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

    Gene ID: 23191, updated on 11-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:13759
    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 synaptic functional regulator FMR1 protein 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, Mar 2022]
    Expression
    Ubiquitous expression in placenta (RPKM 24.8), esophagus (RPKM 20.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYFIP1 in Genome Data Viewer
    Location:
    15q11.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (22867052..22980898, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (20538904..20652761, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (22892170..23006016)

    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 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:23086519-23086752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:23080143-23080643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9155 Neighboring gene NIPA magnesium transporter 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:23045427-23046179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9158 Neighboring gene NIPA magnesium transporter 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:22999149-22999824 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:22990202-22991401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:22981163-22981662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:22980661-22981162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:22925256-22925940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:22905531-22906030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:22896003-22896502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:22895501-22896002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:22893404-22894371 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:22892435-22893403 Neighboring gene tubulin gamma complex component 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:22859095-22860005 Neighboring gene NANOG hESC enhancer GRCh37_chr15:22803142-22803643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:22798435-22798945 Neighboring gene engulfment and cell motility 2 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes. Fricano-Kugler C, et al. Mol Autism, 2019. PMID 31198525, Free PMC Article
    2. Low expression of Cyfip1 may be a potential biomarker in nasopharyngeal carcinoma. Shi X, et al. Neoplasma, 2018. PMID 29534591
    3. CYFIP1 is directly controlled by NOTCH1 and down-regulated in cutaneous squamous cell carcinoma. Dziunycz PJ, et al. PLoS One, 2017. PMID 28410392, Free PMC Article
    4. Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay. Chen CP, et al. Taiwan J Obstet Gynecol, 2017 Feb. PMID 28254235
    5. A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus. Woo YJ, et al. PLoS One, 2016. PMID 27351196, Free PMC Article

    See all (136) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of Function in the Neurodevelopmental Disease and Schizophrenia-Associated Gene CYFIP1 in Human Microglia-like Cells Supports a Functional Role in Synaptic Engulfment.
      Title: Loss of Function in the Neurodevelopmental Disease and Schizophrenia-Associated Gene CYFIP1 in Human Microglia-like Cells Supports a Functional Role in Synaptic Engulfment.
    2. Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.
      Title: Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.
    3. Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia.
      Title: Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia.
    4. Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders.
      Title: Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders.
    5. Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms.
      Title: Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms.
    6. Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders.
      Title: Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders.
    7. The human studies revealed profound deficits in grammatical reasoning, arithmetic reasoning, and working memory in BP1-BP2 (TUBGCP5, CYFIP1, NIPA2, and NIPA1) deletion carriers.
      Title: Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage.
    8. this research identifies the behavioral and molecular consequences of CYFIP1 overexpression.
      Title: CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes.
    9. Surprisingly, Rac1 is not located at the binding site on the Sra1 subunit of the WAVE regulatory complex previously identified by mutagenesis and biochemical data. Rather, it binds to a distinct, conserved site on the opposite end of Sra1.
      Title: Rac1 GTPase activates the WAVE regulatory complex through two distinct binding sites.
    10. The current study provides further supports for contribution of CYFIP1/2 in the pathogenesis of autism spectrum disorder (ASD) and potentiates it as a peripheral marker for ASD diagnosis.
      Title: Cytoplasmic FMRP interacting protein 1/2 (CYFIP1/2) expression analysis in autism.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ45151

    Gene Ontology Provided by GOA

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

    General protein information

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    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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    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.

    Genomic

    1. NG_054889.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001033028.3 → NP_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:115 → 791
      FragX_IP; Cytoplasmic Fragile-X interacting family

    2. NM_001287810.4 → NP_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
      A8K6D9, Q14467, Q5IED0, Q6ZSX1, Q7L576, Q9BSD9, Q9BVC7
      UniProtKB/TrEMBL
      X5D2F4
      Related
      ENSP00000478779.1, ENST00000610365.4
      Conserved Domains (1) summary
      pfam05994
      Location:389 → 1222
      FragX_IP; Cytoplasmic Fragile-X interacting family

    3. NM_001324119.2 → NP_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
      UniProtKB/TrEMBL
      X5D2F4

    4. NM_001324120.2 → NP_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
      A8K6D9, Q14467, Q5IED0, Q6ZSX1, Q7L576, Q9BSD9, Q9BVC7
      UniProtKB/TrEMBL
      X5D2F4
      Conserved Domains (1) summary
      pfam05994
      Location:389 → 1222
      FragX_IP; Cytoplasmic Fragile-X interacting family

    5. NM_001324122.3 → NP_001311051.1  cytoplasmic FMR1-interacting protein 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660

    6. NM_001324123.3 → NP_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
      A8K6D9, Q14467, Q5IED0, Q6ZSX1, Q7L576, Q9BSD9, Q9BVC7
      UniProtKB/TrEMBL
      X5D2F4
      Conserved Domains (1) summary
      pfam05994
      Location:389 → 1222
      FragX_IP; Cytoplasmic Fragile-X interacting family

    7. NM_001324124.3 → NP_001311053.1  cytoplasmic FMR1-interacting protein 1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660
      UniProtKB/TrEMBL
      X5D2F4

    8. NM_001324125.3 → NP_001311054.1  cytoplasmic FMR1-interacting protein 1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660
      UniProtKB/TrEMBL
      X5D2F4

    9. NM_001324126.3 → NP_001311055.1  cytoplasmic FMR1-interacting protein 1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC011767, AC090764, CB250660
      UniProtKB/TrEMBL
      X5D2F4

    10. NM_014608.6 → NP_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
      A8K6D9, Q14467, Q5IED0, Q6ZSX1, Q7L576, Q9BSD9, Q9BVC7
      UniProtKB/TrEMBL
      X5D2F4
      Related
      ENSP00000481038.1, ENST00000617928.5
      Conserved Domains (1) summary
      pfam05994
      Location:389 → 1222
      FragX_IP; Cytoplasmic Fragile-X interacting family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160017.1 Reference GRCh38.p14 PATCHES

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

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187603.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      20538904..20652761 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L576.1 GenPept UniProtKB/Swiss-Prot:Q7L576

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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