DISEASES

Disease-gene associations mined from literature

Literature associating UBE2QL1 and autosomal dominant non-syndromic intellectual disability 44

UBE2QL1 [ENSP00000382713]

Ubiquitin-conjugating enzyme E2Q-like protein 1; Probable E2 ubiquitin-protein ligase that catalyzes the covalent attachment of ubiquitin to target proteins. May facilitate the monoubiquitination and degradation of MTOR and CCNE1 through interaction with FBXW7; Belongs to the ubiquitin-conjugating enzyme family.

Synonyms:  UBE2QL1,  UBE2QL1p,  hUBE2QL1,  A1L167,  A1L167p ...

Linkouts:  STRING  Pharos  UniProt  OMIM