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Aliases for CYFIP1 Gene

Aliases for CYFIP1 Gene

  • Cytoplasmic FMR1 Interacting Protein 1 2 3 5
  • Cytoplasmic FMRP Interacting Protein 1 2 3
  • Specifically Rac1-Associated Protein 1 3 4
  • Selective Hybridizing Clone 2 3
  • P140SRA-1 3 4
  • SRA-1 3 4
  • Cytoplasmic FMR1-Interacting Protein 1 3
  • KIAA0068 4
  • SRA1 3
  • SHYC 3

External Ids for CYFIP1 Gene

Previous GeneCards Identifiers for CYFIP1 Gene

  • GC15P019172
  • GC15M015990
  • GC15P020311
  • GC15P020440
  • GC15P020444
  • GC15P023697
  • GC15P023717
  • GC15P001205
  • GC15P023748
  • GC15P023761
  • GC15P023780
  • GC15P023809
  • GC15P023843
  • GC15P023873
  • GC15P023905

Summaries for CYFIP1 Gene

Entrez Gene Summary for CYFIP1 Gene

  • 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]

GeneCards Summary for CYFIP1 Gene

CYFIP1 (Cytoplasmic FMR1 Interacting Protein 1) is a Protein Coding gene. Diseases associated with CYFIP1 include Fragile X Syndrome and Schizophrenia. Among its related pathways are Innate Immune System and RET signaling. GO annotations related to this gene include protein complex binding and Rac GTPase binding. An important paralog of this gene is CYFIP2.

UniProtKB/Swiss-Prot for CYFIP1 Gene

  • Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA (By similarity). Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. Regulator of epithelial morphogenesis. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). May act as an invasion suppressor in cancers.

Gene Wiki entry for CYFIP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYFIP1 Gene

Genomics for CYFIP1 Gene

Regulatory Elements for CYFIP1 Gene

Enhancers for CYFIP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G022949 1.4 Ensembl ENCODE dbSUPER 22 +31.3 31334 2.4 HDAC1 ATF1 SIN3A TCF12 GLIS2 EGR1 EGR2 SP3 REST NR2F2 CYFIP1 PIR53215 PIR44215
GH15G022785 1 ENCODE 15.7 +194.4 194397 2.4 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 MXD4 REST CYFIP1 NIPA2 LOC283683 NIPA1 LOC729900 PIR54317
GH15G022837 1.1 ENCODE 10.8 +141.7 141665 3.8 HDGF CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 NIPA2 CYFIP1 HERC2P7 PIR62888
GH15G022948 0.5 Ensembl 21.9 +32.9 32863 0.4 SCRT1 SMARCA4 ZNF341 CYFIP1 PIR53215 PIR44215
GH15G022951 1.1 Ensembl ENCODE dbSUPER 8.4 +29.4 29409 1.3 ZFP64 ZNF426 ZNF781 ZNF697 NR2F2 ZNF34 PRDM12 ZNF652 HNRNPL LOC101269108 LOC283683 CYFIP1 PIR53215 PIR44215
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYFIP1 on UCSC Golden Path with GeneCards custom track

Promoters for CYFIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000074027 963 2201 ARID4B SIN3A ZNF48 TCF12 GLIS2 GATA2 KLF7 FOS ZNF263 SP3

Genomic Location for CYFIP1 Gene

Chromosome:
15
Start:
22,867,052 bp from pter
End:
22,981,063 bp from pter
Size:
114,012 bases
Orientation:
Minus strand

Genomic View for CYFIP1 Gene

Genes around CYFIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYFIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYFIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYFIP1 Gene

Proteins for CYFIP1 Gene

  • Protein details for CYFIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L576-CYFP1_HUMAN
    Recommended name:
    Cytoplasmic FMR1-interacting protein 1
    Protein Accession:
    Q7L576
    Secondary Accessions:
    • A8K6D9
    • Q14467
    • Q5IED0
    • Q6ZSX1
    • Q9BSD9
    • Q9BVC7

    Protein attributes for CYFIP1 Gene

    Size:
    1253 amino acids
    Molecular mass:
    145182 Da
    Quaternary structure:
    • Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within the complex, a heterodimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and BRK1. Component of the CYFIP1-EIF4E-FMR1 complex which is composed of CYFIP, EIF4E and FMR1. Interacts with FMR1 but does not bind to related proteins FXR1 or FXR2. Interaction with EIF4E stimulates FMR1 binding. Component of the WAVE2 complex composed of ABI1, CYFIP1/SRA1, NCKAP1/NAP1 (NCKAP1l/HEM1 in hematopoietic cells) and WASF2/WAVE2 (PubMed:16417406). Interacts with the active GTP-bound form of RAC1. Interacts through its C-terminus with the C-terminus of DPYSL2/CRMP2 which is necessary for DPYSL2-induced axon outgrowth. Interacts with NYAP1, NYAP2 and MYO16. Interacts with TMEM108 (via N-terminus); the interaction associates TMEM108 with the WAVE1 complex (By similarity).
    Miscellaneous:
    • Breakpoint hotspot for the Prader-Willi/Angelman syndromes and may be implicated in autism. Commonly altered in tumors.
    SequenceCaution:
    • Sequence=BAA07552.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CYFIP1 Gene

    Alternative splice isoforms for CYFIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYFIP1 Gene

Post-translational modifications for CYFIP1 Gene

  • Ubiquitination at Lys1053 and isoforms=2, 31210
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CYFIP1 Gene

Domains & Families for CYFIP1 Gene

Suggested Antigen Peptide Sequences for CYFIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7L576

UniProtKB/Swiss-Prot:

CYFP1_HUMAN :
  • Belongs to the CYFIP family.
Family:
  • Belongs to the CYFIP family.
genes like me logo Genes that share domains with CYFIP1: view

No data available for Gene Families for CYFIP1 Gene

Function for CYFIP1 Gene

Molecular function for CYFIP1 Gene

UniProtKB/Swiss-Prot Function:
Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression. In the CYFIP1-EIF4E-FMR1 complex this subunit is an adapter between EIF4E and FMR1. Promotes the translation repression activity of FMR1 in brain probably by mediating its association with EIF4E and mRNA (By similarity). Regulates formation of membrane ruffles and lamellipodia. Plays a role in axon outgrowth. Binds to F-actin but not to RNA. Part of the WAVE complex that regulates actin filament reorganization via its interaction with the Arp2/3 complex. Actin remodeling activity is regulated by RAC1. Regulator of epithelial morphogenesis. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). May act as an invasion suppressor in cancers.

Gene Ontology (GO) - Molecular Function for CYFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000340 RNA 7-methylguanosine cap binding IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 11438699
GO:0032403 protein complex binding IMP 21107423
GO:0048365 Rac GTPase binding ISS --
genes like me logo Genes that share ontologies with CYFIP1: view
genes like me logo Genes that share phenotypes with CYFIP1: view

Animal Model Products

CRISPR Products

miRNA for CYFIP1 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYFIP1 Gene

Localization for CYFIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYFIP1 Gene

Cytoplasm. Cytoplasm, perinuclear region. Cell projection, lamellipodium. Cell projection, ruffle. Cell junction, synapse, synaptosome. Note=Highly expressed in the perinuclear region (By similarity). Enriched in synaptosomes (By similarity). Also enriched in membrane ruffles and at the tips of lamellipodia (By similarity). {ECO:0000250 UniProtKB:Q7TMB8}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYFIP1 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CYFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005845 mRNA cap binding complex ISS --
genes like me logo Genes that share ontologies with CYFIP1: view

Pathways & Interactions for CYFIP1 Gene

genes like me logo Genes that share pathways with CYFIP1: view

Gene Ontology (GO) - Biological Process for CYFIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0008360 regulation of cell shape IEA --
GO:0016601 Rac protein signal transduction IMP 21107423
genes like me logo Genes that share ontologies with CYFIP1: view

No data available for SIGNOR curated interactions for CYFIP1 Gene

Drugs & Compounds for CYFIP1 Gene

(1) Drugs for CYFIP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with CYFIP1: view

Transcripts for CYFIP1 Gene

Unigene Clusters for CYFIP1 Gene

Cytoplasmic FMR1 interacting protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYFIP1 Gene

No ASD Table

Relevant External Links for CYFIP1 Gene

GeneLoc Exon Structure for
CYFIP1
ECgene alternative splicing isoforms for
CYFIP1

Expression for CYFIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYFIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CYFIP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYFIP1 Gene



Protein tissue co-expression partners for CYFIP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYFIP1 Gene:

CYFIP1

SOURCE GeneReport for Unigene cluster for CYFIP1 Gene:

Hs.26704

Evidence on tissue expression from TISSUES for CYFIP1 Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Skin(2.6)
  • Intestine(2.5)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with CYFIP1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYFIP1 Gene

Orthologs for CYFIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYFIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYFIP1 34
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia CYFIP1 34
  • 90.96 (n)
mouse
(Mus musculus)
Mammalia Cyfip1 34 16
  • 90.21 (n)
rat
(Rattus norvegicus)
Mammalia Cyfip1 34
  • 89.78 (n)
chicken
(Gallus gallus)
Aves CYFIP1 34
  • 82.07 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cyfip1 34
  • 79.2 (n)
Str.15568 34
zebrafish
(Danio rerio)
Actinopterygii cyfip1 34
  • 79.49 (n)
Dr.1164 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5585 34
fruit fly
(Drosophila melanogaster)
Insecta Sra-1 36
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea gex-2 34
  • 55.89 (n)
Species where no ortholog for CYFIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYFIP1 Gene

