CYFIP1 (cytoplasmic FMR1 interacting protein 1)

2009-08-01  

Identity

HGNC
CYFIP1
LOCATION
15q11.2
LOCUSID
23191
ALIAS
P140SRA-1,SHYC,SRA-1,SRA1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375730072024Loss of Function in the Neurodevelopmental Disease and Schizophrenia-Associated Gene CYFIP1 in Human Microglia-like Cells Supports a Functional Role in Synaptic Engulfment.2
381287862024Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia.0
384270782024Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.0
375730072024Loss of Function in the Neurodevelopmental Disease and Schizophrenia-Associated Gene CYFIP1 in Human Microglia-like Cells Supports a Functional Role in Synaptic Engulfment.2
381287862024Different dysregulations of CYFIP1 and CYFIP2 in distinct types of dementia.0
384270782024Integrated machine learning-driven disulfidptosis profiling: CYFIP1 and EMILIN1 as therapeutic nodes in neuroblastoma.0
340313712021Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms.14
343276612021Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders.8
340313712021Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms.14
343276612021Cytoplasmic FMR1 interacting protein (CYFIP) family members and their function in neural development and disorders.8
317058952020Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders.6
317058952020Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders.6
311985252019CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes.9
312024902019Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage.5
311985252019CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes.9

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