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FLASH GENE
Symbol CYFIP1 contributors: mct/pgu - updated : 16-10-2012
HGNC name cytoplasmic FMR1 interacting protein 1
HGNC id 13759
Corresponding disease
AS Angelman syndrome
Location 15q11.2      Physical location : 22.892.683 - 23.003.602
Synonym name
  • cytoplasmic FMRP interacting protein 1
  • selective hybridizing clone
  • specifically Rac1-associated protein 1
    • Synonym symbol(s) KIAA0068, P140SRA1, SHYC, SRA1, FLJ45151
    DNA
    TYPE functioning gene
    STRUCTURE 110.92 kb     31 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC388070 15 hypothetical gene supported by NM_002577 LOC390537 15 similar to CDC42-binding protein kinase alpha isoform A; ser-thr protein kinase related to the myotonic dystrophy protein kinase; ser-thr protein kinase PK428; myotonic dystrophy kinase-related CDC42-binding protein kinase alpha; CD LOC388071 15 hypothetical gene supported by AL834140; NM_001338 LOC339010 15q11.2 similar to pote protein; Expressed in prostate, ovary, testis, and placenta LOC283804 15q11.2 similar to testicular Metalloprotease-like, Disintegrin-like, Cysteine-rich protein IVb LOC388072 15 similar to breast cancer anti-estrogen resistance 1; Crk-associated substrate p130Cas; Crk-associated substrate LOC388073 15 hypothetical gene supported by AK056084; NM_152518 LOC388074 15 similar to Ribosome biogenesis protein BMS1 homolog LOC388075 15 similar to Ribosome biogenesis protein BMS1 homolog OR4H6P 15p12 olfactory receptor, family 4, subfamily H, member 6 pseudogene LOC390538 15 similar to Olfactory receptor 4M2 LOC390539 15 similar to seven transmembrane helix receptor LOC388076 15 similar to 40S ribosomal protein S8 LOC388077 15 similar to immunoglobulin heavy chain variable region LOC390540 15 similar to salivary proline-rich protein LOC388078 15 similar to FLJ27099 protein LOC388079 15 similar to ZCCHC2 protein LOC390541 15 similar to arginine-glutamic acid dipeptide (RE) repeats; atrophin 1-like; arginine glutamic acid dipeptide RE repeats LOC390542 15 similar to CDNA sequence BC005632 LOC390543 15 similar to ATP-binding cassette, sub-family B, member 10, mitochondrial precursor (ATP-binding cassette transporter 10) (ABC transporter 10 protein) (Mitochondrial ATP-binding cassette 2) (M-ABC2) LOC388080 15 similar to hypothetical protein LOC283767 15q11.2 hypothetical gene supported by AK093450 LOC390544 15 similar to engulfment and cell motility 2; ced-12 homolog 2; PH domain protein CED12A TUBGCP5 15q11.1 tubulin, gamma complex associated protein 5 CYFIP1 15q11 cytoplasmic FMR1 interacting protein 1 NIPA2 15q11.2 non-imprinted in Prader-Willi/Angelman syndrome 2 SPG6 15q11-q13 spastic paraplegia 6 (autosomal dominant) LOC339003 15q11.2 similar to HP95 LOC388081 15 LOC388081 LOC339005 15q11.2 hypothetical protein LOC339005 FLJ35785 15q11.2 hypothetical protein FLJ35785 LOC388082 15 hypothetical gene supported by AB002391 LOC390545 15 similar to hypothetical protein FLJ36144 LOC390546 15 similar to golgin-67 isoform c LOC388083 15 similar to hypothetical protein FLJ31951 LOC390547 15 similar to neuronal nonacetlycholine binding subunit LOC390548 15 similar to hypothetical protein FLJ36144 LOC388084 15 similar to FLJ40113 protein LOC388085 15 similar to Golgi autoantigen, golgin subfamily a, 2; golgin-95; Golgi matrix protein GM130; SY11 protein LOC390549 15 similar to hect domain and RLD 2 FLJ36144 15q11.2 hypothetical protein FLJ36144 MKRN3 15q11-q12 makorin, ring finger protein, 3 MAGEL2 15q11.2-q12 MAGE-like 2 NDN 15q11.2-q12 necdin homolog (mouse)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 splicing 4446 145 1253 - 2006 16982806
    isoform a
    16 splicing 3351 94 822 - 2006 16982806
    isoform b
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     intestinesmall intestine  predominantly
     mouthtongue  highly
     pancreas exocrine   highly
    Nervousbrain   highly
    Reproductivefemale systembreastmammary gland highly
     male systemtestis  highly
    Skin/Tegumentskin   highly
    Urinarykidney   highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Cyfip1
    ortholog to rattus Cyfip1 predicted
    intraspecies homolog to CYFIP2 (PIR121)
    Homologene
    FAMILY
  • CYFIP family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    text dendritic fine structure colocalizing with FMR1 and RAL1
    basic FUNCTION
  • involved in development and maintenance of dendritic spines and neuronal plasticity
  • FMR1-interacting factor, as coregulator of FMR1
  • playing a role in autism
  • may be an invasion supressor gene
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text neuronal structures
    PATHWAY
    metabolism
    signaling
    a component
  • component of the WAVE complex involved in actin polymerization
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FMR1
  • RAC1
  • EIF4E-binding protein (interaction between FMR1/CYFIP1 and eIF4E is increased and possibly stabilized by the presence of target mRNAs)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
        deletion    
    located between BP1 and BP2 in the WPS/AS critical region
    tumoral   deletion    
    commonly deleted in epithelial cancers
    tumoral     --low  
    reduced expression of CYFIP1 is associated with poor prognosis in invasive epithelial tumors
    constitutional   deletion    
    in congenital heart disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene absence of vocalization in AS
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • haploinsufficiency of Cyfip1 mimics key aspects of the phenotype of Fmr1 knockout mice and are consistent with the hypothesis that these effects are mediated by interaction of Cyfip1 and Fmrp in regulating activity-dependent translation