CYFIP1

Cytoplasmic FMR1-interacting protein 1 is a protein that in humans is encoded by the CYFIP1 gene.^[5][6]

CYFIP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3P8C, 4N78
Identifiers
Aliases	CYFIP1, P140SRA-1, SHYC, SRA-1, SRA1, cytoplasmic FMR1 interacting protein 1
External IDs	OMIM: 606322; MGI: 1338801; HomoloGene: 22628; GeneCards: CYFIP1; OMA:CYFIP1 - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q11.2 Start 22,867,052 bp[1] End 22,981,063 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 B5 Start 55,491,493 bp[2] End 55,582,350 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium gingival epithelium parietal pleura visceral pleura oral cavity tibia palpebral conjunctiva skin of hip mucosa of sigmoid colon skin of thigh Top expressed in saccule otic placode sciatic nerve otic vesicle Ileal epithelium dermis stroma of bone marrow endothelial cell of lymphatic vessel skin of external ear gastrula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding protein-containing complex binding actin filament binding protein binding RNA 7-methylguanosine cap binding translation regulator activity Cellular component extracellular exosome cytoplasm synapse cell projection cell junction cytosol SCAR complex focal adhesion lamellipodium perinuclear region of cytoplasm ruffle mRNA cap binding complex neuron projection extracellular region filopodium tip secretory granule lumen specific granule lumen soma terminal bouton dendritic spine dendritic growth cone axonal growth cone excitatory synapse central region of growth cone peripheral region of growth cone tertiary granule lumen postsynapse Biological process Rac protein signal transduction cognition Fc-gamma receptor signaling pathway involved in phagocytosis multicellular organism development ruffle organization axon extension vascular endothelial growth factor receptor signaling pathway nervous system development regulation of cell shape cell differentiation positive regulation of Arp2/3 complex-mediated actin nucleation lamellipodium assembly cellular response to insulin stimulus neutrophil degranulation positive regulation of axon extension positive regulation of axonogenesis response to electrical stimulus positive regulation of dendrite development positive regulation of ruffle assembly negative regulation of synaptic vesicle recycling neuron projection development positive regulation of neurotrophin TRK receptor signaling pathway dendrite extension regulation of translation modification of synaptic structure cell morphogenesis axon guidance cell projection assembly regulation of translation at postsynapse, modulating synaptic transmission regulation of modification of postsynaptic actin cytoskeleton Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23191 20430 Ensembl ENSG00000280618 ENSG00000273749 ENSG00000288461 ENSMUSG00000030447 UniProt Q7L576 Q7TMB8 RefSeq (mRNA) NM_001033028 NM_001287810 NM_014608 NM_001324119 NM_001324120 NM_001324122 NM_001324123 NM_001324124 NM_001324125 NM_001324126 NM_001164661 NM_001164662 NM_011370 RefSeq (protein) NP_001028200 NP_001274739 NP_001311048 NP_001311049 NP_001311051 NP_001311052 NP_001311053 NP_001311054 NP_001311055 NP_055423 NP_001158133 NP_001158134 NP_035500 Location (UCSC) Chr 15: 22.87 – 22.98 Mb Chr 7: 55.49 – 55.58 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Interactions

CYFIP1 has been shown to interact with FMR1,^[5] to the exclusion of FXR1 and FXR2.^[5] It also forms part of the WAVE regulatory complex (WRC),^[7] and based on the crystal structure of the WRC it is believed CYFIP1 provides the binding site for the complex to Rac1.^[8]

Medical research applications

The CYFIP1 gene with haploinsufficiency may provide a model for the associated neuropsychiatric and neurological phenotypes of disorders such as autism and schizophrenia.^[9] With autism, a potential molecular link was identified between FMR1-FM and the genetic disorder dup(15q), in terms of the cytoplasmic FMR1 interacting protein 1 (CYFIP1) up regulated in those with the disorder.^[10]