| Gene Symbol |
ATN1
|
| Entrez Gene |
1822
|
| Alt Symbol |
B37, D12S755E, DRPLA, HRS, NOD
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
atrophin 1
|
| Other Description |
atrophin-1|dentatorubral-pallidoluysian atrophy protein
|
| Swissprots |
P54259 Q9UEK7 Q99621 Q99495
|
| Accessions |
AAB51321 BAA23631 EAW88706 EAW88707 EAW88708 P54259 AW411230 BC051795 AAH51795 BE142829 BQ448220 BQ880124 BQ897715 BQ957462 D31840 BAA06626 D38529 BAA07534 EU446506 ABZ92035 U23851 AAB50276 NM_001007026 NP_001007027 NM_001940 NP_001931
|
| 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:0000269|PubMed:10085113, ECO:0000269|PubMed:10973986}.
|
| Subcellular Location |
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}.
|
| 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:0000269|PubMed:7485154, ECO:0000269|PubMed:7842016, ECO:0000269|PubMed:8965642}.
|