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    FBXL20 F-box and leucine rich repeat protein 20 [ Homo sapiens (human) ]

    Gene ID: 84961, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FBXL20provided by HGNC
    Official Full Name
    F-box and leucine rich repeat protein 20provided by HGNC
    Primary source
    HGNC:HGNC:24679
    See related
    Ensembl:ENSG00000108306 MIM:609086; AllianceGenome:HGNC:24679
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Fbl2; Fbl20
    Summary
    Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in testis (RPKM 3.5), brain (RPKM 3.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXL20 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39252663..39402556, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40116582..40266468, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37408916..37558809, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37366159-37366825 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37379624-37379793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37381456-37381956 Neighboring gene transcription factor CP2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37400607-37401181 Neighboring gene SH3 and cysteine rich domain 2 Neighboring gene MPRA-validated peak2834 silencer Neighboring gene microRNA 548BC Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:37489325-37489835 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:37493495-37494252 Neighboring gene Sharpr-MPRA regulatory region 12086 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37557132-37557424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8453 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8456 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:37558864-37559028 Neighboring gene mediator complex subunit 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:37618166-37619365 Neighboring gene U6 spliceosomal RNA Neighboring gene cyclin dependent kinase 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Role of FBXL20 in human colorectal adenocarcinoma. Zhu J, et al. Oncol Rep, 2012 Dec. PMID 23023584
    2. FBXL20-mediated ubiquitination triggers the proteasomal degradation of 4-1BB. Sun R, et al. FEBS J, 2022 Aug. PMID 35112462
    3. p53/FBXL20 axis negatively regulates the protein stability of PR55α, a regulatory subunit of PP2A Ser/Thr phosphatase. Madduri LSV, et al. Neoplasia, 2021 Dec. PMID 34731788, Free PMC Article
    4. F-Box and Leucine-Rich Repeat Protein 20 (FBXL20), Negatively Regulated by microRNA (miR)-195-5p, Accelerates the Malignant Progression of Ovarian Cancer. Wu D, et al. Mol Biotechnol, 2021 Dec. PMID 34338995
    5. SP1-induced PROX1-AS1 contributes to tumor progression by regulating miR-326/FBXL20 axis in colorectal cancer. Liu J, et al. Cell Signal, 2023 Jan. PMID 36374774

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SP1-induced PROX1-AS1 contributes to tumor progression by regulating miR-326/FBXL20 axis in colorectal cancer.
      Title: SP1-induced PROX1-AS1 contributes to tumor progression by regulating miR-326/FBXL20 axis in colorectal cancer.
    2. FBXL20-mediated ubiquitination triggers the proteasomal degradation of 4-1BB.
      Title: FBXL20-mediated ubiquitination triggers the proteasomal degradation of 4-1BB.
    3. F-Box and Leucine-Rich Repeat Protein 20 (FBXL20), Negatively Regulated by microRNA (miR)-195-5p, Accelerates the Malignant Progression of Ovarian Cancer.
      Title: F-Box and Leucine-Rich Repeat Protein 20 (FBXL20), Negatively Regulated by microRNA (miR)-195-5p, Accelerates the Malignant Progression of Ovarian Cancer.
    4. FBXL20 promotes breast cancer malignancy by inhibiting apoptosis through degradation of PUMA and BAX.
      Title: FBXL20 promotes breast cancer malignancy by inhibiting apoptosis through degradation of PUMA and BAX.
    5. which provides a signal to promote its ubiquitination and proteasomal degradation mediated by FBXL20 and the associated Skp1-Cullin1 complex, leading to inhibition of autophagy and receptor endocytosis
      Title: FBXL20-mediated Vps34 ubiquitination as a p53 controlled checkpoint in regulating autophagy and receptor degradation.
    6. study concludes FBXL20 plays an essential role in the carcinogenesis of colorectal adenocarcinoma and promotes carcinogenesis through the regulation of the Wnt signaling pathway and caspase activation
      Title: Role of FBXL20 in human colorectal adenocarcinoma.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21037, MGC15482, DKFZp564O2364

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein catabolic process at presynapse, modulating synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of synaptic vesicle exocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    F-box/LRR-repeat protein 20
    Names
    F-box protein FBL2

    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.

    mRNA and Protein(s)

    1. NM_001184906.2 → NP_001171835.1  F-box/LRR-repeat protein 20 isoform 2

      See identical proteins and their annotated locations for NP_001171835.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. The resulting isoform (2) is shorter but has the same N- and C- termini compared to isoform 1.
      Source sequence(s)
      AC015910, DA747594, DQ223959
      Consensus CDS
      CCDS54116.1
      UniProtKB/TrEMBL
      B3KVQ0
      Related
      ENSP00000377832.3, ENST00000394294.7
      Conserved Domains (3) summary
      cd09293
      Location:188 → 362
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:119 → 138
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:28 → 69
      F-box-like

    2. NM_001370208.3 → NP_001357137.2  F-box/LRR-repeat protein 20 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005288, AC015910
      UniProtKB/TrEMBL
      J3KTA1
      Related
      ENSP00000462878.1, ENST00000577399.5

    3. NM_001370209.3 → NP_001357138.2  F-box/LRR-repeat protein 20 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005288, AC015910

    4. NM_032875.3 → NP_116264.2  F-box/LRR-repeat protein 20 isoform 1

      See identical proteins and their annotated locations for NP_116264.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC015910, BC007557, DA747594
      Consensus CDS
      CCDS32640.1
      UniProtKB/Swiss-Prot
      A8K729, Q38J52, Q96IG2
      UniProtKB/TrEMBL
      B3KVQ0
      Related
      ENSP00000264658.6, ENST00000264658.11
      Conserved Domains (3) summary
      cd09293
      Location:220 → 394
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:119 → 144
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:28 → 69
      F-box-like

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      39252663..39402556 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436952.1 → XP_047292908.1  F-box/LRR-repeat protein 20 isoform X1

    2. XM_047436951.1 → XP_047292907.1  F-box/LRR-repeat protein 20 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40116582..40266468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IG2.2 GenPept UniProtKB/Swiss-Prot:Q96IG2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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