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

Summary

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 ubiquitin-like protein-specific protease activity. 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. Predicted to be active in several cellular components, including dendritic spine; midbody; and postsynaptic density. Predicted to be extrinsic component of endosome membrane and extrinsic component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 3.5), bone marrow (RPKM 2.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (50493025..50546666, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (48301170..48354744, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (50792759..50838863, complement)

Chromosome 15 - NC_000015.10 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?

USP50 regulates NLRP3 inflammasome activation in duodenogastric reflux-induced gastric tumorigenesis.
Title: USP50 regulates NLRP3 inflammasome activation in duodenogastric reflux-induced gastric tumorigenesis.
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.
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.
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.
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.

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

RH45725 (e-PCR)
- UniSTS:70725

NoName (e-PCR)
- UniSTS:485471

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 cell cycle	IEA Inferred from Electronic Annotation 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
involved_in protein K48-linked deubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K63-linked deubiquitination	IBA Inferred from Biological aspect of Ancestor 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: inactive ubiquitin carboxyl-terminal hydrolase 50

Names: inactive ubiquitin-specific peptidase 50; ubiquitin specific protease 50

NP_987090.2

EC 3.1.2.15

XP_047288421.1

EC 3.1.2.15

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_203494.5 → NP_987090.2 inactive 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