Free for academic non-profit institutions. Other users need a Commercial license
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 in... See more...
Aliases for CYFIP1 Gene
Aliases for CYFIP1 Gene
External Ids for CYFIP1 Gene
- HGNC: 13759
- Entrez Gene: 23191
- Ensembl: ENSG00000273749
- OMIM: 606322
- UniProtKB: Q7L576
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
-
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 Chromosome 15Q11.2 Deletion Syndrome. Among its related pathways are Signaling by GPCR and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include Rac GTPase binding. An important paralog of this gene is CYFIP2.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for CYFIP1 Gene
- HGNC(13759)
- Entrez Gene(23191)
- Ensembl(ENSG00000273749)
- OMIM(606322)
- UniProtKB(Q7L576)
- Open Targets Platform(ENSG00000273749)
- Search for CYFIP1 at DataMed
- Search for CYFIP1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYFIP1 Gene
Genomics for CYFIP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CYFIP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CYFIP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYFIP1
- Top Transcription factor binding sites by QIAGEN in the CYFIP1 gene promoter:
-
- AML1a
- E47
- FOXO3
- FOXO3a
- FOXO3b
- NF-1
- NF-1/L
- STAT5A
Genomic Locations for CYFIP1 Gene
Genomic Locations for CYFIP1 Gene
- chr15:22,867,052-22,981,063
- (GRCh38/hg38)
- Size:
- 114,012 bases
- Orientation:
- Minus strand
- chr15:22,892,005-23,006,016
- (GRCh37/hg19)
- Size:
- 114,012 bases
- Orientation:
- Plus strand
Genomic View for CYFIP1 Gene
Genes around CYFIP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q11.2 by HGNC
- 15q11.2 by Entrez Gene
- 15q11.2 by Ensembl
CYFIP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
- SequenceCaution:
-
- Sequence=BAA07552.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- Breakpoint hotspot for the Prader-Willi/Angelman syndromes and may be implicated in autism. Commonly altered in tumors.
Protein Expression for CYFIP1 Gene
Post-translational modifications for CYFIP1 Gene
Other Protein References for CYFIP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ CYFIP1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for CYFIP1
- Novus Biologicals Antibodies for CYFIP1
-
Abcam antibodies for CYFIP1
- Invitrogen Antibodies for CYFIP1 (AFLGC-Cyfip1)
-
Biorbyt antibodies for CYFIP1
-
Boster Bio Antibodies for CYFIP1
Protein Products
-
OriGene Purified Proteins for CYFIP1
- Search Origene for MassSpec and Protein Over-expression Lysates for CYFIP1
- Origene Custom Protein Services for CYFIP1
- antibodies-online: Show 4 available CYFIP1 Proteins ranked by validation data
- Compare Top CYFIP1 Proteins
-
Quality Products:
-
Signalway Proteins for CYFIP1
-
Abcam proteins for CYFIP1
Assay Products
- antibodies-online: Show 5 available CYFIP1 Elisa Kits ranked by validation data
- Compare Top CYFIP1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for CYFIP1
No data available for DME Specific Peptides for CYFIP1 Gene
Domains & Families for CYFIP1 Gene
Gene Families for CYFIP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for CYFIP1 Gene
- InterPro:
- Blocks:
-
- Cytoplasmic fragile X mental retardation protein interacting protein signature
- ProtoNet:
Suggested Antigen Peptide Sequences for CYFIP1 Gene
- GenScript: Design optimal peptide antigens:
-
- p140sra-1 (CYFP1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q7L576- Family:
-
- Belongs to the CYFIP family.
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.
