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P54254

- ATX1_MOUSE

UniProt

P54254 - ATX1_MOUSE

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Protein

Ataxin-1

Gene

Atxn1

Organism
Mus musculus (Mouse)
Status
Reviewed - 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

  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 C-terminus binding Source: UniProtKB
  6. protein self-association Source: UniProtKB
  7. 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
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
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
Complete GO annotation...

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

MaxQBiP54254.
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.
ExpressionAtlasiP54254. baseline and differential.
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. 3 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.
InParanoidiP54254.
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

        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)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:
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_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:
EMBLi
GenBanki
DDBJi
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. 3 interactions.
DIPi DIP-6004N.
IntActi P54254. 3 interactions.
MINTi MINT-4114755.
STRINGi 10090.ENSMUSP00000089217.

PTM databases

PhosphoSitei P54254.

Proteomic databases

MaxQBi P54254.
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 P54254.
PhylomeDBi P54254.

Miscellaneous databases

ChiTaRSi Atxn1. mouse.
NextBioi 297881.
PROi P54254.
SOURCEi Search...

Gene expression databases

Bgeei P54254.
CleanExi MM_ATXN1.
ExpressionAtlasi P54254. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 121 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