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Ubiquitin-specific protease 6
Identifiers
Symbol	?
NCBI gene	9098
HGNC	12632
OMIM	601145
RefSeq	NM_004505
UniProt	Q93033
Search for Structures Swiss-model Domains InterPro

Ubiquitin-specific protease 6 (USP6), also known as Tre-2 or Tre2 oncogene, is a protein encoded by the USP6 gene in humans. This protein is a member of the ubiquitin-specific protease family, which plays a critical role in the ubiquitin-proteasome system by removing ubiquitin from ubiquitinated proteins, thereby regulating their degradation, localization, and activity.

Structure

The USP6 protein consists of several domains that are characteristic of deubiquitinating enzymes, including a cysteine protease domain that is essential for its enzymatic activity. The structure of USP6 allows it to interact with various substrates and regulatory proteins, facilitating its role in cellular processes.

Function

USP6 is involved in various cellular processes, including:

• Protein Degradation: By removing ubiquitin from target proteins, USP6 regulates their stability and degradation via the proteasome.
• Signal Transduction: USP6 modulates signaling pathways by deubiquitinating key signaling molecules, thus influencing cellular responses to external stimuli.
• Cell Cycle Regulation: Through its action on cell cycle regulators, USP6 can influence cell proliferation and division.

Clinical Significance

USP6 has been implicated in several pathological conditions, particularly in tumorigenesis. It is known to be involved in the formation of certain types of tumors, such as:

• Aneurysmal Bone Cyst (ABC): USP6 is frequently rearranged in ABCs, leading to its overexpression and contributing to the pathogenesis of these benign bone tumors.
• Ewing-like Sarcoma: USP6 rearrangements have also been identified in some cases of Ewing-like sarcoma, a type of soft tissue tumor.

Research and Therapeutic Potential

Given its role in tumorigenesis, USP6 is a potential target for therapeutic intervention. Research is ongoing to develop inhibitors that can specifically target USP6 activity, which may provide new treatment options for tumors associated with USP6 dysregulation.

Also see

• Ubiquitin-proteasome system
• Deubiquitinating enzyme
• Oncogene
• Aneurysmal bone cyst