Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23191
Gene name	Cytoplasmic FMR1 interacting protein 1
Gene symbol	CYFIP1
Synonyms (NCBI Gene)	P140SRA-1SHYCSRA-1SRA1
Chromosome	15
Chromosome location	15q11.2
Summary	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 Fragile X mental re

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020537	hsa-miR-155-5p	Proteomics	18668040
MIRT045329	hsa-miR-185-5p	CLASH	23622248
MIRT042272	hsa-miR-484	CLASH	23622248
MIRT041300	hsa-miR-193b-3p	CLASH	23622248
MIRT920158	hsa-miR-214	CLIP-seq
MIRT920159	hsa-miR-3619-5p	CLIP-seq
MIRT920160	hsa-miR-4291	CLIP-seq
MIRT920161	hsa-miR-761	CLIP-seq
MIRT920162	hsa-miR-922	CLIP-seq
MIRT920163	hsa-miR-1178	CLIP-seq
MIRT920164	hsa-miR-1243	CLIP-seq
MIRT920165	hsa-miR-1290	CLIP-seq
MIRT920166	hsa-miR-1292	CLIP-seq
MIRT920167	hsa-miR-2964a-5p	CLIP-seq
MIRT920168	hsa-miR-31	CLIP-seq
MIRT920169	hsa-miR-3128	CLIP-seq
MIRT920170	hsa-miR-3167	CLIP-seq
MIRT920171	hsa-miR-3613-3p	CLIP-seq
MIRT920172	hsa-miR-4471	CLIP-seq
MIRT920173	hsa-miR-4502	CLIP-seq
MIRT920174	hsa-miR-4760-5p	CLIP-seq
MIRT920175	hsa-miR-4766-5p	CLIP-seq
MIRT920176	hsa-miR-494	CLIP-seq
MIRT920177	hsa-miR-569	CLIP-seq
MIRT920178	hsa-miR-582-3p	CLIP-seq
MIRT920179	hsa-miR-582-5p	CLIP-seq
MIRT920180	hsa-miR-876-5p	CLIP-seq
MIRT1972711	hsa-miR-590-3p	CLIP-seq
MIRT2208310	hsa-miR-1	CLIP-seq
MIRT2208311	hsa-miR-103a	CLIP-seq
MIRT2208312	hsa-miR-107	CLIP-seq
MIRT920164	hsa-miR-1243	CLIP-seq
MIRT920165	hsa-miR-1290	CLIP-seq
MIRT2208313	hsa-miR-15a	CLIP-seq
MIRT2208314	hsa-miR-15b	CLIP-seq
MIRT2208315	hsa-miR-16	CLIP-seq
MIRT2208316	hsa-miR-185	CLIP-seq
MIRT2208317	hsa-miR-1909	CLIP-seq
MIRT2208318	hsa-miR-195	CLIP-seq
MIRT2208319	hsa-miR-206	CLIP-seq
MIRT2208320	hsa-miR-216a	CLIP-seq
MIRT2208321	hsa-miR-22	CLIP-seq
MIRT920167	hsa-miR-2964a-5p	CLIP-seq
MIRT2208322	hsa-miR-300	CLIP-seq
MIRT2208323	hsa-miR-3121-3p	CLIP-seq
MIRT920170	hsa-miR-3167	CLIP-seq
MIRT2208324	hsa-miR-3190	CLIP-seq
MIRT2208325	hsa-miR-3591-5p	CLIP-seq
MIRT2208326	hsa-miR-3673	CLIP-seq
MIRT2208327	hsa-miR-3681	CLIP-seq
MIRT2208328	hsa-miR-3688-3p	CLIP-seq
MIRT2208329	hsa-miR-381	CLIP-seq
MIRT2208330	hsa-miR-3910	CLIP-seq
MIRT2208331	hsa-miR-424	CLIP-seq
MIRT2208332	hsa-miR-425	CLIP-seq
MIRT2208333	hsa-miR-4306	CLIP-seq
MIRT2208334	hsa-miR-4310	CLIP-seq
MIRT2208335	hsa-miR-4422	CLIP-seq
MIRT2208336	hsa-miR-4424	CLIP-seq
