Recombinant Human Putative ataxin-7-like protein 3B (ATXN7L3B)

Uniprot Id

Q96GX2

Target Species

Human

Target Name

ATXN7L3B

Target Full Name

Ataxin-7-like protein 3B

Target Function

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.

Target Involvement

A chromosomal aberration involving ATXN7L3B has been found in a mother and her two children with varying degrees of neurodevelopmental delay and cerebellar ataxia. One child also exhibits episodes of unresponsiveness suggestive of absence seizures and facial dysmorphism. Deletion at 12q21.1 deletes the entire single exon of ATXN7L3B.

Target Subcellular Location

Cytoplasm.

Target Protein Families

SGF11 family

Target Synonyms

A7L3B_HUMAN; Ataxin 7-like 3B; ATXN7L3B; FLJ32080; MGC17296; Putative ataxin-7-like protein 3B