Property Summary

NCBI Gene PubMed Count 109
Grant Count 198
R01 Count 115
Funding $17,166,656.63
PubMed Score 200.37
PubTator Score 413.07

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P54253 Q17S02 Q9UJG2 Q9Y4J1
Symbols ATX1
SCA1
D6S504E

Gene

PDB

2M41   4J2J   4J2L   1OA8   4APT   4AQP  

Gene RIF (77)

PMID Text
26522012 This study reports the results of molecular dynamics simulations of AXH monomer of Ataxin-1.
25641559 Systematic replacement of each lysine residue in the AXH domain revealed that the lysine at 589 (K589) of ATXN1 is essential for its ubiquitylation by UbcH6.
25344417 Results show that two SNPs in ATXN1 gene have a founder effect of the same repeat carrying allele as in the general Indian population suggesting that that Spinocerebellar ataxia type 1 disease onset is significantly delayed when transmission is maternal.
24858692 this work provides the structural and molecular basis of the interaction between RBM17 and the phosphorylated form of ATXN1.
24155902 Partner recognition of the AXH domain of the transcriptional co-regulator ataxin-1 is fine-tuned by a subtle balance between self- and hetero-associations.
24032423 We measured cerebellar neurochemical alterations in a knock-in mouse model of spinocerebellar ataxia type 1, a hereditary movement disorder, using ultra-high field magnetic resonance spectroscopy (MRS).
23760502 Data indicate that the alternative ataxin-1 (ATXN1) protein is constitutively co-expressed and interacts with ATXN1.
23719381 multiple components of the RAS-MAPK-MSK1 pathway influence ATXN1 levels in Drosophila and human cells
23634774 SCA 1 was the most frequent occurring type of SCA identified in the Autosomal dominant hereditary ataxia in Sri Lanka.
23536093 This study showed that develop progressive cerebellar degeneration requires expressing ATXN1 with an expanded polyglutamine tract.
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AA Sequence

MKSNQERSNECLPPKKREIPATSRSSEEKAPTLPSDNHRVEGTAWLPGNPGGRGHGGGRHGPAGTSVELG      1 - 70
LQQGIGLHKALSTGLDYSPPSAPRSVPVATTLPAAYATPQPGTPVSPVQYAHLPHTFQFIGSSQYSGTYA     71 - 140
SFIPSQLIPPTANPVTSAVASAAGATTPSQRSQLEAYSTLLANMGSLSQTPGHKAEQQQQQQQQQQQQHQ    141 - 210
HQQQQQQQQQQQQQQHLSRAPGLITPGSPPPAQQNQYVHISSSPQNTGRTASPPAIPVHLHPHQTMIPHT    211 - 280
LTLGPPSQVVMQYADSGSHFVPREATKKAESSRLQQAIQAKEVLNGEMEKSRRYGAPSSADLGLGKAGGK    281 - 350
SVPHPYESRHVVVHPSPSDYSSRDPSGVRASVMVLPNSNTPAADLEVQQATHREASPSTLNDKSGLHLGK    351 - 420
PGHRSYALSPHTVIQTTHSASEPLPVGLPATAFYAGTQPPVIGYLSGQQQAITYAGSLPQHLVIPGTQPL    421 - 490
LIPVGSTDMEASGAAPAIVTSSPQFAAVPHTFVTTALPKSENFNPEALVTQAAYPAMVQAQIHLPVVQSV    491 - 560
ASPAAAPPTLPPYFMKGSIIQLANGELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEDSHSPGVAVIQ    561 - 630
FAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSKLSVGDVCISLTLKNLKNGSVKKGQP    631 - 700
VDPASVLLKHSKADGLAGSRHRYAEQENGINQGSAQMLSENGELKFPEKMGLPAAPFLTKIEPSKPAATR    701 - 770
KRRWSAPESRKLEKSEDEPPLTLPKPSLIPQEVKICIEGRSNVGK                             771 - 815
//

Text Mined References (112)

PMID Year Title
26522012 2016 Conformational fluctuations of the AXH monomer of Ataxin-1.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25768905 2015 Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.
25641559 2015 A key lysine residue in the AXH domain of ataxin-1 is essential for its ubiquitylation.
25416956 2014 A proteome-scale map of the human interactome network.
25344417 2014 Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort.
24858692 2014 Structural basis of the phosphorylation dependent complex formation of neurodegenerative disease protein Ataxin-1 and RBM17.
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
24155902 2013 Protein-protein interactions as a strategy towards protein-specific drug design: the example of ataxin-1.
24032423 2013 Non-invasive detection of neurochemical changes prior to overt pathology in a mouse model of spinocerebellar ataxia type 1.
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