Basic Information

Symbol
USP8
RNA class
mRNA
Alias
Ubiquitin Specific Peptidase 8 UBPY Ubiquitin Carboxyl-Terminal Hydrolase 8 Ubiquitin Isopeptidase Y KIAA0055 HumORF8 SPG59 Ubiquitin-Specific-Processing Protease 8 Deubiquitinating Enzyme 8 Ubiquitin Specific Protease 8 Ubiquitin Thiolesterase 8 Ubiquitin Thioesterase 8 EC 3.4.19.12 EC 3.1.2.15 PITA4 HUBPy
Location (GRCh38)
15:50424372-50514421
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_005154.5
Sequence length
18865.0 nt
GC content
0.4016

Transcripts

ID Sequence Length GC content
NM_001128610.3 NCBI
GAGCUGGGCUGGCUUCCGUCCUGGUAGCCAAGGCUAAUUCUCCCUCGAG… 19005 nt 0.4030
NM_001283049.2 NCBI
GAGCUGGGCUGGCUUCCGUCCUGGUAGCCAAGGCUAAUUCUCCCUCGAG… 18547 nt 0.4022
NM_005154.5 NCBI
GAGCUGGGCUGGCUUCCGUCCUGGUAGCCAAGGCUAAUUCUCCCUCGAG… 18865 nt 0.4016
Summary

This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Forensic Context

A study in humans undergoing cardiac surgery with cardiopulmonary bypass demonstrated that acute left ventricular ischemia induces differential expression of 21 microRNAs, including upregulated miR-339-5p, in postischemic myocardial samples [Saddic et al. DOI:10.1152/physiolgenomics.00049.2015].