U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 84961, updated on 3-Apr-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
17q12
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39252663..39402556, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40116582..40266468, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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. 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
  4. 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
  5. FBXL20 promotes breast cancer malignancy by inhibiting apoptosis through degradation of PUMA and BAX. Manne RK, et al. J Biol Chem, 2021 Oct. PMID 34587475, Free PMC Article

See all (23) 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
F-box/LRR-repeat protein 20
Names
F-box protein FBL2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous