InnateDB Protein
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IDBP-236974.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ATN1
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Protein Name
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atrophin 1
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Synonyms
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B37; D12S755E; DRPLA; HRS; NOD;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000379915
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InnateDB Gene
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IDBG-15595 (ATN1)
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Protein Structure
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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}.
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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}.
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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.
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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}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
108
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
GO:0000122
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negative regulation of transcription from RNA polymerase II promoter
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GO:0006351
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transcription, DNA-templated
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GO:0007417
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central nervous system development
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GO:0051402
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neuron apoptotic process
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Cellular Component |
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PDB ID |
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InterPro |
IPR002951
Atrophin-like
IPR017993
Atrophin-1
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PFAM |
PF03154
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PRINTS |
PR01222
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P54259
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PhosphoSite |
PhosphoSite-P54259
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TrEMBL |
Q86V38
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UniProt Splice Variant |
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Entrez Gene |
1822
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UniGene |
Hs.599913
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RefSeq |
NP_001931
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HUGO |
HGNC:3033
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OMIM |
607462
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CCDS |
CCDS31734
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HPRD |
06311
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IMGT |
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EMBL |
BC051795
D31840
D38529
D63808
U23851
U47924
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GenPept |
AAB50276
AAB51321
AAH51795
BAA06626
BAA07534
BAA23631
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