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- Table of Contents
Facts about Atrophin-1.
Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression.
Human | |
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Gene Name: | ATN1 |
Uniprot: | P54259 |
Entrez: | 1822 |
Belongs to: |
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No superfamily |
ATN1; atrophin 1; atrophin-1; B37; D12S755E; dentatorubral-pallidoluysian atrophy (atrophin-1); Dentatorubral-pallidoluysian atrophy protein; DRPLA; DRPLANOD; HRS; NOD
Mass (kDA):
125.414 kDA
Human | |
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Location: | 12p13.31 |
Sequence: | 12; NC_000012.12 (6924459..6942321) |
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.
Nucleus. Cytoplasm, perinuclear region. Cell junction. 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-Gln (polyQ) tracts are additionally located to the cytoplasmic membrane and to certain organelles.
PMID: 7842016 by Nagafuchi S., et al. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA).
PMID: 7485154 by Onodera O., et al. Molecular cloning of a full-length cDNA for dentatorubral- pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS.