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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FBXO47
F-box protein 47
Chromosome 17 · 17q12|17q12
NCBI Gene: 494188Ensembl: ENSG00000204952.3HGNC: HGNC:31969UniProt: Q5MNV8
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
SCF-dependent proteasomal ubiquitin-dependent protein catabolic processfacial painhypothyroidismazoospermiahypertension
✦AI Summary

FBXO47 is an F-box protein that functions as a component of the SCF (SKP1-Cullin-F-box) ubiquitin E3 ligase complex, recognizing phosphorylated substrate proteins and promoting their polyubiquitination and proteasomal degradation 1. Originally identified in a region deleted in papillary renal cell carcinoma and preferentially expressed in normal tissues, FBXO47 exhibits tumor-suppressor properties 2. In cancer contexts, FBXO47 expression is downregulated: the GABPB1-AS1/miR-566/FBXO47 axis suppresses non-small cell lung cancer progression 3, while tRF-3019a targets FBXO47 to enhance gastric cancer proliferation and invasion 4. FBXO47's primary biological role is meiosis-specific, where it functions at centromeres and telomeres. During early meiosis, FBXO47 interacts with SKP1 and HORMAD1, targeting HORMAD1 for degradation to prevent aberrant DNA double-strand break accumulation 1. At centromeres, FBXO47 regulates centromere pairing and stabilizes SKP1 to facilitate proper synaptonemal complex formation 5. FBXO47 also stabilizes TRF2 in the telomeric shelterin complex, enabling proper telomere-nuclear envelope attachment during meiosis 6. Fbxo47 knockout mice exhibit male infertility due to meiotic arrest. FBXO47 variants show no significant association with multiple system atrophy in Asian populations 7.

Sources cited
1
FBXO47 isolation, chromosomal location (17q12), preferential expression in normal tissues, and potential tumor-suppressor role in papillary renal cell carcinoma
PMID: 15723337
2
FBXO47 interacts with SKP1 and targets HORMAD1 for polyubiquitination and degradation during early meiosis to regulate DNA double-strand breaks
PMID: 35489071
3
FBXO47 localizes at centromeres, regulates centromere pairing with SKP1, stabilizes SKP1, and enables synaptonemal complex formation in pachynema
PMID: 39244596
4
FBXO47 expression is reduced in non-small cell lung cancer and acts as tumor suppressor targeted by the GABPB1-AS1/miR-566 axis
PMID: 37304650
5
tRF-3019a targets FBXO47 (tumor suppressor) to enhance gastric cancer cell proliferation, migration, and invasion
PMID: 32592804
6
FBXO47 regulates telomeric shelterin complex by stabilizing TRF2 during meiotic prophase I; Fbxo47 knockout causes male infertility and defective synaptonemal complex formation
PMID: 31724724
7
FBXO47 rs78523330 SNP shows no significant association with multiple system atrophy in Chinese Han population
PMID: 29661569
Disease Associationsⓘ20
facial painOpen Targets
0.11Weak
hypothyroidismOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Suggestive
hypertensionOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 59Open Targets
0.08Suggestive
spermatogenic failure 60Open Targets
0.08Suggestive
spermatogenic failure 73Open Targets
0.08Suggestive
spermatogenic failure 74Open Targets
0.08Suggestive
spermatogenic failure 61Open Targets
0.08Suggestive
spermatogenic failure 62Open Targets
0.08Suggestive
spermatogenic failure 88Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
spermatogenic failure 3Open Targets
0.07Suggestive
spermatogenic failure 55Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FBXW10Shared pathway100%FBXO46Shared pathway100%FBXO25Shared pathway100%FBXO24Shared pathway100%FBXO42Shared pathway100%FBXO34Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
0%
Heart
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
FBXO47FBXW10FBXO46FBXO25FBXO24FBXO42FBXO34
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5MNV8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.38–0.81]
RankingsWhere FBXO47 stands among ~20K protein-coding genes
  • #17,591of 20,598
    Most Researched8
  • #6,871of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedFBXO47
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Molecular cloning and characterization of FBXO47, a novel gene containing an F-box domain, located in the 17q12 band deleted in papillary renal cell carcinoma.
PMID: 15723337
Genes Chromosomes Cancer · 2005
1.00
2
SCF ubiquitin E3 ligase regulates DNA double-strand breaks in early meiotic recombination.
PMID: 35489071
Nucleic Acids Res · 2022
0.90
3
FBXO47 regulates centromere pairing as key component of centromeric SCF E3 ligase in mouse spermatocytes.
PMID: 39244596
Commun Biol · 2024
0.80
4
GABPB1-AS1 acts as a tumor suppressor and inhibits non-small cell lung cancer progression by targeting miRNA-566/F-box protein 47.
PMID: 37304650
Oncol Res · 2021
0.70
5
Analysis of GWAS-linked variants in multiple system atrophy.
PMID: 29661569
Neurobiol Aging · 2018
0.60