CYFIP1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Cytoplasmic FMR1-interacting protein 1 is a protein that in humans is encoded by the CYFIP1 gene.[5][6]

PDBOrtholog search: PDBe RCSB
AliasesCYFIP1, P140SRA-1, SHYC, SRA-1, SRA1, cytoplasmic FMR1 interacting protein 1
Quick facts Available structures, PDB ...
CYFIP1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCYFIP1, P140SRA-1, SHYC, SRA-1, SRA1, cytoplasmic FMR1 interacting protein 1
External IDsOMIM: 606322; MGI: 1338801; HomoloGene: 22628; GeneCards: CYFIP1; OMA:CYFIP1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001164661
NM_001164662
NM_011370

RefSeq (protein)

NP_001158133
NP_001158134
NP_035500

Location (UCSC)Chr 15: 22.87 – 22.98 MbChr 7: 55.49 – 55.58 Mb
PubMed search[3][4]
Wikidata
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Interactions

CYFIP1 has been shown to interact with FMR1,[5] to the exclusion of FXR1 and FXR2.[5] It also forms part of the WAVE regulatory complex (WRC),[7] and based on the crystal structure of the WRC it is believed CYFIP1 provides the binding site for the complex to Rac1.[8]

Medical research applications

The CYFIP1 gene with haploinsufficiency may provide a model for the associated neuropsychiatric and neurological phenotypes of disorders such as autism and schizophrenia.[9][10] With autism, a potential molecular link was identified between FMR1-FM and the genetic disorder dup(15q), in terms of the cytoplasmic FMR1 interacting protein 1 (CYFIP1) up regulated in those with the disorder.[11]

References

Further reading

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