ATXN1
entrez
6310
canonical
uniprot
P54253
canonical
ensembl
ENSG00000124788
resolver
ensp
ENSP00000244769
resolver
ensp
ENSP00000416360
resolver
ensp
ENSP00000493530
resolver
enst
ENST00000244769
resolver
enst
ENST00000436367
resolver
enst
ENST00000642969
resolver
genesymbol
ATXN1
resolver
genesymbol_syn
ATX1
resolver
genesymbol_syn
SCA1
resolver
hgnc
HGNC:10548
resolver
uniprot
A0A2R8YCF3
resolver
uniprot
Q17S02
resolver
uniprot
Q96FF1
resolver
uniprot
Q9UJG2
resolver
uniprot
Q9Y4J1
resolver
uniprot_entry
A0A2R8YCF3_HUMAN
resolver
uniprot_entry
ATX1_HUMAN
resolver
uniprot_entry
Q96FF1_HUMAN
resolver
uniprot_sec
Q17S02
resolver
uniprot_sec
Q9UJG2
resolver
uniprot_sec
Q9Y4J1
resolver
amino_acid_sequence
MKSNQERSNECLPPKKREIPATSRSSEEKAPTLPSDNHRVEGTAWLPGNPGGRGHGGGRHGPAGTSVELGLQQGIGLHKALSTGLDYSPPSAPRSVPVATTLPAAYATPQPGTPVSPVQYAHLPHTFQFIGSSQYSGTYASFIPSQLIPPTANPVTSAVASAAGATTPSQRSQLEAYSTLLANMGSLSQTPGHKAEQQQQQQQQQQQQHQHQQQQQQQQQQQQQQHLSRAPGLITPGSPPPAQQNQYVHISSSPQNTGRTASPPAIPVHLHPHQTMIPHTLTLGPPSQVVMQYADSGSHFVPREATKKAESSRLQQAIQAKEVLNGEMEKSRRYGAPSSADLGLGKAGGKSVPHPYESRHVVVHPSPSDYSSRDPSGVRASVMVLPNSNTPAADLEVQQATHREASPSTLNDKSGLHLGKPGHRSYALSPHTVIQTTHSASEPLPVGLPATAFYAGTQPPVIGYLSGQQQAITYAGSLPQHLVIPGTQPLLIPVGSTDMEASGAAPAIVTSSPQFAAVPHTFVTTALPKSENFNPEALVTQAAYPAMVQAQIHLPVVQSVASPAAAPPTLPPYFMKGSIIQLANGELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSKLSVGDVCISLTLKNLKNGSVKKGQPVDPASVLLKHSKADGLAGSRHRYAEQENGINQGSAQMLSENGELKFPEKMGLPAAPFLTKIEPSKPAATRKRRWSAPESRKLEKSEDEPPLTLPKPSLIPQEVKICIEGRSNVGK
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia 1 (SCA1) [MIM:164400]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. {ECO:0000269|PubMed:7647801, ECO:0000269|PubMed:7951322, ECO:0000269|PubMed:8634720}. Note=The disease is caused by variants affecting the gene represented in this entry. The disease is caused by expansion of the polyglutamine tract to about 40-83 repeats, causing accumulation in neurons and exerting toxicity. {ECO:0000269|PubMed:7647801, ECO:0000269|PubMed:8634720}.
uniprot
proteins
function
FUNCTION: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity). {ECO:0000250|UniProtKB:P54254, ECO:0000269|PubMed:21475249}.
uniprot
proteins
mass_dalton
86923
uniprot
proteins
mutagenesis
MUTAGEN 16; /note="K->R: Sumoylation reduced to 40% of wild-type."; /evidence="ECO:0000269|PubMed:15824120"; MUTAGEN 194; /note="K->R: Sumoylation reduced to 46% of wild-type."; /evidence="ECO:0000269|PubMed:15824120"; MUTAGEN 420; /note="K->R: No effect on sumoylation."; /evidence="ECO:0000269|PubMed:15824120"; MUTAGEN 529; /note="K->R: Sumoylation reduced to 57% of wild-type."; /evidence="ECO:0000269|PubMed:15824120"; MUTAGEN 589; /note="K->R: Sumoylation reduced to 53% of wild-type."; /evidence="ECO:0000269|PubMed:15824120"; MUTAGEN 594; /note="K->R: Sumoylation reduced to 68% of wild-type."; /evidence="ECO:0000269|PubMed:15824120"; MUTAGEN 609; /note="K->R: Sumoylation reduced to 43% of wild-type."; /evidence="ECO:0000269|PubMed:15824120"; MUTAGEN 691; /note="K->R: No effect on sumoylation."; /evidence="ECO:0000269|PubMed:15824120"; MUTAGEN 696; /note="K->R: Sumoylation reduced to 42% of wild-type."; /evidence="ECO:0000269|PubMed:15824120"; MUTAGEN 745; /note="K->R: Sumoylation reduced to 44% of wild-type."; /evidence="ECO:0000269|PubMed:15824120"; MUTAGEN 775; /note="S->A: Reduces phosphorylation but does not affect nuclear localization."; /evidence="ECO:0000269|PubMed:12741986"; MUTAGEN 784; /note="K->R: Sumoylation reduced to 62% of wild-type."; /evidence="ECO:0000269|PubMed:15824120
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by UBE3A, leading to its degradation by the proteasome. The presence of expanded poly-Gln repeats in spinocerebellar ataxia 1 (SCA1) patients impairs ubiquitination and degradation, leading to accumulation of ATXN1 in neurons and subsequent toxicity. {ECO:0000250|UniProtKB:P54254}.; PTM: Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract. {ECO:0000269|PubMed:12741986}.; PTM: Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of an expanded polyglutamine tract. {ECO:0000269|PubMed:12741986, ECO:0000269|PubMed:15824120}.
uniprot
proteins
protein_family
ATXN1 family
uniprot
proteins
pubmed
11001934
uniprot
proteins
pubmed
11136710
uniprot
proteins
pubmed
12062018
uniprot
proteins
pubmed
12093161
uniprot
proteins
pubmed
12741986
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14583607
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15824120
uniprot
proteins
pubmed
16121196
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21475249
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25768905
uniprot
proteins
pubmed
7647801
uniprot
proteins
pubmed
7951322
uniprot
proteins
pubmed
8634720
uniprot
proteins
pubmed
9097953
uniprot
proteins
pubmed
9353121
uniprot
proteins
sequence_length
815
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:7647801}. Nucleus {ECO:0000269|PubMed:12093161, ECO:0000269|PubMed:7647801}. Note=Colocalizes with USP7 in the nucleus. {ECO:0000269|PubMed:12093161}.
uniprot
proteins