ATN1

ATN1

ATN1 is a protein found in nervous tissue.

It is associated with a form of trinucleotide repeat disorder known as "dentatorubral-pallidoluysian atrophy" or "dentatorubropallidoluysian atrophy".

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summary_text = Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion of a trinucleotide repeat 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.cite web | title = Entrez Gene: ATN1 atrophin 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1822| accessdate = ]

References

Further reading

*cite journal | author= Wang L, Rajan, H, Pitman J, McKeown M and Tsai CC | title= Histone deacetylase-associating Atrophin proteins are nuclear receptor corepressors . | journal= Genes and Development | volume= 20 | issue= 5 | pages= 525-30 | year= 2006PBB_Further_reading
citations =
*cite journal | author=Onodera O, Oyake M, Takano H, "et al." |title=Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. |journal=Am. J. Hum. Genet. |volume=57 |issue= 5 |pages= 1050–60 |year= 1995 |pmid= 7485154 |doi=
*cite journal | author=Yazawa I, Nukina N, Hashida H, "et al." |title=Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. |journal=Nat. Genet. |volume=10 |issue= 1 |pages= 99–103 |year= 1995 |pmid= 7647802 |doi= 10.1038/ng0595-99
*cite journal | author=Nagafuchi S, Yanagisawa H, Ohsaki E, "et al." |title=Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). |journal=Nat. Genet. |volume=8 |issue= 2 |pages= 177–82 |year= 1995 |pmid= 7842016 |doi= 10.1038/ng1094-177
*cite journal | author=Burke JR, Wingfield MS, Lewis KE, "et al." |title=The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. |journal=Nat. Genet. |volume=7 |issue= 4 |pages= 521–4 |year= 1994 |pmid= 7951323 |doi= 10.1038/ng0894-521
*cite journal | author=Nagafuchi S, Yanagisawa H, Sato K, "et al." |title=Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. |journal=Nat. Genet. |volume=6 |issue= 1 |pages= 14–8 |year= 1994 |pmid= 8136826 |doi= 10.1038/ng0194-14
*cite journal | author=Koide R, Ikeuchi T, Onodera O, "et al." |title=Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). |journal=Nat. Genet. |volume=6 |issue= 1 |pages= 9–13 |year= 1994 |pmid= 8136840 |doi= 10.1038/ng0194-9
*cite journal | author=Li SH, McInnis MG, Margolis RL, "et al." |title=Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. |journal=Genomics |volume=16 |issue= 3 |pages= 572–9 |year= 1993 |pmid= 8325628 |doi= 10.1006/geno.1993.1232
*cite journal | author=Ansari-Lari MA, Muzny DM, Lu J, "et al." |title=A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13. |journal=Genome Res. |volume=6 |issue= 4 |pages= 314–26 |year= 1996 |pmid= 8723724 |doi=
*cite journal | author=Takano T, Yamanouchi Y, Nagafuchi S, Yamada M |title=Assignment of the dentatorubral and pallidoluysian atrophy (DRPLA) gene to 12p 13.31 by fluorescence in situ hybridization. |journal=Genomics |volume=32 |issue= 1 |pages= 171–2 |year= 1996 |pmid= 8786114 |doi= 10.1006/geno.1996.0100
*cite journal | author=Yanagisawa H, Fujii K, Nagafuchi S, "et al." |title=A unique origin and multistep process for the generation of expanded DRPLA triplet repeats. |journal=Hum. Mol. Genet. |volume=5 |issue= 3 |pages= 373–9 |year= 1997 |pmid= 8852663 |doi=
*cite journal | author=Margolis RL, Li SH, Young WS, "et al." |title=DRPLA gene (atrophin-1) sequence and mRNA expression in human brain. |journal=Brain Res. Mol. Brain Res. |volume=36 |issue= 2 |pages= 219–26 |year= 1996 |pmid= 8965642 |doi=
*cite journal | author=Ansari-Lari MA, Shen Y, Muzny DM, "et al." |title=Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. |journal=Genome Res. |volume=7 |issue= 3 |pages= 268–80 |year= 1997 |pmid= 9074930 |doi=
*cite journal | author=Miyashita T, Okamura-Oho Y, Mito Y, "et al." |title=Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis. |journal=J. Biol. Chem. |volume=272 |issue= 46 |pages= 29238–42 |year= 1997 |pmid= 9361003 |doi=
*cite journal | author=Wellington CL, Ellerby LM, Hackam AS, "et al." |title=Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. |journal=J. Biol. Chem. |volume=273 |issue= 15 |pages= 9158–67 |year= 1998 |pmid= 9535906 |doi=
*cite journal | author=Wood JD, Yuan J, Margolis RL, "et al." |title=Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins. |journal=Mol. Cell. Neurosci. |volume=11 |issue= 3 |pages= 149–60 |year= 1998 |pmid= 9647693 |doi= 10.1006/mcne.1998.0677
*cite journal | author=Hayashi Y, Kakita A, Yamada M, "et al." |title=Hereditary dentatorubral-pallidoluysian atrophy: detection of widespread ubiquitinated neuronal and glial intranuclear inclusions in the brain. |journal=Acta Neuropathol. |volume=96 |issue= 6 |pages= 547–52 |year= 1999 |pmid= 9845282 |doi=
*cite journal | author=Takiyama Y, Sakoe K, Amaike M, "et al." |title=Single sperm analysis of the CAG repeats in the gene for dentatorubral-pallidoluysian atrophy (DRPLA): the instability of the CAG repeats in the DRPLA gene is prominent among the CAG repeat diseases. |journal=Hum. Mol. Genet. |volume=8 |issue= 3 |pages= 453–7 |year= 1999 |pmid= 9949204 |doi=
*cite journal | author=Okamura-Oho Y, Miyashita T, Ohmi K, Yamada M |title=Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate. |journal=Hum. Mol. Genet. |volume=8 |issue= 6 |pages= 947–57 |year= 1999 |pmid= 10332026 |doi=
*cite journal | author=Dias Neto E, Correa RG, Verjovski-Almeida S, "et al." |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491–6 |year= 2000 |pmid= 10737800 |doi=
*cite journal | author=Yanagisawa H, Bundo M, Miyashita T, "et al." |title=Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine. |journal=Hum. Mol. Genet. |volume=9 |issue= 9 |pages= 1433–42 |year= 2000 |pmid= 10814707 |doi=

External links

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