Phenotypes From GWAS Catalog for CYFIP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000340 | RNA 7-methylguanosine cap binding | IBA | 21873635 |
| GO:0003779 | actin binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 11438699 |
| GO:0045182 | translation regulator activity | IEA | -- |
| GO:0048365 | Rac GTPase binding | ISS | -- |
Phenotypes for CYFIP1 Gene
- MGI mutant phenotypes for CYFIP1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for CYFIP1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CYFIP1 - Select products 50% OFF >
- * CYFIP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CYFIP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYFIP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYFIP1
miRNA for CYFIP1 Gene
- miRTarBase miRNAs that target CYFIP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYFIP1
- Browse OriGene Inhibitory RNA Products For CYFIP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYFIP1
Clone Products
- Applied Biological Materials (abm): Clones for CYFIP1 - Select products 50% OFF >
- * CYFIP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG222937
- MG222940
- MG222942
- MR222937
- MR222937L3
- MR222937L4
- MR222940
- MR222940L3
- MR222940L4
- MR222942
- MR222942L3
- MR222942L4
- RC203015
- RC203015L1
- RC203015L2
- RC203015L3
- RC203015L4
- RC212267
- RC212267L3
- RC212267L4
- RC240076
- RG203015
- RG212267
- RR202187
- MR222937L3V
- MR222937L4V
- MR222940L3V
- MR222940L4V
- MR222942L3V
- MR222942L4V
- RC203015L1V
- RC203015L2V
- RC203015L3V
- RC203015L4V
- RC212267L3V
- RC212267L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CYFIP1
- Addgene plasmids for CYFIP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYFIP1
Cell Line Products
-
Horizon Cell Lines for CYFIP1
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}.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| cytosol | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYFIP1 Gene
Pathways & Interactions for CYFIP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of actin dynamics for phagocytic cup formation | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Signaling by Rho GTPases | ||
| 4 | RET signaling | ||
| 5 | Pathogenic Escherichia coli infection | ||
Pathways by source for CYFIP1 Gene
2 BioSystems pathways for CYFIP1 Gene
11 Reactome pathways for CYFIP1 Gene
4 KEGG pathways for CYFIP1 Gene
2 Qiagen pathways for CYFIP1 Gene
- Rac1 Pathway
- Rho Family GTPases
Interacting Proteins for CYFIP1 Gene
Selected Interacting proteins:
Q7L576-CYFP1_HUMAN
ENSP00000481038
for CYFIP1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CYFIP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000902 | cell morphogenesis | IBA | 21873635 |
| GO:0006417 | regulation of translation | IBA | 21873635 |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0007411 | axon guidance | IBA | 21873635 |
Drugs & Compounds for CYFIP1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine triphosphate | Experimental | Pharma | 0 |
Transcripts for CYFIP1 Gene
mRNA/cDNA for CYFIP1 Gene
- 10 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000617928 6826 nts (view in UCSC)
- ENST00000617556 5674 nts (view in UCSC)
- ENST00000619348 3471 nts (view in UCSC)
- ENST00000610365 4515 nts (view in UCSC)
- ENST00000561263 707 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CYFIP1 - Select products 50% OFF >
- * CYFIP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CYFIP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYFIP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYFIP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYFIP1
- Browse OriGene Inhibitory RNA Products For CYFIP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYFIP1
Clone Products
- Applied Biological Materials (abm): Clones for CYFIP1 - Select products 50% OFF >
- * CYFIP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG222937
- MG222940
- MG222942
- MR222937
- MR222937L3
- MR222937L4
- MR222940
- MR222940L3
- MR222940L4
- MR222942
- MR222942L3
- MR222942L4
- RC203015
- RC203015L1
- RC203015L2
- RC203015L3
- RC203015L4
- RC212267
- RC212267L3
- RC212267L4
- RC240076
- RG203015
- RG212267
- RR202187
- MR222937L3V
- MR222937L4V
- MR222940L3V
- MR222940L4V
- MR222942L3V
- MR222942L4V
- RC203015L1V
- RC203015L2V
- RC203015L3V
- RC203015L4V
- RC212267L3V
- RC212267L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CYFIP1
- Addgene plasmids for CYFIP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYFIP1
Relevant External Links for CYFIP1 Gene
- GeneLoc Exon Structure for
- CYFIP1
Expression for CYFIP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Head Mesenchyme (Muscoskeletal System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYFIP1
SOURCE GeneReport for Unigene cluster for CYFIP1 Gene:
Hs.26704Evidence on tissue expression from TISSUES for CYFIP1 Gene
- Nervous system(4.7)
- Liver(4.3)
- Skin(3.4)
- Intestine(2.9)
- Blood(2.6)
- Kidney(2.5)
- Lung(2.4)
- Bone(2)
- Heart(2)
Primer Products
-
OriGene qPCR primer pairs for CYFIP1
-
OriGene qPCR primer pairs and template standards for CYFIP1
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CYFIP1 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | CYFIP1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cyfip1 30 17 |
|
||
| Rat (Rattus norvegicus) |
Mammalia | Cyfip1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | CYFIP1 30 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyfip1 30 |
|
||
| Str.15568 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | cyfip1 30 |
|
||
| Dr.1164 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5585 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Sra-1 32 |
|
|
|
| Worm (Caenorhabditis elegans) |
Secernentea | gex-2 30 |
|
- Species where no ortholog for CYFIP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CYFIP1: view image
Paralogs for CYFIP1 Gene
(2) SIMAP similar genes for CYFIP1 Gene using alignment to 7 proteins:
- CYFP1_HUMAN
- H0YL39_HUMAN
- H0YL50_HUMAN
- H0YLJ5_HUMAN
- H0YN93_HUMAN
- H0YNK3_HUMAN
- H0YNP0_HUMAN
Variants for CYFIP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYFIP1 Gene
| SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 711104 | Likely Benign: not provided | 22,903,835(-) | C/T | MISSENSE_VARIANT | |
| 716811 | Benign: not provided | 22,875,215(-) | C/A | SYNONYMOUS_VARIANT | |
| 722266 | Likely Benign: not provided | 22,881,862(-) | G/A | SYNONYMOUS_VARIANT | |
| 723046 | Likely Benign: not provided | 22,947,057(-) | T/C | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 726641 | Benign: not provided | 22,918,835(-) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT |
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)
Additional Variant Information for CYFIP1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYFIP1 Gene
Disorders for CYFIP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fragile x syndrome |
|
|
| chromosome 15q11.2 deletion syndrome |
|
|
| autism |
|
|
| prader-willi syndrome |
|
|
| cataract 25 |
|
|
Search CYFIP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CYFIP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CYFIP1 Gene
Publications for CYFIP1 Gene
- 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 JL (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 23
- Structure and control of the actin regulatory WAVE complex. (PMID: 21107423) Chen Z … Rosen MK (Nature 2010) 3 4
- Confirmed rare copy number variants implicate novel genes in schizophrenia. (PMID: 20298200) Tam GW … Grant SG (Biochemical Society transactions 2010) 3 23
- Cyfip1 is a putative invasion suppressor in epithelial cancers. (PMID: 19524508) Silva JM … Hannon GJ (Cell 2009) 3 4
- The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. (PMID: 18805096) Napoli I … Bagni C (Cell 2008) 3 23
ExternalLinks
Products for CYFIP1 Gene
- Custom Antibody ServicesOriGene Antibodies for CYFIP1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CYFIP1
- Search Origene for MassSpec and Protein Over-expression Lysates for CYFIP1
- Origene Custom Protein Services for CYFIP1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYFIP1
- Browse OriGene Inhibitory RNA Products For CYFIP1
- OriGene qPCR primer pairs for CYFIP1
- OriGene qPCR primer pairs and template standards for CYFIP1
- OriGene CRISPR knockouts for CYFIP1
- MG222937
- MG222940
- MG222942
- MR222937
- MR222937L3
- MR222937L4
- MR222940
- MR222940L3
- MR222940L4
- MR222942
- MR222942L3
- MR222942L4
- RC203015
- RC203015L1
- RC203015L2
- RC203015L3
- RC203015L4
- RC212267
- RC212267L3
- RC212267L4
- RC240076
- RG203015
- RG212267
- RR202187
- MR222937L3V
- MR222937L4V
- MR222940L3V
- MR222940L4V
- MR222942L3V
- MR222942L4V
- RC203015L1V
- RC203015L2V
- RC203015L3V
- RC203015L4V
- RC212267L3V
- RC212267L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CYFIP1
- Sino Biological Human cDNA Clone for CYFIP1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CYFIP1
- Novus Biologicals proteins and lysates for CYFIP1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CYFIP1
- Abcam proteins for CYFIP1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for CYFIP1 (AFLGC-Cyfip1)
- VectorBuilder Custom and pre-made DNA vectors for CYFIP1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CYFIP1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CYFIP1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CYFIP1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CYFIP1
- Addgene plasmids for CYFIP1
- antibodies-online: Show 7 available CYFIP1 Antibodies ranked by validation data
- Compare Top CYFIP1 Antibodies
- antibodies-online: Show 5 available CYFIP1 Elisa Kits ranked by validation data
- Compare Top CYFIP1 Elisa Kits
- Quality Products:
- antibodies-online: Show 4 available CYFIP1 Proteins ranked by validation data
- Compare Top CYFIP1 Proteins
- Quality Products:
- Horizon Cell Lines for CYFIP1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYFIP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYFIP1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CYFIP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYFIP1
- Boster Bio Antibodies for CYFIP1
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for CYFIP1
Sources for CYFIP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB