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UniProtKB - P54253 (ATX1_HUMAN)

Entry version 186 (13 Feb 2019)
Sequence version 2 (23 Sep 2008)
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Protein

Ataxin-1

Gene

ATXN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity).By similarity1 Publication

Miscellaneous

Self-association seems to be necessary for formation of nuclear aggregates which are associated with pathogenesis.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • identical protein binding Source: IntAct
  • poly(G) binding Source: UniProtKB
  • poly(U) RNA binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • protein self-association Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Repressor, RNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		P54253

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		P54253 Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ataxin-1
Alternative name(s):
Spinocerebellar ataxia type 1 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ATXN1
Synonyms:ATX1, SCA1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000124788.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:10548 ATXN1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601556 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P54253

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinocerebellar ataxia 1 (SCA1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by expansion of the polyglutamine tract to about 40-83 repeats, causing accumulation in neurons and exerting toxicity.2 Publications
Disease descriptionSpinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.
See also OMIM:164400

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi16K → R: Sumoylation reduced to 40% of wild-type. 1 Publication1
Mutagenesisi194K → R: Sumoylation reduced to 46% of wild-type. 1 Publication1
Mutagenesisi420K → R: No effect on sumoylation. 1 Publication1
Mutagenesisi529K → R: Sumoylation reduced to 57% of wild-type. 1 Publication1
Mutagenesisi589K → R: Sumoylation reduced to 53% of wild-type. 1 Publication1
Mutagenesisi594K → R: Sumoylation reduced to 68% of wild-type. 1 Publication1
Mutagenesisi609K → R: Sumoylation reduced to 43% of wild-type. 1 Publication1
Mutagenesisi691K → R: No effect on sumoylation. 1 Publication1
Mutagenesisi696K → R: Sumoylation reduced to 42% of wild-type. 1 Publication1
Mutagenesisi745K → R: Sumoylation reduced to 44% of wild-type. 1 Publication1
Mutagenesisi775S → A: Reduces phosphorylation but does not affect nuclear localization. 1 Publication1
Mutagenesisi784K → R: Sumoylation reduced to 62% of wild-type. 1 Publication1

Keywords - Diseasei

Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

More...DisGeNETi		6310

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ATXN1

MalaCards human disease database

More...MalaCardsi		ATXN1
MIMi164400 phenotype

Open Targets

More...OpenTargetsi		ENSG00000124788

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		98755 Spinocerebellar ataxia type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34958

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ATXN1

Domain mapping of disease mutations (DMDM)

More...DMDMi		206729854

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000647511 – 815Ataxin-1Add BLAST815

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki16Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei82PhosphoserineBy similarity1
Modified residuei88PhosphoserineCombined sources1
Cross-linki194Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei238PhosphoserineCombined sources1
Modified residuei253PhosphoserineBy similarity1
Cross-linki609Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Cross-linki696Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Cross-linki745Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei775Phosphoserine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated by UBE3A, leading to its degradation by the proteasome. The presence of expanded poly-Gln repeats in spinocerebellar ataxia 1 (SCA1) patients impairs ubiquitination and degradation, leading to accumulation of ATXN1 in neurons and subsequent toxicity.By similarity
Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract.1 Publication
Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of an expanded polyglutamine tract.2 Publications

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P54253

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P54253

MaxQB - The MaxQuant DataBase

More...MaxQBi		P54253

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P54253

PeptideAtlas

More...PeptideAtlasi		P54253

PRoteomics IDEntifications database

More...PRIDEi		P54253

ProteomicsDB human proteome resource

More...ProteomicsDBi		56658

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P54253

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P54253

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed throughout the body.1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000124788 Expressed in 244 organ(s), highest expression level in caudate nucleus

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P54253 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P54253 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA008335
HPA070756

