Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23191
Gene name Gene Name - the full gene name approved by the HGNC.
Cytoplasmic FMR1 interacting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYFIP1
Synonyms (NCBI Gene) Gene synonyms aliases
P140SRA-1, SHYC, SRA-1, SRA1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000340 Function RNA 7-methylguanosine cap binding IBA 21873635
GO:0000902 Process Cell morphogenesis IBA 21873635
GO:0001726 Component Ruffle ISS
GO:0005515 Function Protein binding IPI 11438699, 15294869, 15296760, 16260607, 18805096, 19363480, 21107423, 24439377, 32814053
GO:0005576 Component Extracellular region TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606322 13759 ENSG00000273749
Protein
UniProt ID 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
QLQ
VVPLFGDMQIELARYIKTSAHYEENKSRWTCTSSGSSPQYNICEQMIQIREDHMRFI
SELARYSNSEVVTGSGRQEAQKTDAEYRKLFDLALQGLQLLSQWSAHVMEVYSWKLVHPT
DKYSNKDCPDSAEEYERATRYNYTSEEKFALVEVIAMIKGLQVLMGRMESVFNHAIRHTV
YAALQDFSQVTLREPLRQAIKKKKNVIQSVLQAIRKTVCDWETGHEPFNDPALRGEKDPK
SGFDIKVPRRAVGPSSTQLYMVRTMLESLIADKSGSKKTLRSSLEGPTILDIEKFHRESF
FYTHLINFSETLQQCCDLSQLWFREFFLELTMGRRIQFPIEMSMPWILTDHILETKEASM
MEYVLYSLDLYNDSAHYALTRFNKQFLYDEIEAEVNLCFDQFVYKLADQIFAYYKVMAGS
LLLDKRLRSECKNQGATIHLPPSNRYETLLKQRHVQLLGRSIDLNRLITQRVSAAMYKSL
ELAIGRFESEDLTSIVELDGLLEINRMTHKLLSRYLTLDGFDAMFREANHNVSAPYGRIT
LHVFWELNYDFLPNYCYNGSTNRFVRTVLPFSQEFQRDKQPNAQPQYLHGSKALNLAYSS
IYGSYRNFVGPPHFQVICRLLGYQGIAVVMEELLKVVKSLLQGTILQYVKTLMEVMPKIC
RLPRHEYGSPGILEFFHHQLKDIVEYAELKTVCFQNLREVGNAILFCLLIEQSLSLEEVC
DLLHAAPFQNILPRVHVKEGERLDAKMKRLESKYAPLHLVPLIERLGTPQQIAIAREGDL
LTKERLCCGLSMFEVILTRIRSFLDDPIWRGPLPSNGVMHVDECVEFHRLWSAMQFVYCI
PVGTHEFTVEQCFGDGLHWAGCMIIVLLGQQRRFAVLDFCYHLLKVQKHDGKDEIIKNVP
LKKMVERIRKFQILNDEIITIL
DKYLKSGDGEGTPVEHVRCFQPPIHQSLASS
Sequence length 1253
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
24996170
Unknown
Disease term Disease name Evidence References Source
Dermatitis Dermatitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
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