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

Gene ID: 26271, updated on 3-May-2020

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
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

Genomic context

See FBXO5 in Genome Data Viewer
Location:
6q25.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (152970535..152983579, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (153291658..153304740, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TUBB4B pseudogene 7 Neighboring gene uncharacterized protein C11orf98 homolog pseudogene Neighboring gene mitochondrial translational release factor 1 like Neighboring gene regulator of G protein signaling 17

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

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA 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
anaphase-promoting complex binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin ligase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
microtubule polymerization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA endoreduplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of meiotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of mitotic metaphase/anaphase transition IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of ubiquitin protein ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
oocyte maturation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of G2/M transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of biomineral tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mesenchymal stem cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitotic cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of mitotic cell cycle phase transition TAS
Traceable Author Statement
more info
 
regulation of mitotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
spindle assembly involved in female meiosis I IEA
Inferred from Electronic Annotation
more info
 
vesicle organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
meiotic spindle ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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 mitotic inhibitor 1

NCBI Reference Sequences (RefSeq)

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

    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/Swiss-Prot
    Q9UKT4
    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

    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
    Q9UKT4
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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