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USP6

Domain

The Rab-GAP TBC domain lacks GTPase activator activity but is necessary for interaction with ARF6.

Function

Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyzes its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation. May act as a GTPase-activating protein for RAB3A (PubMed:19077034).

Involvement in disease

A chromosomal aberration involving USP6 is a common genetic feature of aneurysmal bone cyst, a benign osseous neoplasm. Translocation t(16;17)(q22;p13) with CDH11. The translocation generates a fusion gene in which the strong CDH11 promoter is fused to the entire USP6 coding sequence, resulting in USP6 transcriptional up-regulation (PubMed:15026324).

Post-translational modifications

Monubiquitinated; ubiquitination is calmodulin and calcium dependent.

Sequence Similarities

Belongs to the peptidase C19 family.

Tissue Specificity

Testis specific. Expressed in various cancer cell lines.

Cellular localization

Alternative names

HRP1, TRE2, USP6, Ubiquitin carboxyl-terminal hydrolase 6, Deubiquitinating enzyme 6, Proto-oncogene TRE-2, RN-tre, Ubiquitin thioesterase 6, Ubiquitin-specific-processing protease 6

swissprot:P35125 entrezGene:9098 omim:604334