DISEASES

Disease-gene associations mined from literature

Literature on USP14

USP14 [ENSP00000261601]

Ubiquitin carboxyl-terminal hydrolase 14; Proteasome-associated deubiquitinase which releases ubiquitin from the proteasome targeted ubiquitinated proteins. Ensures the regeneration of ubiquitin at the proteasome. Is a reversibly associated subunit of the proteasome and a large fraction of proteasome-free protein exists within the cell. Required for the degradation of the chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis. Serves also as a physiological inhibitor of endoplasmic reticulum-associated degradation (ERAD) under the non-stressed condition by inhibiting the degradation of unfolded endoplasmic reticulum proteins via interaction with ERN1. Indispensable for synaptic development and function at neuromuscular junctions (NMJs). Plays a role in the innate immune defense against viruses by stabilizing the viral DNA sensor CGAS and thus inhibiting its autophagic degradation. ECO:0000269|PubMed:19106094, ECO:0000269|PubMed:19135427,; Belongs to the peptidase C19 family. USP14/UBP6 subfamily.

Synonyms:  USP14,  USP14p,  hUSP14,  A6NJA2,  J3KS55 ...

Linkouts:  STRING  Pharos  UniProt  OMIM