FBXO7 (F-box protein 7)

2016-05-01  

Identity

HGNC
FBXO7
LOCATION
22q12.3
LOCUSID
25793
ALIAS
FBX,FBX07,FBX7,PARK15,PKPS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25793
MIM: 605648
HGNC: 13586
Ensembl: ENSG00000100225

Variants:

dbSNP: 25793
ClinVar: 25793
TCGA: ENSG00000100225
COSMIC: FBXO7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100225ENST00000266087Q9Y3I1
ENSG00000100225ENST00000397426Q9Y3I1
ENSG00000100225ENST00000420700F8WBR0
ENSG00000100225ENST00000425028F8WDR9
ENSG00000100225ENST00000444207A2A282
ENSG00000100225ENST00000452138Q9Y3I1

Expression (GTEx)

0
50
100
150
200
250
300
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
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

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
239337512013The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.86
190388532009FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.83
206693272010Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.67
151459412004Fbx7 functions in the SCF complex regulating Cdk1-cyclin B-phosphorylated hepatoma up-regulated protein (HURP) proteolysis by a proline-rich region.39
184956672008Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor.32
260100692015A new F-box protein 7 gene mutation causing typical Parkinson's disease.16
222127612012Identification of F-box only protein 7 as a negative regulator of NF-kappaB signalling.14
233185122013F-box only protein 7 gene in parkinsonian-pyramidal disease.13
263106252015F-box protein 7 mutations promote protein aggregation in mitochondria and inhibit mitophagy.13
213781692011A Competitive binding mechanism between Skp1 and exportin 1 (CRM1) controls the localization of a subset of F-box proteins.12

Citation

Dessen P

FBXO7 (F-box protein 7)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55738/fbxo7