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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    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_001184906.2NP_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:188362
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:119138
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:2869
      F-box-like
    2. NM_001370208.3NP_001357137.2  F-box/LRR-repeat protein 20 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005288, AC015910
      UniProtKB/TrEMBL
      B3KVQ0, J3KTA1
      Related
      ENSP00000462878.1, ENST00000577399.5
    3. NM_001370209.3NP_001357138.2  F-box/LRR-repeat protein 20 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005288, AC015910
      UniProtKB/TrEMBL
      B3KVQ0
    4. NM_032875.3NP_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:220394
      AMN1; Antagonist of mitotic exit network protein 1
      sd00034
      Location:119144
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:2869
      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_047436952.1XP_047292908.1  F-box/LRR-repeat protein 20 isoform X1

      UniProtKB/TrEMBL
      B3KVQ0
    2. XM_047436951.1XP_047292907.1  F-box/LRR-repeat protein 20 isoform X1

      UniProtKB/TrEMBL
      B3KVQ0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40116582..40266468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)