// Workers AI · dad joke modeWhat did CYFIP1 say to its friend? "You're a cy-fi pal!

CYFIP1
Identifiers
Aliases	CYFIP1, P140SRA-1, SHYC, SRA-1, SRA1, cytoplasmic FMR1 interacting protein 1
External IDs	OMIM: 606322; MGI: 1338801; GeneCards: CYFIP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3P8C, 4N78
Gene location (Human)
Chr.	Chromosome 15 (human)
End	22,981,063 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	55,582,350 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	23191
	20430
	ENSG00000280618; ENSG00000273749; ENSG00000288461
	ENSMUSG00000030447
	Q7L576
	Q7TMB8
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
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
	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 2 3 ENSG00000273749, ENSG00000288461 GRCh38: Ensembl release 89: ENSG00000280618, ENSG00000273749, ENSG00000288461 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030447 – Ensembl, May 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.
1 2 3 Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL (July 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". Proceedings of the National Academy of Sciences of the United States of America. 98 (15): 8844–8849. Bibcode:2001PNAS...98.8844S. doi:10.1073/pnas.151231598. PMC 37523. PMID 11438699.
↑ "Entrez Gene: CYFIP1 cytoplasmic FMR1 interacting protein 1".
↑ Chen Z, Borek D, Padrick SB, Gomez TS, Metlagel Z, Ismail AM, et al. (25 November 2010). "Structure and control of the actin regulatory WAVE complex". Nature. 468 (7323): 533–538. Bibcode:2010Natur.468..533C. doi:10.1038/nature09623. PMC 3085272. PMID 21107423.
↑ Koronakis V, Hume PJ, Humphreys D, Liu T, Hørning O, Jensen ON, et al. (30 August 2011). "WAVE regulatory complex activation by cooperating GTPases Arf and Rac1". Proceedings of the National Academy of Sciences of the United States of America. 108 (35): 14449–14454. Bibcode:2011PNAS..10814449K. doi:10.1073/pnas.1107666108. PMC 3167530. PMID 21844371.
↑ Pathania M, Davenport EC, Muir J, Sheehan DF, López-Doménech G, Kittler JT (March 2014). "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. PMC 3966042. PMID 24667445.
↑ Haan N, Westacott LJ, Carter J, Owen MJ, Gray WP, Hall J, et al. (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.
↑ Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, et al. (July 2007). "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. PMID 17519220.

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.

This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 ENSG00000273749, ENSG00000288461 GRCh38: Ensembl release 89: ENSG00000280618, ENSG00000273749, ENSG00000288461 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[Schenck_2001-5] 1 2 3 Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL (July 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". Proceedings of the National Academy of Sciences of the United States of America. 98 (15): 8844–8849. Bibcode:2001PNAS...98.8844S. doi:10.1073/pnas.151231598. PMC 37523. PMID 11438699.

[entrez-6] "Entrez Gene: CYFIP1 cytoplasmic FMR1 interacting protein 1".

[Chen_2010-7] Chen Z, Borek D, Padrick SB, Gomez TS, Metlagel Z, Ismail AM, et al. (25 November 2010). "Structure and control of the actin regulatory WAVE complex". Nature. 468 (7323): 533–538. Bibcode:2010Natur.468..533C. doi:10.1038/nature09623. PMC 3085272. PMID 21107423.

[Koronakis_2011-8] Koronakis V, Hume PJ, Humphreys D, Liu T, Hørning O, Jensen ON, et al. (30 August 2011). "WAVE regulatory complex activation by cooperating GTPases Arf and Rac1". Proceedings of the National Academy of Sciences of the United States of America. 108 (35): 14449–14454. Bibcode:2011PNAS..10814449K. doi:10.1073/pnas.1107666108. PMC 3167530. PMID 21844371.

[9] Pathania M, Davenport EC, Muir J, Sheehan DF, López-Doménech G, Kittler JT (March 2014). "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. PMC 3966042. PMID 24667445.

[10] Haan N, Westacott LJ, Carter J, Owen MJ, Gray WP, Hall J, et al. (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 Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, et al. (July 2007). "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. PMID 17519220.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

This page was redesigned at the edge.

A page that knows where it met you.

// Workers AI · dad joke modeWhat did CYFIP1 say to its friend? "You're a cy-fi pal!

Interactions

Medical research applications

References

Further reading

External links