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    FBXL6 F-box and leucine rich repeat protein 6 [ Homo sapiens (human) ]

    Gene ID: 26233, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FBXL6provided by HGNC
    Official Full Name
    F-box and leucine rich repeat protein 6provided by HGNC
    Primary source
    HGNC:HGNC:13603
    See related
    Ensembl:ENSG00000182325 MIM:609076; AllianceGenome:HGNC:13603
    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
    FBL6; FBL6A; PP14630
    Summary
    This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in duodenum (RPKM 10.9), small intestine (RPKM 7.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FBXL6 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144355431..144358472, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145524060..145527101, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145579091..145582132, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145555531-145556238 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145556239-145556947 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:145556948-145557655 Neighboring gene scratch family transcriptional repressor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145558559-145559174 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145559298-145559484 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145566939-145567080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19675 Neighboring gene transmembrane protein 249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145579988-145580524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145583746-145584281 Neighboring gene solute carrier family 52 member 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:145589246-145589414 Neighboring gene uncharacterized LOC101928902 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:145593027-145593528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:145595436-145595936

    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. FBXL6 is dysregulated in keloids and promotes keloid fibroblast growth by inducing c-Myc expression. Feng G, et al. Int Wound J, 2023 Jan. PMID 35606330, Free PMC Article
    2. FBXL6 degrades phosphorylated p53 to promote tumor growth. Li Y, et al. Cell Death Differ, 2021 Jul. PMID 33568778, Free PMC Article
    3. FBXL6 governs c-MYC to promote hepatocellular carcinoma through ubiquitination and stabilization of HSP90AA1. Shi W, et al. Cell Commun Signal, 2020 Jun 23. PMID 32576198, Free PMC Article
    4. A Multidimensional Characterization of E3 Ubiquitin Ligase and Substrate Interaction Network. Chen D, et al. iScience, 2019 Jun 28. PMID 31181401, Free PMC Article
    5. Downregulation of vertebrate Tel (ETV6) and Drosophila Yan is facilitated by an evolutionarily conserved mechanism of F-box-mediated ubiquitination. Roukens MG, et al. Mol Cell Biol, 2008 Jul. PMID 18426905, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.
      Title: The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.
    2. FBXL6 is dysregulated in keloids and promotes keloid fibroblast growth by inducing c-Myc expression.
      Title: FBXL6 is dysregulated in keloids and promotes keloid fibroblast growth by inducing c-Myc expression.
    3. FBXL6 degrades phosphorylated p53 to promote tumor growth.
      Title: FBXL6 degrades phosphorylated p53 to promote tumor growth.
    4. FBXL6 governs c-MYC to promote hepatocellular carcinoma through ubiquitination and stabilization of HSP90AA1.
      Title: FBXL6 governs c-MYC to promote hepatocellular carcinoma through ubiquitination and stabilization of HSP90AA1.
    5. Fbl6 regulates Tel/Yan protein stability and allows appropriate spatiotemporal control of gene expression by these repressors.
      Title: Downregulation of vertebrate Tel (ETV6) and Drosophila Yan is facilitated by an evolutionarily conserved mechanism of F-box-mediated ubiquitination.
    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity TAS
    Traceable Author Statement
    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 proteolysis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of SCF ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    F-box/LRR-repeat protein 6
    Names
    F-box protein Fbl6

    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_012162.4 → NP_036294.2  F-box/LRR-repeat protein 6 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC233992, BC033066, BM761056
      Consensus CDS
      CCDS6422.1
      UniProtKB/Swiss-Prot
      Q53G43, Q8N531, Q9H5W9, Q9UKC7
      Related
      ENSP00000330098.5, ENST00000331890.6
      Conserved Domains (3) summary
      cd09293
      Location:185 → 398
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:196 → 221
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:113 → 163
      F-box-like; F-box-like

    2. NM_024555.6 → NP_078831.4  F-box/LRR-repeat protein 6 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC233992, AK026541
      Consensus CDS
      CCDS47942.1
      UniProtKB/Swiss-Prot
      Q8N531
      Related
      ENSP00000403873.2, ENST00000455319.6
      Conserved Domains (3) summary
      cd09293
      Location:188 → 392
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:185 → 215
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:113 → 163
      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      144355431..144358472 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654716.1 Reference GRCh38.p14 PATCHES

      Range
      86034..89075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      145524060..145527101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N531.2 GenPept UniProtKB/Swiss-Prot:Q8N531

    Gene LinkOut

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

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