DISEASES

Disease-gene associations mined from literature

Literature associating USP44 and embryonal carcinoma

USP44 [ENSP00000258499]

Ubiquitin-specific-processing protease 44; Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C. Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint. Acts as a negative regulator of histone H2B (H2BK120ub1) ubiquitination; Belongs to the peptidase C19 family. USP44 subfamily.

Synonyms:  USP44,  USP44p,  hUSP44,  A0A024RBD7,  F8VRI7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM