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Protein

Ataxin-1

Gene

Atxn1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  • chromatin binding Source: MGI
  • DNA binding Source: UniProtKB-KW
  • identical protein binding Source: MGI
  • poly(G) binding Source: UniProtKB
  • poly(U) RNA binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • protein self-association Source: UniProtKB
  • RNA binding Source: MGI

GO - Biological processi

  • adult locomotory behavior Source: MGI
  • excitatory postsynaptic potential Source: MGI
  • lung alveolus development Source: MGI
  • negative regulation of insulin-like growth factor receptor signaling pathway Source: MGI
  • negative regulation of phosphorylation Source: MGI
  • negative regulation of transcription, DNA-templated Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: MGI
  • nuclear export Source: UniProtKB
  • positive regulation of glial cell proliferation Source: MGI
  • positive regulation of transcription from RNA polymerase II promoter Source: MGI
  • transcription, DNA-templated Source: UniProtKB-KW
  • visual learning Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, RNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Ataxin-1
Alternative name(s):
Spinocerebellar ataxia type 1 protein homolog
Gene namesi
Name:Atxn1
Synonyms:Sca1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 13

Organism-specific databases

MGIiMGI:104783. Atxn1.

Subcellular locationi

  • Cytoplasm By similarity
  • Nucleus 1 Publication

  • Note: Colocalizes with USP7 in the nucleus.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi771K → T: Abolishes nuclear localization. Inhibits development of ataxia. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000647521 – 791Ataxin-1Add BLAST791

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki16Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei81PhosphoserineCombined sources1
Modified residuei87PhosphoserineCombined sources1
Cross-linki193Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei213PhosphoserineCombined sources1
Modified residuei218PhosphothreonineCombined sources1
Modified residuei229PhosphoserineCombined sources1
Cross-linki585Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Cross-linki672Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Cross-linki721Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei751PhosphoserineBy similarity1

Post-translational modificationi

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.1 Publication
Sumoylation is dependent on nuclear localization and phosphorylation at Ser-751.By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP54254.
MaxQBiP54254.
PaxDbiP54254.
PRIDEiP54254.

PTM databases

iPTMnetiP54254.
PhosphoSitePlusiP54254.

Expressioni

Tissue specificityi

Widely expressed. In brain, the pattern of distribution is limited to neuron populations.1 Publication

Developmental stagei

Transient expression burst in Purkinje cells as the cerebellar cortex becomes functional (postnatal day 14), and in mesenchymal cells of the developing intervertebral disks of the spinal column.1 Publication

Inductioni

Atxn1 protein levels are directly regulated by Pum1 protein: Pum1 acts by binding to the 3'-UTR of Atxn1 mRNA, affecting Atxn1 mRNA stability and leading to reduced Atxn1 protein levels.1 Publication

Gene expression databases

BgeeiENSMUSG00000046876.
CleanExiMM_ATXN1.
ExpressionAtlasiP54254. baseline and differential.
GenevisibleiP54254. MM.

Interactioni

Subunit structurei

Homooligomer (By similarity). Interacts with PQBP1, UBQLN4 and USP7 (By similarity). Interacts with ANP32A (PubMed:9353121). Interacts with CIC (PubMed:17190598). Interacts with ZNF804A (By similarity). Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Interacts with ATXN1L; competes with ATXN1L for RBPJ-binding (PubMed:17322884).By similarity3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Kat5Q8CHK42EBI-1169713,EBI-1169948
RoraP514483EBI-1169713,EBI-1169722

GO - Molecular functioni

Protein-protein interaction databases

BioGridi203083. 3 interactors.
DIPiDIP-6004N.
IntActiP54254. 3 interactors.
MINTiMINT-4114755.
STRINGi10090.ENSMUSP00000137439.

Structurei

3D structure databases

ProteinModelPortaliP54254.
SMRiP54254.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini538 – 669AXHPROSITE-ProRule annotationAdd BLAST132

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni470 – 580Self-associationBy similarityAdd BLAST111
Regioni514 – 791Interaction with USP7By similarityAdd BLAST278
Regioni516 – 742RNA-bindingBy similarityAdd BLAST227

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi770 – 773Nuclear localization signal1 Publication4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi214 – 217Poly-Pro4

Domaini

The AXH domain is required for interaction with CIC.1 Publication

Sequence similaritiesi

Belongs to the ATXN1 family.Curated
Contains 1 AXH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4053. Eukaryota.
ENOG410XSNX. LUCA.
GeneTreeiENSGT00390000005939.
HOGENOMiHOG000034225.
HOVERGENiHBG004319.
InParanoidiP54254.
PhylomeDBiP54254.

Family and domain databases

InterProiIPR003652. Ataxin_AXH_dom.
IPR020997. Capicua_tscrpt_rep_mod.
[Graphical view]
PfamiPF12547. ATXN-1_C. 1 hit.
PF08517. AXH. 1 hit.
[Graphical view]
SMARTiSM00536. AXH. 1 hit.
[Graphical view]
SUPFAMiSSF102031. SSF102031. 1 hit.
PROSITEiPS51148. AXH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P54254-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKSNQERSNE CLPPKKREIP ATSRPSEEKA TALPSDNHCV EGVAWLPSTP
60 70 80 90 100
GIRGHGGGRH GSAGTSGEHG LQGMGLHKAL SAGLDYSPPS APRSVPTANT
110 120 130 140 150
LPTVYPPPQS GTPVSPVQYA HLSHTFQFIG SSQYSGPYAG FIPSQLISPS
160 170 180 190 200
GNPVTSAVAS AAGATTPSQR SQLEAYSTLL ANMGSLSQAP GHKVEPPPQQ
210 220 230 240 250
HLSRAAGLVN PGSPPPPTQQ NQYIHISSSP QSSGRATSPP PIPVHLHPHQ
260 270 280 290 300
TMIPHTLTLG PSSQVVVQYS DAGGHFVPRE STKKAESSRL QQAMQAKEVL
310 320 330 340 350
NGEMEKSRRY GASSSVELSL GKASSKSVPH PYESRHVVVH PSPADYSSRD
360 370 380 390 400
TSGVRGSVMV LPNSSTPSAD LEAQQTTHRE ASPSTLNDKS GLHLGKPGHR
410 420 430 440 450
SYALSPHTVI QTTHSASEPL PVGLPATAFY AGTQPPVIGY LSGQQQAITY
460 470 480 490 500
AGGLPQHLVI PGNQPLLIPV GSPDMDTPGA ASAIVTSSPQ FAAVPHTFVT
510 520 530 540 550
TALPKSENFN PEALVTQAAY PAMVQAQIHL PVVQSVASPT TASPTLPPYF
560 570 580 590 600
MKGSIIQLAN GELKKVEDLK TEDFIQSAEI SNDLKIDSST VERIEESHSP
610 620 630 640 650
GVAVIQFAVG EHRAQVSVEV LVEYPFFVFG QGWSSCCPER TSQLFDLPCS
660 670 680 690 700
KLSVGDVCIS LTLKNLKNGS VKKGQPVDPA SVLLKQAKTD SLAGSRHRYA
710 720 730 740 750
EQENGINQGS AQVLSENGEL KFPEKIGLPA APFLSKIEPS KPTATRKRRW
760 770 780 790
SAPETRKLEK SEDEPPLTLP KPSLIPQEVK ICIEGRSNVG K
Length:791
Mass (Da):83,793
Last modified:March 23, 2010 - v2
Checksum:i1F87A5D65527D550
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti8S → T in CAA58533 (PubMed:8789437).Curated1
Sequence conflicti77H → L in CAA58533 (PubMed:8789437).Curated1
Sequence conflicti393 – 395HLG → APR in CAA58533 (PubMed:8789437).Curated3
Sequence conflicti477T → M in CAA58533 (PubMed:8789437).Curated1
Sequence conflicti519A → S in CAA58533 (PubMed:8789437).Curated1
Sequence conflicti587D → H in CAA58533 (PubMed:8789437).Curated1
Sequence conflicti687A → V in CAA58533 (PubMed:8789437).Curated1
Sequence conflicti749R → RR in CAA58533 (PubMed:8789437).Curated1

Polymorphismi

The murine poly-Gln region is very limited in comparison to human ATXN1 and is not polymorphic.2 Publications

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X83542 mRNA. Translation: CAA58533.1.
AK048268 mRNA. Translation: BAC33290.1.
BC058178 mRNA. Translation: AAH58178.1.
CCDSiCCDS26483.1.
RefSeqiNP_001186233.1. NM_001199304.1.
NP_001186234.1. NM_001199305.1.
NP_033150.2. NM_009124.6.
XP_011242683.1. XM_011244381.2.
XP_011242685.1. XM_011244383.2.
XP_011242687.1. XM_011244385.2.
XP_011242688.1. XM_011244386.2.
XP_011242689.1. XM_011244387.2.
XP_011242690.1. XM_011244388.1.
XP_011242691.1. XM_011244389.2.
XP_011242692.1. XM_011244390.2.
XP_011242693.1. XM_011244391.2.
XP_011242694.1. XM_011244392.1.
XP_011242695.1. XM_011244393.1.
XP_017170951.1. XM_017315462.1.
XP_017170952.1. XM_017315463.1.
UniGeneiMm.342683.
Mm.342686.
Mm.486641.
Mm.487047.

