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    FBXO4 F-box protein 4 [ Homo sapiens (human) ]

    Gene ID: 26272, updated on 15-Jun-2019

    Summary

    Official Symbol
    FBXO4provided by HGNC
    Official Full Name
    F-box protein 4provided by HGNC
    Primary source
    HGNC:HGNC:13583
    See related
    Ensembl:ENSG00000151876 MIM:609090
    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
    FBX4
    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 the 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 Fbxs class. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.2), lymph node (RPKM 2.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See FBXO4 in Genome Data Viewer
    Location:
    5p13.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (41918061..42040230)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (41925352..41941672)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene 3-oxoacid CoA-transferase 1 Neighboring gene uncharacterized LOC102723752 Neighboring gene OXCT1 antisense RNA 1 Neighboring gene zinc finger protein 626 pseudogene Neighboring gene ribosomal protein S2 pseudogene 22 Neighboring gene chromosome 5 open reading frame 51 Neighboring gene ribosomal protein SA pseudogene 38 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 6 Neighboring gene uncharacterized LOC101926960 Neighboring gene GHR upstream promoter region module A Neighboring gene growth hormone receptor

    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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystem (from REACTOME)
      Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystemTRiC has broad recognition specificities, but in the cell it interacts with only a defined set of substrates (Yam et al. 2008). Many of its substrates that are targeted during biosynthesis are conse...
    • Chaperonin-mediated protein folding, organism-specific biosystem (from REACTOME)
      Chaperonin-mediated protein folding, organism-specific biosystemThe eukaryotic chaperonin TCP-1 ring complex (TRiC/ CCT) plays an essential role in the folding of a subset of proteins prominent among which are the actins and tubulins (reviewed in Altschuler and...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Protein folding, organism-specific biosystem (from REACTOME)
      Protein folding, organism-specific biosystemDue to the crowded envirnoment within the cell, many proteins must interact with molecular chaperones to attain their native conformation (reviewed in Young et al., 2004). Chaperones recognize and...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10141, DKFZp547N213

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    SCF-dependent proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    common myeloid progenitor cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein localization to nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein polyubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of telomere maintenance via telomerase IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of telomere maintenance via telomerase IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    posttranscriptional regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    protein destabilization IEA
    Inferred from Electronic Annotation
    more info
     
    protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein polyubiquitination TAS
    Traceable Author Statement
    more info
     
    protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein ubiquitination TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of DNA damage checkpoint IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein stability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    SCF ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    F-box only protein 4
    Names
    F-box protein Fbx4

    NCBI Reference Sequences (RefSeq)

    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_001297437.1NP_001284366.1  F-box only protein 4 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon in the 3' coding region, which results in a translational frameshift, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC034222
      Consensus CDS
      CCDS75238.1
      UniProtKB/TrEMBL
      D6RAJ6
      Related
      ENSP00000421749.1, ENST00000509134.1
      Conserved Domains (2) summary
      cd11656
      Location:162299
      FBX4_GTPase_like; C-terminal GTPase-like domain of F-Box Only Protein 4
      pfam12937
      Location:59105
      F-box-like; F-box-like
    2. NM_012176.3NP_036308.1  F-box only protein 4 isoform 1

      See identical proteins and their annotated locations for NP_036308.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC034222, AK024075, BC040011, BC048098
      Consensus CDS
      CCDS3938.1
      UniProtKB/Swiss-Prot
      Q9UKT5
      UniProtKB/TrEMBL
      B3KNA0
      Related
      ENSP00000281623.3, ENST00000281623.8
      Conserved Domains (2) summary
      cd11656
      Location:162384
      FBX4_GTPase_like; C-terminal GTPase-like domain of F-Box Only Protein 4
      pfam12937
      Location:59100
      F-box-like; F-box-like
    3. NM_033484.2NP_277019.1  F-box only protein 4 isoform 2

      See identical proteins and their annotated locations for NP_277019.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two exons and its transcription extends past a splice site that is used in variant 1, resulting in a novel 3' coding region and 3' UTR compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC034222, AF176703, AU143782
      Consensus CDS
      CCDS3939.1
      UniProtKB/Swiss-Prot
      Q9UKT5
      Related
      ENSP00000296812.2, ENST00000296812.6
      Conserved Domains (2) summary
      cd11656
      Location:162299
      FBX4_GTPase_like; C-terminal GTPase-like domain of F-Box Only Protein 4
      pfam12937
      Location:59105
      F-box-like; F-box-like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      41918061..42040230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514026.3XP_011512328.1  F-box only protein 4 isoform X1

      Conserved Domains (2) summary
      cd11656
      Location:162305
      FBX4_GTPase_like; C-terminal GTPase-like domain of F-Box Only Protein 4
      pfam12937
      Location:59105
      F-box-like; F-box-like
    2. XM_006714470.4XP_006714533.1  F-box only protein 4 isoform X3

      Conserved Domains (1) summary
      cd11656
      Location:18240
      FBX4_GTPase_like; C-terminal GTPase-like domain of F-Box Only Protein 4
    3. XM_011514027.2XP_011512329.1  F-box only protein 4 isoform X2

      Conserved Domains (1) summary
      cd11656
      Location:28250
      FBX4_GTPase_like; C-terminal GTPase-like domain of F-Box Only Protein 4
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