• Gene id: 23191

Gene Summary

• Gene Symbol: CYFIP1   Gene   UCSC   Ensembl
• Aliases: P140SRA-1, SHYC, SRA-1, SRA1
• Gene name: cytoplasmic FMR1 interacting protein 1
• Alternate names: cytoplasmic FMR1-interacting protein 1, cytoplasmic FMRP interacting protein 1, selective hybridizing clone, specifically Rac1-associated protein 1,
• Gene location: 15q11.2 (22980897: 22867051)     Exons: 34     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 606322

Protein Summary

• Protein general information: Q7L576  
  • Name: Cytoplasmic FMR1 interacting protein 1 (Specifically Rac1 associated protein 1) (Sra 1) (p140sra 1)
  • Length: 1253  
  • Mass: 145182
• Sequence:

  MAAQVTLEDALSNVDLLEELPLPDQQPCIEPPPSSLLYQPNFNTNFEDRNAFVTGIARYIEQATVHSSMNEMLEE
  GQEYAVMLYTWRSCSRAIPQVKCNEQPNRVEIYEKTVEVLEPEVTKLMNFMYFQRNAIERFCGEVRRLCHAERRK
  DFVSEAYLITLGKFINMFAVLDELKNMKCSVKNDHSAYKRAAQFLRKMADPQSIQESQNLSMFLANHNKITQSLQ
  QQLEVISGYEELLADIVNLCVDYYENRMYLTPSEKHMLLKVMGFGLYLMDGSVSNIYKLDAKKRINLSKIDKYFK
  QLQVVPLFGDMQIELARYIKTSAHYEENKSRWTCTSSGSSPQYNICEQMIQIREDHMRFISELARYSNSEVVTGS
  GRQEAQKTDAEYRKLFDLALQGLQLLSQWSAHVMEVYSWKLVHPTDKYSNKDCPDSAEEYERATRYNYTSEEKFA
  LVEVIAMIKGLQVLMGRMESVFNHAIRHTVYAALQDFSQVTLREPLRQAIKKKKNVIQSVLQAIRKTVCDWETGH
  EPFNDPALRGEKDPKSGFDIKVPRRAVGPSSTQLYMVRTMLESLIADKSGSKKTLRSSLEGPTILDIEKFHRESF
  FYTHLINFSETLQQCCDLSQLWFREFFLELTMGRRIQFPIEMSMPWILTDHILETKEASMMEYVLYSLDLYNDSA
  HYALTRFNKQFLYDEIEAEVNLCFDQFVYKLADQIFAYYKVMAGSLLLDKRLRSECKNQGATIHLPPSNRYETLL
  KQRHVQLLGRSIDLNRLITQRVSAAMYKSLELAIGRFESEDLTSIVELDGLLEINRMTHKLLSRYLTLDGFDAMF
  REANHNVSAPYGRITLHVFWELNYDFLPNYCYNGSTNRFVRTVLPFSQEFQRDKQPNAQPQYLHGSKALNLAYSS
  IYGSYRNFVGPPHFQVICRLLGYQGIAVVMEELLKVVKSLLQGTILQYVKTLMEVMPKICRLPRHEYGSPGILEF
  FHHQLKDIVEYAELKTVCFQNLREVGNAILFCLLIEQSLSLEEVCDLLHAAPFQNILPRVHVKEGERLDAKMKRL
  ESKYAPLHLVPLIERLGTPQQIAIAREGDLLTKERLCCGLSMFEVILTRIRSFLDDPIWRGPLPSNGVMHVDECV
  EFHRLWSAMQFVYCIPVGTHEFTVEQCFGDGLHWAGCMIIVLLGQQRRFAVLDFCYHLLKVQKHDGKDEIIKNVP
  LKKMVERIRKFQILNDEIITILDKYLKSGDGEGTPVEHVRCFQPPIHQSLASS

• Structural information:
  • Interpro: IPR008081  IPR009828  
  • PDB: 3P8C 4N78
  • PDBsum: 3P8C 4N78
  • DIP: 38873
  • STRING: ENSP00000481038
• Other Databases: GeneCards:  CYFIP1  Malacards:  CYFIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000340	RNA 7-methylguanosine cap binding	IBA	molecular function
GO:0000902	cell morphogenesis	IBA	biological process
GO:0006417	regulation of translation	IBA	biological process
GO:0030031	cell projection assembly	IBA	biological process
GO:0030032	lamellipodium assembly	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0007411	axon guidance	IBA	biological process
GO:0031209	SCAR complex	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0099563	modification of synaptic structure	IBA	biological process
GO:0005845	mRNA cap binding complex	ISS	cellular component
GO:0030833	regulation of actin filament polymerization	IEA	biological process
GO:0048365	Rac GTPase binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0008360	regulation of cell shape	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0035580	specific granule lumen	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0048010	vascular endothelial growth factor receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900006	positive regulation of dendrite development	IEA	biological process
GO:0050772	positive regulation of axonogenesis	IEA	biological process
GO:0045773	positive regulation of axon extension	IEA	biological process
GO:0044295	axonal growth cone	IEA	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0032433	filopodium tip	IEA	cellular component
GO:0000340	RNA 7-methylguanosine cap binding	IEA	molecular function
GO:0099578	regulation of translation at postsynapse, modulating synaptic transmission	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0030032	lamellipodium assembly	IEA	biological process
GO:0006417	regulation of translation	IEA	biological process
GO:1903422	negative regulation of synaptic vesicle recycling	IEA	biological process
GO:1900029	positive regulation of ruffle assembly	IEA	biological process
GO:0090725	peripheral region of growth cone	IEA	cellular component
GO:0090724	central region of growth cone	IEA	cellular component
GO:0060076	excitatory synapse	IEA	cellular component
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0044294	dendritic growth cone	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1905274	regulation of modification of postsynaptic actin cytoskeleton	IEA	biological process
GO:0099563	modification of synaptic structure	IEA	biological process
GO:0097484	dendrite extension	IEA	biological process
GO:0051388	positive regulation of neurotrophin TRK receptor signaling pathway	IEA	biological process
GO:0045182	translation regulator activity	IEA	molecular function
GO:0030027	lamellipodium	IEA	cellular component
GO:0005845	mRNA cap binding complex	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0050890	cognition	IMP	biological process
GO:0031209	SCAR complex	IMP	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0048365	Rac GTPase binding	IMP	contributes to
GO:2000601	positive regulation of Arp2/3 complex-mediated actin nucleation	IMP	biological process
GO:0016601	Rac protein signal transduction	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0001726	ruffle	ISS	cellular component
GO:0048365	Rac GTPase binding	ISS	molecular function
GO:0031529	ruffle organization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051015	actin filament binding	ISS	molecular function
GO:0048675	axon extension	IMP	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0030032	lamellipodium assembly	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa03013	RNA transport

Diseases

Associated diseases	References
Autism spectrum disorder	PMID:20029941
Autism spectrum disorder	PMID:24442360
Temporal lobe epilepsy	PMID:26000921
Schizophrenia	PMID:20298200
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray