FBXO7
F-box only protein 7
Also known as: Fbx, FBX7, FBX7_HUMAN, PARK15
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y3I1
- Gene
- FBXO7
- Ensembl
- ENSG00000100225
- Chromosome
- 22
- Canonical length
- 522 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
522 residues, UniProt reviewed canonical sequence.
>Q9Y3I1|FBXO7
1 MRLRVRLLKR TWPLEVPETE PTLGHLRSHL RQSLLCTWGY SSNTRFTITL NYKDPLTGDE
61 ETLASYGIVS GDLICLILQD DIPAPNIPSS TDSEHSSLQN NEQPSLATSS NQTSMQDEQP
121 SDSFQGQAAQ SGVWNDDSML GPSQNFEAES IQDNAHMAEG TGFYPSEPML CSESVEGQVP
181 HSLETLYQSA DCSDANDALI VLIHLLMLES GYIPQGTEAK ALSMPEKWKL SGVYKLQYMH
241 PLCEGSSATL TCVPLGNLIV VNATLKINNE IRSVKRLQLL PESFICKEKL GENVANIYKD
301 LQKLSRLFKD QLVYPLLAFT RQALNLPDVF GLVVLPLELK LRIFRLLDVR SVLSLSAVCR
361 DLFTASNDPL LWRFLYLRDF RDNTVRVQDT DWKELYRKRH IQRKESPKGR FVMLLPSSTH
421 TIPFYPNPLH PRPFPSSRLP PGIIGGEYDQ RPTLPYVGDP ISSLIPGPGE TPSQFPPLRP
481 RFDPVGPLPG PNPILPGRGG PNDRFPFRPS RGRPTDGRLS FMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FBXO7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 264 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 264 nTPM
- thyroid gland: 126 nTPM
- spinal cord: 122 nTPM
- liver: 120 nTPM
- choroid plexus: 112 nTPM
- kidney: 99 nTPM
Single-cell type
- late spermatids: 1,098 nCPM
- erythrocytes: 348 nCPM
- early spermatids: 332 nCPM
- erythrocyte progenitors: 287 nCPM
- late primary spermatocytes: 229 nCPM
- retinal pigment epithelial cells: 188 nCPM
Immune cell
- basophil: 252 nTPM
- eosinophil: 132 nTPM
- MAIT T-cell: 102 nTPM
- T-reg: 102 nTPM
- NK-cell: 99 nTPM
- total PBMC: 90 nTPM
Brain region
- white matter: 114 nTPM
- basal ganglia: 94 nTPM
- medulla oblongata: 93 nTPM
- midbrain: 90 nTPM
- pons: 86 nTPM
- cerebellum: 82 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FBXO7.
Disease | AllUniProt
Conditions FBXO7 is implicated in, by any mechanism.
- Parkinson disease 15 (PARK15) MIM:260300
Disease | GeneticClinVar
47 pathogenic / likely-pathogenic of 490 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Parkinsonian-pyramidal syndrome
- FBXO7-related disorder
- Clear cell carcinoma of kidney
- Glioma susceptibility 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.88
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.44
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagy of mitochondrion
- lymphocyte differentiation
- negative regulation of canonical NF-kappaB signal transduction
- negative regulation of G1/S transition of mitotic cell cycle
- negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
- positive regulation of autophagy of mitochondrion
- positive regulation of mitophagy
- proteasome-mediated ubiquitin-dependent protein catabolic process
- protein K48-linked ubiquitination
- protein targeting to mitochondrion
- protein ubiquitination
- regulation of locomotion
- regulation of neuron projection development
- regulation of protein stability
- SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
- ubiquitin-dependent protein catabolic process
- negative regulation of lymphocyte differentiation
Molecular functions
- protein heterodimerization activity
- protein kinase binding
- ubiquitin binding
- ubiquitin protein ligase binding
- ubiquitin-like ligase-substrate adaptor activity
- ubiquitin-protein transferase activity
Cellular components
- cytoplasm
- cytosol
- Lewy body core
- mitochondrion
- nucleoplasm
- nucleus
- protein-containing complex
- SCF ubiquitin ligase complex
- ubiquitin ligase complex
- classical Lewy body
- glial cytoplasmic inclusion
- Lewy body corona
- Lewy neurite
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FBXO7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FBXO7 as an antibody target. Whether an autoantibody or antibody against FBXO7 could matter depends on whether native FBXO7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FBXO7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FBXO7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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