Atxn1
entrez
20238
canonical
uniprot
P54254
canonical
ensembl
ENSMUSG00000046876
resolver
ensp
ENSMUSP00000089217
resolver
ensp
ENSMUSP00000129890
resolver
ensp
ENSMUSP00000137439
resolver
ensp
ENSMUSP00000268478
resolver
enst
ENSMUST00000091628
resolver
enst
ENSMUST00000167708
resolver
enst
ENSMUST00000180110
resolver
genesymbol
Atxn1
resolver
genesymbol_syn
Sca1
resolver
uniprot
J3QPR1
resolver
uniprot
Q8C866
resolver
uniprot_entry
ATX1_MOUSE
resolver
uniprot_entry
J3QPR1_MOUSE
resolver
uniprot_sec
Q8C866
resolver
amino_acid_sequence
MKSNQERSNECLPPKKREIPATSRPSEEKATALPSDNHCVEGVAWLPSTPGIRGHGGGRHGSAGTSGEHGLQGMGLHKALSAGLDYSPPSAPRSVPTANTLPTVYPPPQSGTPVSPVQYAHLSHTFQFIGSSQYSGPYAGFIPSQLISPSGNPVTSAVASAAGATTPSQRSQLEAYSTLLANMGSLSQAPGHKVEPPPQQHLSRAAGLVNPGSPPPPTQQNQYIHISSSPQSSGRATSPPPIPVHLHPHQTMIPHTLTLGPSSQVVVQYSDAGGHFVPRESTKKAESSRLQQAMQAKEVLNGEMEKSRRYGASSSVELSLGKASSKSVPHPYESRHVVVHPSPADYSSRDTSGVRGSVMVLPNSSTPSADLEAQQTTHREASPSTLNDKSGLHLGKPGHRSYALSPHTVIQTTHSASEPLPVGLPATAFYAGTQPPVIGYLSGQQQAITYAGGLPQHLVIPGNQPLLIPVGSPDMDTPGAASAIVTSSPQFAAVPHTFVTTALPKSENFNPEALVTQAAYPAMVQAQIHLPVVQSVASPTTASPTLPPYFMKGSIIQLANGELKKVEDLKTEDFIQSAEISNDLKIDSSTVERIEESHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSCCPERTSQLFDLPCSKLSVGDVCISLTLKNLKNGSVKKGQPVDPASVLLKQAKTDSLAGSRHRYAEQENGINQGSAQVLSENGELKFPEKIGLPAAPFLSKIEPSKPTATRKRRWSAPETRKLEKSEDEPPLTLPKPSLIPQEVKICIEGRSNVGK
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 (By similarity). May be involved in RNA metabolism (By similarity). In concert with CIC and ATXN1L, involved in brain development (PubMed:28288114). {ECO:0000250|UniProtKB:P54253, ECO:0000269|PubMed:28288114}.
uniprot
proteins
mass_dalton
83793
uniprot
proteins
mutagenesis
MUTAGEN 771; /note="K->T: Abolishes nuclear localization. Inhibits development of ataxia."; /evidence="ECO:0000269|PubMed:9778246
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by UBE3A, leading to its degradation by the proteasome. The presence of poly-Gln repeats in trangenic models developed to replicate phenotypes of the spinocerebellar ataxia 1 disease (SCA1) impair ubiquitination and degradation, leading to accumulation of Atxn1 in neurons and subsequent toxicity. {ECO:0000269|PubMed:10624951}.; PTM: Sumoylation is dependent on nuclear localization and phosphorylation at Ser-751. {ECO:0000250|UniProtKB:P54253}.
uniprot
proteins
protein_family
ATXN1 family
uniprot
proteins
pubmed
10624951
uniprot
proteins
pubmed
12086639
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
17190598
uniprot
proteins
pubmed
17322884
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
25768905
uniprot
proteins
pubmed
28288114
uniprot
proteins
pubmed
8789437
uniprot
proteins
pubmed
9353121
uniprot
proteins
pubmed
9778246
uniprot
proteins
sequence_length
791
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P54253}. Nucleus {ECO:0000269|PubMed:9778246}. Note=Colocalizes with USP7 in the nucleus. {ECO:0000250|UniProtKB:P54253}.
uniprot
proteins