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Entry version 183 (08 May 2019)
Sequence version 1 (01 Jan 1998)
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Protein

Ataxin-7

Gene

ATXN7

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

Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton stabilization.1 Publication

<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 - Biological processi

<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

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Reactomei
R-HSA-3214847 HATs acetylate histones
R-HSA-5689880 Ub-specific processing proteases

SIGNOR Signaling Network Open Resource

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SIGNORi
O15265

<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-7
Alternative name(s):
Spinocerebellar ataxia type 7 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:ATXN7
Synonyms:SCA7
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 3

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:10560 ATXN7

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607640 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15265

<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

Cytoplasm, Cytoskeleton, 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 7 (SCA7)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 degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy.
Related information in OMIM

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>Mutagenesisi257K → R: Almost completely abolishes sumoylation. 1 Publication1
Mutagenesisi858K → R: No effect on sumoylation. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

More...
DisGeNETi
6314

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

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GeneReviewsi
ATXN7

MalaCards human disease database

More...
MalaCardsi
ATXN7
MIMi164500 phenotype

Open Targets

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OpenTargetsi
ENSG00000163635

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

More...
Orphaneti
94147 Spinocerebellar ataxia type 7

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34973

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ATXN7

<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_00000647591 – 892Ataxin-7Add BLAST892

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-linki257Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
Cross-linki257Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources

<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

Proteolytically cleaved. The cleavage may be involved in SCA7 degeneration: the isoform fragments may exert distinct toxic influences that could contribute to selective neurodegeneration.
Sumoylation decreases the aggregation propensity and cellular toxicity of forms with an expanded poly-Gln region but has no effect on subcellular location or interaction with components of the STAGA complex.1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O15265

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O15265

MaxQB - The MaxQuant DataBase

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MaxQBi
O15265

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

More...
PaxDbi
O15265

PeptideAtlas

More...
PeptideAtlasi
O15265

PRoteomics IDEntifications database

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PRIDEi
O15265

ProteomicsDB human proteome resource

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ProteomicsDBi
48553
48554 [O15265-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
O15265-2 [O15265-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O15265

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

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PhosphoSitePlusi
O15265

SwissPalm database of S-palmitoylation events

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SwissPalmi
O15265

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
O15265

<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

Isoform a and isoform b are expressed in CNS, but isoform a is expressed predominantly in the peripherical tissues. Isoform b is also highly expressed in the frontal lobe, skeletal muscle and spinal cord and is expressed at a lower level in the lung, lymphoblast and intestine.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000163635 Expressed in 234 organ(s), highest expression level in placenta

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O15265 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O15265 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA034989

<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

Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP, TAF9 and ATXN7. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22.

Interacts with SORBS1, PSMC1 and CRX.

Interacts with TRRAP, GCN5L2 and TAF10.

Interacts with alpha tubulin.

6 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112221, 88 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-900 SAGA complex
CPX-903 TFTC histone acetylation complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O15265

Protein interaction database and analysis system

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IntActi
O15265, 60 interactors

Molecular INTeraction database

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MINTi
O15265

STRING: functional protein association networks

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STRINGi
9606.ENSP00000439585

<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

1892
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
O15265

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O15265

<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>Domaini334 – 401SCA7PROSITE-ProRule annotationAdd BLAST68

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 biasi16 – 20Poly-Ala5
Compositional biasi23 – 28Poly-Ala6
Compositional biasi30 – 49Gln-richAdd BLAST20
Compositional biasi30 – 39Poly-Gln10
Compositional biasi40 – 65Pro-richAdd BLAST26
Compositional biasi40 – 45Poly-Pro6
Compositional biasi51 – 55Poly-Pro5
Compositional biasi171 – 219Ser-richAdd BLAST49
Compositional biasi171 – 174Poly-Ser4
Compositional biasi213 – 219Poly-Ser7
Compositional biasi402 – 486Pro-richAdd BLAST85
Compositional biasi640 – 851Ser-richAdd BLAST212
Compositional biasi647 – 654Poly-Ser8
Compositional biasi717 – 730Poly-SerAdd BLAST14
Compositional biasi840 – 845Poly-Ser6

