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    Cyfip1 cytoplasmic FMR1 interacting protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 20430, updated on 25-Nov-2021

    Summary

    Official Symbol
    Cyfip1provided by MGI
    Official Full Name
    cytoplasmic FMR1 interacting protein 1provided by MGI
    Primary source
    MGI:MGI:1338801
    See related
    Ensembl:ENSMUSG00000030447
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Shyc; Sra1; pl-1; Sra-1; l71Rl; l7Rl1; l(7)1Rl; P140sra1; P140SRA-1; mKIAA0068; E030028J09Rik
    Expression
    Ubiquitous expression in bladder adult (RPKM 10.5), limb E14.5 (RPKM 10.3) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cyfip1 in Genome Data Viewer
    Location:
    7; 7 B5
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (55491556..55582381)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (55842022..55932633)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (63097441..63188003)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene sialic acid binding Ig-like lectin H Neighboring gene tubulin, gamma complex associated protein 5 Neighboring gene peroxiredoxin 3 pseudogene Neighboring gene non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) Neighboring gene RIKEN cDNA A230056P14 gene Neighboring gene non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) Neighboring gene ribosomal protein S12-like 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    lethal, Chr 7, Russell 1
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (2) 
    • Targeted (3)  1 citation
    • Chemically induced (ENU) (2) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0068

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA 7-methylguanosine cap binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables RNA 7-methylguanosine cap binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables profilin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables translation regulator activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables translation regulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables translation regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables translation regulator activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Rac protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in axon extension ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell projection assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to insulin stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cognition ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in dendrite extension IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lamellipodium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within lamellipodium assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in modification of synaptic structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in modification of synaptic structure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of synaptic vesicle recycling ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Arp2/3 complex-mediated actin nucleation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of axon extension ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of axonogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of dendrite development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of lamellipodium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of neurotrophin TRK receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ruffle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of modification of postsynaptic actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of modification of postsynaptic actin cytoskeleton IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of myelination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of translation at postsynapse, modulating synaptic transmission EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in regulation of translation at postsynapse, modulating synaptic transmission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of translation at postsynapse, modulating synaptic transmission IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in regulation of translation at postsynapse, modulating synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of translation at postsynapse, modulating synaptic transmission IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in response to electrical stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of SCAR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of SCAR complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axonal growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in central region of growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendritic growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendritic spine ISO
    Inferred from Sequence Orthology
    more info
     
    located_in excitatory synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in filopodium tip ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of mRNA cap binding complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peripheral region of growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in postsynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in terminal bouton ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    cytoplasmic FMR1-interacting protein 1
    Names
    specifically Rac1-associated protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001164661.1NP_001158133.1  cytoplasmic FMR1-interacting protein 1 isoform a

      See identical proteins and their annotated locations for NP_001158133.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC102298, AC144633, AK028811, AK052509, AK152558, BB228046, CB527850
      Consensus CDS
      CCDS21315.1
      UniProtKB/Swiss-Prot
      Q7TMB8
      Related
      ENSMUSP00000127717.3, ENSMUST00000163845.4
      Conserved Domains (1) summary
      pfam05994
      Location:3891222
      FragX_IP; Cytoplasmic Fragile-X interacting family
    2. NM_001164662.1NP_001158134.1  cytoplasmic FMR1-interacting protein 1 isoform b

      See identical proteins and their annotated locations for NP_001158134.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, contains an alternate in-frame exon and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting protein (isoform b) is shorter than isoform a.
      Source sequence(s)
      AC102298, AC144633, AK052509, BB228046, BC052713, CB527850
      Consensus CDS
      CCDS52262.1
      UniProtKB/Swiss-Prot
      Q7TMB8
      UniProtKB/TrEMBL
      A0A0R4J119
      Related
      ENSMUSP00000082353.5, ENSMUST00000085255.11
      Conserved Domains (1) summary
      pfam05994
      Location:3891220
      FragX_IP; Cytoplasmic Fragile-X interacting family
    3. NM_011370.3NP_035500.2  cytoplasmic FMR1-interacting protein 1 isoform a

      See identical proteins and their annotated locations for NP_035500.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC102298, AC144633, AK028811, AK052509, AK146613, BB228046, CB527850
      Consensus CDS
      CCDS21315.1
      UniProtKB/Swiss-Prot
      Q7TMB8
      Related
      ENSMUSP00000032629.10, ENSMUST00000032629.16
      Conserved Domains (1) summary
      pfam05994
      Location:3891222
      FragX_IP; Cytoplasmic Fragile-X interacting family

    RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      55491556..55582381
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540729.2XP_006540792.1  cytoplasmic FMR1-interacting protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006540792.1

      UniProtKB/Swiss-Prot
      Q7TMB8
      Conserved Domains (1) summary
      pfam05994
      Location:3891222
      FragX_IP; Cytoplasmic Fragile-X interacting family
    2. XM_017322067.3XP_017177556.1  cytoplasmic FMR1-interacting protein 1 isoform X2

      Conserved Domains (1) summary
      pfam05994
      Location:1662
      FragX_IP; Cytoplasmic Fragile-X interacting family

    RNA

    1. XR_004934046.1 RNA Sequence

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