MIRT2208337	hsa-miR-4460	CLIP-seq
MIRT920173	hsa-miR-4502	CLIP-seq
MIRT2208338	hsa-miR-4530	CLIP-seq
MIRT2208339	hsa-miR-4644	CLIP-seq
MIRT2208340	hsa-miR-4659a-5p	CLIP-seq
MIRT2208341	hsa-miR-4659b-5p	CLIP-seq
MIRT2208342	hsa-miR-4666-3p	CLIP-seq
MIRT2208343	hsa-miR-4716-5p	CLIP-seq
MIRT2208344	hsa-miR-4727-3p	CLIP-seq
MIRT920174	hsa-miR-4760-5p	CLIP-seq
MIRT2208345	hsa-miR-4762-3p	CLIP-seq
MIRT920175	hsa-miR-4766-5p	CLIP-seq
MIRT2208346	hsa-miR-4788	CLIP-seq
MIRT920176	hsa-miR-494	CLIP-seq
MIRT2208347	hsa-miR-497	CLIP-seq
MIRT2208348	hsa-miR-548an	CLIP-seq
MIRT2208349	hsa-miR-548c-3p	CLIP-seq
MIRT920177	hsa-miR-569	CLIP-seq
MIRT920178	hsa-miR-582-3p	CLIP-seq
MIRT920179	hsa-miR-582-5p	CLIP-seq
MIRT1972711	hsa-miR-590-3p	CLIP-seq
MIRT2208350	hsa-miR-613	CLIP-seq
MIRT2208351	hsa-miR-642b	CLIP-seq
MIRT2208352	hsa-miR-671-5p	CLIP-seq
MIRT920180	hsa-miR-876-5p	CLIP-seq
MIRT920164	hsa-miR-1243	CLIP-seq
MIRT920165	hsa-miR-1290	CLIP-seq
MIRT920170	hsa-miR-3167	CLIP-seq
MIRT2208324	hsa-miR-3190	CLIP-seq
MIRT2208325	hsa-miR-3591-5p	CLIP-seq
MIRT2208327	hsa-miR-3681	CLIP-seq
MIRT2208337	hsa-miR-4460	CLIP-seq
MIRT2208344	hsa-miR-4727-3p	CLIP-seq
MIRT2208351	hsa-miR-642b	CLIP-seq
MIRT2208352	hsa-miR-671-5p	CLIP-seq
MIRT920180	hsa-miR-876-5p	CLIP-seq
MIRT920163	hsa-miR-1178	CLIP-seq
MIRT920166	hsa-miR-1292	CLIP-seq
MIRT2512090	hsa-miR-2114	CLIP-seq
MIRT920158	hsa-miR-214	CLIP-seq
MIRT2208320	hsa-miR-216a	CLIP-seq
MIRT2208321	hsa-miR-22	CLIP-seq
MIRT2208323	hsa-miR-3121-3p	CLIP-seq
MIRT2512091	hsa-miR-335	CLIP-seq
MIRT920171	hsa-miR-3613-3p	CLIP-seq
MIRT920159	hsa-miR-3619-5p	CLIP-seq
MIRT2512092	hsa-miR-3674	CLIP-seq
MIRT2512093	hsa-miR-3914	CLIP-seq
MIRT920160	hsa-miR-4291	CLIP-seq
MIRT2208335	hsa-miR-4422	CLIP-seq
MIRT920172	hsa-miR-4471	CLIP-seq
MIRT920176	hsa-miR-494	CLIP-seq
MIRT2512094	hsa-miR-513c	CLIP-seq
MIRT2512095	hsa-miR-514b-5p	CLIP-seq
MIRT2208349	hsa-miR-548c-3p	CLIP-seq
MIRT2208351	hsa-miR-642b	CLIP-seq
MIRT920161	hsa-miR-761	CLIP-seq
MIRT920162	hsa-miR-922	CLIP-seq
MIRT920163	hsa-miR-1178	CLIP-seq
MIRT920166	hsa-miR-1292	CLIP-seq
MIRT920158	hsa-miR-214	CLIP-seq
MIRT2208321	hsa-miR-22	CLIP-seq
MIRT2512091	hsa-miR-335	CLIP-seq
MIRT920171	hsa-miR-3613-3p	CLIP-seq
MIRT920159	hsa-miR-3619-5p	CLIP-seq
MIRT2512092	hsa-miR-3674	CLIP-seq
MIRT2512093	hsa-miR-3914	CLIP-seq
MIRT920160	hsa-miR-4291	CLIP-seq
MIRT920172	hsa-miR-4471	CLIP-seq
MIRT920176	hsa-miR-494	CLIP-seq
