DefinitionThis section has been translated automatically.
The USP17L3 gene (USP17L1 stands for: Ubiquitin Specific Peptidase 17 Like Family Member 3) is a protein coding gene located on chromosome 8p23.1 (see USP17L1 gene). Biochemical activities associated with this gene include cysteine-type peptidase activity and cysteine-type deubiquitinase activity. An important paralog of this gene is USP17L1.
General informationThis section has been translated automatically.
The gene codes for an enzyme with cysteine-type endopeptidase activity and a thiol-dependent deubiquitinase. Like other deubiquitinases (see USP17L1 gene below), it removes conjugated ubiquitin from certain proteins in order to regulate various cellular processes. These include cell proliferation, cell cycle progression, apoptosis, cell migration and the cellular response to viral infections. The enzyme is apparently localized in the endoplasmic reticulum and is active in the cytosol and nucleus.
Diseases associated with USP17L3 include:
- Partington's syndrome
- and
- developmental and epileptic encephalopathy 1.
LiteratureThis section has been translated automatically.
- Bozaykut P, Sozen E, Kaga E, Ece A, Ozaltin E, Ek B, Ozer NK, Grune T, Bergquist J, Karademir B. The role of heat stress on the age related protein carbonylation. J Proteomics. 2013 Aug 26;89:238-54.
- Zhu X et al. (2007) High incidence of ubiquitin-like domains in human ubiquitin-specific proteases. Proteins 69:1-7.