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USP50 ubiquitin specific peptidase 50 [ Homo sapiens (human) ]

Gene ID: 373509, updated on 2-Nov-2024

Summary

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Official Symbol
USP50provided by HGNC
Official Full Name
ubiquitin specific peptidase 50provided by HGNC
Primary source
HGNC:HGNC:20079
See related
Ensembl:ENSG00000170236 MIM:620563; AllianceGenome:HGNC:20079
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Enables cysteine-type deubiquitinase activity. Involved in regulation of cell cycle G2/M phase transition. Acts upstream of or within several processes, including nuclear speck organization; positive regulation of NLRP3 inflammasome complex assembly; and positive regulation of macromolecule metabolic process. Located in centrosome; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 3.5), bone marrow (RPKM 2.9) and 25 other tissues See more
Orthologs
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Genomic context

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See USP50 in Genome Data Viewer
Location:
15q21.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (50493025..50546666, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (48301170..48354744, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50792759..50838863, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 8 Neighboring gene RNA, 5S ribosomal pseudogene 395 Neighboring gene ribosomal protein S20 pseudogene 34 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:50776274-50776376 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:50801331-50801565 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:50843324-50843838 Neighboring gene transient receptor potential cation channel subfamily M member 7 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:50884350-50885549 Neighboring gene uncharacterized LOC128092252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50969254-50969754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50969755-50970255 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:50978082-50978946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9397 Neighboring gene RNA, 7SL, cytoplasmic 354, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. USP50 regulates NLRP3 inflammasome activation in duodenogastric reflux-induced gastric tumorigenesis. Zhao C, et al. Front Immunol, 2024. PMID 38469295, Free PMC Article
  2. Induction of deubiquitinating enzyme USP50 during erythropoiesis and its potential role in the regulation of Ku70 stability. Cai J, et al. J Investig Med, 2018 Jan. PMID 29101126, Free PMC Article
  3. USP50 suppresses alternative RecQ helicase use and deleterious DNA2 activity during replication. Mackay HL, et al. Nat Commun, 2024 Sep 16. PMID 39284827, Free PMC Article
  4. Vitamin C promotes ACE2 degradation and protects against SARS-CoV-2 infection. Zuo Y, et al. EMBO Rep, 2023 Apr 5. PMID 36876523, Free PMC Article
  5. Mitochondrial STAT3 exacerbates LPS-induced sepsis by driving CPT1a-mediated fatty acid oxidation. Li R, et al. Theranostics, 2022. PMID 34976224, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. USP50 suppresses alternative RecQ helicase use and deleterious DNA2 activity during replication.
    Title: USP50 suppresses alternative RecQ helicase use and deleterious DNA2 activity during replication.
  2. USP50 regulates NLRP3 inflammasome activation in duodenogastric reflux-induced gastric tumorigenesis.
    Title: USP50 regulates NLRP3 inflammasome activation in duodenogastric reflux-induced gastric tumorigenesis.
  3. verexpression of USP50 has no effect on Ku70 mRNA levels, while it reduces Ku70 protein levels by promoting Ku70 degradation, suggesting that USP50 may indirectly regulate Ku70 protein stability.
    Title: Induction of deubiquitinating enzyme USP50 during erythropoiesis and its potential role in the regulation of Ku70 stability.
  4. the deubiquitinating enzyme USP50 binds to the ASC protein and subsequently regulates the inflammasome signaling pathway.
    Title: The deubiquitinating enzyme, ubiquitin-specific peptidase 50, regulates inflammasome activation by targeting the ASC adaptor protein.
  5. USP50 may act through a HSP90-dependent mechanism to counteract CDC25B mitotic inducing activity and prevent Wee1 degradation.
    Title: A screen for deubiquitinating enzymes involved in the G₂/M checkpoint identifies USP50 as a regulator of HSP90-dependent Wee1 stability.
  6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
EBI GWAS Catalog

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cysteine-type deubiquitinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin-like protein peptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within nuclear speck organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of NLRP3 inflammasome complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of interleukin-18 production IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within protein deubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell cycle G2/M phase transition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in midbody IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ubiquitin carboxyl-terminal hydrolase 50
Names
inactive ubiquitin carboxyl-terminal hydrolase 50
inactive ubiquitin-specific peptidase 50
ubiquitin specific protease 50
NP_987090.2
XP_047288421.1

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)

  1. NM_203494.5 → NP_987090.2  ubiquitin carboxyl-terminal hydrolase 50

    See identical proteins and their annotated locations for NP_987090.2

    Status: VALIDATED

    Source sequence(s)
    AC012170
    Consensus CDS
    CCDS53944.1
    UniProtKB/Swiss-Prot
    E9PP86, Q70EL3
    Related
    ENSP00000434676.1, ENST00000532404.6
    Conserved Domains (2) summary
    cd02674
    Location:45 → 333
    Peptidase_C19R; A subfamily of peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
    pfam13423
    Location:45 → 326
    UCH_1; Ubiquitin carboxyl-terminal hydrolase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    50493025..50546666 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432465.1 → XP_047288421.1  ubiquitin carboxyl-terminal hydrolase 50 isoform X1

RNA

  1. XR_007064444.1 RNA Sequence

  2. XR_007064443.1 RNA Sequence

  3. XR_007064445.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    48301170..48354744 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008488945.1 RNA Sequence

  2. XR_008488944.1 RNA Sequence

  3. XR_008488946.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q70EL3.1 GenPept UniProtKB/Swiss-Prot:Q70EL3

Gene LinkOut

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