ENSEMBL:
Gene Tree for CYFIP1 (if available)
TreeFam:
Gene Tree for CYFIP1 (if available)

Paralogs for CYFIP1 Gene

Paralogs for CYFIP1 Gene

(2) SIMAP similar genes for CYFIP1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with CYFIP1: view

Variants for CYFIP1 Gene

Sequence variations from dbSNP and Humsavar for CYFIP1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000047677 -- 22,897,596(+) CTCCC(A/G)CCTCA intron-variant
rs1000050554 -- 22,917,952(-) GATCA(C/T)TTGGT intron-variant, upstream-variant-2KB
rs1000081339 -- 22,978,462(-) AGATC(G/T)TAGCA intron-variant
rs1000117353 -- 22,898,827(+) TGAAA(C/T)CCCGT intron-variant
rs1000118346 -- 22,953,587(+) TGGCC(A/T)GGTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYFIP1 Gene

Variant ID Type Subtype PubMed ID
dgv2403n100 CNV gain 25217958
dgv2404n100 CNV gain 25217958
dgv2405n100 CNV gain+loss 25217958
dgv2406n100 CNV gain 25217958
dgv2407n100 CNV gain+loss 25217958
dgv2408n100 CNV loss 25217958
dgv2409n100 CNV loss 25217958
dgv287n27 CNV gain 19166990
dgv4317n54 CNV loss 21841781
dgv4318n54 CNV gain 21841781
dgv4319n54 CNV gain+loss 21841781
dgv4320n54 CNV gain 21841781
dgv4322n54 CNV loss 21841781
dgv708e212 CNV loss 25503493
dgv709e212 CNV gain 25503493
dgv8n31 CNV loss 19718026
dgv9n31 CNV loss 19718026
esv2474417 CNV loss 19546169
esv34463 CNV gain 17911159
esv3569265 CNV gain 25503493
esv3635806 CNV loss 21293372
esv3635807 CNV gain 21293372
esv3635820 CNV loss 21293372
esv3635821 CNV loss 21293372
esv3635822 CNV gain 21293372
esv3892604 CNV gain+loss 25118596
esv3892622 CNV gain 25118596
esv3892626 CNV gain+loss 25118596
nsv1040546 CNV gain 25217958
nsv1131175 CNV deletion 24896259
nsv1141625 CNV deletion 24896259
nsv433290 CNV loss 18776910
nsv433429 CNV gain 18776910
nsv437797 CNV loss 16327808
nsv442359 CNV gain+loss 18776908
nsv456612 CNV loss 19166990
nsv456636 CNV loss 19166990
nsv469615 CNV loss 16826518
nsv469667 CNV loss 16826518
nsv471225 CNV gain 18288195
nsv471226 CNV loss 18288195
nsv471376 CNV loss 19718026
nsv511042 OTHER inversion 20534489
nsv568226 CNV gain 21841781
nsv568235 CNV loss 21841781
nsv568262 CNV loss 21841781
nsv568263 CNV loss 21841781
nsv568264 CNV loss 21841781
nsv832926 CNV gain+loss 17160897
nsv9184 CNV loss 18304495
nsv94774 CNV insertion 16902084

Variation tolerance for CYFIP1 Gene

Residual Variation Intolerance Score: 0.777% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.00; 90.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYFIP1 Gene

Human Gene Mutation Database (HGMD)
CYFIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYFIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYFIP1 Gene

Disorders for CYFIP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CYFIP1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fragile x syndrome
  • fragile x mental retardation syndrome
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CYFIP1

Genetic Association Database (GAD)
CYFIP1
Human Genome Epidemiology (HuGE) Navigator
CYFIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYFIP1
genes like me logo Genes that share disorders with CYFIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYFIP1 Gene

Publications for CYFIP1 Gene

  1. A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. (PMID: 11438699) Schenck A. … Mandel J.L. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 22 64
  2. Structure and control of the actin regulatory WAVE complex. (PMID: 21107423) Chen Z. … Rosen M.K. (Nature 2010) 3 4 64
  3. Confirmed rare copy number variants implicate novel genes in schizophrenia. (PMID: 20298200) Tam G.W. … Grant S.G. (Biochem. Soc. Trans. 2010) 3 22 64
  4. Cyfip1 is a putative invasion suppressor in epithelial cancers. (PMID: 19524508) Silva J.M. … Hannon G.J. (Cell 2009) 3 4 64
  5. The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. (PMID: 18805096) Napoli I. … Bagni C. (Cell 2008) 3 22 64

Products for CYFIP1 Gene

Sources for CYFIP1 Gene

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