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P54254

- ATX1_MOUSE

UniProt

P54254 - ATX1_MOUSE

Protein

Ataxin-1

Gene

Atxn1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 2 (23 Mar 2010)
      Previous versions | rss
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    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

    1. chromatin binding Source: MGI
    2. DNA binding Source: UniProtKB-KW
    3. poly(G) binding Source: UniProtKB
    4. poly(U) RNA binding Source: UniProtKB
    5. protein binding Source: IntAct
    6. protein C-terminus binding Source: UniProtKB
    7. protein self-association Source: UniProtKB
    8. RNA binding Source: MGI

    GO - Biological processi

    1. adult locomotory behavior Source: MGI
    2. lung alveolus development Source: MGI
    3. negative regulation of insulin-like growth factor receptor signaling pathway Source: MGI
    4. negative regulation of phosphorylation Source: MGI
    5. negative regulation of transcription, DNA-templated Source: UniProtKB
    6. negative regulation of transcription from RNA polymerase II promoter Source: MGI
    7. nuclear export Source: UniProtKB
    8. positive regulation of transcription from RNA polymerase II promoter Source: MGI
    9. regulation of excitatory postsynaptic membrane potential Source: MGI
    10. transcription, DNA-templated Source: UniProtKB-KW
    11. visual learning Source: MGI

    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
    ProteomesiUP000000589: 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

    1. cytoplasm Source: UniProtKB
    2. nuclear inclusion body Source: UniProtKB
    3. nuclear matrix Source: UniProtKB
    4. nucleoplasm Source: UniProtKB
    5. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi771 – 7711K → T: Abolishes nuclear localization. Inhibits development of ataxia. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 791791Ataxin-1PRO_0000064752Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki16 – 16Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
    Cross-linki193 – 193Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
    Modified residuei213 – 2131PhosphoserineBy similarity
    Cross-linki585 – 585Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
    Cross-linki672 – 672Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
    Cross-linki721 – 721Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
    Modified residuei751 – 7511PhosphoserineBy similarity

    Post-translational modificationi

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

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    PaxDbiP54254.
    PRIDEiP54254.

    PTM databases

    PhosphoSiteiP54254.

    Expressioni

    Tissue specificityi

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

    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.

    Gene expression databases

    BgeeiP54254.
    CleanExiMM_ATXN1.
    GenevestigatoriP54254.

    Interactioni

    Subunit structurei

    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.By similarity

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi203083. 2 interactions.
    DIPiDIP-6004N.
    IntActiP54254. 3 interactions.
    MINTiMINT-4114755.
    STRINGi10090.ENSMUSP00000089217.

    Structurei

    3D structure databases

    ProteinModelPortaliP54254.
    SMRiP54254. Positions 549-669.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini538 – 669132AXHPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni470 – 580111Self-associationBy similarityAdd
    BLAST
    Regioni514 – 791278Interaction with USP7By similarityAdd
    BLAST
    Regioni516 – 742227RNA-bindingBy similarityAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi770 – 7734Nuclear localization signal

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi214 – 2174Poly-Pro

    Domaini

    The AXH domain is required for interaction with CIC.

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG306883.
    GeneTreeiENSGT00390000005939.
    HOGENOMiHOG000034225.
    HOVERGENiHBG004319.
    InParanoidiQ8C866.
    PhylomeDBiP54254.

    Family and domain databases

    InterProiIPR013723. Ataxin-1_HBP1.
    IPR003652. 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

