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UniProtKB - P54259 (ATN1_HUMAN)

Entry version 184 (22 Apr 2020)
Sequence version 3 (11 Jan 2011)
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Protein

Atrophin-1

Gene

ATN1

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

Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats.By similarity2 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8943724 Regulation of PTEN gene transcription

SIGNOR Signaling Network Open Resource

More...SIGNORi		P54259

<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%5Fand%5Ftaxonomy%5Fsection">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:
Atrophin-1
Alternative name(s):
Dentatorubral-pallidoluysian atrophy protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ATN1
Synonyms:D12S755E, DRPLA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:3033 ATN1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607462 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P54259

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, 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

Dentatorubral-pallidoluysian atrophy (DRPLA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth.
Related information in OMIM
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurodevelopmental syndrome characterized by severe global developmental delay, impaired intellectual development, poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital malformations. Most patients also have seizures and structural brain abnormalities.
Related information in OMIM
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_0830581054H → N in CHEDDA. 1 Publication1
Natural variantiVAR_0830591058H → Y in CHEDDA. 1 Publication1
Natural variantiVAR_0830601059 – 1060SH → DL in CHEDDA; unknown pathological significance. 1 Publication2
Natural variantiVAR_0830611059 – 1060SH → NL in CHEDDA; unknown pathological significance. 1 Publication2
Natural variantiVAR_0830621060H → Y in CHEDDA; the mutation resulted in a perturbation of the structural and functional integrity of the HX repeat; altered zinc-binding properties of the HX repeat. 1 Publication1
Natural variantiVAR_0830631062H → D in CHEDDA. 1 Publication1
Natural variantiVAR_0830641062H → R in CHEDDA. 1 Publication1
Natural variantiVAR_0830651063L → R in CHEDDA. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi109D → N: Prevents cleavage and suppresses apoptosis. 1 Publication1
Mutagenesisi739S → A: Abolishes phosphorylation. 1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		1822

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

More...GeneReviewsi		ATN1

MalaCards human disease database

More...MalaCardsi		ATN1
MIMi125370 phenotype
618494 phenotype

Open Targets

More...OpenTargetsi		ENSG00000111676

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

More...Orphaneti		101 Dentatorubral pallidoluysian atrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27487

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P54259 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ATN1

Domain mapping of disease mutations (DMDM)

More...DMDMi		317373480

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000647301 – 1190Atrophin-1Add BLAST1190

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei34PhosphoserineCombined sources1
Modified residuei77PhosphoserineCombined sources1
Modified residuei79PhosphoserineCombined sources1
Modified residuei101PhosphoserineCombined sources1
Modified residuei103PhosphoserineCombined sources1
Modified residuei107PhosphoserineCombined sources1
Modified residuei632PhosphoserineCombined sources1
Modified residuei641N6-acetyllysineCombined sources1
Modified residuei653PhosphothreonineCombined sources1
Modified residuei661PhosphoserineCombined sources1
Modified residuei669PhosphothreonineCombined sources1
Modified residuei739Phosphoserine; by MAPK81 Publication1
Modified residuei746PhosphoserineCombined sources1
Modified residuei748PhosphoserineCombined sources1
Modified residuei896PhosphoserineCombined sources1
Modified residuei1115Asymmetric dimethylarginineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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-linki1183Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Phosphorylated in vitro by MAPK8/JNK1 on Ser-739. Mutant ATN1 sequences with expanded poly-Gln (polyQ) traits are more slowly phosphorylated.1 Publication
Proteolytically cleaved, probably in the nucleus, to produce two C-terminal fragments of 140 kDa (F1) and 125 kDa (F2) each containing poly-Gln (polyQ) tracts. F2 is produced by cleavage by caspases and is exported into the cytoplasm. In vitro, cleavage increases with an increase in the number of polyQ tracts. C-terminal proteolytic products appear to be the cause of cell toxicity. In vitro cleavage at Asp-109.4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei109 – 110Cleavage; by CASP-32 Publications2

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P54259

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P54259

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P54259

MaxQB - The MaxQuant DataBase

More...MaxQBi		P54259

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

More...PaxDbi		P54259

PeptideAtlas

More...PeptideAtlasi		P54259

PRoteomics IDEntifications database

More...PRIDEi		P54259

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56663

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P54259

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

More...PhosphoSitePlusi		P54259

<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 in various tissues including heart, lung, kidney, ovary, testis, prostate, placenta, skeletal Low levels in the liver, thymus and leukocytes. In the adult brain, broadly expressed in amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus, and thalamus. High levels in fetal tissues, especially brain.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000111676 Expressed in left lobe of thyroid gland and 179 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P54259 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000111676 Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NR2E1; the interaction represses the transcriptional activity of NR2E1.