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer (PubMed:9097953). Interacts with CIC (By similarity). Interacts with ANP32A, PQBP1, UBQLN4, ATXN1L and USP7 (PubMed:9353121, PubMed:11001934, PubMed:12062018, PubMed:12093161, PubMed:16121196). Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1L for RBPJ-binding (PubMed:21475249). Found in a complex with CIC and ATXN1L (By similarity).By similarity8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
itself9EBI-930964,EBI-930964
ARID5AQ039893EBI-930964,EBI-948603
ATXN2Q997004EBI-930964,EBI-697691
C1orf94Q6P1W58EBI-930964,EBI-946029
CCNKO759092EBI-930964,EBI-739806
CFL1P235285EBI-930964,EBI-352733
CICQ96RK06EBI-930964,EBI-945857
COILP384326EBI-930975,EBI-945751
CPSF7Q8N6842EBI-930964,EBI-746909
CRKP461083EBI-930964,EBI-886
DAZAP2Q150382EBI-930964,EBI-724310
ELP5Q8TE022EBI-930964,EBI-946189
ESRP1Q6NXG15EBI-930964,EBI-10213520
GMEB2Q9UKD14EBI-930964,EBI-948296
GPATCH8Q9UKJ34EBI-930964,EBI-948259
HIVEP1P158226EBI-930964,EBI-722264
HSFX2Q9UBD03EBI-930964,EBI-947253
IST1P539902EBI-930964,EBI-945994
KAT5Q929933EBI-930964,EBI-399080
KLHL12Q53G592EBI-930964,EBI-740929
METTL17Q9H7H05EBI-930964,EBI-749353
NUDT21O438092EBI-930964,EBI-355720
PLEKHA5Q9HAU02EBI-930964,EBI-945934
POGZQ7Z3K34EBI-930964,EBI-1389308
PRR20CP864793EBI-930964,EBI-10172814
PRRC2AP486344EBI-930964,EBI-347545
RBFOX1Q9NWB12EBI-930964,EBI-945906
RBFOX2O4325110EBI-930964,EBI-746056
RBM17Q96I255EBI-930964,EBI-740272
RBPJQ063307EBI-930964,EBI-632552
RBPMSQ930626EBI-930964,EBI-740322
RBPMSQ93062-34EBI-930964,EBI-740343
RCN1Q152933EBI-930964,EBI-948278
RELQ048643EBI-930964,EBI-307352
RHOXF2Q9BQY44EBI-930964,EBI-372094
SIX5Q8N1964EBI-930964,EBI-946167
SYBUQ9NX953EBI-930964,EBI-948293
TBC1D5Q926092EBI-930964,EBI-742381
TBX15Q96SF73EBI-930964,EBI-10191361
TENT5BQ96A094EBI-930964,EBI-752030
TRAF2Q129337EBI-930964,EBI-355744
TRIM32Q130492EBI-930964,EBI-742790
U2AF2P263684EBI-930964,EBI-742339
UBQLN4Q9NRR56EBI-930964,EBI-711226
USP54Q70EL13EBI-930964,EBI-946185
VSTM2LQ96N033EBI-930964,EBI-948213
YY1AP1Q9H8694EBI-930964,EBI-946122
ZBTB32A0A0C4DGF14EBI-930964,EBI-10188476
ZC3H10Q96K804EBI-930964,EBI-742550
ZHX1Q9UKY15EBI-930964,EBI-347767
ZNF488Q96MN95EBI-930964,EBI-948288

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		112217, 256 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P54253

Database of interacting proteins

More...DIPi		DIP-35353N

Protein interaction database and analysis system

More...IntActi		P54253, 282 interactors

Molecular INTeraction database

More...MINTi		P54253

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000244769

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1815
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OA8X-ray1.70A/B/C/D562-693[»]
2M41NMR-B566-688[»]
4APTX-ray2.50A/B/C/D566-688[»]
4AQPX-ray2.45A/B/C/D566-688[»]
4J2JX-ray2.50A/B/C562-688[»]
4J2LX-ray3.15A/B562-688[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P54253

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P54253

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P54253

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini562 – 693AXHPROSITE-ProRule annotationAdd BLAST132

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni494 – 604Self-association1 PublicationAdd BLAST111
Regioni538 – 815Interaction with USP71 PublicationAdd BLAST278
Regioni540 – 766RNA-binding1 PublicationAdd BLAST227

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi794 – 797Nuclear localization signalBy similarity4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi197 – 225Poly-GlnAdd BLAST29

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The AXH domain is required for interaction with CIC.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ATXN1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4053 Eukaryota
ENOG410XSNX LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005939

