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

Gene ID: 23191, updated on 4-Nov-2018

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; Vega:OTTHUMG00000129100
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:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (22867052..22980906, 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 golgin subfamily A member 6-like protein 2 Neighboring gene NIPA magnesium transporter 1 Neighboring gene NIPA magnesium transporter 2 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
    Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
  • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
    Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
  • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
    G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate WASPs and WAVEs, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate WASPs and WAVEs, organism-specific biosystemWASP and WAVE proteins belong to the Wiskott-Aldrich Syndrome protein family, with recessive mutations in the founding member WASP being responsible for the X-linked recessive immunodeficieny known a...
  • RNA transport, organism-specific biosystem (from KEGG)
    RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • RNA transport, conserved biosystem (from KEGG)
    RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
    Regulation of actin cytoskeleton, organism-specific biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
    Regulation of actin cytoskeleton, conserved biosystem
    Regulation of actin cytoskeleton
  • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
    Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • Signaling by VEGF, organism-specific biosystem (from REACTOME)
    Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
  • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
    VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...

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 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex binding IMP
Inferred from Mutant Phenotype
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
    5453..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, OTTHUMP00000276144, ENST00000617556.4
    Conserved Domains (1) summary
    pfam05994
    Location:115791
    FragX_IP; Cytoplasmic Fragile-X interacting family
  2. NM_001287810.3NP_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, OTTHUMP00000276145, 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_001324122.2NP_001311051.1  cytoplasmic FMR1-interacting protein 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC011767, AC090764, CB250660
  6. NM_001324123.2NP_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_001324124.2NP_001311053.1  cytoplasmic FMR1-interacting protein 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC011767, AC090764, CB250660
  8. NM_001324125.2NP_001311054.1  cytoplasmic FMR1-interacting protein 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC011767, AC090764, CB250660
  9. NM_001324126.2NP_001311055.1  cytoplasmic FMR1-interacting protein 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC011767, AC090764, CB250660
  10. NM_014608.5NP_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, OTTHUMP00000276143, ENST00000617928.4
    Conserved Domains (1) summary
    pfam05994
    Location:3891222
    FragX_IP; Cytoplasmic Fragile-X interacting family

RefSeqs of Annotated Genomes: Homo sapiens 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 GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    22867052..22980906 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543876.3XP_011542178.2  cytoplasmic FMR1-interacting protein 1 isoform X3

  2. XM_017022023.2XP_016877512.1  cytoplasmic FMR1-interacting protein 1 isoform X1

  3. XM_024449876.1XP_024305644.1  cytoplasmic FMR1-interacting protein 1 isoform X2

    Conserved Domains (1) summary
    pfam05994
    Location:3891355
    FragX_IP; Cytoplasmic Fragile-X interacting family
  4. XM_011543873.3XP_011542175.1  cytoplasmic FMR1-interacting protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011542175.1

    Conserved Domains (1) summary
    pfam05994
    Location:3891355
    FragX_IP; Cytoplasmic Fragile-X interacting family
  5. XM_011543874.2XP_011542176.1  cytoplasmic FMR1-interacting protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011542176.1

    Conserved Domains (1) summary
    pfam05994
    Location:3891355
    FragX_IP; Cytoplasmic Fragile-X interacting family
  6. XM_024449877.1XP_024305645.1  cytoplasmic FMR1-interacting protein 1 isoform X4

    Conserved Domains (1) summary
    pfam05994
    Location:3891222
    FragX_IP; Cytoplasmic Fragile-X interacting family
  7. XM_017022024.2XP_016877513.1  cytoplasmic FMR1-interacting protein 1 isoform X2

    Conserved Domains (1) summary
    pfam05994
    Location:3891355
    FragX_IP; Cytoplasmic Fragile-X interacting family

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187603.1 Reference GRCh38.p12 ALT_REF_LOCI_1

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