FBXO11

Protein identityUniProt · HPA

UniProt accession

Q86XK2

Gene

FBXO11

Ensembl

ENSG00000138081

Chromosome

2

Canonical length

927 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli

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 Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]

Canonical amino-acid sequenceUniProt

927 residues, UniProt reviewed canonical sequence.

>Q86XK2|FBXO11
     1  MNSVRAANRR PRRVSRPRPV QQQQQQPPQQ PPPQPPQQQP PQQQPPPPPQ QQQQQQPPPP
    61  PPPPPPLPQE RNNVGERDDD VPADMVAEES GPGAQNSPYQ LRRKTLLPKR TACPTKNSME
   121  GASTSTTENF GHRAKRARVS GKSQDLSAAP AEQYLQEKLP DEVVLKIFSY LLEQDLCRAA
   181  CVCKRFSELA NDPILWKRLY MEVFEYTRPM MHPEPGKFYQ INPEEYEHPN PWKESFQQLY
   241  KGAHVKPGFA EHFYSNPARY KGRENMLYYD TIEDALGGVQ EAHFDGLIFV HSGIYTDEWI
   301  YIESPITMIG AAPGKVADKV IIENTRDSTF VFMEGSEDAY VGYMTIRFNP DDKSAQHHNA
   361  HHCLEITVNC SPIIDHCIIR STCTVGSAVC VSGQGACPTI KHCNISDCEN VGLYITDHAQ
   421  GIYEDNEISN NALAGIWVKN HGNPIIRRNH IHHGRDVGVF TFDHGMGYFE SCNIHRNRIA
   481  GFEVKAYANP TVVRCEIHHG QTGGIYVHEK GRGQFIENKI YANNFAGVWI TSNSDPTIRG
   541  NSIFNGNQGG VYIFGDGRGL IEGNDIYGNA LAGIQIRTNS CPIVRHNKIH DGQHGGIYVH
   601  EKGQGVIEEN EVYSNTLAGV WVTTGSTPVL RRNRIHSGKQ VGVYFYDNGH GVLEDNDIYN
   661  HMYSGVQIRT GSNPKIRRNK IWGGQNGGIL VYNSGLGCIE DNEIFDNAMA GVWIKTDSNP
   721  TLRRNKIHDG RDGGICIFNG GRGLLEENDI FRNAQAGVLI STNSHPILRK NRIFDGFAAG
   781  IEITNHATAT LEGNQIFNNR FGGLFLASGV NVTMKDNKIM NNQDAIEKAV SRGQCLYKIS
   841  SYTSYPMHDF YRCHTCNTTD RNAICVNCIK KCHQGHDVEF IRHDRFFCDC GAGTLSNPCT
   901  LAGEPTHDTD TLYDSAPPIE SNTLQHN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FBXO11 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)

0.3

Highest tissue expression

37 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FBXO11.

Disease | AllUniProt

Conditions FBXO11 is implicated in, by any mechanism.

• Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) MIM:618089

Disease | GeneticClinVar

149 pathogenic / likely-pathogenic of 1,229 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
• Neurodevelopmental disorder
• Inborn genetic diseases
• FBXO11-related disorder
• See cases

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)

0.1

gnomAD pLI

1

gnomAD missense Z

4.38

DepMap mean gene effect

-0.23

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of epithelial to mesenchymal transition
• proteasome-mediated ubiquitin-dependent protein catabolic process
• protein ubiquitination
• regulation of apoptotic process
• sensory perception of sound
• ubiquitin-dependent protein catabolic process

Molecular functions

• protein-arginine N-methyltransferase activity
• ubiquitin-like ligase-substrate adaptor activity
• ubiquitin-protein transferase activity
• zinc ion binding

Cellular components

• chromosome
• cytoplasm
• cytosol
• nucleolus
• nucleoplasm
• nucleus
• ubiquitin ligase complex

Protein domainsUniProt · Pfam · InterPro

• F-box domain
• Zinc finger, UBR-type
• Parallel beta-helix repeat
• Carbohydrate-binding/sugar hydrolysis domain
• Pectin lyase fold/virulence factor
• Pectin lyase fold
• Parallel beta-helix repeat-2
• F-box-like domain superfamily
• Right handed beta helix domain
• SCF Complex Subunits and Alginate Epimerases
• Putative zinc finger in N-recognin (UBR box)
• F-box-like
• Right handed beta helix region
• F-box only protein 11, UBR-box
• F-box only protein 11, F-box domain

KeywordsUniProt

• Chromosome
• Intellectual disability
• Metal-binding
• Nucleus
• Repeat
• Ubl conjugation pathway
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of FBXO11 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CIITA
• TRAF3
• DDB1
• DTL
• BAHD1
• PRDM1
• BCL6
• SKP1
• TP53