Atrophin 1 (ATN1)

B37; DRPLA; NOD; Dentatorubral Pallidoluysian Atrophy

SPN	U619
HGNC	3033
MGI	104725
PubMed	9647693
RGD	61832
UniProt	P54259
Wiki	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".

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.

Reference

"Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)."
Nat. Genet. 8:177-182(1994) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS."
Am. J. Hum. Genet. 57:1050-1060(1995) [PubMed] [Europe PMC] [Abstract]

"DRPLA gene (atrophin-1) sequence and mRNA expression in human brain."
Brain Res. Mol. Brain Res. 36:219-226(1996) [PubMed] [Europe PMC] [Abstract]

"Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination."
Genome Res. 7:268-280(1997) [PubMed] [Europe PMC] [Abstract]

"A unique origin and multistep process for the generation of expanded DRPLA triplet repeats."
Hum. Mol. Genet. 5:373-379(1996) [PubMed] [Europe PMC] [Abstract]

"The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family."
Nat. Genet. 7:521-524(1994) [PubMed] [Europe PMC] [Abstract]

"Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis."
J. Biol. Chem. 272:29238-29242(1997) [PubMed] [Europe PMC] [Abstract]

"Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins."
Mol. Cell. Neurosci. 11:149-160(1998) [PubMed] [Europe PMC] [Abstract]

"Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate."
Hum. Mol. Genet. 8:947-957(1999) [PubMed] [Europe PMC] [Abstract]

"Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity."
J. Biol. Chem. 274:8730-8736(1999) [PubMed] [Europe PMC] [Abstract]

"Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine."
Hum. Mol. Genet. 9:1433-1442(2000) [PubMed] [Europe PMC] [Abstract]

"Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription."
J. Cell Biol. 150:939-948(2000) [PubMed] [Europe PMC] [Abstract]

"Dentatorubral-pallidoluysian atrophy protein is phosphorylated by c-Jun NH2-terminal kinase."
Hum. Mol. Genet. 12:1535-1542(2003) [PubMed] [Europe PMC] [Abstract]

"Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity."
J. Biol. Chem. 278:13047-13055(2003) [PubMed] [Europe PMC] [Abstract]

"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells."
J. Biol. Chem. 284:6955-6965(2009) [PubMed] [Europe PMC] [Abstract]

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

"Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy."
FEBS J. 277:4873-4887(2010) [PubMed] [Europe PMC] [Abstract]

"Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing."
J. Biol. Chem. 285:19391-19401(2010) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]