Disease-gene associations mined from literature

Literature associating ATXN7L3B and spinocerebellar ataxia type 7

ATXN7L3B [ENSP00000430000]

Ataxin-7-like protein 3B; By binding to ENY2, interferes with the nuclear functions of the deubiquitinase (DUB) module of the SAGA complex which consists of ENY2, ATXN7, ATXN7L3 and the histone deubiquitinating component USP22. Affects USP22 DUB activity toward histones indirectly by changing the subcellular distribution of ENY2 and altering ENY2 availability for ATXN7L3 interaction. Regulates H2B monoubiquitination (H2Bub1) levels through cytoplasmic sequestration of ENY2 resulting in loss of nuclear ENY2-ATXN7L3 association which destabilizes ATXN7L3. Affects protein expression levels of ENY2 and ATXN7L3.

Synonyms:  ATXN7L3B,  Q96GX2,  Q96GX2p,  hQ96GX2,  552889 ...

Linkouts:  STRING  Pharos  UniProt