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

    Gene ID: 23191, updated on 9-Dec-2018

    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

    Genomic context

    See CYFIP1 in Genome Data Viewer
    Location:
    15q11.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (22867052..22980906, 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 golgin subfamily A member 6-like protein 2 Neighboring gene NIPA magnesium transporter 1 Neighboring gene NIPA magnesium transporter 2 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
      Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
    • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
      Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
    • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
      RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
    • RHO GTPases Activate WASPs and WAVEs, organism-specific biosystem (from REACTOME)
      RHO GTPases Activate WASPs and WAVEs, organism-specific biosystemWASP and WAVE proteins belong to the Wiskott-Aldrich Syndrome protein family, with recessive mutations in the founding member WASP being responsible for the X-linked recessive immunodeficieny known a...
    • RNA transport, organism-specific biosystem (from KEGG)
      RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RNA transport, conserved biosystem (from KEGG)
      RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
      Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
    • Signaling by VEGF, organism-specific biosystem (from REACTOME)
      Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
      VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...

    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 
    contributes_to Rac GTPase binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Rac GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin filament binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 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 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)

    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
      5453..118855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033028.2NP_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_001287810.3NP_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_001324122.2NP_001311051.1  cytoplasmic FMR1-interacting protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660
    6. NM_001324123.2NP_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_001324124.2NP_001311053.1  cytoplasmic FMR1-interacting protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660
    8. NM_001324125.2NP_001311054.1  cytoplasmic FMR1-interacting protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660
    9. NM_001324126.2NP_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, ENST00000617928.4
      Conserved Domains (1) summary
      pfam05994
      Location:3891222
      FragX_IP; Cytoplasmic Fragile-X interacting family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      22867052..22980906 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543876.3XP_011542178.2  cytoplasmic FMR1-interacting protein 1 isoform X3

    2. XM_017022023.2XP_016877512.1  cytoplasmic FMR1-interacting protein 1 isoform X1

    3. XM_024449876.1XP_024305644.1  cytoplasmic FMR1-interacting protein 1 isoform X2

      Conserved Domains (1) summary
      pfam05994
      Location:3891355
      FragX_IP; Cytoplasmic Fragile-X interacting family
    4. XM_011543873.3XP_011542175.1  cytoplasmic FMR1-interacting protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011542175.1

      Conserved Domains (1) summary
      pfam05994
      Location:3891355
      FragX_IP; Cytoplasmic Fragile-X interacting family
    5. XM_011543874.2XP_011542176.1  cytoplasmic FMR1-interacting protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011542176.1

      Conserved Domains (1) summary
      pfam05994
      Location:3891355
      FragX_IP; Cytoplasmic Fragile-X interacting family
    6. XM_024449877.1XP_024305645.1  cytoplasmic FMR1-interacting protein 1 isoform X4

      Conserved Domains (1) summary
      pfam05994
      Location:3891222
      FragX_IP; Cytoplasmic Fragile-X interacting family
    7. XM_017022024.2XP_016877513.1  cytoplasmic FMR1-interacting protein 1 isoform X2

      Conserved Domains (1) summary
      pfam05994
      Location:3891355
      FragX_IP; Cytoplasmic Fragile-X interacting family

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NT_187603.1 Reference GRCh38.p12 ALT_REF_LOCI_1

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