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CYFIP1 Gene

protein-coding   GIFtS: 66
GCID: GC15P023905

Cytoplasmic FMR1 Interacting Protein 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytoplasmic FMR1 Interacting Protein 11 2     SHYC2
Cytoplasmic FMRP Interacting Protein 11 2     SRA-12
Selective Hybridizing Clone1 2     SRA12
Specifically Rac1-Associated Protein 12 3     Cytoplasmic FMR1-Interacting Protein 12
KIAA00683 5     Sra-13
P140SRA-12     p140sra-13

External Ids:    HGNC: 137591   Entrez Gene: 231912   Ensembl: ENSG000000687937   OMIM: 6063225   UniProtKB: Q7L5763   

Export aliases for CYFIP1 gene to outside databases

Previous GC identifers: GC15P019172 GC15M015990 GC15P020311 GC15P020440 GC15P020444 GC15P023697 GC15P023717 GC15P001205 GC15P023748 GC15P023761 GC15P023780 GC15P023809 GC15P023843 GC15P023873


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CYFIP1 Gene:
CYFIP1 (cytoplasmic FMR1 interacting protein 1) is a protein-coding gene. Diseases associated with CYFIP1 include angelman syndrome, and fragile x syndrome. GO annotations related to this gene include actin filament binding and Rac GTPase binding. An important paralog of this gene is CYFIP2.

UniProtKB/Swiss-Prot: CYFP1_HUMAN, Q7L576
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 FMR1 in brain probably by mediating its association with EIF4E and mRNA (By
similarity). Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to
F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction
with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. Regulator of epithelial morphogenesis.
May act as an invasion suppressor in cancers

Gene Wiki entry for CYFIP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_078094.3  NC_018926.2  NT_187603.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYFIP1 gene promoter:
         NF-1/L   NF-1   AML1a   FOXO3   FOXO3a   STAT5A   E47   FOXO3b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYFIP1 promoter sequence
   Search Chromatin IP Primers for CYFIP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYFIP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q11   Ensembl cytogenetic band:  15q11.2   HGNC cytogenetic band: 15q11

CYFIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYFIP1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P023905:  view genomic region     (about GC identifiers)

Start:
22,892,005 bp from pter      End:
23,006,016 bp from pter
Size:
114,012 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CYFP1_HUMAN, Q7L576 (See protein sequence)
Recommended Name: Cytoplasmic FMR1-interacting protein 1  
Size: 1253 amino acids; 145182 Da
Subunit: Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within
the complex, a heterdimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and
BRK1. Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with FMR1
but does not bind to related proteins FXR1 or FXR2. Interaction with EIF4E stimulates FMR1 binding. Component of
the WAVE2 complex composed of ABI1, CYFIP1/SRA1, NCKAP1/NAP1 and WASF2/WAVE2. Interacts with the active GTP-bound
form of RAC1. Interacts through its C-terminus with the C-terminus of DPYSL2/CRMP2 which is necessary for
DPYSL2-induced axon outgrowth. Interacts with NYAP1, NYAP2 and MYO16
Miscellaneous: Breakpoint hotspot for the Prader-Willi/Angelman syndromes and may be implicated in autism.
Commonly altered in tumors
Sequence caution: Sequence=BAA07552.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for CYFIP1:
3P8C (3D)    
Secondary accessions: A8K6D9 Q14467 Q5IED0 Q6ZSX1 Q9BSD9 Q9BVC7
Alternative splicing: 3 isoforms:  Q7L576-1   Q7L576-2   Q7L576-3   

Explore the universe of human proteins at neXtProt for CYFIP1: NX_Q7L576

Explore proteomics data for CYFIP1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys97, Lys751, Lys1053, Lys1083, Lys1210
  • Modification sites at PhosphoSitePlus

  • See CYFIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001028200.1  NP_001274739.1  NP_055423.1  

    ENSEMBL proteins: 
     ENSP00000453046   ENSP00000324549   ENSP00000453233   ENSP00000454199   ENSP00000454091  
     ENSP00000453917   ENSP00000454045   ENSP00000405956   ENSP00000453060  

    CYFIP1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CYFIP1
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CYFIP1

    CYFIP1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CYFIP1
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    LSBio Antibodies in human, mouse, rat for CYFIP1

