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P54254 (ATX1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ataxin-1
Alternative name(s):
Spinocerebellar ataxia type 1 protein homolog
Gene names
Name:Atxn1
Synonyms:Sca1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length791 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

Homooligomer By similarity. Interacts with PQBP1, UBQLN4 and USP7 By similarity. Interacts with ANP32A. Interacts with CIC and ATXN1L. Interacts with ZNF804A By similarity. Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1L for RBPJ-binding By similarity. Ref.5 Ref.6 Ref.7

Subcellular location

Cytoplasm By similarity. Nucleus. Note: Colocalizes with USP7 in the nucleus By similarity. Ref.4

Tissue specificity

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

Developmental stage

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.

Domain

The AXH domain is required for interaction with CIC.

Post-translational modification

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

Polymorphism

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

Sequence similarities

Belongs to the ATXN1 family.

Contains 1 AXH domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   LigandDNA-binding
RNA-binding
   Molecular functionRepressor
   PTMIsopeptide bond
Phosphoprotein
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadult locomotory behavior

Inferred from mutant phenotype PubMed 9651231. Source: MGI

negative regulation of insulin-like growth factor receptor signaling pathway

Inferred from mutant phenotype PubMed 18216249. Source: MGI

negative regulation of phosphorylation

Inferred from mutant phenotype PubMed 18216249. Source: MGI

negative regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

nuclear export

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from mutant phenotype PubMed 18216249. Source: MGI

regulation of excitatory postsynaptic membrane potential

Inferred from mutant phenotype PubMed 9651231. Source: MGI

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

visual learning

Inferred from mutant phenotype PubMed 9651231. Source: MGI

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

nuclear inclusion body

Inferred from sequence or structural similarity. Source: UniProtKB

nuclear matrix

Inferred from sequence or structural similarity. Source: UniProtKB

nucleoplasm

Inferred from sequence or structural similarity. Source: UniProtKB

nucleus

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

RNA binding

Inferred from direct assay PubMed 15615787. Source: MGI

poly(G) binding

Inferred from sequence or structural similarity. Source: UniProtKB

poly(U) RNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

protein C-terminus binding

Inferred from sequence or structural similarity. Source: UniProtKB

protein binding

Inferred from physical interaction PubMed 17110330. Source: IntAct

protein self-association

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 791791Ataxin-1
PRO_0000064752

Regions

Domain538 – 669132AXH
Region470 – 580111Self-association By similarity
Region514 – 791278Interaction with USP7 By similarity
Region516 – 742227RNA-binding By similarity
Motif770 – 7734Nuclear localization signal
Compositional bias214 – 2174Poly-Pro

Amino acid modifications

Modified residue2131Phosphoserine By similarity
Modified residue7511Phosphoserine By similarity
Cross-link16Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity
Cross-link193Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity
Cross-link585Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity
Cross-link672Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity
Cross-link721Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO) By similarity

Experimental info

Mutagenesis7711K → T: Abolishes nuclear localization. Inhibits development of ataxia. Ref.4
Sequence conflict81S → T in CAA58533. Ref.1
Sequence conflict771H → L in CAA58533. Ref.1
Sequence conflict393 – 3953HLG → APR in CAA58533. Ref.1
Sequence conflict4771T → M in CAA58533. Ref.1
Sequence conflict5191A → S in CAA58533. Ref.1
Sequence conflict5871D → H in CAA58533. Ref.1
Sequence conflict6871A → V in CAA58533. Ref.1
Sequence conflict7491R → RR in CAA58533. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P54254 [UniParc].

Last modified March 23, 2010. Version 2.
Checksum: 1F87A5D65527D550

FASTA79183,793
        10         20         30         40         50         60 
MKSNQERSNE CLPPKKREIP ATSRPSEEKA TALPSDNHCV EGVAWLPSTP GIRGHGGGRH 

        70         80         90        100        110        120 
GSAGTSGEHG LQGMGLHKAL SAGLDYSPPS APRSVPTANT LPTVYPPPQS GTPVSPVQYA 

       130        140        150        160        170        180 
HLSHTFQFIG SSQYSGPYAG FIPSQLISPS GNPVTSAVAS AAGATTPSQR SQLEAYSTLL 

       190        200        210        220        230        240 
ANMGSLSQAP GHKVEPPPQQ HLSRAAGLVN PGSPPPPTQQ NQYIHISSSP QSSGRATSPP 

       250        260        270        280        290        300 
PIPVHLHPHQ TMIPHTLTLG PSSQVVVQYS DAGGHFVPRE STKKAESSRL QQAMQAKEVL 

       310        320        330        340        350        360 
NGEMEKSRRY GASSSVELSL GKASSKSVPH PYESRHVVVH PSPADYSSRD TSGVRGSVMV 

       370        380        390        400        410        420 
LPNSSTPSAD LEAQQTTHRE ASPSTLNDKS GLHLGKPGHR SYALSPHTVI QTTHSASEPL 

