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

Gene ID: 26269, updated on 12-Aug-2022

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
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Genomic context

See FBXO8 in Genome Data Viewer
Location:
4q34.1
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (174236658..174283667, complement)
110 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 centrosomal protein 44 Neighboring gene uncharacterized LOC105377547

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of catalytic activity 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)

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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
    Q9NRD0, Q9UKC4
    UniProtKB/TrEMBL
    A0A0S2Z5D1, Q8IXA8
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    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)