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

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: mouse all
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Genomic context

Location:: 4q34.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (174236658..174283667, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (177576496..177623506, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (175157809..175204818, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FBXO8 is a novel prognostic biomarker in different molecular subtypes of breast cancer and suppresses breast cancer progression by targeting c-MYC.
Title: FBXO8 is a novel prognostic biomarker in different molecular subtypes of breast cancer and suppresses breast cancer progression by targeting c-MYC.
FBX8 promotes metastatic dormancy of colorectal cancer in liver.
Title: FBX8 promotes metastatic dormancy of colorectal cancer in liver.
FBX8 directly targets GSTP1 for ubiquitin-mediated proteasome degradation in colorectal carcinoma. The inactivation of FBX8 negatively correlated with increased levels and stability of GSTP1 in clinical CRC tissues and FBX8 knockout transgenic mice.
Title: FBX8 degrades GSTP1 through ubiquitination to suppress colorectal cancer progression.
Study demonstrates that down-regulation of FBX8 in hepatocellular carcinoma (HCC) correlates with poor survival of patients. All of the functional experiments confirm FBX8 as a tumor suppressor in the progression of HCC. The preferential down-regulation of FBX8 in HCC patients with invasion and metastasis suggested that FBX8 may be a significant biomarker for HCC progression.
Title: FBX8 Acts as an Invasion and Metastasis Suppressor and Correlates with Poor Survival in Hepatocellular Carcinoma.
FBX8 as a metastasis suppressor that functions through mTOR signaling pathway and has significant prognostic power.
Title: FBX8 is a metastasis suppressor downstream of miR-223 and targeting mTOR for degradation in colorectal carcinoma.
FBX8 down-expression was an independent prognostic indicator for glioma patient's survival.
Title: Down-expression of F box only protein 8 correlates with tumor grade and poor prognosis in human glioma.
FBX8 was markedly down-regulated in gastric cancer tissues. Knocking down FBX8 promoted proliferation and invasion in tumor cell line. Patients with low FBX8 had poor prognosis.
Title: Significance of FBX8 in progression of gastric cancer.
FBX8 is a novel c-Myc binding protein and that c-Myc induces cell invasive activity
Title: c-Myc stimulates cell invasion by inhibiting FBX8 function.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Screening for replication of genome-wide SNP associations in sporadic ALS.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-67414 (e-PCR)
- UniSTS:6207

A006G26 (e-PCR)
- UniSTS:7527

D4S2676 (e-PCR)
- UniSTS:1225

G32346 (e-PCR)
- UniSTS:116937

FBXO8_637 (e-PCR)
- UniSTS:277235

FBXO8_V34 (e-PCR)
- UniSTS:277235

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

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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)

NM_012180.3 → NP_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:133 → 312

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:74 → 112

F-box-like