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

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; 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

Location:: 2p16.3

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (47806920..47906498, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (47812869..47912466, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (48034059..48133637, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
Long non-coding RNA NNT-AS1 regulates proliferation, apoptosis, inflammation and airway remodeling of chronic obstructive pulmonary disease via targeting miR-582-5p/FBXO11 axis.
Title: Long non-coding RNA NNT-AS1 regulates proliferation, apoptosis, inflammation and airway remodeling of chronic obstructive pulmonary disease via targeting miR-582-5p/FBXO11 axis.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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	Compare labs

EBI GWAS Catalog

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

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

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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

RH75921 (e-PCR)
- UniSTS:88625

G67493 (e-PCR)
- UniSTS:186711

RH77959 (e-PCR)
- UniSTS:41088

RH126790 (e-PCR)
- UniSTS:209350

FBXO11_633 (e-PCR)
- UniSTS:277228

FBXO11_V32 (e-PCR)
- UniSTS:277228

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-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 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
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

NG_008397.1 RefSeqGene

Range

4178..103756

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

47806920..47906498 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)
XM_047445922.1 → XP_047301878.1 F-box only protein 11 isoform X7
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)
XM_047445921.1 → XP_047301877.1 F-box only protein 11 isoform X6
XM_047445920.1 → XP_047301876.1 F-box only protein 11 isoform X5
XM_047445919.1 → XP_047301875.1 F-box only protein 11 isoform X4

UniProtKB/TrEMBL

A0A804HK63

Related

ENSP00000507789.1, ENST00000683894.1

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

47812869..47912466 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054344043.1 → XP_054200018.1 F-box only protein 11 isoform X3
XM_054344042.1 → XP_054200017.1 F-box only protein 11 isoform X2
XM_054344041.1 → XP_054200016.1 F-box only protein 11 isoform X1
XM_054344048.1 → XP_054200023.1 F-box only protein 11 isoform X7
XM_054344044.1 → XP_054200019.1 F-box only protein 11 isoform X4

UniProtKB/TrEMBL

A0A804HK63
XM_054344047.1 → XP_054200022.1 F-box only protein 11 isoform X6
XM_054344046.1 → XP_054200021.1 F-box only protein 11 isoform X5
XM_054344045.1 → XP_054200020.1 F-box only protein 11 isoform X4

UniProtKB/TrEMBL

A0A804HK63

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.