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FBXO11 F-box protein 11 [ Homo sapiens (human) ]

Gene ID: 80204, updated on 10-Dec-2024

Summary

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Official Symbol
FBXO11provided by HGNC
Official Full Name
F-box protein 11provided by HGNC
Primary source
HGNC:HGNC:13590
See related
Ensembl:ENSG00000138081 MIM:607871; AllianceGenome:HGNC:13590
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UBR6; VIT1; FBX11; PRMT9; IDDFBA; UG063H01
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 26.4), brain (RPKM 21.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See FBXO11 in Genome Data Viewer
Location:
2p16.3
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (47806920..47906498, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (47812869..47912466, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (48034059..48133637, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374589 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:48008525-48008706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11469 Neighboring gene mutS homolog 6 Neighboring gene ribosomal protein L36a pseudogene 15 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15743 Neighboring gene Sharpr-MPRA regulatory region 9679 Neighboring gene RPS27A pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:48129098-48129367 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:48131440-48132226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11470 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11471 Neighboring gene uncharacterized LOC100506235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11473 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:48133799-48134583 Neighboring gene uncharacterized LOC105374590 Neighboring gene uncharacterized LOC105374592

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. Jansen S, et al. Eur J Hum Genet, 2019 May. PMID 30679813, Free PMC Article
  2. FBXO11 is a candidate tumor suppressor in the leukemic transformation of myelodysplastic syndrome. Schieber M, et al. Blood Cancer J, 2020 Oct 6. PMID 33024076, Free PMC Article
  3. The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant. Lee CG, et al. Am J Med Genet A, 2020 Nov. PMID 32902151
  4. FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals. Pan X, et al. J Hum Genet, 2024 Aug. PMID 38740982
  5. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Gregor A, et al. Hum Mol Genet, 2022 Feb 3. PMID 34505148, Free PMC Article

See all (110) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals.
    Title: FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals.
  2. FBXO11 constitutes a major negative regulator of MHC class II through ubiquitin-dependent proteasomal degradation of CIITA.
    Title: FBXO11 constitutes a major negative regulator of MHC class II through ubiquitin-dependent proteasomal degradation of CIITA.
  3. FBXO11 governs macrophage cell death and inflammation in response to bacterial toxins.
    Title: FBXO11 governs macrophage cell death and inflammation in response to bacterial toxins.
  4. FBXO11 amplifies type I interferon signaling to exert antiviral effects by facilitating the assemble of TRAF3-TBK1-IRF3 complex.
    Title: FBXO11 amplifies type I interferon signaling to exert antiviral effects by facilitating the assemble of TRAF3-TBK1-IRF3 complex.
  5. Ultrasound-targeted microbubble destruction-mediated silencing of FBXO11 suppresses development of pancreatic cancer.
    Title: Ultrasound-targeted microbubble destruction-mediated silencing of FBXO11 suppresses development of pancreatic cancer.
  6. De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
    Title: De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
  7. Frequent mutations of FBXO11 highlight BCL6 as a therapeutic target in Burkitt lymphoma.
    Title: Frequent mutations of FBXO11 highlight BCL6 as a therapeutic target in Burkitt lymphoma.
  8. The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.
    Title: The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant.
  9. FBXO11 is a candidate tumor suppressor in the leukemic transformation of myelodysplastic syndrome.
    Title: FBXO11 is a candidate tumor suppressor in the leukemic transformation of myelodysplastic syndrome.
  10. FBXO11-mediated proteolysis of BAHD1 relieves PRC2-dependent transcriptional repression in erythropoiesis.
    Title: FBXO11-mediated proteolysis of BAHD1 relieves PRC2-dependent transcriptional repression in erythropoiesis.
Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
MedGen: C4748135 OMIM: 618089 GeneReviews: Not available
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EBI GWAS Catalog

Description
A comprehensive family-based replication study of schizophrenia genes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Depletion of F-box protein 11 (FBXO11) by siRNA enhances HIV-1 Tat activation of HIV-1 LTR, which is not the results of increased Tat expression and release of CDK9/CCNT1 from 7SK snRNP, and activation of NF-kappaB PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12673, MGC44383

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-arginine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin-like ligase-substrate adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin-protein transferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in negative regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein modification process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
  
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ubiquitin-dependent protein catabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ubiquitin ligase complex NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
F-box only protein 11
Names
protein arginine N-methyltransferase 9
ubiquitin protein ligase E3 component n-recognin 6
vitiligo-associated protein 1
vitiligo-associated protein VIT-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008397.1 RefSeqGene

    Range
    4178..103756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190274.2 → NP_001177203.1  F-box only protein 11 isoform 4

    See identical proteins and their annotated locations for NP_001177203.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting isoform (4) has a distinct and longer N-terminus, compared to isoform 1.
    Source sequence(s)
    AC006509, AC079807, AI879484, AY827075, DN994547
    Consensus CDS
    CCDS54357.1
    UniProtKB/Swiss-Prot
    A1L491, Q52ZP1, Q53EP7, Q53RT5, Q86XK2, Q8IXG3, Q96E90, Q9H6V8, Q9H9L1, Q9NR14, Q9UFK1, Q9UHI1, Q9UKC2
    UniProtKB/TrEMBL
    B4E272
    Related
    ENSP00000384823.4, ENST00000403359.8
    Conserved Domains (3) summary
    pfam12937
    Location:157 → 200
    F-box-like
    pfam13229
    Location:664 → 823
    Beta_helix; Right handed beta helix region
    cl19744
    Location:850 → 891
    zf-UBR; Putative zinc finger in N-recognin (UBR box)

