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UniProtKB - P54252 (ATX3_HUMAN)

Protein

Ataxin-3

Gene

ATXN3

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

Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:16118278). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460).By similarity5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).1 Publication EC:3.4.19.12

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei14Nucleophile1 Publication1
Active sitei119Proton acceptor2 Publications1
Active sitei1342 Publications1

<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

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 functionHydrolase, Protease, Thiol protease
Biological processTranscription, Transcription regulation, Ubl conjugation pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5689877 Josephin domain DUBs

Protein family/group databases

MEROPS protease database

More...MEROPSi		C86.001

<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-3 (EC:3.4.19.12)
Alternative name(s):
Machado-Joseph disease protein 1
Spinocerebellar ataxia type 3 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:ATXN3
Synonyms:ATX3, MJD, MJD1, SCA3
<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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000066427.21

Human Gene Nomenclature Database

More...HGNCi		HGNC:7106 ATXN3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607047 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P54252

<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

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 3 (SCA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
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. SCA3 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. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.
See also OMIM:109150

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>Mutagenesisi14C → A: Loss of deubiquitination activity. 2 Publications1
Mutagenesisi236S → A: Inhibits substrate trapping. 1 Publication1
Mutagenesisi256S → A: Inhibits substrate trapping. 1 Publication1
Mutagenesisi335S → A: No effect on ubiquitination. 1 Publication1

Keywords - Diseasei

Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

More...DisGeNETi		4287

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

More...GeneReviewsi		ATXN3

MalaCards human disease database

More...MalaCardsi		ATXN3
MIMi109150 phenotype

Open Targets

More...OpenTargetsi		ENSG00000066427

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

More...Orphaneti		276238 Machado-Joseph disease type 1
276241 Machado-Joseph disease type 2
276244 Machado-Joseph disease type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134971833

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ATXN3

Domain mapping of disease mutations (DMDM)

More...DMDMi		290457685

<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_00000538311 – 361Ataxin-3Add BLAST361

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-linki1Peptide (Met-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki200Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)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 residuei219PhosphoserineBy similarity1
Modified residuei265PhosphoserineCombined sources1
Modified residuei272PhosphoserineBy similarity1
Modified residuei328PhosphoserineBy similarity1

<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

Monoubiquitinated N-terminally by UBE2W, possibly leading to activate the deubiquitinating enzyme activity (PubMed:23696636).1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

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

More...PaxDbi		P54252

PeptideAtlas

More...PeptideAtlasi		P54252

PRoteomics IDEntifications database

More...PRIDEi		P54252

ProteomicsDB human proteome resource

More...ProteomicsDBi		56655
56656 [P54252-2]
56657 [P54252-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P54252

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

More...PhosphoSitePlusi		P54252

<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

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000066427 Expressed in 224 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P54252 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P54252 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB021976
HPA024123
HPA069338

<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

Interacts with STUB1/CHIP (when monoubiquitinated) (By similarity). Interacts with DNA repair proteins RAD23A and RAD23B (PubMed:16020535). Interacts with BECN1 (via its poly-Gln domain) (PubMed:28445460).By similarity2 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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110433, 159 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P54252

Protein interaction database and analysis system

More...IntActi		P54252, 39 interactors

Molecular INTeraction database

More...MINTi		P54252

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000376965

<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

1361
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Database of protein disorder

More...DisProti		DP00576

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P54252

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

More...SMRi		P54252

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		P54252

<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>Domaini1 – 180JosephinPROSITE-ProRule annotationAdd BLAST180
Domaini224 – 243UIM 1PROSITE-ProRule annotationAdd BLAST20
Domaini244 – 263UIM 2PROSITE-ProRule annotationAdd BLAST20
Domaini331 – 349UIM 3PROSITE-ProRule annotationAdd BLAST19

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 biasi292 – 305Poly-GlnSequence analysisAdd BLAST14

<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 UIM domains bind ubiquitin and interact with various E3 ubiquitin-protein ligase, such as STUB1/CHIP. They are essential to limit the length of ubiquitin chains (By similarity).By similarity
The poly-Gln domain is involved in the interaction with BECN1 and subsequent starvation-induced autophagy (PubMed:28445460).1 Publication

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2935 Eukaryota
ENOG4111G4B LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000001830

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG025648

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P54252

KEGG Orthology (KO)

More...KOi		K11863

Database for complete collections of gene phylogenies

More...PhylomeDBi		P54252

TreeFam database of animal gene trees

More...TreeFami		TF314228

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR033865 Ataxin-3
IPR006155 Josephin
IPR003903 UIM_dom

The PANTHER Classification System

More...PANTHERi		PTHR14159 PTHR14159, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02099 Josephin, 1 hit
PF02809 UIM, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01246 Josephin, 1 hit
SM00726 UIM, 3 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50957 JOSEPHIN, 1 hit
PS50330 UIM, 2 hits

<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>Sequences (5+)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 5 <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> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 27 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: P54252-2) [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
MESIFHEKQE GSLCAQHCLN NLLQGEYFSP VELSSIAHQL DEEERMRMAE 
        60         70         80         90        100
GGVTSEDYRT FLQQPSGNMD DSGFFSIQVI SNALKVWGLE LILFNSPEYQ 
       110        120        130        140        150
RLRIDPINER SFICNYKEHW FTVRKLGKQW FNLNSLLTGP ELISDTYLAL 
       160        170        180        190        200
FLAQLQQEGY SIFVVKGDLP DCEADQLLQM IRVQQMHRPK LIGEELAQLK 
       210        220        230        240        250
EQRVHKTDLE RVLEANDGSG MLDEDEEDLQ RALALSRQEI DMEDEEADLR 
       260        270        280        290        300
RAIQLSMQGS SRNISQDMTQ TSGTNLTSEE LRKRREAYFE KQQQKQQQQQ 
       310        320        330        340        350
QQQQQGDLSG QSSHPCERPA TSSGALGSDL GDAMSEEDML QAAVTMSLET 
       360 
VRNDLKTEGK K
Length:361
Mass (Da):41,250
Last modified:December 20, 2017 - v5
<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:i90C3EF73BB26CAFD
GO
Isoform 1 (identifier: P54252-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     332-361: DAMSEEDMLQAAVTMSLETVRNDLKTEGKK → KACSPFIMFATFTLYLTYELHVIFALHYSSFPL

Show »
Length:364
Mass (Da):41,781
Checksum:i4B2477EB67C30EFF
GO
Isoform 3 (identifier: P54252-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     10-64: Missing.

Show »
Length:306
Mass (Da):35,006
Checksum:iD2103044A948A525
GO
Isoform 4 (identifier: P54252-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-77: Missing.

Note: Gene prediction based on EST data.
Show »
Length:346
Mass (Da):39,638
Checksum:iD4DE7B21BDE6C4F1
GO
Isoform 5 (identifier: P54252-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-179: Missing.

Note: Gene prediction based on EST data.
Show »
Length:182
Mass (Da):20,633
Checksum:iF6BDA4CEE7251228
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 are 27 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JQV6C9JQV6_HUMAN
Ataxin-3
ATXN3
291Annotation score:

Annotation score:2 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>
A0A0A0MS38A0A0A0MS38_HUMAN
Ataxin-3
ATXN3
310Annotation score:

Annotation score:2 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>
D3VVH9D3VVH9_HUMAN
Ataxin 3 variant m
ATXN3
301Annotation score:

Annotation score:2 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>
G3V3R7G3V3R7_HUMAN
Ataxin-3
ATXN3
329Annotation score:

Annotation score:2 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>
F5H211F5H211_HUMAN
Ataxin-3
ATXN3
370Annotation score:

Annotation score:2 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>
G3V2G1G3V2G1_HUMAN
Ataxin-3
ATXN3
223Annotation score:

Annotation score:2 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>
G3V4U9G3V4U9_HUMAN
Ataxin-3
ATXN3
278Annotation score:

Annotation score:2 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>
G3V328G3V328_HUMAN
Ataxin-3
ATXN3
260Annotation score:

Annotation score:2 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>
A0A087X1A8A0A087X1A8_HUMAN
Ataxin-3
ATXN3
324Annotation score:

