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

Gene ID: 373509, updated on 23-Nov-2021

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
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Genomic context

See USP50 in Genome Data Viewer
Location:
15q21.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (50500562..50546666, complement)
105.20201022 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 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

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables thiol-dependent deubiquitinase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin-like protein-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in extrinsic component of endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in extrinsic component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in midbody IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in 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)

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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_203494.5NP_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 Updated Annotation Release 109.20211119

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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