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

Gene ID: 26272, updated on 17-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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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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