CYFIP1

CYFIP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3P8C, 4N78
Identifiers
Aliases	CYFIP1 , P140SRA-1, SHYC, SRA-1, SRA1, cytoplasmic FMR1 interacting protein 1
External IDs	OMIM: 606322; MGI: 1338801; HomoloGene: 22628; GeneCards: CYFIP1; OMA:CYFIP1 - orthologs
Gene location (Human) Chr. Chromosome 15 (human) [1] Band 15q11.2 Start 22,867,052 bp [1] End 22,981,063 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 B5 Start 55,491,493 bp [2] End 55,582,350 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium gingival epithelium parietal pleura visceral pleura oral cavity tibia palpebral conjunctiva skin of hip mucosa of sigmoid colon skin of thigh Top expressed in saccule otic placode sciatic nerve otic vesicle Ileal epithelium dermis stroma of bone marrow endothelial cell of lymphatic vessel skin of external ear gastrula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding protein-containing complex binding actin filament binding protein binding RNA 7-methylguanosine cap binding translation regulator activity Cellular component extracellular exosome cytoplasm synapse cell projection cell junction cytosol SCAR complex focal adhesion lamellipodium perinuclear region of cytoplasm ruffle mRNA cap binding complex neuron projection extracellular region filopodium tip secretory granule lumen specific granule lumen soma terminal bouton dendritic spine dendritic growth cone axonal growth cone excitatory synapse central region of growth cone peripheral region of growth cone tertiary granule lumen postsynapse Biological process Rac protein signal transduction cognition Fc-gamma receptor signaling pathway involved in phagocytosis multicellular organism development ruffle organization axon extension vascular endothelial growth factor receptor signaling pathway nervous system development regulation of cell shape cell differentiation positive regulation of Arp2/3 complex-mediated actin nucleation lamellipodium assembly cellular response to insulin stimulus neutrophil degranulation positive regulation of axon extension positive regulation of axonogenesis response to electrical stimulus positive regulation of dendrite development positive regulation of ruffle assembly negative regulation of synaptic vesicle recycling neuron projection development positive regulation of neurotrophin TRK receptor signaling pathway dendrite extension regulation of translation modification of synaptic structure cell morphogenesis axon guidance cell projection assembly regulation of translation at postsynapse, modulating synaptic transmission regulation of modification of postsynaptic actin cytoskeleton Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23191 20430 Ensembl ENSG00000280618 ENSG00000273749 ENSG00000288461 ENSMUSG00000030447 UniProt Q7L576 Q7TMB8 RefSeq (mRNA) NM_001033028 NM_001287810 NM_014608 NM_001324119 NM_001324120 NM_001324122 NM_001324123 NM_001324124 NM_001324125 NM_001324126 NM_001164661 NM_001164662 NM_011370 RefSeq (protein) NP_001028200 NP_001274739 NP_001311048 NP_001311049 NP_001311051 NP_001311052 NP_001311053 NP_001311054 NP_001311055 NP_055423 NP_001158133 NP_001158134 NP_035500 Location (UCSC) Chr 15: 22.87 – 22.98 Mb Chr 7: 55.49 – 55.58 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cytoplasmic FMR1-interacting protein 1 is a protein that in humans is encoded by the CYFIP1 gene. ^{[5] [6]}

Interactions

CYFIP1 has been shown to interact with FMR1, ^[5] to the exclusion of FXR1 and FXR2. ^[5] It also forms part of the WAVE regulatory complex (WRC), ^[7] and based on the crystal structure of the WRC it is believed CYFIP1 provides the binding site for the complex to Rac1. ^[8]

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. ^{[9] [10]} 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. ^[11]

References

1. ENSG00000273749, ENSG00000288461 GRCh38: Ensembl release 89: ENSG00000280618, ENSG00000273749, ENSG00000288461 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030447 – Ensembl, 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. Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL (Jul 2001). "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". Proc Natl Acad Sci U S A. 98 (15): 8844–9. Bibcode:2001PNAS...98.8844S. doi: 10.1073/pnas.151231598 . PMC   37523 . PMID   11438699.
6. "Entrez Gene: CYFIP1 cytoplasmic FMR1 interacting protein 1".
7. Chen Z, Borek D, Padrick SB, Gomez TS, Metlagel Z, Ismail AM, Umetani J, Billadeau DD, Otwinowski Z, Rosen MK (25 Nov 2010). "Structure and control of the actin regulatory WAVE complex". Nature. 468 (7323): 533–8. Bibcode:2010Natur.468..533C. doi:10.1038/nature09623. PMC   3085272 . PMID   21107423.
8. Koronakis V, Hume PJ, Humphreys D, Liu T, Hørning O, Jensen ON, McGhie EJ (30 Aug 2011). "WAVE regulatory complex activation by cooperating GTPases Arf and Rac1". Proc Natl Acad Sci U S A. 108 (35): 14449–54. Bibcode:2011PNAS..10814449K. doi: 10.1073/pnas.1107666108 . PMC   3167530 . PMID   21844371.
9. Pathania, M.; Davenport, E. C.; Muir, J.; Sheehan, D. F.; López-Doménech, G.; Kittler, J. T. (2014-03-25). "The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines". Translational Psychiatry. 4 (3): e374. doi:10.1038/tp.2014.16. ISSN   2158-3188. PMC   3966042 . PMID   24667445.
10. Haan, Niels; Westacott, Laura J; Carter, Jenny; et al. (24 May 2021). "Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms". Translational Psychiatry. 11 (1): 313. doi:10.1038/s41398-021-01415-6. PMC   8144403 . PMID   34031371.
11. Nishimura, Yuhei; Martin, Christa L.; Vazquez-Lopez, Araceli; Spence, Sarah J.; Alvarez-Retuerto, Ana Isabel; Sigman, Marian; Steindler, Corinna; Pellegrini, Sandra; Schanen, N. Carolyn; Warren, Stephen T.; Geschwind, Daniel H. (2007-07-15). "Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways". Human Molecular Genetics. 16 (14): 1682–1698. doi:10.1093/hmg/ddm116. ISSN   0964-6906. PMID   17519220.

Further reading

• Nomura N, Nagase T, Miyajima N, et al. (1995). "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". DNA Res. 1 (5): 223–9. doi: 10.1093/dnares/1.5.223 . PMID   7584044.
• Kobayashi K, Kuroda S, Fukata M, et al. (1998). "p140Sra-1 (specifically Rac1-associated protein) is a novel specific target for Rac1 small GTPase". J. Biol. Chem. 273 (1): 291–5. doi: 10.1074/jbc.273.1.291 . PMID   9417078.
• Witke W, Podtelejnikov AV, Di Nardo A, et al. (1998). "In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly". EMBO J. 17 (4): 967–76. doi:10.1093/emboj/17.4.967. PMC   1170446 . PMID   9463375.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Chai JH, Locke DP, Greally JM, et al. (2003). "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". Am. J. Hum. Genet. 73 (4): 898–925. doi:10.1086/378816. PMC   1180611 . PMID   14508708.
• Brajenovic M, Joberty G, Küster B, et al. (2004). "Comprehensive proteomic analysis of human Par protein complexes reveals an interconnected protein network". J. Biol. Chem. 279 (13): 12804–11. doi: 10.1074/jbc.M312171200 . PMID   14676191.
• 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. Bibcode:2004NaGen..36...40O. doi: 10.1038/ng1285 . PMID   14702039.
• Innocenti M, Zucconi A, Disanza A, et al. (2004). "Abi1 is essential for the formation and activation of a WAVE2 signalling complex". Nat. Cell Biol. 6 (4): 319–27. doi:10.1038/ncb1105. PMID   15048123. S2CID   22767022.
• 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.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Kawano Y, Yoshimura T, Tsuboi D, et al. (2005). "CRMP-2 is involved in kinesin-1-dependent transport of the Sra-1/WAVE1 complex and axon formation". Mol. Cell. Biol. 25 (22): 9920–35. doi:10.1128/MCB.25.22.9920-9935.2005. PMC   1280248 . PMID   16260607.
• Bittel DC, Kibiryeva N, Butler MG (2006). "Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome". Pediatrics. 118 (4): e1276–83. doi:10.1542/peds.2006-0424. PMC   5453799 . PMID   16982806.
• Chen Z, Borek D, Padrick SB, Gomez TS, Metlagel Z, Ismail AM, Umetani J, Billadeau DD, Otwinowski Z, Rosen MK (25 Nov 2010). "Structure and control of the actin regulatory WAVE complex". Nature. 468 (7323): 533–8. Bibcode:2010Natur.468..533C. doi:10.1038/nature09623. PMC   3085272 . PMID   21107423.
• Koronakis V, Hume PJ, Humphreys D, Liu T, Hørning O, Jensen ON, McGhie EJ (30 Aug 2011). "WAVE regulatory complex activation by cooperating GTPases Arf and Rac1". Proc Natl Acad Sci U S A. 108 (35): 14449–54. Bibcode:2011PNAS..10814449K. doi: 10.1073/pnas.1107666108 . PMC   3167530 . PMID   21844371.

External links

• Human CYFIP1 genome location and CYFIP1 gene details page in the UCSC Genome Browser .
• Human SRA1 genome location and SRA1 gene details page in the UCSC Genome Browser .