CYFIP1: Cytoplasmic FMR1 Interacting Protein 1
A key regulator of actin dynamics and translation in neuronal development and disease
Gene Information Card
| Symbol | CYFIP1 |
|---|---|
| Full Name | cytoplasmic FMR1 interacting protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q11.2 |
| NCBI Gene ID | 23191 ncbi.nlm.nih.gov/gene/23191 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q7L576 |
| OMIM ID | 606322 |
| HGNC ID | 13762 |
| Aliases | SRA1, P140SRA-1, SHYC, CYFIP |
Description
CYFIP1 (cytoplasmic FMR1 interacting protein 1) encodes a protein that interacts with FMRP (Fragile X Mental Retardation Protein) and is a component of the WAVE regulatory complex, which regulates actin polymerization. It plays a critical role in neuronal development, synaptic plasticity, and translation control. Deletions or duplications of the 15q11.2 region encompassing CYFIP1 are associated with neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and schizophrenia. The protein also functions in immune cell migration and cancer cell invasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fragile X syndrome | CYFIP1 binds FMRP; loss of interaction disrupts translation regulation and actin dynamics | OMIM #300624; NCBI Gene |
| Autism spectrum disorder | Copy number variations (deletions/duplications) at 15q11.2 including CYFIP1 | ClinVar; PMID: 21572416 |
| Intellectual disability | Haploinsufficiency of CYFIP1 due to 15q11.2 microdeletion | ClinVar; OMIM #606322 |
| Schizophrenia | Rare CNVs at 15q11.2 increase risk | PMID: 20489179 |
| Epilepsy | 15q11.2 BP1-BP2 microdeletion associated with seizures | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Heart | 4.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neuronal studies |
| HEK293 (embryonic kidney) | 9.8 | Moderate expression |
| HeLa (cervical carcinoma) | 7.4 | Moderate expression |
| Jurkat (T-cell leukemia) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon; likely loss of function |
| c.100C>T (p.Arg34*) | nonsense | Rare | Premature stop; loss of function |
| c.500_501del (p.Glu167Valfs*12) | frameshift | Rare | Frameshift; loss of function |
| 15q11.2 deletion (BP1-BP2) | copy number loss | 0.5% in autism cohorts | Haploinsufficiency of CYFIP1 and other genes |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants that reduce CYFIP1 protein levels or disrupt its interaction with FMRP or the WAVE complex.
Gain of Function (GOF)
Not reported; no activating mutations described in literature or databases.
Dominant Negative (DN)
Not reported; no dominant-negative variants documented.
View complete mutation data：
Gene Ontology (GO)
| • actin filament polymerization | • regulation of translation |
| • synaptic signaling | • WAVE complex |
| • cytoplasm | • cell projection |
| • protein binding |
Pathways
• WAVE complex regulation of actin cytoskeleton (Reactome R-HSA-5663222)
• FMRP regulation of translation (Reactome R-HSA-9022699)
• Rac1 signaling (KEGG hsa04810)
Protein Summary
CYFIP1 is a 1253-amino-acid protein (UniProt Q7L576) that functions as a scaffold linking FMRP to the WAVE complex. It regulates actin polymerization by inhibiting WAVE activity until Rac1-GTP binding releases inhibition. CYFIP1 also mediates FMRP-dependent translational repression of specific mRNAs at synapses. The protein is widely expressed, with highest levels in brain and testis. Its structure includes a DUF3583 domain and multiple coiled-coil regions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