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000034225

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG004319

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P54253

Identification of Orthologs from Complete Genome Data

More...OMAi		VQYTDSG

Database of Orthologous Groups

More...OrthoDBi		249631at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P54253

TreeFam database of animal gene trees

More...TreeFami		TF350643

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003652 Ataxin_AXH_dom
IPR036096 Ataxin_AXH_dom_sf
IPR040172 ATXN1
IPR020997 Capicua_tscrpt_rep_mod

The PANTHER Classification System

More...PANTHERi		PTHR13392:SF5 PTHR13392:SF5, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12547 ATXN-1_C, 1 hit
PF08517 AXH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00536 AXH, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF102031 SSF102031, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51148 AXH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 1 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoform i produced by alternative splicing. AlignAdd to basket
Note: At least 2 isoforms are produced.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P54253-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKSNQERSNE CLPPKKREIP ATSRSSEEKA PTLPSDNHRV EGTAWLPGNP 
        60         70         80         90        100
GGRGHGGGRH GPAGTSVELG LQQGIGLHKA LSTGLDYSPP SAPRSVPVAT 
       110        120        130        140        150
TLPAAYATPQ PGTPVSPVQY AHLPHTFQFI GSSQYSGTYA SFIPSQLIPP 
       160        170        180        190        200
TANPVTSAVA SAAGATTPSQ RSQLEAYSTL LANMGSLSQT PGHKAEQQQQ 
       210        220        230        240        250
QQQQQQQQHQ HQQQQQQQQQ QQQQQHLSRA PGLITPGSPP PAQQNQYVHI 
       260        270        280        290        300
SSSPQNTGRT ASPPAIPVHL HPHQTMIPHT LTLGPPSQVV MQYADSGSHF 
       310        320        330        340        350
VPREATKKAE SSRLQQAIQA KEVLNGEMEK SRRYGAPSSA DLGLGKAGGK 
       360        370        380        390        400
SVPHPYESRH VVVHPSPSDY SSRDPSGVRA SVMVLPNSNT PAADLEVQQA 
       410        420        430        440        450
THREASPSTL NDKSGLHLGK PGHRSYALSP HTVIQTTHSA SEPLPVGLPA 
       460        470        480        490        500
TAFYAGTQPP VIGYLSGQQQ AITYAGSLPQ HLVIPGTQPL LIPVGSTDME 
       510        520        530        540        550
ASGAAPAIVT SSPQFAAVPH TFVTTALPKS ENFNPEALVT QAAYPAMVQA 
       560        570        580        590        600
QIHLPVVQSV ASPAAAPPTL PPYFMKGSII QLANGELKKV EDLKTEDFIQ 
       610        620        630        640        650
SAEISNDLKI DSSTVERIED SHSPGVAVIQ FAVGEHRAQV SVEVLVEYPF 
       660        670        680        690        700
FVFGQGWSSC CPERTSQLFD LPCSKLSVGD VCISLTLKNL KNGSVKKGQP 
       710        720        730        740        750
VDPASVLLKH SKADGLAGSR HRYAEQENGI NQGSAQMLSE NGELKFPEKM 
       760        770        780        790        800
GLPAAPFLTK IEPSKPAATR KRRWSAPESR KLEKSEDEPP LTLPKPSLIP 
       810 
QEVKICIEGR SNVGK
Length:815
Mass (Da):86,923
Last modified:September 23, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i657876F8FD19ECB2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8YCF3A0A2R8YCF3_HUMAN
Ataxin-1
ATXN1
185Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti211H → HQ in CAA55793 (PubMed:7951322).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

The poly-Gln region of ATXN1 is highly polymorphic (4 to 39 repeats) in the normal population and is expanded to about 40-83 repeats in spinocerebellar ataxia 1 (SCA1) patients.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_046616209H → Q. Corresponds to variant dbSNP:rs11969612Ensembl.1
Natural variantiVAR_046617753P → S. Corresponds to variant dbSNP:rs16885EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X79204 mRNA Translation: CAA55793.1
AL009031 Genomic DNA No translation available.
BC117125 mRNA Translation: AAI17126.1
S82497 Genomic DNA Translation: AAD14401.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34342.1 [P54253-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S46268

