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    FBXO8 F-box protein 8 [ Homo sapiens (human) ]

    Gene ID: 26269, updated on 17-Jun-2024

    Summary

    Official Symbol
    FBXO8provided by HGNC
    Official Full Name
    F-box protein 8provided by HGNC
    Primary source
    HGNC:HGNC:13587
    See related
    Ensembl:ENSG00000164117 MIM:605649; AllianceGenome:HGNC:13587
    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
    FBS; DC10; FBX8
    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. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 13.8), thyroid (RPKM 12.0) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FBXO8 in Genome Data Viewer
    Location:
    4q34.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (174236658..174283667, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (177576496..177623506, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (175157809..175204818, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986204 Neighboring gene long intergenic non-protein coding RNA 2268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22161 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:175135627-175136287 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:175205027-175205294 Neighboring gene centrosomal protein 44 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22163 Neighboring gene uncharacterized LOC105377547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22164 Neighboring gene NANOG hESC enhancer GRCh37_chr4:175296498-175297056 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:175303725-175304372 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:175304373-175305019

    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 analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    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 guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in regulation of ARF protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of ubiquitin ligase complex NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    F-box only protein 8
    Names
    F-box protein Fbx8
    F-box/SEC7 protein FBS

    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_012180.3NP_036312.2  F-box only protein 8

      See identical proteins and their annotated locations for NP_036312.2

      Status: REVIEWED

      Source sequence(s)
      AC097653
      Consensus CDS
      CCDS3820.1
      UniProtKB/Swiss-Prot
      B2RB40, D3DP41, G5E9Z0, Q6UWN4, Q8IWE1, Q9NRD0, Q9NRP5, Q9UKC4
      UniProtKB/TrEMBL
      A0A0S2Z5D1, B3KVY7
      Related
      ENSP00000377280.2, ENST00000393674.7
      Conserved Domains (2) summary
      cd00171
      Location:133312
      Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
      pfam12937
      Location:74112
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      174236658..174283667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047450062.1XP_047306018.1  F-box only protein 8 isoform X1

      UniProtKB/TrEMBL
      D6RIC0, D6RJ92
      Related
      ENSP00000427313.1, ENST00000515664.5

    RNA

    1. XR_007096390.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      177576496..177623506 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486963.1 RNA Sequence