MIRT2512094	hsa-miR-513c	CLIP-seq
MIRT2512095	hsa-miR-514b-5p	CLIP-seq
MIRT2208351	hsa-miR-642b	CLIP-seq
MIRT920161	hsa-miR-761	CLIP-seq
MIRT920162	hsa-miR-922	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000340	Function	RNA 7-methylguanosine cap binding	IBA
GO:0000902	Process	Cell morphogenesis	IBA
GO:0001726	Component	Ruffle	IEA
GO:0001726	Component	Ruffle	ISS
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11438699, 15294869, 15296760, 16260607, 18805096, 19363480, 21107423, 24439377, 32814053, 33961781, 35271311
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006417	Process	Regulation of translation	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IDA	21107423
GO:0016601	Process	Rac protein signal transduction	IMP	21107423
GO:0017148	Process	Negative regulation of translation	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030032	Process	Lamellipodium assembly	IBA
GO:0030032	Process	Lamellipodium assembly	IEA
GO:0030032	Process	Lamellipodium assembly	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030371	Function	Translation repressor activity	IEA
GO:0030371	Function	Translation repressor activity	ISS
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0031209	Component	SCAR complex	IBA
GO:0031209	Component	SCAR complex	IDA	18560548
GO:0031209	Component	SCAR complex	IMP	21107423
GO:0031252	Component	Cell leading edge	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IMP	21107423
GO:0031267	Function	Small GTPase binding	ISS
GO:0031529	Process	Ruffle organization	ISS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035580	Component	Specific granule lumen	TAS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048675	Process	Axon extension	IMP	16260607
GO:0050890	Process	Cognition	IMP	17519220
GO:0051015	Function	Actin filament binding	ISS
GO:0051388	Process	Positive regulation of neurotrophin TRK receptor signaling pathway	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0097484	Process	Dendrite extension	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0099578	Process	Regulation of translation at postsynapse, modulating synaptic transmission	IEA
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1905274	Process	Regulation of modification of postsynaptic actin cytoskeleton	IEA
GO:2000601	Process	Positive regulation of Arp2/3 complex-mediated actin nucleation	IMP	21107423

MIM	HGNC	e!Ensembl
606322	13759	ENSG00000273749

Q7L576

Protein name

Cytoplasmic FMR1-interacting protein 1 (Specifically Rac1-associated protein 1) (Sra-1) (p140sra-1)

Protein function

Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR

PDB

3P8C , 4N78 , 7USC , 7USD , 7USE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07159	DUF1394	59 → 303	Protein of unknown function (DUF1394)	Family
PF05994	FragX_IP	389 → 1222	Cytoplasmic Fragile-X interacting family	Family

Sequence

MAAQVTLEDALSNVDLLEELPLPDQQPCIEPPPSSLLYQPNFNTNFEDRNAFVTGIARYI
EQATVHSSMNEMLEEGQEYAVMLYTWRSCSRAIPQVKCNEQPNRVEIYEKTVEVLEPEVT
KLMNFMYFQRNAIERFCGEVRRLCHAERRKDFVSEAYLITLGKFINMFAVLDELKNMKCS
VKNDHSAYKRAAQFLRKMADPQSIQESQNLSMFLANHNKITQSLQQQLEVISGYEELLAD
IVNLCVDYYENRMYLTPSEKHMLLKVMGFGLYLMDGSVSNIYKLDAKKRINLSKIDKYFK
QLQVVPLFGDMQIELARYIKTSAHYEENKSRWTCTSSGSSPQYNICEQMIQIREDHMRFI
SELARYSNSEVVTGSGRQEAQKTDAEYRKLFDLALQGLQLLSQWSAHVMEVYSWKLVHPT
DKYSNKDCPDSAEEYERATRYNYTSEEKFALVEVIAMIKGLQVLMGRMESVFNHAIRHTV
YAALQDFSQVTLREPLRQAIKKKKNVIQSVLQAIRKTVCDWETGHEPFNDPALRGEKDPK
SGFDIKVPRRAVGPSSTQLYMVRTMLESLIADKSGSKKTLRSSLEGPTILDIEKFHRESF
FYTHLINFSETLQQCCDLSQLWFREFFLELTMGRRIQFPIEMSMPWILTDHILETKEASM
MEYVLYSLDLYNDSAHYALTRFNKQFLYDEIEAEVNLCFDQFVYKLADQIFAYYKVMAGS
LLLDKRLRSECKNQGATIHLPPSNRYETLLKQRHVQLLGRSIDLNRLITQRVSAAMYKSL
ELAIGRFESEDLTSIVELDGLLEINRMTHKLLSRYLTLDGFDAMFREANHNVSAPYGRIT
LHVFWELNYDFLPNYCYNGSTNRFVRTVLPFSQEFQRDKQPNAQPQYLHGSKALNLAYSS
IYGSYRNFVGPPHFQVICRLLGYQGIAVVMEELLKVVKSLLQGTILQYVKTLMEVMPKIC
RLPRHEYGSPGILEFFHHQLKDIVEYAELKTVCFQNLREVGNAILFCLLIEQSLSLEEVC
DLLHAAPFQNILPRVHVKEGERLDAKMKRLESKYAPLHLVPLIERLGTPQQIAIAREGDL
LTKERLCCGLSMFEVILTRIRSFLDDPIWRGPLPSNGVMHVDECVEFHRLWSAMQFVYCI
PVGTHEFTVEQCFGDGLHWAGCMIIVLLGQQRRFAVLDFCYHLLKVQKHDGKDEIIKNVP
LKKMVERIRKFQILNDEIITILDKYLKSGDGEGTPVEHVRCFQPPIHQSLASS

Sequence length

1253

Interactions

View interactions

	KEGG		Reactome
	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection		Regulation of actin dynamics for phagocytic cup formation VEGFA-VEGFR2 Pathway RHO GTPases Activate WASPs and WAVEs Neutrophil degranulation FCGR3A-mediated phagocytosis

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs139635799	RCV005909818
Cervical cancer	Benign; Likely benign	rs139635799	RCV005909819
Clear cell carcinoma of kidney	Benign; Likely benign	rs139635799, rs189070691	RCV005909820 RCV005910728
Colorectal cancer	Benign; Likely benign	rs139635799	RCV005909822
CYFIP1-related disorder	Uncertain significance; Likely benign	rs2506553646, rs372978790, rs534254052	RCV003402528 RCV003951661 RCV003949809
Familial cancer of breast	Benign; Likely benign	rs139635799	RCV005909817
Gastric cancer	Benign; Likely benign	rs139635799	RCV005909824
Lung cancer	Benign; Likely benign	rs139635799	RCV005909828
Melanoma	Benign; Likely benign	rs139635799	RCV005909827
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs139635799	RCV005909825
Sarcoma	Benign; Likely benign	rs139635799	RCV005909823
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs139635799	RCV005909826
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs372978790, rs139635799	RCV005933247 RCV005909829
Uveal melanoma	Benign; Likely benign	rs139635799	RCV005909821

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	22346768, 33562221, 37724826
Autistic Disorder	Associate	16183798, 34031371, 37508583, 38483902
Breast Neoplasms	Associate	33145876, 39408874
Carcinoma	Associate	28410392
Carcinoma Squamous Cell	Inhibit	28410392
Developmental Disabilities	Associate	34680874
Epilepsy	Associate	26824476
Fetal Growth Retardation	Associate	30342661
Fragile X Syndrome	Associate	37508583, 37724826
Heart Defects Congenital	Associate	25205790, 36205932
Heart Failure	Associate	36782329
Hydrocephalus	Associate	30342661
Language Development Disorders	Associate	28254235
Lymphatic Metastasis	Associate	26779626
Mental Disorders	Associate	34680874
Microcephaly	Associate	30342661
Neoplasms	Associate	26676744
Neoplasms	Inhibit	28410392
Perceptual Disorders	Associate	32188935
Prader Willi Syndrome	Associate	16982806
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	26779626
Schizophrenia	Associate	26824476, 34031371, 38483902
Spasms Infantile	Associate	29667327

CYFIP1 (cytoplasmic FMR1 interacting protein 1)