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

Gene ID: 23191, updated on 26-Jul-2021

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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (22867052..22980898, complement)
105.20201022 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 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
enables RNA 7-methylguanosine cap binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 regulator activity IEA
Inferred from Electronic Annotation
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
PubMed 
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 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
PubMed 
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
PubMed 
involved_in negative regulation of synaptic vesicle recycling 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 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
PubMed 
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
PubMed 
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
 
part_of mRNA cap binding complex ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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

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 109.20210514

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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