Property Summary

NCBI Gene PubMed Count 66
Grant Count 238
R01 Count 125
Funding $29,701,770.02
PubMed Score 231.95
PubTator Score 593.21

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
psoriasis -2.100 0.000
atypical teratoid / rhabdoid tumor 2.000 0.000
glioblastoma 1.800 0.000
group 4 medulloblastoma 1.600 0.012
medulloblastoma, large-cell 1.300 0.001
Gaucher disease type 1 1.400 0.040

Synonym

Accession P54259 Q99495 Q99621 Q9UEK7
Symbols B37
HRS
NOD
DRPLA
D12S755E

Gene

Pathway (1)

Gene RIF (32)

PMID Text
25519973 Epigenetic regulation of ATN1 by LSD1 is required for cortical progenitor maintenance.
25398822 Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
24981774 These data demonstrate that the expanded trinucleotide repeat within ATN-1 mRNA is a potential target for compounds designed to achieve allele-selective inhibition of ATN-1 protein, and one agent may allow the targeting of multiple disease genes.
23933208 results suggest that expanded polyQ repeats in ATN1 may contribute to neurodegeneration via alterations in both protein aggregation and intracellular localization.
23263592 This study demonistrated that hypoalbuminemia in early onset DRPLA revealed the possibility of multiorgan involvement.
22342974 In cerebrum and cerebellum of DRPLA transgenic mouse lines at 4, 8, and 12 weeks it is demonstrated that both the number and expression levels of the altered genes are highly dependent on CAG repeat length and age in both brain regions.
22083836 This study demonistrated that Atn1 is response for Dentatorubral-pallidoluysian atrophy.
21827919 This sttudy suggested that age-dependent and CAG repeat-dependent intranuclear accumulation of mutant DRPLA leading to nuclear dysfunctions are suggested to be the essential pathophysiologic mechanisms in Dentatorubral-pallidoluysian atrophy.
21749564 A pair of monozygotic twins is diagnosed with dentatorubro pallidoluysian atrophy, identical CAG repeats, and different clinical courses.
20977674 the C-terminal fragment plays a principal role in the pathological accumulation of ATN1 in dentatorubral-pallidoluysian atrophy
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AA Sequence

MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSDGKAEKSRQTAKKARVEEASTPKVNKQ      1 - 70
GRSEEISESESEETNAPKKTKTEQELPRPQSPSDLDSLDGRSLNDDGSSDPRDIDQDNRSTSPSIYSPGS     71 - 140
VENDSDSSSGLSQGPARPYHPPPLFPPSPQPPDSTPRQPEASFEPHPSVTPTGYHAPMEPPTSRMFQAPP    141 - 210
GAPPPHPQLYPGGTGGVLSGPPMGPKGGGAASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPTTPV    211 - 280
GGGNLPSAPPPANFPHVTPNLPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAMGQGMGGLPPGPEKGP    281 - 350
TLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASSSSSSSSSSASPFPASQALPSYPHSFPPPTSLSV    351 - 420
SNQPPKYTQPSLPSQAVWSQGPPPPPPYGRLLANSNAHPGPFPPSTGAQSTAHPPVSTHHHHHQQQQQQQ    421 - 490
QQQQQQQQQQQQHHGNSGPPPPGAFPHPLEGGSSHHAHPYAMSPSLGSLRPYPPGPAHLPPPHSQVSYSQ    491 - 560
AGPNGPPVSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYPFPPVPTVTTSSATLSTVIATVASSPAGYKT    561 - 630
ASPPGPPPYGKRAPSPGAYKTATPPGYKPGSPPSFRTGTPPGYRGTSPPAGPGTFKPGSPTVGPGPLPPA    631 - 700
GPSGLPSLPPPPAAPASGPPLSATQIKQEPAEEYETPESPVPPARSPSPPPKVVDVPSHASQSARFNKHL    701 - 770
DRGFNSCARSDLYFVPLEGSKLAKKRADLVEKVRREAEQRAREEKEREREREREKEREREKERELERSVK    771 - 840
LAQEGRAPVECPSLGPVPHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNRNHPFYVPLGA    841 - 910
VDPGLLGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPLHGVPGPGLDPFPRHGGLALQ    911 - 980
PGPPGLHPFPFHPSLGPLERERLALAAGPALRPDMSYAERLAAERQHAERVAALGNDPLARLQMLNVTPH    981 - 1050
HHQHSHIHSHLHLHQQDAIHAASASVHPLIDPLASGSHLTRIPYPAGTLPNPLLPHPLHENEVLRHQLFA   1051 - 1120
APYRDLPASLSAPMSAAHQLQAMHAQSAELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL   1121 - 1190
//

Text Mined References (70)

PMID Year Title
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25519973 2014 Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance.
25398822 Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
24981774 2014 Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23933208 2013 Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein.
23263592 2013 Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22342974 2012 DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles.
22083836 2012 Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families.
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