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    FBXL17 F-box and leucine rich repeat protein 17 [ Homo sapiens (human) ]

    Gene ID: 64839, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FBXL17provided by HGNC
    Official Full Name
    F-box and leucine rich repeat protein 17provided by HGNC
    Primary source
    HGNC:HGNC:13615
    See related
    Ensembl:ENSG00000145743 MIM:609083; AllianceGenome:HGNC:13615
    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
    Fbl17; Fbx13; FBXO13
    Summary
    Members of the F-box protein family, such as FBXL17, 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 thyroid (RPKM 4.5), brain (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXL17 in Genome Data Viewer
    Location:
    5q21.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (107859035..108382098, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (108361407..108884649, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (107194736..107717799, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901039 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16217 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:107144233-107144754 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr5:107144755-107145277 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:107145278-107145799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22872 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22874 Neighboring gene RN7SK pseudogene 122 Neighboring gene VISTA enhancer hs1345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22875 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:107413858-107414740 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:107451090-107451859 Neighboring gene Sharpr-MPRA regulatory region 7585 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:107548797-107549630 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:107547963-107548796 Neighboring gene Sharpr-MPRA regulatory region 5089 Neighboring gene MPRA-validated peak5404 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16220 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22876 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:107734886-107735518 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:107753479-107753980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:107772642-107773142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:107773143-107773643 Neighboring gene uncharacterized LOC105379114 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:107889945-107890706 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:107890707-107891467 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:107895154-107895781 Neighboring gene NANOG hESC enhancer GRCh37_chr5:107900026-107900717 Neighboring gene ribosomal protein S20 pseudogene 3

    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. Identification of F-box/LLR-repeated protein 17 as potential useful biomarker for breast cancer therapy. Xiao GG, et al. Cancer Genomics Proteomics, 2008 May-Aug. PMID 18820369
    2. Structural basis for dimerization quality control. Mena EL, et al. Nature, 2020 Oct. PMID 32814905, Free PMC Article
    3. Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations. Candille SI, et al. PLoS One, 2012. PMID 23118974, Free PMC Article
    4. Lipopolysaccharide modulates p300 and Sirt1 to promote PRMT1 stability via an SCF(Fbxl17)-recognized acetyldegron. Lai Y, et al. J Cell Sci, 2017 Oct 15. PMID 28883095, Free PMC Article
    5. FBXL17/spastin axis as a novel therapeutic target of hereditary spastic paraplegia. Kang HM, et al. Cell Biosci, 2022 Jul 22. PMID 35869491, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural basis for dimerization quality control.
      Title: Structural basis for dimerization quality control.
    2. Rearrangements of Fbxl17 in breast cancer affect its ability to bind substrates and to assemble as part of a functional SCF ubiquitin ligase complex.
      Title: Fbxl17 is rearranged in breast cancer and loss of its activity leads to increased global O-GlcNAcylation.
    3. In summary, these findings reveal Fbxl17 as a novel regulator of the Hedgehog signaling pathway and highlight the perturbation of the Fbxl17-Sufu axis in the pathogenesis of medulloblastoma.
      Title: SCF (Fbxl17) ubiquitylation of Sufu regulates Hedgehog signaling and medulloblastoma development.
    4. Identify a role for SCF(FBXL17) in controlling the threshold for NRF2-dependent gene activation via BACH1 repressor turnover.
      Title: Parallel SCF adaptor capture proteomics reveals a role for SCFFBXL17 in NRF2 activation via BACH1 repressor turnover.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Replication of previous genome-wide association studies of bone mineral density in premenopausal American women.
    7. F-box protein 17 (FBXL17) can serve as a therapeutic target and surrogate marker for breast cancer therapy.
      Title: Identification of F-box/LLR-repeated protein 17 as potential useful biomarker for breast cancer therapy.
    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
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.
    EBI GWAS Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    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)

    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

    • MGC161422, MGC161424, DKFZp434C1715

    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 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neural crest cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein quality control for misfolded or incompletely synthesized proteins IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    F-box/LRR-repeat protein 17
    Names
    F-box only protein 13

    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_001163315.3 → NP_001156787.2  F-box/LRR-repeat protein 17

      See identical proteins and their annotated locations for NP_001156787.2

      Status: VALIDATED

      Source sequence(s)
      AC008462, AC008513, AC011419, AC092274
      Consensus CDS
      CCDS54886.1
      UniProtKB/Swiss-Prot
      A1A4E3, Q9UF56
      Related
      ENSP00000437464.2, ENST00000542267.7
      Conserved Domains (3) summary
      cd09293
      Location:411 → 573
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:362 → 387
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:321 → 368
      F-box-like; 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      107859035..108382098 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272048.5 → XP_005272105.1  F-box/LRR-repeat protein 17 isoform X1

      Conserved Domains (3) summary
      cd09293
      Location:411 → 573
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:362 → 387
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:321 → 368
      F-box-like; F-box-like

    2. XM_011543574.4 → XP_011541876.1  F-box/LRR-repeat protein 17 isoform X2

      Conserved Domains (3) summary
      cd09293
      Location:411 → 573
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:362 → 387
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:321 → 368
      F-box-like; F-box-like

    3. XM_011543575.3 → XP_011541877.1  F-box/LRR-repeat protein 17 isoform X3

      Conserved Domains (3) summary
      cd09293
      Location:411 → 573
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:362 → 387
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:321 → 368
      F-box-like; F-box-like

    4. XM_011543578.3 → XP_011541880.1  F-box/LRR-repeat protein 17 isoform X6

      Conserved Domains (3) summary
      cd09293
      Location:411 → 573
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:362 → 387
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:321 → 368
      F-box-like; F-box-like

    5. XM_011543577.3 → XP_011541879.1  F-box/LRR-repeat protein 17 isoform X5

      Conserved Domains (3) summary
      cd09293
      Location:411 → 588
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:362 → 387
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:321 → 368
      F-box-like; F-box-like

    6. XM_011543576.4 → XP_011541878.1  F-box/LRR-repeat protein 17 isoform X4

      Conserved Domains (3) summary
      cd09293
      Location:411 → 585
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:362 → 387
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:321 → 368
      F-box-like; F-box-like

    7. XM_017009729.3 → XP_016865218.1  F-box/LRR-repeat protein 17 isoform X7

    8. XM_005272050.5 → XP_005272107.1  F-box/LRR-repeat protein 17 isoform X9

      Conserved Domains (2) summary
      cd09293
      Location:319 → 497
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:362 → 387
      LRR_AMN1; leucine-rich repeat [structural motif]

    9. XM_011543580.3 → XP_011541882.1  F-box/LRR-repeat protein 17 isoform X8

      See identical proteins and their annotated locations for XP_011541882.1

      Conserved Domains (2) summary
      cd09293
      Location:319 → 497
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:362 → 387
      LRR_AMN1; leucine-rich repeat [structural motif]

    10. XM_011543579.3 → XP_011541881.1  F-box/LRR-repeat protein 17 isoform X8

      See identical proteins and their annotated locations for XP_011541881.1

      Conserved Domains (2) summary
      cd09293
      Location:319 → 497
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:362 → 387
      LRR_AMN1; leucine-rich repeat [structural motif]

    RNA

    1. XR_427717.4 RNA Sequence

    2. XR_007058627.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      108361407..108884649 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353144.1 → XP_054209119.1  F-box/LRR-repeat protein 17 isoform X1

    2. XM_054353145.1 → XP_054209120.1  F-box/LRR-repeat protein 17 isoform X2

    3. XM_054353146.1 → XP_054209121.1  F-box/LRR-repeat protein 17 isoform X3

    4. XM_054353149.1 → XP_054209124.1  F-box/LRR-repeat protein 17 isoform X6

    5. XM_054353148.1 → XP_054209123.1  F-box/LRR-repeat protein 17 isoform X5

    6. XM_054353147.1 → XP_054209122.1  F-box/LRR-repeat protein 17 isoform X4

    7. XM_054353150.1 → XP_054209125.1  F-box/LRR-repeat protein 17 isoform X7

    8. XM_054353151.1 → XP_054209126.1  F-box/LRR-repeat protein 17 isoform X9

    RNA

    1. XR_008487150.1 RNA Sequence

    2. XR_008487149.1 RNA Sequence

    3. XR_008487148.1 RNA Sequence

    4. XR_008487147.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022824.1: Suppressed sequence

      Description
      NM_022824.1: This RefSeq was permanently suppressed because the CDS was partial.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UF56.3 GenPept UniProtKB/Swiss-Prot:Q9UF56

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