Genome annotation databases

EnsembliENSMUST00000091628; ENSMUSP00000089217; ENSMUSG00000046876.
ENSMUST00000167708; ENSMUSP00000129890; ENSMUSG00000046876.
GeneIDi20238.
KEGGimmu:20238.
UCSCiuc011yyv.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X83542 mRNA. Translation: CAA58533.1.
AK048268 mRNA. Translation: BAC33290.1.
BC058178 mRNA. Translation: AAH58178.1.
CCDSiCCDS26483.1.
RefSeqiNP_001186233.1. NM_001199304.1.
NP_001186234.1. NM_001199305.1.
NP_033150.2. NM_009124.6.
XP_011242683.1. XM_011244381.2.
XP_011242685.1. XM_011244383.2.
XP_011242687.1. XM_011244385.2.
XP_011242688.1. XM_011244386.2.
XP_011242689.1. XM_011244387.2.
XP_011242690.1. XM_011244388.1.
XP_011242691.1. XM_011244389.2.
XP_011242692.1. XM_011244390.2.
XP_011242693.1. XM_011244391.2.
XP_011242694.1. XM_011244392.1.
XP_011242695.1. XM_011244393.1.
XP_017170951.1. XM_017315462.1.
XP_017170952.1. XM_017315463.1.
UniGeneiMm.342683.
Mm.342686.
Mm.486641.
Mm.487047.

3D structure databases

ProteinModelPortaliP54254.
SMRiP54254.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi203083. 3 interactors.
DIPiDIP-6004N.
IntActiP54254. 3 interactors.
MINTiMINT-4114755.
STRINGi10090.ENSMUSP00000137439.

PTM databases

iPTMnetiP54254.
PhosphoSitePlusiP54254.

Proteomic databases

EPDiP54254.
MaxQBiP54254.
PaxDbiP54254.
PRIDEiP54254.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000091628; ENSMUSP00000089217; ENSMUSG00000046876.
ENSMUST00000167708; ENSMUSP00000129890; ENSMUSG00000046876.
GeneIDi20238.
KEGGimmu:20238.
UCSCiuc011yyv.2. mouse.

Organism-specific databases

CTDi6310.
MGIiMGI:104783. Atxn1.

Phylogenomic databases

eggNOGiKOG4053. Eukaryota.
ENOG410XSNX. LUCA.
GeneTreeiENSGT00390000005939.
HOGENOMiHOG000034225.
HOVERGENiHBG004319.
InParanoidiP54254.
PhylomeDBiP54254.

Miscellaneous databases

ChiTaRSiAtxn1. mouse.
PROiP54254.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000046876.
CleanExiMM_ATXN1.
ExpressionAtlasiP54254. baseline and differential.
GenevisibleiP54254. MM.

Family and domain databases

InterProiIPR003652. Ataxin_AXH_dom.
IPR020997. Capicua_tscrpt_rep_mod.
[Graphical view]
PfamiPF12547. ATXN-1_C. 1 hit.
PF08517. AXH. 1 hit.
[Graphical view]
SMARTiSM00536. AXH. 1 hit.
[Graphical view]
SUPFAMiSSF102031. SSF102031. 1 hit.
PROSITEiPS51148. AXH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiATX1_MOUSE
AccessioniPrimary (citable) accession number: P54254
Secondary accession number(s): Q8C866
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: March 23, 2010
Last modified: November 2, 2016
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Miscellaneous

Different transgenic mouse, containing a poly-Gln region insertion in position 199 have been developed to replicate phenotypes of the spinocerebellar ataxia 1 disease (SCA1) in human (PubMed:10624951, PubMed:12086639). Heterozygous mice with a poly-Gln of 92 residues [92Q] develop the ataxia typical of human SCA1. However, they show only the phenotype associated with dysfunctional Purkinje cells and usually live a normal lifespan (PubMed:10624951). Heterozygous mice with a poly-Gln of 154 residues [154Q] develop a progressive neurological disorder that resembles human SCA1, with motor incoordination, cognitive deficits, wasting, and premature death, accompanied by Purkinje cell loss and age-related hippocampal synaptic dysfunction (PubMed:12086639). Phenotypes are caused by an accumulation of Atxn1 in neurons, exerting toxicity. The expanded poly-Gln tract causes stabilization of Atxn1 and impairs its ubiquitination and subsequent degradation, increasing its abundance in neurons (PubMed:10624951).3 Publications

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.