Interacts (via its N-terminus) with FAT1 (via a C-terminal domain) (By similarity).

Interacts with BAIAP2, WWP1, WWP2, WWP3 and RERE.

Interacts (via its N-terminus) with MTG8; the interaction enhances transcriptional repression of MTG8.

Interacts with PQBP1.

By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108156, 101 interactors

Database of interacting proteins

More...DIPi		DIP-29423N

Protein interaction database and analysis system

More...IntActi		P54259, 93 interactors

Molecular INTeraction database

More...MINTi		P54259

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000349076

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P54259 protein

<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

3D structure databases

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

More...SMRi		P54259

Database of comparative protein structure models

More...ModBasei		Search...

<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

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>Regioni517 – 567Involved in binding BAIAP2Add BLAST51
Regioni879 – 894Required for interaction with FAT11 PublicationAdd BLAST16
Regioni1049 – 1065HX repeat1 PublicationAdd BLAST17

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>Motifi16 – 32Nuclear localization signal1 PublicationAdd BLAST17
Motifi1033 – 1041Nuclear export signal9

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 biasi73 – 82Glu/Ser-rich10
Compositional biasi302 – 305Poly-Pro4
Compositional biasi376 – 382Poly-Ser7
Compositional biasi386 – 397Poly-SerAdd BLAST12
Compositional biasi442 – 447Poly-Pro6
Compositional biasi479 – 483Poly-His5
Compositional biasi484 – 502Poly-GlnAdd BLAST19
Compositional biasi509 – 512Poly-Pro4
Compositional biasi569 – 579Poly-SerAdd BLAST11
Compositional biasi709 – 712Poly-Pro4
Compositional biasi807 – 820Ala/Arg-richAdd BLAST14
Compositional biasi821 – 832Arg/Glu-rich (mixed charge)Add BLAST12
Compositional biasi930 – 939Arg/Glu-rich (mixed charge)10

<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 HX repeat motif is a specific pH-dependent interaction motif for ions and/or proteins or other biomelecules. This motif could be involved in the control of embryonic development.1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2133 Eukaryota
ENOG410ZIND LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153615

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005292_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P54259

KEGG Orthology (KO)

More...KOi		K05626

Identification of Orthologs from Complete Genome Data

More...OMAi		YPHSLES

Database of Orthologous Groups

More...OrthoDBi		215918at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P54259

TreeFam database of animal gene trees

More...TreeFami		TF328554

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017993 Atrophin-1
IPR002951 Atrophin-like

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03154 Atrophin-1, 2 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01222 ATROPHIN

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

P54259-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKTRQNKDSM SMRSGRKKEA PGPREELRSR GRASPGGVST SSSDGKAEKS 
        60         70         80         90        100
RQTAKKARVE EASTPKVNKQ GRSEEISESE SEETNAPKKT KTEQELPRPQ 
       110        120        130        140        150
SPSDLDSLDG RSLNDDGSSD PRDIDQDNRS TSPSIYSPGS VENDSDSSSG 
       160        170        180        190        200
LSQGPARPYH PPPLFPPSPQ PPDSTPRQPE ASFEPHPSVT PTGYHAPMEP 
       210        220        230        240        250
PTSRMFQAPP GAPPPHPQLY PGGTGGVLSG PPMGPKGGGA ASSVGGPNGG 
       260        270        280        290        300
KQHPPPTTPI SVSSSGASGA PPTKPPTTPV GGGNLPSAPP PANFPHVTPN 
       310        320        330        340        350
LPPPPALRPL NNASASPPGL GAQPLPGHLP SPHAMGQGMG GLPPGPEKGP 
       360        370        380        390        400
TLAPSPHSLP PASSSAPAPP MRFPYSSSSS SSAAASSSSS SSSSSASPFP 
       410        420        430        440        450
ASQALPSYPH SFPPPTSLSV SNQPPKYTQP SLPSQAVWSQ GPPPPPPYGR 
       460        470        480        490        500
LLANSNAHPG PFPPSTGAQS TAHPPVSTHH HHHQQQQQQQ QQQQQQQQQQ 
       510        520        530        540        550
QQHHGNSGPP PPGAFPHPLE GGSSHHAHPY AMSPSLGSLR PYPPGPAHLP 
       560        570        580        590        600
PPHSQVSYSQ AGPNGPPVSS SSNSSSSTSQ GSYPCSHPSP SQGPQGAPYP 
       610        620        630        640        650
FPPVPTVTTS SATLSTVIAT VASSPAGYKT ASPPGPPPYG KRAPSPGAYK 
       660        670        680        690        700
TATPPGYKPG SPPSFRTGTP PGYRGTSPPA GPGTFKPGSP TVGPGPLPPA 
       710        720        730        740        750
GPSGLPSLPP PPAAPASGPP LSATQIKQEP AEEYETPESP VPPARSPSPP 
       760        770        780        790        800
PKVVDVPSHA SQSARFNKHL DRGFNSCARS DLYFVPLEGS KLAKKRADLV 
       810        820        830        840        850
EKVRREAEQR AREEKERERE REREKERERE KERELERSVK LAQEGRAPVE 
       860        870        880        890        900
CPSLGPVPHR PPFEPGSAVA TVPPYLGPDT PALRTLSEYA RPHVMSPGNR 
       910        920        930        940        950
NHPFYVPLGA VDPGLLGYNV PALYSSDPAA REREREARER DLRDRLKPGF 
       960        970        980        990       1000
EVKPSELEPL HGVPGPGLDP FPRHGGLALQ PGPPGLHPFP FHPSLGPLER 
      1010       1020       1030       1040       1050
ERLALAAGPA LRPDMSYAER LAAERQHAER VAALGNDPLA RLQMLNVTPH 
      1060       1070       1080       1090       1100
HHQHSHIHSH LHLHQQDAIH AASASVHPLI DPLASGSHLT RIPYPAGTLP 
      1110       1120       1130       1140       1150
NPLLPHPLHE NEVLRHQLFA APYRDLPASL SAPMSAAHQL QAMHAQSAEL 
      1160       1170       1180       1190
QRLALEQQQW LHAHHPLHSV PLPAQEDYYS HLKKESDKPL
Length:1,190
Mass (Da):125,414
Last modified:January 11, 2011 - v3
<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:iB47603486C672637
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA07534 differs from that shown. Reason: Frameshift.Curated

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 conflicti94Missing in AAB50276 (PubMed:8965642).Curated1
Sequence conflicti333H → Y in BAA06626 (PubMed:7842016).Curated1
Sequence conflicti1033A → G in BAA06626 (PubMed:7842016).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%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

The poly-Gln region of ATN1 is highly polymorphic (7 to 23 repeats) in the normal population and is expanded to about 49-75 repeats in DRPLA and HRS patients. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030937339M → I1 PublicationCorresponds to variant dbSNP:rs1058045Ensembl.1
Natural variantiVAR_064038484 – 488Missing 3 Publications5
Natural variantiVAR_0830581054H → N in CHEDDA. 1 Publication1
Natural variantiVAR_0830591058H → Y in CHEDDA. 1 Publication1
Natural variantiVAR_0830601059 – 1060SH → DL in CHEDDA; unknown pathological significance. 1 Publication2
Natural variantiVAR_0830611059 – 1060SH → NL in CHEDDA; unknown pathological significance. 1 Publication2
Natural variantiVAR_0830621060H → Y in CHEDDA; the mutation resulted in a perturbation of the structural and functional integrity of the HX repeat; altered zinc-binding properties of the HX repeat. 1 Publication1
Natural variantiVAR_0830631062H → D in CHEDDA. 1 Publication1
Natural variantiVAR_0830641062H → R in CHEDDA. 1 Publication1
Natural variantiVAR_0830651063L → R in CHEDDA. 1 Publication1

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
D31840 mRNA Translation: BAA06626.1
D38529 mRNA Translation: BAA07534.1 Frameshift.
U23851 mRNA Translation: AAB50276.1
U47924 Genomic DNA Translation: AAB51321.1
D63808 Genomic DNA Translation: BAA23631.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31734.1

Protein sequence database of the Protein Information Resource

More...PIRi		G01763
S50832

NCBI Reference Sequences

More...RefSeqi		NP_001007027.1, NM_001007026.1
NP_001931.2, NM_001940.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000356654; ENSP00000349076; ENSG00000111676
ENST00000396684; ENSP00000379915; ENSG00000111676

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1822

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1822

UCSC genome browser

More...UCSCi		uc001qrw.2 human

Keywords - Coding sequence diversityi

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D31840 mRNA Translation: BAA06626.1
D38529 mRNA Translation: BAA07534.1 Frameshift.
U23851 mRNA Translation: AAB50276.1
U47924 Genomic DNA Translation: AAB51321.1
D63808 Genomic DNA Translation: BAA23631.1
CCDSiCCDS31734.1
PIRiG01763
S50832
RefSeqiNP_001007027.1, NM_001007026.1
NP_001931.2, NM_001940.3

3D structure databases

SMRiP54259
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108156, 101 interactors
DIPiDIP-29423N
IntActiP54259, 93 interactors
MINTiP54259
STRINGi9606.ENSP00000349076

PTM databases

iPTMnetiP54259
PhosphoSitePlusiP54259

Polymorphism and mutation databases

BioMutaiATN1
DMDMi317373480

Proteomic databases

EPDiP54259
jPOSTiP54259
MassIVEiP54259
MaxQBiP54259
PaxDbiP54259
PeptideAtlasiP54259
PRIDEiP54259
ProteomicsDBi56663

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22787 137 antibodies

The DNASU plasmid repository

More...DNASUi		1822

Genome annotation databases

EnsembliENST00000356654; ENSP00000349076; ENSG00000111676
ENST00000396684; ENSP00000379915; ENSG00000111676
GeneIDi1822
KEGGihsa:1822
UCSCiuc001qrw.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1822
DisGeNETi1822

GeneCards: human genes, protein and diseases

More...GeneCardsi		ATN1
GeneReviewsiATN1
HGNCiHGNC:3033 ATN1
HPAiENSG00000111676 Low tissue specificity
MalaCardsiATN1
MIMi125370 phenotype
607462 gene
618494 phenotype
neXtProtiNX_P54259
OpenTargetsiENSG00000111676
Orphaneti101 Dentatorubral pallidoluysian atrophy
PharmGKBiPA27487

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2133 Eukaryota
ENOG410ZIND LUCA
GeneTreeiENSGT00940000153615
HOGENOMiCLU_005292_0_0_1
InParanoidiP54259
KOiK05626
OMAiYPHSLES
OrthoDBi215918at2759
PhylomeDBiP54259
TreeFamiTF328554

Enzyme and pathway databases

ReactomeiR-HSA-8943724 Regulation of PTEN gene transcription
SIGNORiP54259

Miscellaneous databases

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

More...ChiTaRSi		ATN1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ATN1

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

More...GenomeRNAii		1822
PharosiP54259 Tbio

Protein Ontology

More...PROi		PR:P54259
RNActiP54259 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000111676 Expressed in left lobe of thyroid gland and 179 other tissues
GenevisibleiP54259 HS

Family and domain databases

InterProiView protein in InterPro
IPR017993 Atrophin-1
IPR002951 Atrophin-like
PfamiView protein in Pfam
PF03154 Atrophin-1, 2 hits
PRINTSiPR01222 ATROPHIN

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiATN1_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: P54259
Secondary accession number(s): Q99495, Q99621, Q9UEK7
<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%5Fand%5Fisoforms">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: January 11, 2011
Last modified: April 22, 2020
This is version 184 of the entry and version 3 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

Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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