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    FBXO5 F-box protein 5 [ Homo sapiens (human) ]

    Gene ID: 26271, updated on 10-Dec-2024

    Summary

    Official Symbol
    FBXO5provided by HGNC
    Official Full Name
    F-box protein 5provided by HGNC
    Primary source
    HGNC:HGNC:13584
    See related
    Ensembl:ENSG00000112029 MIM:606013; AllianceGenome:HGNC:13584
    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
    EMI1; FBX5; Fbxo31
    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. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008]
    Expression
    Broad expression in bone marrow (RPKM 14.0), lymph node (RPKM 6.9) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FBXO5 in Genome Data Viewer
    Location:
    6q25.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (152970535..152983579, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (154171829..154184878, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (153291670..153304714, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TUBB4B pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:153235625-153236126 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:153236127-153236626 Neighboring gene C11orf98 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17691 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17694 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:153324001-153325001 Neighboring gene mitochondrial translation release factor 1 like Neighboring gene ReSE screen-validated silencer GRCh37_chr6:153336909-153337091 Neighboring gene regulator of G protein signaling 17 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:153432509-153433188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17695

    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
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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 anaphase-promoting complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular function inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular function inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin ligase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA endoreduplication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cellular senescence IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of meiotic nuclear division IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of mitotic metaphase/anaphase transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of ubiquitin protein ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oocyte maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of G2/M transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of biomineral tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mesenchymal stem cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of mitotic nuclear division IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spindle assembly involved in female meiosis I IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle organization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in meiotic spindle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    F-box only protein 5
    Names
    F-box protein Fbx5
    early fission inhibitory protein 1
    early mitotic inhibitor 1

    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_001142522.3NP_001135994.1  F-box only protein 5 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform b has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AF129535, AJ420499, BC018905, BI838832
      Consensus CDS
      CCDS47501.1
      UniProtKB/TrEMBL
      B2RB17
      Related
      ENSP00000356210.3, ENST00000367241.3
      Conserved Domains (2) summary
      pfam00646
      Location:211243
      F-box; F-box domain
      pfam01485
      Location:320368
      IBR; IBR domain, a half RING-finger domain
    2. NM_012177.5NP_036309.1  F-box only protein 5 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (a).
      Source sequence(s)
      AF129535, AJ420499, BC018905, DA819893
      Consensus CDS
      CCDS5242.1
      UniProtKB/Swiss-Prot
      B3KNX5, Q5TF47, Q8WV29, Q9UGC8, Q9UKT4
      UniProtKB/TrEMBL
      B2RB17
      Related
      ENSP00000229758.3, ENST00000229758.8
      Conserved Domains (2) summary
      pfam00646
      Location:257289
      F-box; F-box domain
      pfam01485
      Location:366414
      IBR; IBR domain, a half RING-finger domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      152970535..152983579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      154171829..154184878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)