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

Gene ID: 80204, updated on 7-Apr-2019

Summary

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
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

Genomic context

See FBXO11 in Genome Data Viewer
Location:
2p16.3
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (47806920..47905793, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (48034059..48133524, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374589 Neighboring gene mutS homolog 6 Neighboring gene ribosomal protein L36a pseudogene 15 Neighboring gene ribosomal protein S27a pseudogene 7 Neighboring gene uncharacterized LOC100506235 Neighboring gene uncharacterized LOC105374590

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
MedGen: CN252702 OMIM: 618089 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A comprehensive family-based replication study of schizophrenia genes.
NHGRI GWA Catalog

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12673, MGC44383

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-arginine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity NAS
Non-traceable Author Statement
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular protein modification process IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-arginine N-methylation IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
protein ubiquitination NAS
Non-traceable Author Statement
more info
PubMed 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chromosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin ligase complex NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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)

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
    21957..103756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190274.1NP_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, AI879484, AY827075, DN994547
    Consensus CDS
    CCDS54357.1
    UniProtKB/Swiss-Prot
    Q86XK2
    Related
    ENSP00000384823.3, ENST00000403359.7
    Conserved Domains (3) summary
    pfam12937
    Location:157200
    F-box-like; F-box-like
    pfam13229
    Location:664809
    Beta_helix; Right handed beta helix region
    cl19744
    Location:850891
    zf-UBR; Putative zinc finger in N-recognin (UBR box)
  2. NM_025133.4NP_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/Swiss-Prot
    Q86XK2
    Related
    ENSP00000385398.1, ENST00000402508.5
    Conserved Domains (3) summary
    pfam12937
    Location:73116
    F-box-like; F-box-like
    pfam13229
    Location:580725
    Beta_helix; Right handed beta helix region
    cl19744
    Location:766807
    zf-UBR; Putative zinc finger in N-recognin (UBR box)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    47806920..47905793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264572.5XP_005264629.1  F-box only protein 11 isoform X2

    UniProtKB/Swiss-Prot
    Q86XK2
    Conserved Domains (4) summary
    TIGR03804
    Location:527569
    para_beta_helix; parallel beta-helix repeat (two copies)
    pfam12937
    Location:157202
    F-box-like; F-box-like
    pfam13229
    Location:664823
    Beta_helix; Right handed beta helix region
    cl19744
    Location:850918
    zf-UBR; Putative zinc finger in N-recognin (UBR box)
  2. XM_005264573.5XP_005264630.1  F-box only protein 11 isoform X1

    Conserved Domains (4) summary
    TIGR03804
    Location:526568
    para_beta_helix; parallel beta-helix repeat (two copies)
    pfam12937
    Location:156201
    F-box-like; F-box-like
    pfam13229
    Location:663822
    Beta_helix; Right handed beta helix region
    cl19744
    Location:849917
    zf-UBR; Putative zinc finger in N-recognin (UBR box)
  3. XM_017005017.1XP_016860506.1  F-box only protein 11 isoform X5

    UniProtKB/Swiss-Prot
    Q86XK2
    Conserved Domains (3) summary
    pfam12937
    Location:73116
    F-box-like; F-box-like
    pfam13229
    Location:580725
    Beta_helix; Right handed beta helix region
    cl19744
    Location:766807
    zf-UBR; Putative zinc finger in N-recognin (UBR box)
  4. XM_017005016.2XP_016860505.1  F-box only protein 11 isoform X4

    Conserved Domains (4) summary
    TIGR03804
    Location:443485
    para_beta_helix; parallel beta-helix repeat (two copies)
    pfam12937
    Location:73118
    F-box-like; F-box-like
    pfam13229
    Location:580739
    Beta_helix; Right handed beta helix region
    cl19744
    Location:766834
    zf-UBR; Putative zinc finger in N-recognin (UBR box)
  5. XM_017005015.1XP_016860504.1  F-box only protein 11 isoform X3

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.
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