       430        440        450        460        470        480 
PVGLPATAFY AGTQPPVIGY LSGQQQAITY AGGLPQHLVI PGNQPLLIPV GSPDMDTPGA 

       490        500        510        520        530        540 
ASAIVTSSPQ FAAVPHTFVT TALPKSENFN PEALVTQAAY PAMVQAQIHL PVVQSVASPT 

       550        560        570        580        590        600 
TASPTLPPYF MKGSIIQLAN GELKKVEDLK TEDFIQSAEI SNDLKIDSST VERIEESHSP 

       610        620        630        640        650        660 
GVAVIQFAVG EHRAQVSVEV LVEYPFFVFG QGWSSCCPER TSQLFDLPCS KLSVGDVCIS 

       670        680        690        700        710        720 
LTLKNLKNGS VKKGQPVDPA SVLLKQAKTD SLAGSRHRYA EQENGINQGS AQVLSENGEL 

       730        740        750        760        770        780 
KFPEKIGLPA APFLSKIEPS KPTATRKRRW SAPETRKLEK SEDEPPLTLP KPSLIPQEVK 

       790 
ICIEGRSNVG K 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1)."
Banfi S., Servadio A., Chung M.-Y., Capozzoli F., Duvick L.A., Elde R., Zoghbi H.Y., Orr H.T.
Hum. Mol. Genet. 5:33-40(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Strain: C57BL/6 X CBA.
Tissue: Brain, Retina and Thymus.
[2]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Strain: C57BL/6J.
Tissue: Embryonic head.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Strain: NMRI.
Tissue: Mammary tumor.
[4]"Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice."
Klement I.A., Skinner P.J., Kaytor M.D., Yi H., Hersch S.M., Clark H.B., Zoghbi H.Y., Orr H.T.
Cell 95:41-53(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-771.
[5]"The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1."
Matilla A., Koshy B.T., Cummings C.J., Isobe T., Orr H.T., Zoghbi H.Y.
Nature 389:974-978(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ANP32A.
[6]"ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology."
Lam Y.C., Bowman A.B., Jafar-Nejad P., Lim J., Richman R., Fryer J.D., Hyun E.D., Duvick L.A., Orr H.T., Botas J., Zoghbi H.Y.
Cell 127:1335-1347(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH CIC.
[7]"Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes."
Bowman A.B., Lam Y.C., Jafar-Nejad P., Chen H.-K., Richman R., Samaco R.C., Fryer J.D., Kahle J.J., Orr H.T., Zoghbi H.Y.
Nat. Genet. 39:373-379(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ATXN1L.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X83542 mRNA. Translation: CAA58533.1.
AK048268 mRNA. Translation: BAC33290.1.
BC058178 mRNA. Translation: AAH58178.1.
CCDSCCDS26483.1.
RefSeqNP_001186233.1. NM_001199304.1.
NP_001186234.1. NM_001199305.1.
NP_033150.2. NM_009124.6.
XP_006516944.1. XM_006516881.1.
UniGeneMm.342683.
Mm.342686.
Mm.486641.
Mm.487047.

3D structure databases

ProteinModelPortalP54254.
SMRP54254. Positions 549-669.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid203083. 2 interactions.
DIPDIP-6004N.
IntActP54254. 3 interactions.
MINTMINT-4114755.
STRING10090.ENSMUSP00000089217.

PTM databases

PhosphoSiteP54254.

Proteomic databases

PaxDbP54254.
PRIDEP54254.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000091628; ENSMUSP00000089217; ENSMUSG00000046876.
ENSMUST00000167708; ENSMUSP00000129890; ENSMUSG00000046876.
GeneID20238.
KEGGmmu:20238.
UCSCuc011yyv.2. mouse.

Organism-specific databases

CTD6310.
MGIMGI:104783. Atxn1.

Phylogenomic databases

eggNOGNOG306883.
GeneTreeENSGT00390000005939.
HOGENOMHOG000034225.
HOVERGENHBG004319.
InParanoidQ8C866.
PhylomeDBP54254.

Gene expression databases

BgeeP54254.
CleanExMM_ATXN1.
GenevestigatorP54254.

Family and domain databases

InterProIPR013723. Ataxin-1_HBP1.
IPR003652. Ataxin_AXH_dom.
IPR020997. Capicua_tscrpt_rep_mod.
[Graphical view]
PfamPF12547. ATXN-1_C. 1 hit.
PF08517. AXH. 1 hit.
[Graphical view]
SMARTSM00536. AXH. 1 hit.
[Graphical view]
SUPFAMSSF102031. SSF102031. 1 hit.
PROSITEPS51148. AXH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSATXN1. mouse.
NextBio297881.
PROP54254.
SOURCESearch...

Entry information

Entry nameATX1_MOUSE
AccessionPrimary (citable) accession number: P54254
Secondary accession number(s): Q8C866
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: March 23, 2010
Last modified: July 9, 2014
This is version 118 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot