphreys D, Liu T, Hørning O, Jensen ON, McGhie EJ | title = WAVE regulatory complex activation by cooperating GTPases Arf and Rac1| journal = Proc Natl Acad Sci U S A | volume = 108| issue = 35 | pages = 14449–54 |date=30 Aug 2011 | pmid = 21844371 | pmc = 3167530 | doi = 10.1073/pnas.1107666108 | bibcode = 2011PNAS..10814449K| doi-access = free}} {{refend}}

==External links== * {{UCSC gene info|CYFIP1}} * {{UCSC gene info|SRA1}}