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

Gene ID: 20430, updated on 8-Dec-2022

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 AllianceGenome:MGI:1338801
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
Summary
Enables translation regulator activity. Involved in several processes, including dendrite extension; positive regulation of neurotrophin TRK receptor signaling pathway; and regulation of modification of postsynaptic actin cytoskeleton. Acts upstream of or within lamellipodium assembly. Located in several cellular components, including lamellipodium; perinuclear region of cytoplasm; and postsynapse. Part of mRNA cap binding activity complex. Is expressed in several structures, including embryo mesenchyme; lung; nervous system; skeletal muscle; and tooth. Human ortholog(s) of this gene implicated in autism spectrum disorder and schizophrenia. Orthologous to human CYFIP1 (cytoplasmic FMR1 interacting protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 10.5), limb E14.5 (RPKM 10.3) and 28 other tissues See more
Orthologs
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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)

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) 
  • Endonuclease-mediated (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 IEP
Inferred from Expression Pattern
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 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 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)

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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.

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, Q99LY1
    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, Q99LY1
    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, Q99LY1
    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