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    FBXL3 F-box and leucine rich repeat protein 3 [ Homo sapiens (human) ]

    Gene ID: 26224, updated on 17-Jun-2024

    Summary

    Official Symbol
    FBXL3provided by HGNC
    Official Full Name
    F-box and leucine rich repeat protein 3provided by HGNC
    Primary source
    HGNC:HGNC:13599
    See related
    Ensembl:ENSG00000005812 MIM:605653; AllianceGenome:HGNC:13599
    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
    FBL3; FBL3A; FBXL3A; IDDSFAS
    Summary
    This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 28.0), fat (RPKM 26.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FBXL3 in Genome Data Viewer
    Location:
    13q22.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (77005260..77027159, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (76222648..76250801, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (77579395..77601294, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5414 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:77566521-77567720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7838 Neighboring gene DEAH-box helicase 9 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5415 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5417 Neighboring gene CLN5 intracellular trafficking protein Neighboring gene MYC binding protein 2 Neighboring gene MYCBP2 antisense RNA 1 Neighboring gene MYCBP2 antisense RNA 2 Neighboring gene NANOG hESC enhancer GRCh37_chr13:77692083-77692584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7839 Neighboring gene uncharacterized LOC124903184 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:77865534-77865737

    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

    Associated conditions

    Description Tests
    Intellectual disability, short stature, facial anomalies, and joint dislocations
    MedGen: C1853507 OMIM: 606220 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin-protein transferase activity NAS
    Non-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 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in entrainment of circadian clock by photoperiod IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in entrainment of circadian clock by photoperiod ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein destabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein ubiquitination NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of circadian rhythm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in rhythmic process 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
     
    part_of SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of ubiquitin ligase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    F-box/LRR-repeat protein 3
    Names
    F-box and leucine-rich repeat protein 3A
    F-box protein Fbl3a
    F-box/LRR-repeat protein 3A

    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_012158.4NP_036290.1  F-box/LRR-repeat protein 3

      See identical proteins and their annotated locations for NP_036290.1

      Status: REVIEWED

      Source sequence(s)
      AC001226
      Consensus CDS
      CCDS9457.1
      UniProtKB/Swiss-Prot
      B2RB04, Q9P122, Q9UKT7
      Related
      ENSP00000347834.5, ENST00000355619.10
      Conserved Domains (2) summary
      sd00034
      Location:174199
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:3677
      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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      77005260..77027159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266336.2XP_005266393.1  F-box/LRR-repeat protein 3 isoform X1

      See identical proteins and their annotated locations for XP_005266393.1

      UniProtKB/Swiss-Prot
      B2RB04, Q9P122, Q9UKT7
      Conserved Domains (2) summary
      sd00034
      Location:174199
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam12937
      Location:3677
      F-box-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      76222648..76250801 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374424.1XP_054230399.1  F-box/LRR-repeat protein 3 isoform X2

    2. XM_054374423.1XP_054230398.1  F-box/LRR-repeat protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B2RB04, Q9P122, Q9UKT7