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

Gene ID: 26233, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144355431..144358472, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145524060..145527101, complement)
105.20220307 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 (28) 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)

Genotypes

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 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_2023_10

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

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