CYFIP1 Gene

Name	cytoplasmic FMR1 interacting protein 1
Description	This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization. This protein also interacts with the synaptic functional regulator FMR1 protein and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, Mar 2022]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n CYFIP1 is emerging as a multifunctional regulator that couples local protein synthesis with actin cytoskeletal remodeling in neurons. In its role within the translational machinery, CYFIP1 interacts with the fragile X mental retardation protein (FMRP) and the cap‐binding protein eIF4E to repress translation initiation under basal conditions. Synaptic activity induced by neurotrophic factors such as BDNF or metabotropic glutamate receptor stimulation triggers signaling cascades—including MNK‐mediated phosphorylation—that release CYFIP1 from the eIF4E complex, thereby permitting local translation of key synaptic mRNAs essential for plasticity and dendritic spine maintenance."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its role in translational control, CYFIP1 is a core subunit of the WAVE regulatory complex, which acts downstream of Rac1 to promote Arp2/3‐dependent actin polymerization. This activity is central to the regulation of dendritic spine morphology and synaptic connectivity, and it is critical for establishing proper neural circuitry."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Genetic studies further implicate CYFIP1 dosage alterations in neurodevelopmental and neuropsychiatric disorders. Both deletions and duplications affecting the CYFIP1 gene have been associated with autism spectrum disorder, schizophrenia, and intellectual disability, suggesting that imbalances between its roles in translational repression and actin regulation can contribute to abnormal synaptic structure and function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "10"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, CYFIP1 participates in additional regulatory networks. It forms part of repressor complexes with FMRP and TDP-43 to control the synthesis of proteins such as Rac1 and components critical for synaptic transmission."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "11"}]}, {"type": "t", "text": " Together, these studies reveal that CYFIP1 functions as a dynamic molecular switch that integrates extracellular signals with intracellular responses, thereby modulating synaptic plasticity, neuronal connectivity, and, in non-neuronal contexts, cell adhesion and migration.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ilaria Napoli, Valentina Mercaldo, Pietro Pilo Boyl, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2008.07.031"}], "href": "https://doi.org/10.1016/j.cell.2008.07.031"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18805096"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18805096"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Clive R Bramham, Kirk B Jensen, Christopher G Proud "}, {"type": "b", "children": [{"type": "t", "text": "Tuning Specific Translation in Cancer Metastasis and Synaptic Memory: Control at the MNK-eIF4E Axis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Trends Biochem Sci (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.tibs.2016.07.008"}], "href": "https://doi.org/10.1016/j.tibs.2016.07.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27527252"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27527252"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Maja Genheden, Justin W Kenney, Harvey E Johnston, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BDNF stimulation of protein synthesis in cortical neurons requires the MAP kinase-interacting kinase MNK1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.2641-14.2015"}], "href": "https://doi.org/10.1523/JNEUROSCI.2641-14.2015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25609615"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25609615"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Anika Steffen, Klemens Rottner, Julia Ehinger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sra-1 and Nap1 link Rac to actin assembly driving lamellipodia formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO J (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.emboj.7600084"}], "href": "https://doi.org/10.1038/sj.emboj.7600084"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14765121"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14765121"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Silvia De Rubeis, Emanuela Pasciuto, Ka Wan Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuron (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuron.2013.06.039"}], "href": "https://doi.org/10.1016/j.neuron.2013.06.039"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24050404"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24050404"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Jose M Silva, Elena Ezhkova, Javier Silva, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cyfip1 is a putative invasion suppressor in epithelial cancers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2009.04.013"}], "href": "https://doi.org/10.1016/j.cell.2009.04.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19524508"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19524508"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Nuria Domínguez-Iturza, Adrian C Lo, Disha Shah, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-019-11203-y"}], "href": "https://doi.org/10.1038/s41467-019-11203-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31371726"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31371726"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Claire S Leblond, Jutta Heinrich, Richard Delorme, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1002521"}], "href": "https://doi.org/10.1371/journal.pgen.1002521"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22346768"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22346768"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Nora Urraca, Julie Cleary, Victoria Brewer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Autism Res (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/aur.1284"}], "href": "https://doi.org/10.1002/aur.1284"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23495136"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23495136"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Regina Waltes, Eftichia Duketis, Michael Knapp, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-013-1416-y"}], "href": "https://doi.org/10.1007/s00439-013-1416-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24442360"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24442360"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Pritha Majumder, Jen-Fei Chu, Biswanath Chatterjee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Neuropathol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00401-016-1603-8"}], "href": "https://doi.org/10.1007/s00401-016-1603-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27518042"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27518042"}]}]}]}
Synonyms	SHYC, P140SRA-1, SRA-1
Proteins	CYFP1_HUMAN
NCBI Gene ID	23191
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CYFIP1 has 8,514 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 131 datasets.

Click the + buttons to view associations for CYFIP1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CYFIP1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CYFIP1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CYFIP1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CYFIP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CYFIP1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CYFIP1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CYFIP1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CYFIP1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CYFIP1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CYFIP1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CYFIP1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CYFIP1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with CYFIP1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with CYFIP1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CYFIP1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CYFIP1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CYFIP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CYFIP1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CYFIP1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CYFIP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CYFIP1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CYFIP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CYFIP1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	CORUM Protein Complexes	protein complexs containing CYFIP1 protein from the CORUM Protein Complexes dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CYFIP1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CYFIP1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CYFIP1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CYFIP1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CYFIP1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of CYFIP1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CYFIP1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CYFIP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CYFIP1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CYFIP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CYFIP1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CYFIP1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CYFIP1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CYFIP1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CYFIP1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CYFIP1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with CYFIP1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.