<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 ataxin-7 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4140 Eukaryota
ENOG4111ZIZ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157279

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000252910

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O15265

KEGG Orthology (KO)

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KOi
K11318

Identification of Orthologs from Complete Genome Data

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OMAi
RKPCTRS

Database of Orthologous Groups

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OrthoDBi
693000at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O15265

TreeFam database of animal gene trees

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TreeFami
TF331337

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR030706 ATXN7
IPR013243 SCA7_dom

The PANTHER Classification System

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PANTHERi
PTHR15117:SF2 PTHR15117:SF2, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF08313 SCA7, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51505 SCA7, 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>. 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>Sequences (3+)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 3 <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 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform a (identifier: O15265-1) [UniParc]FASTAAdd to basket
Also known as: Ataxin-7a

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MSERAADDVR GEPRRAAAAA GGAAAAAARQ QQQQQQQQQP PPPQPQRQQH
60 70 80 90 100
PPPPPRRTRP EDGGPGAAST SAAAMATVGE RRPLPSPEVM LGQSWNLWVE
110 120 130 140 150
ASKLPGKDGT ELDESFKEFG KNREVMGLCR EDMPIFGFCP AHDDFYLVVC
160 170 180 190 200
NDCNQVVKPQ AFQSHYERRH SSSSKPPLAV PPTSVFSFFP SLSKSKGGSA
210 220 230 240 250
SGSNRSSSGG VLSASSSSSK LLKSPKEKLQ LRGNTRPMHP IQQSRVPHGR
260 270 280 290 300
IMTPSVKVEK IHPKMDGTLL KSAVGPTCPA TVSSLVKPGL NCPSIPKPTL
310 320 330 340 350
PSPGQILNGK GLPAPPTLEK KPEDNSNNRK FLNKRLSERE FDPDIHCGVI
360 370 380 390 400
DLDTKKPCTR SLTCKTHSLT QRRAVQGRRK RFDVLLAEHK NKTREKELIR
410 420 430 440 450
HPDSQQPPQP LRDPHPAPPR TSQEPHQNPH GVIPSESKPF VASKPKPHTP
460 470 480 490 500
SLPRPPGCPA QQGGSAPIDP PPVHESPHPP LPATEPASRL SSEEGEGDDK
510 520 530 540 550
EESVEKLDCH YSGHHPQPAS FCTFGSRQIG RGYYVFDSRW NRLRCALNLM
560 570 580 590 600
VEKHLNAQLW KKIPPVPSTT SPISTRIPHR TNSVPTSQCG VSYLAAATVS
610 620 630 640 650
TSPVLLSSTC ISPNSKSVPA HGTTLNAQPA ASGAMDPVCS MQSRQVSSSS
660 670 680 690 700
SSPSTPSGLS SVPSSPMSRK PQKLKSSKSL RPKESSGNST NCQNASSSTS
710 720 730 740 750
GGSGKKRKNS SPLLVHSSSS SSSSSSSSHS MESFRKNCVA HSGPPYPSTV
760 770 780 790 800
TSSHSIGLNC VTNKANAVNV RHDQSGRGPP TGSPAESIKR MSVMVNSSDS
810 820 830 840 850
TLSLGPFIHQ SNELPVNSHG SFSHSHTPLD KLIGKKRKCS PSSSSINNSS
860 870 880 890
SKPTKVAKVP AVNNVHMKHT GTIPGAQGLM NSSLLHQPKA RP
Length:892
Mass (Da):95,451
Last modified:January 1, 1998 - v1
<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:i9AEA787D77103C5F
GO
Isoform b (identifier: O15265-2) [UniParc]FASTAAdd to basket
Also known as: Ataxin-7b, SCA7b

The sequence of this isoform differs from the canonical sequence as follows:
     888-892: PKARP → DISSPCLRTGISATSPQSPDLKSKGTSLTAENSTGRNNADTFEDKLHLHSALWTPRCL

Show »
Length:945
Mass (Da):101,112
Checksum:iB230F94D3D468D77
GO
Isoform 3 (identifier: O15265-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-166: MSERAADDVR...VKPQAFQSHY → MEGSKTPLQSSPSAQELKAPL

