Sequence in raw or FASTA format:
ATN1 atrophin 1 [Homo sapiens (human)]
|Entrez Gene ID||1822|
|Full Name||atrophin 1|
|Synonyms||B37, D12S755E, DRPLA, HRS, NOD|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Dentatorubro-pallidoluysian atrophy, 125370 (3)
|Homo sapiens (human)||ATN1||NP_001007027.1|
|Pan troglodytes (chimpanzee)||ATN1||NP_001029337.1|
|Macaca mulatta (Rhesus monkey)||ATN1||XP_001118307.2|
|Canis lupus familiaris (dog)||ATN1||XP_003640006.1|
|Bos taurus (cattle)||ATN1||NP_001192677.1|
|Mus musculus (house mouse)||Atn1||NP_031907.2|
|Rattus norvegicus (Norway rat)||Atn1||NP_058924.2|
|Rattus norvegicus (Norway rat)||LOC100911672||XP_003750706.1|
|Gallus gallus (chicken)||ATN1||XP_425518.4|
|GO:0000122||negative regulation of transcription from RNA polymerase II promoter||IDA|
|GO:0007417||central nervous system development||TAS|
|GO:0009404||toxin metabolic process||IEA|
|GO:0030011||maintenance of cell polarity||IEA|
|GO:0051402||neuron apoptotic process||IDA|
|GO:0048471||perinuclear region of cytoplasm||IEA|
|GO:0003714||transcription corepressor activity||IDA|
|GO:0019904||protein domain specific binding||IPI|
|GO:0050827||toxin receptor binding||IEA|
What is the normal function of the ATN1 gene?
The ATN1 gene provides instructions for making a protein called atrophin 1. Although the exact function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in many areas of the brain. Based on studies in other animals, researchers speculate that atrophin 1 may act as a transcriptional co-repressor. A transcriptional co-repressor is a protein that interacts with other DNA-binding proteins to suppress the activity of certain genes, although it cannot attach (bind) to DNA by itself.
One region of the ATN1 gene contains a particular DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. In most people, the number of CAG repeats in the ATN1 gene ranges from 6 to 35.
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