FBXW7 (F-box and WD repeat domain containing 7)

2003-02-01  

Identity

HGNC
FBXW7
LOCATION
4q31.3
LOCUSID
55294
ALIAS
AGO,CDC4,FBW6,FBW7,FBX30,FBXO30,FBXW6,SEL-10,SEL10,hAgo,hCdc4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55294
MIM: 606278
HGNC: 16712
Ensembl: ENSG00000109670

Variants:

dbSNP: 55294
ClinVar: 55294
TCGA: ENSG00000109670
COSMIC: FBXW7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109670ENST00000281708Q969H0
ENSG00000109670ENST00000296555Q969H0
ENSG00000109670ENST00000393956Q969H0
ENSG00000109670ENST00000603548Q969H0
ENSG00000109670ENST00000603841Q969H0
ENSG00000109670ENST00000604872S4R3U4
ENSG00000109670ENST00000605042S4R3N3
ENSG00000109670ENST00000642901G0Z2K0
ENSG00000109670ENST00000643834G0Z2K0
ENSG00000109670ENST00000647166G0Z2K0

Expression (GTEx)

0
10
20
30
40
50
60
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
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
SCF-FBW7 complexKEGGhsa_M00387
SCF-FBW7 complexKEGGM00387
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Association of TriC/CCT with target proteins during biosynthesisREACTOMER-HSA-390471
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by NOTCH1 in CancerREACTOMER-HSA-2644603
Signaling by NOTCH1 PEST Domain Mutants in CancerREACTOMER-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain MutantsREACTOMER-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerREACTOMER-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsREACTOMER-HSA-2894862
FBXW7 Mutants and NOTCH1 in CancerREACTOMER-HSA-2644605
Loss of Function of FBXW7 in Cancer and NOTCH1 SignalingREACTOMER-HSA-2644607
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Signaling by NOTCH1REACTOMER-HSA-1980143
NOTCH1 Intracellular Domain Regulates TranscriptionREACTOMER-HSA-2122947

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
217988972011Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1.684
180947232008FBW7 ubiquitin ligase: a tumour suppressor at the crossroads of cell division, growth and differentiation.454
151504042004The Fbw7 tumor suppressor regulates glycogen synthase kinase 3 phosphorylation-dependent c-Myc protein degradation.342
151033312004Phosphorylation-dependent degradation of c-Myc is mediated by the F-box protein Fbw7.303
115334442001Phosphorylation-dependent ubiquitination of cyclin E by the SCFFbw7 ubiquitin ligase.301
213688332011SCF(FBW7) regulates cellular apoptosis by targeting MCL1 for ubiquitylation and destruction.265
176464092007FBW7 mutations in leukemic cells mediate NOTCH pathway activation and resistance to gamma-secretase inhibitors.251
149992832004Inactivation of hCDC4 can cause chromosomal instability.207
179090012007FBXW7/hCDC4 is a general tumor suppressor in human cancer.206
187871702008FBXW7 targets mTOR for degradation and cooperates with PTEN in tumor suppression.182

Citation

Dessen P

FBXW7 (F-box and WD repeat domain containing 7)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40542/fbxw7