Annotation score:2 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>
A0A087WXY4A0A087WXY4_HUMAN
Ataxin-3
ATXN3
288Annotation score:

Annotation score:2 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>
There are more potential isoformsShow all

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 conflicti252A → T in AAB63352 (PubMed:9274833).Curated1
Sequence conflicti252A → T in AAB63353 (PubMed:9274833).Curated1
Sequence conflicti252A → T in AAB63354 (PubMed:9274833).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 ATXN3 is highly polymorphic (14 to 41 repeats) in the normal population and is expanded to about 55-82 repeats in spinocerebellar ataxia 3 (SCA3) patients (PubMed:7874163, PubMed:9274833).2 Publications
The MJD1a allele carries a single nucleotide substitution in codon 350 generating a stop codon instead of a Thr (PubMed:11450850). In the Japanese population, the MJD1a allele seems to be significantly associated with Gln expansion (PubMed:7874163, PubMed:9274833).3 Publications

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_013688212V → M3 PublicationsCorresponds to variant dbSNP:rs1048755EnsemblClinVar.1
Natural variantiVAR_013689306G → QQQQQQQQQQQQR3 Publications1
Natural variantiVAR_013690350 – 361Missing in allele MJD1a. 3 PublicationsAdd BLAST12

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0470851 – 179Missing in isoform 5. CuratedAdd BLAST179
Alternative sequenceiVSP_00278310 – 64Missing in isoform 3. CuratedAdd BLAST55
Alternative sequenceiVSP_04708663 – 77Missing in isoform 4. CuratedAdd BLAST15
Alternative sequenceiVSP_002784332 – 361DAMSE…TEGKK → KACSPFIMFATFTLYLTYEL HVIFALHYSSFPL in isoform 1. 2 PublicationsAdd BLAST30

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
S75313 mRNA Translation: AAB33571.1
U64820 mRNA Translation: AAB63352.1
U64821 mRNA Translation: AAB63353.1
U64822 mRNA Translation: AAB63354.1
AB050194 mRNA Translation: BAB18798.1
AB038653 Genomic DNA Translation: BAB55645.1
AB038653 Genomic DNA Translation: BAB55646.1
EU009923 Genomic DNA Translation: ABS29269.1
AL049872 Genomic DNA No translation available.
AL121773 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81472.1
BC033711 mRNA Translation: AAH33711.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32143.1 [P54252-3]
CCDS45154.1 [P54252-4]
CCDS53908.1 [P54252-5]
CCDS9900.1 [P54252-2]

Protein sequence database of the Protein Information Resource

More...PIRi		S50830

NCBI Reference Sequences

More...RefSeqi		NP_001121168.1, NM_001127696.1 [P54252-4]
NP_001158252.1, NM_001164780.1 [P54252-5]
NP_004984.2, NM_004993.5 [P54252-2]
NP_109376.1, NM_030660.4 [P54252-3]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.532632

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000340660; ENSP00000339110; ENSG00000066427 [P54252-3]
ENST00000502250; ENSP00000425322; ENSG00000066427 [P54252-5]
ENST00000503767; ENSP00000426697; ENSG00000066427 [P54252-4]
ENST00000532032; ENSP00000437157; ENSG00000066427 [P54252-1]
ENST00000558190; ENSP00000478320; ENSG00000066427 [P54252-2]
ENST00000644486; ENSP00000496695; ENSG00000066427 [P54252-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4287

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4287

UCSC genome browser

More...UCSCi		uc001yac.5 human [P54252-2]

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

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S75313 mRNA Translation: AAB33571.1
U64820 mRNA Translation: AAB63352.1
U64821 mRNA Translation: AAB63353.1
U64822 mRNA Translation: AAB63354.1
AB050194 mRNA Translation: BAB18798.1
AB038653 Genomic DNA Translation: BAB55645.1
AB038653 Genomic DNA Translation: BAB55646.1
EU009923 Genomic DNA Translation: ABS29269.1
AL049872 Genomic DNA No translation available.
AL121773 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW81472.1
BC033711 mRNA Translation: AAH33711.1
CCDSiCCDS32143.1 [P54252-3]
CCDS45154.1 [P54252-4]
CCDS53908.1 [P54252-5]
CCDS9900.1 [P54252-2]
PIRiS50830
RefSeqiNP_001121168.1, NM_001127696.1 [P54252-4]
NP_001158252.1, NM_001164780.1 [P54252-5]
NP_004984.2, NM_004993.5 [P54252-2]
NP_109376.1, NM_030660.4 [P54252-3]
UniGeneiHs.532632

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
1YZBNMR-A1-182[»]
2AGANMR-A1-185[»]
2DOSNMR-A1-171[»]
2JRINMR-A1-182[»]
2KLZNMR-A222-263[»]
4WTHX-ray2.25A/B278-324[»]
4YS9X-ray2.00B278-324[»]
DisProtiDP00576
ProteinModelPortaliP54252
SMRiP54252
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110433, 159 interactors
ELMiP54252
IntActiP54252, 39 interactors
MINTiP54252
STRINGi9606.ENSP00000376965

Protein family/group databases

MEROPSiC86.001

PTM databases

iPTMnetiP54252
PhosphoSitePlusiP54252

Polymorphism and mutation databases

BioMutaiATXN3
DMDMi290457685

Proteomic databases

PaxDbiP54252
PeptideAtlasiP54252
PRIDEiP54252
ProteomicsDBi56655
56656 [P54252-2]
56657 [P54252-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		4287
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340660; ENSP00000339110; ENSG00000066427 [P54252-3]
ENST00000502250; ENSP00000425322; ENSG00000066427 [P54252-5]
ENST00000503767; ENSP00000426697; ENSG00000066427 [P54252-4]
ENST00000532032; ENSP00000437157; ENSG00000066427 [P54252-1]
ENST00000558190; ENSP00000478320; ENSG00000066427 [P54252-2]
ENST00000644486; ENSP00000496695; ENSG00000066427 [P54252-2]
GeneIDi4287
KEGGihsa:4287
UCSCiuc001yac.5 human [P54252-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4287
DisGeNETi4287
EuPathDBiHostDB:ENSG00000066427.21

GeneCards: human genes, protein and diseases

More...GeneCardsi		ATXN3
GeneReviewsiATXN3
HGNCiHGNC:7106 ATXN3
HPAiCAB021976
HPA024123
HPA069338
MalaCardsiATXN3
MIMi109150 phenotype
607047 gene
neXtProtiNX_P54252
OpenTargetsiENSG00000066427
Orphaneti276238 Machado-Joseph disease type 1
276241 Machado-Joseph disease type 2
276244 Machado-Joseph disease type 3
PharmGKBiPA134971833

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2935 Eukaryota
ENOG4111G4B LUCA
GeneTreeiENSGT00390000001830
HOVERGENiHBG025648
InParanoidiP54252
KOiK11863
PhylomeDBiP54252
TreeFamiTF314228

Enzyme and pathway databases

ReactomeiR-HSA-5689877 Josephin domain DUBs

Miscellaneous databases

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

More...ChiTaRSi		ATXN3 human
EvolutionaryTraceiP54252

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Ataxin_3

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

More...GenomeRNAii		4287

Protein Ontology

More...PROi		PR:P54252

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000066427 Expressed in 224 organ(s), highest expression level in corpus callosum
ExpressionAtlasiP54252 baseline and differential
GenevisibleiP54252 HS

Family and domain databases

InterProiView protein in InterPro
IPR033865 Ataxin-3
IPR006155 Josephin
IPR003903 UIM_dom
PANTHERiPTHR14159 PTHR14159, 1 hit
PfamiView protein in Pfam
PF02099 Josephin, 1 hit
PF02809 UIM, 3 hits
SMARTiView protein in SMART
SM01246 Josephin, 1 hit
SM00726 UIM, 3 hits
PROSITEiView protein in PROSITE
PS50957 JOSEPHIN, 1 hit
PS50330 UIM, 2 hits

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 nameiATX3_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: P54252
Secondary accession number(s): A7LFZ5
, D6RDL9, E9PB63, O15284, O15285, O15286, Q8N189, Q96TC3, Q96TC4, Q9H3N0
<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: December 20, 2017
Last modified: December 5, 2018
This is version 197 of the entry and version 5 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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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