Version 5.4
Homo sapiens Gene: ATN1
Summary
InnateDB Gene IDBG-15595.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATN1
Gene Name atrophin 1
Synonyms B37; D12S755E; DRPLA; HRS; NOD
Species Homo sapiens
Ensembl Gene ENSG00000111676
Encoded Proteins
IDBP-15597
atrophin 1
IDBP-236974
atrophin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 7-23 copies to 49-75 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, Feb 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:6924463-6942321
Strand Forward strand
Band p13.31
Transcripts
ENST00000356654 ENSP00000349076
ENST00000396684 ENSP00000379915
ENST00000541029
ENST00000537488
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 108 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 108 [view]
Protein-Protein 108 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0050827 toxin receptor binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0007417 central nervous system development
GO:0009404 toxin metabolic process
GO:0016477 cell migration
GO:0030011 maintenance of cell polarity
GO:0051402 neuron apoptotic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016363 nuclear matrix
GO:0030054 cell junction
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000004263
View Gene Order
ENSBTAG00000018828
Not yet available
Cross-References
SwissProt P54259
TrEMBL Q86V38
UniProt Splice Variant
Entrez Gene 1822
UniGene Hs.143766 Hs.599913
RefSeq NM_001007026 NM_001940
HUGO HGNC:3033
OMIM 607462
CCDS CCDS31734
HPRD
IMGT
EMBL BC051795 D31840 D38529 D63808 U23851 U47924
GenPept AAB50276 AAB51321 AAH51795 BAA06626 BAA07534 BAA23631
RNA Seq Atlas 1822

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca