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

Gene ID: 23191, updated on 21-Jun-2020

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:
34
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (22867052..22980898, 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 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
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
    5539..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_001287810.4NP_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.

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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