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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]
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.
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of actin dynamics for phagocytic cup formation | ||
2 | Innate Immune System |
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3 | Signaling by Rho GTPases | ||
4 | RET signaling | ||
5 | Pathogenic Escherichia coli infection |
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 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CYFIP1 30 |
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Cow (Bos Taurus) |
Mammalia | CYFIP1 30 |
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Mouse (Mus musculus) |
Mammalia | Cyfip1 30 17 |
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Rat (Rattus norvegicus) |
Mammalia | Cyfip1 30 |
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Chicken (Gallus gallus) |
Aves | CYFIP1 30 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyfip1 30 |
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Str.15568 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | cyfip1 30 |
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Dr.1164 30 |
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Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5585 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | Sra-1 32 |
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Worm (Caenorhabditis elegans) |
Secernentea | gex-2 30 |
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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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
fragile x syndrome |
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chromosome 15q11.2 deletion syndrome |
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autism |
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prader-willi syndrome |
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cataract 25 |
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