Entrez Summary: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016].
UniProt Summary: Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats. {ECO:0000250, ECO:0000269|PubMed:10085113, ECO:0000269|PubMed:10973986}.
Pfam DomainsGO Terms
Pfam Domains
Atrophin-1
GO Terms
neuron apoptotic process
neuron death
RNA polymerase II transcription factor binding
nuclear matrix
transcription corepressor activity
protein domain specific binding
cell junction
perinuclear region of cytoplasm
negative regulation of transcription by RNA polymerase II
apoptotic process
central nervous system development
programmed cell death
cell death
negative regulation of transcription, DNA-templated
negative regulation of nucleic acid-templated transcription
negative regulation of RNA biosynthetic process
negative regulation of RNA metabolic process
negative regulation of cellular macromolecule biosynthetic process
negative regulation of nucleobase-containing compound metabolic process
DNA binding
negative regulation of macromolecule biosynthetic process
negative regulation of cellular biosynthetic process
negative regulation of biosynthetic process
negative regulation of gene expression
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)