  2. NM_001374325.1 → NP_001361254.1  F-box only protein 11 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC006509, AC079807
    Consensus CDS
    CCDS1837.1
    UniProtKB/TrEMBL
    B4E272
    Related
    ENST00000682975.1
    Conserved Domains (3) summary
    pfam12937
    Location:73 → 116
    F-box-like
    pfam13229
    Location:580 → 739
    Beta_helix; Right handed beta helix region
    cl19744
    Location:766 → 807
    zf-UBR; Putative zinc finger in N-recognin (UBR box)

  3. NM_025133.4 → NP_079409.3  F-box only protein 11 isoform 1

    See identical proteins and their annotated locations for NP_079409.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AC006509, AC079807, AI879484, AK315108
    Consensus CDS
    CCDS1837.1
    UniProtKB/TrEMBL
    B4E272
    Related
    ENSP00000385398.1, ENST00000402508.5
    Conserved Domains (3) summary
    pfam12937
    Location:73 → 116
    F-box-like
    pfam13229
    Location:580 → 739
    Beta_helix; Right handed beta helix region
    cl19744
    Location:766 → 807
    zf-UBR; Putative zinc finger in N-recognin (UBR box)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    47806920..47906498 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005015.2 → XP_016860504.1  F-box only protein 11 isoform X3

    UniProtKB/TrEMBL
    B4E272
    Conserved Domains (3) summary
    pfam12937
    Location:156 → 199
    F-box-like
    pfam13229
    Location:663 → 822
    Beta_helix; Right handed beta helix region
    cl19744
    Location:849 → 890
    zf-UBR; Putative zinc finger in N-recognin (UBR box)

  2. XM_005264573.6 → XP_005264630.1  F-box only protein 11 isoform X2

    UniProtKB/TrEMBL
    B4E272
    Conserved Domains (4) summary
    TIGR03804
    Location:526 → 568
    para_beta_helix; parallel beta-helix repeat (two copies)
    pfam12937
    Location:156 → 201
    F-box-like; F-box-like
    pfam13229
    Location:663 → 822
    Beta_helix; Right handed beta helix region
    cl19744
    Location:849 → 917
    zf-UBR; Putative zinc finger in N-recognin (UBR box)

  3. XM_005264572.6 → XP_005264629.1  F-box only protein 11 isoform X1

    UniProtKB/TrEMBL
    B4E272
    Conserved Domains (4) summary
    TIGR03804
    Location:527 → 569
    para_beta_helix; parallel beta-helix repeat (two copies)
    pfam12937
    Location:157 → 202
    F-box-like; F-box-like
    pfam13229
    Location:664 → 823
    Beta_helix; Right handed beta helix region
    cl19744
    Location:850 → 918
    zf-UBR; Putative zinc finger in N-recognin (UBR box)

  4. XM_047445922.1 → XP_047301878.1  F-box only protein 11 isoform X7

    UniProtKB/TrEMBL
    B4E272

  5. XM_017005016.3 → XP_016860505.1  F-box only protein 11 isoform X4

    UniProtKB/TrEMBL
    A0A804HK63, B4E272
    Conserved Domains (4) summary
    TIGR03804
    Location:443 → 485
    para_beta_helix; parallel beta-helix repeat (two copies)
    pfam12937
    Location:73 → 118
    F-box-like; F-box-like
    pfam13229
    Location:580 → 739
    Beta_helix; Right handed beta helix region
    cl19744
    Location:766 → 834
    zf-UBR; Putative zinc finger in N-recognin (UBR box)

  6. XM_047445921.1 → XP_047301877.1  F-box only protein 11 isoform X6

    UniProtKB/TrEMBL
    B4E272

  7. XM_047445920.1 → XP_047301876.1  F-box only protein 11 isoform X5

    UniProtKB/TrEMBL
    B4E272

  8. XM_047445919.1 → XP_047301875.1  F-box only protein 11 isoform X4

    UniProtKB/TrEMBL
    A0A804HK63, B4E272
    Related
    ENSP00000507789.1, ENST00000683894.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    47812869..47912466 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344043.1 → XP_054200018.1  F-box only protein 11 isoform X3

    UniProtKB/TrEMBL
    B4E272

  2. XM_054344042.1 → XP_054200017.1  F-box only protein 11 isoform X2

    UniProtKB/TrEMBL
    B4E272

  3. XM_054344041.1 → XP_054200016.1  F-box only protein 11 isoform X1

    UniProtKB/TrEMBL
    B4E272

  4. XM_054344048.1 → XP_054200023.1  F-box only protein 11 isoform X7

    UniProtKB/TrEMBL
    B4E272

  5. XM_054344044.1 → XP_054200019.1  F-box only protein 11 isoform X4

    UniProtKB/TrEMBL
    A0A804HK63, B4E272

  6. XM_054344047.1 → XP_054200022.1  F-box only protein 11 isoform X6

    UniProtKB/TrEMBL
    B4E272

  7. XM_054344046.1 → XP_054200021.1  F-box only protein 11 isoform X5

    UniProtKB/TrEMBL
    B4E272

  8. XM_054344045.1 → XP_054200020.1  F-box only protein 11 isoform X4

    UniProtKB/TrEMBL
    A0A804HK63, B4E272

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_012167.1: Suppressed sequence

    Description
    NM_012167.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_018693.2: Suppressed sequence

    Description
    NM_018693.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86XK2.3 GenPept UniProtKB/Swiss-Prot:Q86XK2

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