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Gene Gene information from NCBI Gene database.
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
miRNA miRNA information provided by mirtarbase database.
134 Show/Hide all (134)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56 Show/Hide all (56)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606322 13759 ENSG00000273749
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PF05994 FragX_IP 389 → 1222 Cytoplasmic Fragile-X interacting family Family
PF07159 DUF1394 59 → 303 Protein of unknown function (DUF1394) Family
Sequence
Sequence length 1253
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Regulation of actin cytoskeleton Regulation of actin dynamics for phagocytic cup formation
Pathogenic Escherichia coli infection VEGFA-VEGFR2 Pathway
Salmonella infection RHO GTPases Activate WASPs and WAVEs
  Neutrophil degranulation
  FCGR3A-mediated phagocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (22)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA — GWAS catalog 39245941
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL SEPTAL DEFECTS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC BEHAVIOR — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (43)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 26779626
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 26779626
★★★★★
★☆☆☆☆
Found in Text Mining only
Angelman Syndrome Angelman Syndrome BEFREE 19328872
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 31707462
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 22346768, 33562221, 37724826 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 24442360, 24818597, 25311365, 29752658, 30664619, 31198525, 31371726, 31705895
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism BEFREE 16183798, 20029941, 23838881, 25258334, 28183735, 29752658, 30784587, 31371726, 31704178
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism Pubtator 16183798, 34031371, 37508583, 38483902 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 29706651
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33145876, 39408874 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only