    CYFIP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CYFIP1
    Cloud-Clone Corp. CLIAs for CYFIP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR008081 Cytoplasmic_FMR1-int
     IPR016536 Cytoplasmic_FMR1-int_sub

    Graphical View of Domain Structure for InterPro Entry Q7L576

    ProtoNet protein and cluster: Q7L576

    1 Blocks protein domain: IPB008081 Cytoplasmic fragile X mental retardation protein interacting protein signature

    UniProtKB/Swiss-Prot: CYFP1_HUMAN, Q7L576
    Similarity: Belongs to the CYFIP family


    CYFIP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CYFP1_HUMAN, Q7L576
    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 FMR1 in brain probably by mediating its association with EIF4E and mRNA (By
    similarity). Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to
    F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction
    with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. Regulator of epithelial morphogenesis.
    May act as an invasion suppressor in cancers

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11438699
    GO:0032403protein complex binding IMP--
    GO:0048365Rac GTPase binding ISS--
    GO:0051015actin filament binding ISS--
         
    CYFIP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CYFIP1:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cyfip1):
     embryogenesis  mortality/aging  nervous system 

    CYFIP1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYFIP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYFIP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYFIP1

    miRNA
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    miRTarBase miRNAs that target CYFIP1:
    hsa-mir-155-5p (MIRT020537), hsa-mir-484 (MIRT042272), hsa-mir-193b-3p (MIRT041300), hsa-mir-185-5p (MIRT045329)

    Block miRNA regulation of human, mouse, rat CYFIP1 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate CYFIP1:
    hsa-miR-3163 hsa-miR-2114 hsa-miR-300 hsa-miR-381 hsa-miR-590-3p
    SwitchGear 3'UTR luciferase reporter plasmidCYFIP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CYFIP1
    Predesigned siRNA for gene silencing in human, mouse, rat CYFIP1

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CYFIP1 (NM_001033028)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYFIP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYFIP1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYFIP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CYFP1_HUMAN, Q7L576: Cytoplasm, perinuclear region (By similarity). Cell projection, lamellipodium (By
    similarity). Cell projection, ruffle (By similarity). Cell junction, synapse, synaptosome (By similarity).
    Note=Highly expressed in the perinuclear region. Enriched in synaptosomes, membrane ruffles and at the tips of
    lamellipodia (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    cytoskeleton1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle ISS--
    GO:0005737cytoplasm ----
    GO:0005845mRNA cap binding complex ISS--
    GO:0030027lamellipodium ISS--
    GO:0030054cell junction IEA--

    CYFIP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYFIP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Apoptotic Pathways in Synovial Fibroblasts
    Rac1 Pathway0.65
    2ERK Signaling
    Rho Family GTPases0.61
    3Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    4RNA transport
    RNA transport
    5BDNF signaling pathway
    BDNF signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CYFIP1
        Rac1 Pathway
    Rho Family GTPases

    1 BioSystems Pathway for CYFIP1
        BDNF signaling pathway


    2 Kegg Pathways  (Kegg details for CYFIP1):
        RNA transport
    Regulation of actin cytoskeleton


    CYFIP1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CYFIP1: 
              Cytoskeleton Regulators in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYFIP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CYFIP1 (Q7L5761, 2, 3 ENSP000003245494) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GAS7O608612, 3, ENSP000003226084MINT-72913 I2D: score=2 STRING: ENSP00000322608
    ABI1Q8IZP02, 3, ENSP000003653124MINT-45994 I2D: score=1 STRING: ENSP00000365312
    CSNK2BP678703I2D: score=1 
    ENSG00000206406P678703I2D: score=1 
    ENSG00000224398P678703I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008360regulation of cell shape IEA--
    GO:0016601Rac protein signal transduction IMP--
    GO:0030032lamellipodium assembly ISS--
    GO:0031529ruffle organization ISS--
    GO:0048675axon extension IMP16260607

    CYFIP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYFIP1 (CYFP1)

    1 HMDB Compound for CYFIP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CYFIP1 gene (3 alternative transcripts): 
    NM_001033028.1  NM_001287810.1  NM_014608.3  

    Unigene Cluster for CYFIP1:

    Cytoplasmic FMR1 interacting protein 1
    Hs.26704  [show with all ESTs]
    Unigene Representative Sequence: AK127094
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561185 ENST00000313077(uc001yus.3) ENST00000561274 ENST00000560848(uc001yut.3 uc010aya.1)
    ENST00000558430 ENST00000559393 ENST00000557859 ENST00000558549 ENST00000435939(uc001yuu.3)
    ENST00000558826 ENST00000561296 ENST00000561020(uc001yuv.3) ENST00000557890
    ENST00000561263
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCYFIP1 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 2): CYFIP1 (NM_001033028)
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      QuantiTect SYBR Green Assays in human, mouse, rat CYFIP1
      QuantiFast Probe-based Assays in human, mouse, rat CYFIP1

    Additional mRNA sequence: 

    AK024816.1 AK125784.1 AK125936.1 AK127094.1 AK291604.1 AL357618.1 AY763577.1 AY763578.1 
    AY763579.1 AY763580.1 BC001306.2 BC005097.1 BC063869.1 BC118566.1 BC118646.1 D38549.1 

    24 DOTS entries:

    DT.97813683  DT.417613  DT.91865366  DT.95120668  DT.100793753  DT.121069748  DT.100810327  DT.451960 
    DT.101984967  DT.101984966  DT.100793752  DT.100044762  DT.100834953  DT.121069777  DT.99970876  DT.121069792 
    DT.121069810  DT.40266447  DT.95120667  DT.95120669  DT.95120670  DT.75115206  DT.92439746  DT.97760020 

    Selected AceView cDNA sequences (see all 429):

    BM707512 BU786870 BM809040 BQ006326 BQ422605 BQ436771 BM755201 AK125936 
    CK725041 AA610026 BM473080 CA429246 BE857557 AA459675 BM673358 AA628028 
    AA935058 BQ425402 BU622161 AI222431 AA456560 AA234745 BU781742 BQ278194 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CYFIP1 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^
    SP1:              -           -                       -                                                                                         -     -     -   
    SP2:              -     -     -                       -                                                                                         -     -     -   
    SP3:                    -     -           -     -     -                                                                                         -     -     -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20a · 20b ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b
    SP1:  -           -           -                             -                                                     -                                             
    SP2:  -           -           -                             -                                                     -                                             
    SP3:  -           -           -                             -                                               -     -     -                                       
    SP4:              -           -                             -                                                     -                                             
    SP5:                                                                                                              -                                             


    ECgene alternative splicing isoforms for CYFIP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYFIP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTTCTCTC
    CYFIP1 Expression
    About this image


    CYFIP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Head Mesenchyme (Muscoskeletal System)
             Head Mesenchyme
    CYFIP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYFIP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.26704
        Pathway & Disease-focused RT2 Profiler PCR Array including CYFIP1: 
              Cytoskeleton Regulators in human mouse rat

    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CYFIP1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyfip11 , 5 cytoplasmic FMR1 interacting protein 11, 5 90.21(n)1
    99.04(a)1
      7 (33.42 cM)5
    204301  NM_011370.31  NP_035500.21 
     558417455 
    chicken
    (Gallus gallus)
    Aves CYFIP11 cytoplasmic FMR1 interacting protein 1 82.07(n)
    97.29(a)
      418677  XM_003640523.2  XP_003640571.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYFIP16
    cytoplasmic FMR1 interacting protein 1
    90(a)
    1 ↔ 1
    3(111762059-111821064)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.155682 Transcribed sequence with moderate similarity to protein pirT47145 (H.sapiens) T47145 hypothetical protein DKFZp761H087.1 - human (fragment) less 77.86(n)    BX728347.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.11642 Danio rerio Cyfip mRNA, complete cds 80.02(n)    AY017342.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sra-13 Rho interactor 65(a)   88F1   --
    worm
    (Caenorhabditis elegans)
    Secernentea gex-21 gex-2 55.89(n)
    52.29(a)
      176885  NM_067548.4  NP_499949.2 


    ENSEMBL Gene Tree for CYFIP1 (if available)
    TreeFam Gene Tree for CYFIP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYFIP1 gene
    CYFIP22  
    2 SIMAP similar genes for CYFIP1 using alignment to 7 protein entries:     CYFP1_HUMAN (see all proteins):
    CYFIP2    DKFZp761H087

    CYFIP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYFIP1 (see all 3027)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1379722431,2
    --22890829(+) TAGGCA/GTGTGC 1 -- us2k10--------
    rs71679341,2
    C,F,A--22890842(+) ccacaG/Cccagc 1 -- us2k14Minor allele frequency- C:0.50NA WA 8
    rs560767681,2
    C,F--22890980(+) TGCCCG/AGCCAA 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1459305091,2
    --22891078(+) TAAACA/GGATTA 1 -- us2k10--------
    rs129077561,2
    C,F--22891203(+) tcaagT/Catatt 1 -- us2k18Minor allele frequency- C:0.23NA WA CSA 13
    rs1502973531,2
    C--22891213(+) TTTTG-/TATTC 
            
    TATTT
    1 -- us2k10--------
    rs788680071,2
    C--22891261(+) TTTTAT/CTAATT 1 -- us2k13Minor allele frequency- C:0.19WA CSA 122
    rs2004015741,2
    C--22891369(+) CACTT-/CCTGGG 1 -- us2k10--------
    rs1882231901,2
    --22891439(+) ATGCCC/GGACTA 1 -- us2k10--------
    rs129159771,2
    C,F--22891466(+) TAGAGG/ACGGGG 1 -- us2k14Minor allele frequency- A:0.38NA WA CSA 8

    HapMap Linkage Disequilibrium report for CYFIP1 (22892005 - 23006016 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CYFIP1 (see all 60):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749402CNV Deletion23290073
    esv2749405CNV Deletion23290073
    nsv471376CNV Deletion19718026
    dgv8n31CNV Deletion19718026
    esv2749404CNV Deletion23290073
    dgv9n31CNV Deletion19718026
    esv2749406CNV Deletion23290073
    esv2749403CNV Deletion23290073
    nsv94774CNV Insertion16902084
    dgv44n16CNV Insertion17901297

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing CYFIP1:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing CYFIP1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYFIP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606322    OMIM disorders: --

    8 diseases for CYFIP1:    
    About MalaCards
    angelman syndrome    fragile x syndrome    autistic disorder    prader-willi syndrome
    intellectual disability    mental retardation    schizophrenia    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for CYFIP1:
    Autistic disorder     Angelman syndrome     Prader-Willi syndrome     Intellectual disability

    CYFIP1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for CYFIP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fragile x syndrome 72.4 1 18805096 (1)
    mental retardation 68.1 2 20298200 (1)

    Genetic Association Database (GAD): CYFIP1
    Human Genome Epidemiology (HuGE) Navigator: CYFIP1 (1 document)

    Export disorders for CYFIP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYFIP1 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with CYFIP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. (PubMed id 11438699)1, 3, 9 Schenck A....Mandel J.L. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    2. Cyfip1 is a putative invasion suppressor in epithelial cancers. (PubMed id 19524508)1, 2 Silva J.M.... Hannon G.J. (Cell 2009)
    3. CRMP-2 is involved in kinesin-1-dependent transport of the Sra- 1/WAVE1 complex and axon formation. (PubMed id 16260607)1, 2 Kawano Y.... Kaibuchi K. (Mol. Cell. Biol. 2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. p140Sra-1 (specifically Rac1-associated protein) is a novel specific target for Rac1 small GTPase. (PubMed id 9417078)1, 2 Kobayashi K.... Kaibuchi K. (J. Biol. Chem. 1998)
    7. Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7584044)1, 2 Nomura N.... Tabata S. (DNA Res. 1994)
    8. The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. (PubMed id 18805096)1, 9 Napoli I....Bagni C. (Cell 2008)
    9. Confirmed rare copy number variants implicate novel genes in schizophrenia. (PubMed id 20298200)1, 9 Tam G.W....Grant S.G. (Biochem. Soc. Trans. 2010)
    10. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. (PubMed id 17519220)1, 9 Nishimura Y....Geschwind D.H. (Hum. Mol. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23191 HGNC: 13759 AceView: CYFIP1 Ensembl:ENSG00000068793 euGenes: HUgn23191
    ECgene: CYFIP1 Kegg: 23191 H-InvDB: CYFIP1

    (According to HUGE)
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    HUGE: KIAA0068

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CYFIP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CYFIP1 gene:
    Search GeneIP for patents involving CYFIP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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