ATN1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ATN1 |
| Official Name | atrophin 1 [Source:HGNC Symbol;Acc:HGNC:3033] |
| Ensembl ID | ENSG00000111676 |
| Bio databases IDs | |
| Aliases | atrophin 1 |
| Synonyms | Atr1, ATROPHIN, atrophin-1, B37, CHEDDA, D12S755E, DRPLA, HRS, LOC100911672, NOD |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- transcription co-activator
- Atrophin-1 family
- transcription co-repressor
- polyglutamine repeat
- glutamine repeat domain
- protein domain specific binding
- JUN kinase binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- ataxia
- dentatorubral-pallidoluysian atrophy
- tremor
- resting tremor
- congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- seizures
- salivary gland mucoepidermoid carcinoma
- salivary gland cancer
- salivary duct carcinoma
role in cell
- formation
- cell death
- differentiation
- quantity
- apoptosis
- loss
- killing
- phosphorylation in
- formation in
- abnormal quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear matrix fraction
- Cytoplasm
- perinuclear region
- cytosol
- nucleoplasm
- nuclear bodies
- nuclear matrix
- cell membrane leading edge
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- response to food
- male gonad development
- determination of adult lifespan
- spermatogenesis
- post-embryonic development
- negative regulation of transcription from RNA polymerase II promoter
- central nervous system development
- positive regulation of transcription, DNA-dependent
- maintenance of cell polarity
- cell killing
- cell migration
- neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- perinuclear region of cytoplasm
- anchoring junction
- cytoplasm
- nuclear matrix
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- protein binding
- transcription coactivator activity
- transcription corepressor activity