NCBI Reference Sequences

More...RefSeqi		NP_000323.2, NM_000332.3 [P54253-1]
NP_001121636.1, NM_001128164.1 [P54253-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.434961
Hs.682684

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000244769; ENSP00000244769; ENSG00000124788 [P54253-1]
ENST00000436367; ENSP00000416360; ENSG00000124788 [P54253-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6310

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6310

UCSC genome browser

More...UCSCi		uc003nbt.4 human [P54253-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Ataxin-1 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X79204 mRNA Translation: CAA55793.1
AL009031 Genomic DNA No translation available.
BC117125 mRNA Translation: AAI17126.1
S82497 Genomic DNA Translation: AAD14401.1
CCDSiCCDS34342.1 [P54253-1]
PIRiS46268
RefSeqiNP_000323.2, NM_000332.3 [P54253-1]
NP_001121636.1, NM_001128164.1 [P54253-1]
UniGeneiHs.434961
Hs.682684

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1OA8X-ray1.70A/B/C/D562-693[»]
2M41NMR-B566-688[»]
4APTX-ray2.50A/B/C/D566-688[»]
4AQPX-ray2.45A/B/C/D566-688[»]
4J2JX-ray2.50A/B/C562-688[»]
4J2LX-ray3.15A/B562-688[»]
ProteinModelPortaliP54253
SMRiP54253
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112217, 256 interactors
CORUMiP54253
DIPiDIP-35353N
IntActiP54253, 282 interactors
MINTiP54253
STRINGi9606.ENSP00000244769

Protein family/group databases

MoonDBiP54253 Predicted

PTM databases

iPTMnetiP54253
PhosphoSitePlusiP54253

Polymorphism and mutation databases

BioMutaiATXN1
DMDMi206729854

Proteomic databases

EPDiP54253
jPOSTiP54253
MaxQBiP54253
PaxDbiP54253
PeptideAtlasiP54253
PRIDEiP54253
ProteomicsDBi56658

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000244769; ENSP00000244769; ENSG00000124788 [P54253-1]
ENST00000436367; ENSP00000416360; ENSG00000124788 [P54253-1]
GeneIDi6310
KEGGihsa:6310
UCSCiuc003nbt.4 human [P54253-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6310
DisGeNETi6310
EuPathDBiHostDB:ENSG00000124788.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		ATXN1
GeneReviewsiATXN1

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0032878
HGNCiHGNC:10548 ATXN1
HPAiHPA008335
HPA070756
MalaCardsiATXN1
MIMi164400 phenotype
601556 gene
neXtProtiNX_P54253
OpenTargetsiENSG00000124788
Orphaneti98755 Spinocerebellar ataxia type 1
PharmGKBiPA34958

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4053 Eukaryota
ENOG410XSNX LUCA
GeneTreeiENSGT00390000005939
HOGENOMiHOG000034225
HOVERGENiHBG004319
InParanoidiP54253
OMAiVQYTDSG
OrthoDBi249631at2759
PhylomeDBiP54253
TreeFamiTF350643

Enzyme and pathway databases

SIGNORiP54253

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ATXN1 human
EvolutionaryTraceiP54253

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Ataxin_1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6310

Protein Ontology

More...PROi		PR:P54253

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000124788 Expressed in 244 organ(s), highest expression level in caudate nucleus
ExpressionAtlasiP54253 baseline and differential
GenevisibleiP54253 HS

Family and domain databases

InterProiView protein in InterPro
IPR003652 Ataxin_AXH_dom
IPR036096 Ataxin_AXH_dom_sf
IPR040172 ATXN1
IPR020997 Capicua_tscrpt_rep_mod
PANTHERiPTHR13392:SF5 PTHR13392:SF5, 1 hit
PfamiView protein in Pfam
PF12547 ATXN-1_C, 1 hit
PF08517 AXH, 1 hit
SMARTiView protein in SMART
SM00536 AXH, 1 hit
SUPFAMiSSF102031 SSF102031, 1 hit
PROSITEiView protein in PROSITE
PS51148 AXH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiATX1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P54253
Secondary accession number(s): Q17S02, Q9UJG2, Q9Y4J1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: September 23, 2008
Last modified: February 13, 2019
This is version 186 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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