CYFIP1 (cytoplasmic FMR1 interacting protein 1)

2009-08-01  

Identity

HGNC
LOCATION
15q11.2
LOCUSID
ALIAS
P140SRA-1,SHYC,SRA-1,SRA1
FUSION GENES

Other Information

Locus ID:

NCBI: 23191
MIM: 606322
HGNC: 13759
Ensembl: ENSG00000273749

Variants:

dbSNP: 23191
ClinVar: 23191
TCGA: ENSG00000273749
COSMIC: CYFIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000273749ENST00000561263H0YL50
ENSG00000273749ENST00000610365Q7L576
ENSG00000273749ENST00000611832A0A087WU52
ENSG00000273749ENST00000612288A0A087WVZ5
ENSG00000273749ENST00000613006A0A087WWL1
ENSG00000273749ENST00000617556Q7L576
ENSG00000273749ENST00000617928Q7L576
ENSG00000273749ENST00000619037A0A087WWY5
ENSG00000273749ENST00000622576A0A087WZ89

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Regulation of actin cytoskeletonKEGGko04810
Regulation of actin cytoskeletonKEGGhsa04810
RNA transportKEGGko03013
RNA transportKEGGhsa03013
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate WASPs and WAVEsREACTOMER-HSA-5663213
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
249961702014Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity.93
162606072005CRMP-2 is involved in kinesin-1-dependent transport of the Sra-1/WAVE1 complex and axon formation.89
145087082003Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.62
202982002010Confirmed rare copy number variants implicate novel genes in schizophrenia.54
169828062006Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome.44
250480042015Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.41
253113652015Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR.35
195245082009Cyfip1 is a putative invasion suppressor in epithelial cancers.34
202288102010Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin-AP-1-coated carrier biogenesis at the TGN.32
289492972017Rac1 GTPase activates the WAVE regulatory complex through two distinct binding sites.26

Citation

Dessen P

CYFIP1 (cytoplasmic FMR1 interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51038/cyfip1