FBXL3
F-box/LRR-repeat protein 3
Also known as: FBL3, FBL3A, FBXL3_HUMAN, FBXL3A
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UKT7
- Gene
- FBXL3
- Ensembl
- ENSG00000005812
- Chromosome
- 13
- Canonical length
- 428 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nuclear bodies
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 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 Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
428 residues, UniProt reviewed canonical sequence.
>Q9UKT7|FBXL3
1 MKRGGRDSDR NSSEEGTAEK SKKLRTTNEH SQTCDWGNLL QDIILQVFKY LPLLDRAHAS
61 QVCRNWNQVF HMPDLWRCFE FELNQPATSY LKATHPELIK QIIKRHSNHL QYVSFKVDSS
121 KESAEAACDI LSQLVNCSLK TLGLISTARP SFMDLPKSHF ISALTVVFVN SKSLSSLKID
181 DTPVDDPSLK VLVANNSDTL KLLKMSSCPH VSPAGILCVA DQCHGLRELA LNYHLLSDEL
241 LLALSSEKHV RLEHLRIDVV SENPGQTHFH TIQKSSWDAF IRHSPKVNLV MYFFLYEEEF
301 DPFFRYEIPA THLYFGRSVS KDVLGRVGMT CPRLVELVVC ANGLRPLDEE LIRIAERCKN
361 LSAIGLGECE VSCSAFVEFV KMCGGRLSQL SIMEEVLIPD QKYSLEQIHW EVSKHLGRVW
421 FPDMMPTWLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FBXL3 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)
- 0.28
- Highest tissue expression
- 65 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 65 nTPM
- blood vessel: 52 nTPM
- thyroid gland: 45 nTPM
- adipose tissue: 43 nTPM
- ovary: 41 nTPM
- breast: 40 nTPM
Single-cell type
- cardiomyocytes: 168 nCPM
- neutrophils: 164 nCPM
- neutrophil progenitors: 138 nCPM
- vascular smooth muscle cells: 96 nCPM
- peritubular myoid cells: 90 nCPM
- pericytes: 85 nCPM
Immune cell
- basophil: 8 nTPM
- neutrophil: 5.2 nTPM
- T-reg: 5.1 nTPM
- eosinophil: 4.6 nTPM
- naive CD4 T-cell: 4.5 nTPM
- memory CD4 T-cell: 3.8 nTPM
Brain region
- white matter: 56 nTPM
- cerebellum: 48 nTPM
- basal ganglia: 41 nTPM
- spinal cord: 38 nTPM
- medulla oblongata: 37 nTPM
- amygdala: 37 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FBXL3.
Disease | AllUniProt
Conditions FBXL3 is implicated in, by any mechanism.
- Intellectual developmental disorder with short stature, facial anomalies, and speech defects (IDDSFAS) MIM:606220
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 46 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual disability, short stature, facial anomalies, and joint dislocations
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)
- 0.29
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 2.83
- DepMap mean gene effect
- -0.04
- 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
- entrainment of circadian clock by photoperiod
- protein destabilization
- protein ubiquitination
- regulation of circadian rhythm
- rhythmic process
- SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FBXL3 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 FBXL3 as an antibody target. Whether an autoantibody or antibody against FBXL3 could matter depends on whether native FBXL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FBXL3 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 FBXL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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