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

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: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of EMI1 compromises chromosome stability and is associated with cellular transformation in colonic epithelial cell contexts.
Title: Loss of EMI1 compromises chromosome stability and is associated with cellular transformation in colonic epithelial cell contexts.
Effect of Emi1 gene silencing on the proliferation and invasion of human breast cancer cells.
Title: Effect of Emi1 gene silencing on the proliferation and invasion of human breast cancer cells.
Expression significance of Emi1, UBCH10 and CyclinB1 in esophageal squamous cell carcinoma.
Title: Expression significance of Emi1, UBCH10 and CyclinB1 in esophageal squamous cell carcinoma.
Exploring the role of FBXO5 in gastric cancer.
Title: Exploring the role of FBXO5 in gastric cancer.
Prognostic Significance and Immunological Role of FBXO5 in Human Cancers: A Systematic Pan-Cancer Analysis.
Title: Prognostic Significance and Immunological Role of FBXO5 in Human Cancers: A Systematic Pan-Cancer Analysis.
PUMA facilitates EMI1-promoted cytoplasmic Rad51 ubiquitination and inhibits DNA repair in stem and progenitor cells.
Title: PUMA facilitates EMI1-promoted cytoplasmic Rad51 ubiquitination and inhibits DNA repair in stem and progenitor cells.
Modulation of Early Mitotic Inhibitor 1 (EMI1) depletion on the sensitivity of PARP inhibitors in BRCA1 mutated triple-negative breast cancer cells.
Title: Modulation of Early Mitotic Inhibitor 1 (EMI1) depletion on the sensitivity of PARP inhibitors in BRCA1 mutated triple-negative breast cancer cells.
We identified hyperphosphorylation of CDH1, but not pseudosubstrate inhibition by early mitotic inhibitor 1 (EMI1), as a major mechanism driving attenuated APC/C(CDH1) activity in the G1-phase of the cell cycle in cancer stem-like cells (CSC).
Title: Hyperphosphorylation of CDH1 in Glioblastoma Cancer Stem Cells Attenuates APC/C(CDH1) Activity and Pharmacologic Inhibition of APC/C(CDH1/CDC20) Compromises Viability.
Higher mRNA expression levels of FBXO1, FBXO31, SKP2, and FBXO5 were significantly associated with worse prognosis for breast cancer patients. (Review)
Title: Prognostic values of F-box members in breast cancer: an online database analysis and literature review.
A subset of BRCA1-deficient triple-negative breast cancer cells develop resistance to PARP inhibitors by downregulating EMI1 and restoring RAD51-dependent HRR. Reconstitution of EMI1 expression reestablishes PARPi sensitivity both in cellular systems and in an orthotopic mouse model.
Title: The F-Box Domain-Dependent Activity of EMI1 Regulates PARPi Sensitivity in Triple-Negative Breast Cancers.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 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

RH68113 (e-PCR)
- UniSTS:52740

RH46915 (e-PCR)
- UniSTS:69039

G59868 (e-PCR)
- UniSTS:137151

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

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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)

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

See identical proteins and their annotated locations for NP_001135994.1

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:211 → 243

F-box; F-box domain

pfam01485
Location:320 → 368

IBR; IBR domain, a half RING-finger domain
NM_012177.5 → NP_036309.1 F-box only protein 5 isoform a

See identical proteins and their annotated locations for NP_036309.1

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:257 → 289

F-box; F-box domain

pfam01485
Location:366 → 414

IBR; IBR domain, a half RING-finger domain