    MKSNQERSNE CLPPKKREIP ATSRPSEEKA TALPSDNHCV EGVAWLPSTP    50
    GIRGHGGGRH GSAGTSGEHG LQGMGLHKAL SAGLDYSPPS APRSVPTANT 100
    LPTVYPPPQS GTPVSPVQYA HLSHTFQFIG SSQYSGPYAG FIPSQLISPS 150
    GNPVTSAVAS AAGATTPSQR SQLEAYSTLL ANMGSLSQAP GHKVEPPPQQ 200
    HLSRAAGLVN PGSPPPPTQQ NQYIHISSSP QSSGRATSPP PIPVHLHPHQ 250
    TMIPHTLTLG PSSQVVVQYS DAGGHFVPRE STKKAESSRL QQAMQAKEVL 300
    NGEMEKSRRY GASSSVELSL GKASSKSVPH PYESRHVVVH PSPADYSSRD 350
    TSGVRGSVMV LPNSSTPSAD LEAQQTTHRE ASPSTLNDKS GLHLGKPGHR 400
    SYALSPHTVI QTTHSASEPL PVGLPATAFY AGTQPPVIGY LSGQQQAITY 450
    AGGLPQHLVI PGNQPLLIPV GSPDMDTPGA ASAIVTSSPQ FAAVPHTFVT 500
    TALPKSENFN PEALVTQAAY PAMVQAQIHL PVVQSVASPT TASPTLPPYF 550
    MKGSIIQLAN GELKKVEDLK TEDFIQSAEI SNDLKIDSST VERIEESHSP 600
    GVAVIQFAVG EHRAQVSVEV LVEYPFFVFG QGWSSCCPER TSQLFDLPCS 650
    KLSVGDVCIS LTLKNLKNGS VKKGQPVDPA SVLLKQAKTD SLAGSRHRYA 700
    EQENGINQGS AQVLSENGEL KFPEKIGLPA APFLSKIEPS KPTATRKRRW 750
    SAPETRKLEK SEDEPPLTLP KPSLIPQEVK ICIEGRSNVG K 791
    Length:791
    Mass (Da):83,793
    Last modified:March 23, 2010 - v2
    Checksum:i1F87A5D65527D550
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti8 – 81S → T in CAA58533. (PubMed:8789437)Curated
    Sequence conflicti77 – 771H → L in CAA58533. (PubMed:8789437)Curated
    Sequence conflicti393 – 3953HLG → APR in CAA58533. (PubMed:8789437)Curated
    Sequence conflicti477 – 4771T → M in CAA58533. (PubMed:8789437)Curated
    Sequence conflicti519 – 5191A → S in CAA58533. (PubMed:8789437)Curated
    Sequence conflicti587 – 5871D → H in CAA58533. (PubMed:8789437)Curated
    Sequence conflicti687 – 6871A → V in CAA58533. (PubMed:8789437)Curated
    Sequence conflicti749 – 7491R → RR in CAA58533. (PubMed:8789437)Curated

    Polymorphismi

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

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_006516944.1. XM_006516881.1.
    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X83542 mRNA. Translation: CAA58533.1 .
    AK048268 mRNA. Translation: BAC33290.1 .
    BC058178 mRNA. Translation: AAH58178.1 .
    CCDSi CCDS26483.1.
    RefSeqi NP_001186233.1. NM_001199304.1.
    NP_001186234.1. NM_001199305.1.
    NP_033150.2. NM_009124.6.
    XP_006516944.1. XM_006516881.1.
    UniGenei Mm.342683.
    Mm.342686.
    Mm.486641.
    Mm.487047.

    3D structure databases

    ProteinModelPortali P54254.
    SMRi P54254. Positions 549-669.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 203083. 2 interactions.
    DIPi DIP-6004N.
    IntActi P54254. 3 interactions.
    MINTi MINT-4114755.
    STRINGi 10090.ENSMUSP00000089217.

    PTM databases

    PhosphoSitei P54254.

    Proteomic databases

    PaxDbi P54254.
    PRIDEi P54254.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000091628 ; ENSMUSP00000089217 ; ENSMUSG00000046876 .
    ENSMUST00000167708 ; ENSMUSP00000129890 ; ENSMUSG00000046876 .
    GeneIDi 20238.
    KEGGi mmu:20238.
    UCSCi uc011yyv.2. mouse.

    Organism-specific databases

    CTDi 6310.
    MGIi MGI:104783. Atxn1.

    Phylogenomic databases

    eggNOGi NOG306883.
    GeneTreei ENSGT00390000005939.
    HOGENOMi HOG000034225.
    HOVERGENi HBG004319.
    InParanoidi Q8C866.
    PhylomeDBi P54254.

    Miscellaneous databases

    ChiTaRSi ATXN1. mouse.
    NextBioi 297881.
    PROi P54254.
    SOURCEi Search...

    Gene expression databases

    Bgeei P54254.
    CleanExi MM_ATXN1.
    Genevestigatori P54254.

    Family and domain databases

    InterProi IPR013723. Ataxin-1_HBP1.
    IPR003652. Ataxin_AXH_dom.
    IPR020997. Capicua_tscrpt_rep_mod.
    [Graphical view ]
    Pfami PF12547. ATXN-1_C. 1 hit.
    PF08517. AXH. 1 hit.
    [Graphical view ]
    SMARTi SM00536. AXH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF102031. SSF102031. 1 hit.
    PROSITEi PS51148. AXH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.

    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: October 1, 2014
    This is version 119 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    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

    External Data

    Dasty 3