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    CYFIP1 cytoplasmic FMR1 interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 23191, updated on 13-Dec-2020

    Summary

    Official Symbol
    CYFIP1provided by HGNC
    Official Full Name
    cytoplasmic FMR1 interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:13759
    See related
    Ensembl:ENSG00000273749 MIM:606322
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SHYC; SRA1; SRA-1; P140SRA-1
    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 retardation protein (FMRP) and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, May 2017]
    Expression
    Ubiquitous expression in placenta (RPKM 24.8), esophagus (RPKM 20.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See CYFIP1 in Genome Data Viewer
    Location:
    15q11.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    109.20201120 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (22867052..22980898, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (22892667..23003603)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC283683 Neighboring gene Sharpr-MPRA regulatory region 3977 Neighboring gene golgin subfamily A member 6-like protein 2 Neighboring gene NIPA magnesium transporter 1 Neighboring gene NIPA magnesium transporter 2 Neighboring gene Sharpr-MPRA regulatory region 8478 Neighboring gene tubulin gamma complex associated protein 5 Neighboring gene engulfment and cell motility 2 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ45151

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA 7-methylguanosine cap binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to small GTPase binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    translation regulator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Fc-gamma receptor signaling pathway involved in phagocytosis TAS
    Traceable Author Statement
    more info
     
    Rac protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    axon extension IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell projection assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dendrite extension IEA
    Inferred from Electronic Annotation
    more info
     
    lamellipodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lamellipodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    modification of synaptic structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of synaptic vesicle recycling IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of Arp2/3 complex-mediated actin nucleation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of axon extension IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of dendrite development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of lamellipodium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neurotrophin TRK receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ruffle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of modification of postsynaptic actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of translation at postsynapse, modulating synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    ruffle organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vascular endothelial growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    SCAR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SCAR complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    axonal growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    central region of growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendritic growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    excitatory synapse IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    filopodium tip IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion HDA PubMed 
    lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mRNA cap binding complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peripheral region of growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    terminal bouton IEA
    Inferred from Electronic Annotation
    more info
     
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    cytoplasmic FMR1-interacting protein 1
    Names
    cytoplasmic FMRP interacting protein 1
    selective hybridizing clone
    specifically Rac1-associated protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_054889.1 RefSeqGene

      Range
      5539..118855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033028.3NP_001028200.1  cytoplasmic FMR1-interacting protein 1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC011767, AK024816, AY763579, BC005097, CB250660
      Consensus CDS
      CCDS73695.1
      UniProtKB/Swiss-Prot
      Q7L576
      Related
      ENSP00000480525.1, ENST00000617556.4
      Conserved Domains (1) summary
      pfam05994
      Location:115791
      FragX_IP; Cytoplasmic Fragile-X interacting family
    2. NM_001287810.4NP_001274739.1  cytoplasmic FMR1-interacting protein 1 isoform a

      See identical proteins and their annotated locations for NP_001274739.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variants 1, 3, and 4, encodes isoform a.
      Source sequence(s)
      AC011767, AC090764, CB250660
      Consensus CDS
      CCDS73696.1
      UniProtKB/Swiss-Prot
      Q7L576
      Related
      ENSP00000478779.1, ENST00000610365.4
      Conserved Domains (1) summary
      pfam05994
      Location:3891222
      FragX_IP; Cytoplasmic Fragile-X interacting family
    3. NM_001324119.2NP_001311048.1  cytoplasmic FMR1-interacting protein 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) encodes the longest isoform (c).
      Source sequence(s)
      AC011767, AC090764, CB250660
    4. NM_001324120.2NP_001311049.1  cytoplasmic FMR1-interacting protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 2, and 4, encodes isoform a.
      Source sequence(s)
      AC011767, AC090764, CB250660
      Consensus CDS
      CCDS73696.1
      UniProtKB/Swiss-Prot
      Q7L576
      Conserved Domains (1) summary
      pfam05994
      Location:3891222
      FragX_IP; Cytoplasmic Fragile-X interacting family
    5. NM_001324122.3NP_001311051.1  cytoplasmic FMR1-interacting protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660
    6. NM_001324123.3NP_001311052.1  cytoplasmic FMR1-interacting protein 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 1-3, encodes isoform a.
      Source sequence(s)
      AC011767, AC090764, CB250660
      Consensus CDS
      CCDS73696.1
      UniProtKB/Swiss-Prot
      Q7L576
      Conserved Domains (1) summary
      pfam05994
      Location:3891222
      FragX_IP; Cytoplasmic Fragile-X interacting family
    7. NM_001324124.3NP_001311053.1  cytoplasmic FMR1-interacting protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660
    8. NM_001324125.3NP_001311054.1  cytoplasmic FMR1-interacting protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660
    9. NM_001324126.3NP_001311055.1  cytoplasmic FMR1-interacting protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660
    10. NM_014608.6NP_055423.1  cytoplasmic FMR1-interacting protein 1 isoform a

      See identical proteins and their annotated locations for NP_055423.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), as well as variants 2-4, encodes isoform a.
      Source sequence(s)
      AC011767, AC090764, CB250660
      Consensus CDS
      CCDS73696.1
      UniProtKB/Swiss-Prot
      Q7L576
      Related
      ENSP00000481038.1, ENST00000617928.5
      Conserved Domains (1) summary
      pfam05994
      Location:3891222
      FragX_IP; Cytoplasmic Fragile-X interacting family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      22867052..22980898 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_021160017.1 Reference GRCh38.p13 PATCHES

      Range
      3761127..3874986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187603.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      744..77893 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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