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FBXO11

Chr 2p16.3

F-box protein 11

Aliases:
FBX11, UBR6
MANE:
ENST00000403359.8
OMIM: 607871 ↗NCBI: 80204 ↗Ensembl ↗

Annotations refreshed 8 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Clefting

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • intellectual developmental disorder with dysmorphic facies and behavioral abnormalities

    0.81

  • Lynch syndrome

    0.72

  • endometrial carcinoma

    0.70

  • colon carcinoma

    0.59

  • ovarian cancer

    0.58

  • Inherited cancer-predisposing syndrome

    0.58

  • hereditary neoplastic syndrome

    0.58

  • hereditary nonpolyposis colon cancer

    0.57

  • Constitutional mismatch repair deficiency syndrome

    0.57

  • hereditary nonpolyposis colorectal carcinoma

    0.56

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

F-box only protein 11

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6, SNAI1 and PRDM1/BLIMP1 (PubMed:17098746, PubMed:22113614, PubMed:23478441, PubMed:23478445, PubMed:23892434, PubMed:24613396, PubMed:24968003, PubMed:25827072, PubMed:29059170). The SCF(FBXO11) complex mediates ubiquitination and degradation of BCL6, thereby playing a role in the germinal center B-cells terminal differentiation toward memory B-cells and plasma cells (PubMed:22113614). The SCF(FBXO11) complex also mediates ubiquitination and degradation of DTL, an important step for the regulation of TGF-beta signaling, cell migration and the timing of the cell-cycle progression and exit (PubMed:23478441, PubMed:23478445). The SCF(FBXO11) complex also catalyzes ubiquitination and degradation of GSK3B-phosphorylated SNAI1 (PubMed:25827072, PubMed:29059170). Binds to and neddylates phosphorylated p53/TP53, inhibiting its transcriptional activity (PubMed:17098746). Plays a role in the regulatiom of erythropoiesis but not myelopoiesis or megakaryopoiesis (PubMed:33156908). Mechanistically, activates erythroid genes by mediating the degradation of BAHD1, a heterochromatin-associated protein that recruits corepressors to H3K27me3 marks (PubMed:33156908). Participates in macrophage cell death and inflammation in response to bacterial toxins by regulating the expression of complement 5a receptor 1/C5AR1 and IL-1beta (PubMed:33156908). Acts as a critical regulator to determine the level of MHC-II by mediating the recognition of degron at the P/S/T domain of CIITA leading to its ubiquitination and subsequent degradation via the proteasome (PubMed:37279268). Participates in the antiviral repsonse by initiating the activation of TBK1-IRF3-IFN-I axis (PubMed:36897010). Mediates the 'Lys-63'-linked ubiquitination of TRAF3 to strengthen the interaction between TRAF3 and TBK1 (PubMed:36897010)

Diseases associated with FBXO11

Curated MONDO disease pages that list FBXO11 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.