InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATN1

Summary

InnateDB Protein

IDBP-15597.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATN1

Protein Name

atrophin 1

Synonyms

B37; D12S755E; DRPLA; HRS; NOD;

Species

Homo sapiens

Ensembl Protein

ENSP00000349076

InnateDB Gene

IDBG-15595 (ATN1)

Protein Structure

UniProt Annotation

Function

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-Asn (polyQ) repeats. {ECO:0000250, ECO:0000269PubMed:10085113, ECO:0000269PubMed:10973986}.

Subcellular Localization

Nucleus. Cytoplasm, perinuclear region. Cell junction {ECO:0000250}. Note=Shuttles between nucleus and cytoplasm. Colocalizes with FAT1 in the perinuclear area, at cell- cell junctions and leading edges of cells (By similarity). Colocalizes with MTG8 in discrete nuclear dots. Proteolytic fragment F1 appears to remain in nucleus. Fragment F2 is exported into the cytoplasm. Fragment F2 from mutant sequences with longer poly-Asn (polyQ) tracts are additionally located to the cytoplasmic membrane and to certain organelles. {ECO:0000250}.

Disease Associations

Dentatorubral-pallidoluysian atrophy (DRPLA) [MIM:125370]: Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed in various tissues including heart, lung, kidney, ovary, testis, prostate, placenta, skeletal Low levels in the liver, thymus and leukocytes. In the adult brain, broadly expressed in amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus, and thalamus. High levels in fetal tissues, especially brain. {ECO:0000269PubMed:7485154, ECO:0000269PubMed:7842016, ECO:0000269PubMed:8965642}.

Comments

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