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

Gene ID: 373509, updated on 1-Aug-2020

Summary

Official Symbol
USP50provided by HGNC
Official Full Name
ubiquitin specific peptidase 50provided by HGNC
Primary source
HGNC:HGNC:20079
See related
Ensembl:ENSG00000170236
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
Expression
Ubiquitous expression in testis (RPKM 3.5), bone marrow (RPKM 2.9) and 25 other tissues See more
Orthologs

Genomic context

See USP50 in Genome Data Viewer
Location:
15q21.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (50500562..50546666, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50792759..50838902, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 8 Neighboring gene ribosomal protein S20 pseudogene 34 Neighboring gene uncharacterized LOC107984741 Neighboring gene transient receptor potential cation channel subfamily M member 7 Neighboring gene RNA, 7SL, cytoplasmic 354, pseudogene

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-like protein-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear speck organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of NLRP3 inflammasome complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-18 production IEA
Inferred from Electronic Annotation
more info
 
protein K48-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K63-linked deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic component of endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
midbody IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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_203494.5NP_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
    Q70EL3
    Related
    ENSP00000434676.1, ENST00000532404.6
    Conserved Domains (2) summary
    cd02674
    Location:45333
    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:45326
    UCH_1; Ubiquitin carboxyl-terminal hydrolase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    50500562..50546666 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001751265.1 RNA Sequence

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