FBXO43
F-box only protein 43
Also known as: Fbx43, FBX43_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q4G163
- Gene
- FBXO43
- Ensembl
- ENSG00000156509
- Chromosome
- 8
- Canonical length
- 708 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
708 residues, UniProt reviewed canonical sequence.
>Q4G163|FBXO43
1 MSFKDKDERI SCLEAYVTLT SKSSRFTDET EILKMSQRHS GQAGTEAGNG ADSPPIVNSK
61 YSTFRDFCST SSFQDSGYNE LKSCSFDNID KEYLGKKEKG PTLLYEHPET SGLGLTHPLE
121 SPTQKKKCIL PRKEKDKTPE LCETPKISGK KCLPRRRLNV SFALLKGDFE SQNSSLESSI
181 SQVINLEKNI PSSASGFSRA NNFSPLVTST LKTEEVTSCS QKLRLNFSQQ KTSTIDDSKD
241 DCSLFEVECI SPIQGNNFKD SITHDFSDSS LCINDENACP ELLGSSVSGT TCGTDEDIFV
301 TPISNLVANI RFNASQILSP SPEVRGSIST PEDSGFNSLS LEKSEDSLSD QEGSFQELLQ
361 KHKGTPKVGD TIRKTRHLGR SRRLSTLREQ SSQSETEEEK QIVHPDSEKR AAAASAISEG
421 QLSSDESGDL TFSLKNLSKT PALQLVHELF MKSKRKRLQE NSGHEFLEQG DGEKIAVLQC
481 ILAGLIGKKM GIEKLDILTE LKYRNLKHIL AMVLESLTAE SLCSVWKVSR NWREIVVQDK
541 NANRRRKFYI TQLKTDSEGA VLNVEDAATR LQLLNRSALR SVQAQARIPG SQREQGSTLS
601 PWGEVLTPLA SSSVTHLSSK QEEYVKVAKT LFTDEALKPC PRCQSPAKYQ PYKKRGLCSR
661 TACGFDFCVL CLCAYHGSEE CSRGAAKPRN RKDALPGSAQ SKRNLKRLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FBXO43 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)
- 0.62
- Highest tissue expression
- 3 nTPM
Expression across tissuesHPA
Tissue
- testis: 3 nTPM
- lymph node: 0.2 nTPM
- thymus: 0.2 nTPM
- appendix: 0.1 nTPM
- ovary: 0.1 nTPM
- skin: 0.1 nTPM
Single-cell type
- late primary spermatocytes: 41 nCPM
- early primary spermatocytes: 39 nCPM
- megakaryocyte progenitors: 12 nCPM
- monocyte progenitors: 12 nCPM
- late spermatids: 11 nCPM
- neutrophil progenitors: 11 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- midbrain: 0.1 nTPM
- pons: 0.1 nTPM
- spinal cord: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FBXO43.
Disease | AllUniProt
Conditions FBXO43 is implicated in, by any mechanism.
- Oocyte/zygote/embryo maturation arrest 12 (OZEMA12) MIM:619697
- Spermatogenic failure 64 (SPGF64) MIM:619696
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 107 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Oocyte maturation defect 12
- Spermatogenic failure 64
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)
- 0.81
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.67
- DepMap mean gene effect
- -0.15
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to nerve growth factor stimulus
- meiotic cell cycle
- negative regulation of cell cycle process
- negative regulation of meiotic nuclear division
- protein ubiquitination
- regulation of mitotic nuclear division
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FBXO43 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 FBXO43 as an antibody target. Whether an autoantibody or antibody against FBXO43 could matter depends on whether native FBXO43 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FBXO43 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 FBXO43 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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