Note: No experimental confirmation available.
Show »
Length:747
Mass (Da):79,535
Checksum:iAE6215958E714C8E
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YAT6H0YAT6_HUMAN
Ataxin-7
ATXN7
115Annotation 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>
A0A2R8YDD6A0A2R8YDD6_HUMAN
Ataxin 7, isoform CRA_a
ATXN7 hCG_22237
892Annotation 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>
A0A1B0GX67A0A1B0GX67_HUMAN
Ataxin-7
ATXN7
25Annotation 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 conflicti105P → H in AAC19162 (PubMed:9425224).Curated1
Sequence conflicti129C → S in AAC19162 (PubMed:9425224).Curated1
Sequence conflicti888 – 892PKARP → VGNGL in AAC39765 (PubMed:9425224).Curated5
Sequence conflicti888 – 892PKARP → VGNGL in AAC19163 (PubMed:9425224).Curated5

<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 ATXN7 is highly polymorphic (4 to 18 repeats) in the normal population and is expanded to about 38-130 repeats in SCA7 patients. Intermediate alleles with 28 to 35 repeats are prone to further expansion.2 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_011823264K → R2 PublicationsCorresponds to variant dbSNP:rs1053338EnsemblClinVar.1
Natural variantiVAR_053779573I → V. Corresponds to variant dbSNP:rs3733124Ensembl.1
Natural variantiVAR_011824663P → S. Corresponds to variant dbSNP:rs1053340Ensembl.1
Natural variantiVAR_020143862V → M2 PublicationsCorresponds to variant dbSNP:rs3774729EnsemblClinVar.1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0444561 – 166MSERA…FQSHY → MEGSKTPLQSSPSAQELKAP L in isoform 3. 1 PublicationAdd BLAST166
Alternative sequenceiVSP_007695888 – 892PKARP → DISSPCLRTGISATSPQSPD LKSKGTSLTAENSTGRNNAD TFEDKLHLHSALWTPRCL in isoform b. Curated5

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AJ000517 mRNA Translation: CAA04154.1
AF032102 Genomic DNA Translation: AAC19162.1
AF032103 mRNA Translation: AAC19163.1
AF032105 mRNA Translation: AAC39765.1
AK304062 mRNA Translation: BAG64969.1
AC012557 Genomic DNA No translation available.
AC104162 Genomic DNA No translation available.
AA398030 mRNA No translation available.

The Consensus CDS (CCDS) project

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CCDSi
CCDS43102.1 [O15265-1]
CCDS46861.2 [O15265-3]
CCDS54603.1 [O15265-2]

Protein sequence database of the Protein Information Resource

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PIRi
T09193

NCBI Reference Sequences

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RefSeqi
NP_000324.1, NM_000333.3 [O15265-1]
NP_001121621.2, NM_001128149.2 [O15265-3]
NP_001170858.1, NM_001177387.1 [O15265-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000295900; ENSP00000295900; ENSG00000285258 [O15265-1]
ENST00000484332; ENSP00000428277; ENSG00000163635 [O15265-3]
ENST00000487717; ENSP00000420234; ENSG00000163635 [O15265-1]
ENST00000522345; ENSP00000428067; ENSG00000163635 [O15265-2]
ENST00000538065; ENSP00000439585; ENSG00000163635 [O15265-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6314

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6314

UCSC genome browser

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UCSCi
uc003dlw.5 human [O15265-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ000517 mRNA Translation: CAA04154.1
AF032102 Genomic DNA Translation: AAC19162.1
AF032103 mRNA Translation: AAC19163.1
AF032105 mRNA Translation: AAC39765.1
AK304062 mRNA Translation: BAG64969.1
AC012557 Genomic DNA No translation available.
AC104162 Genomic DNA No translation available.
AA398030 mRNA No translation available.
CCDSiCCDS43102.1 [O15265-1]
CCDS46861.2 [O15265-3]
CCDS54603.1 [O15265-2]
PIRiT09193
RefSeqiNP_000324.1, NM_000333.3 [O15265-1]
NP_001121621.2, NM_001128149.2 [O15265-3]
NP_001170858.1, NM_001177387.1 [O15265-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KKRNMR-A330-401[»]
SMRiO15265
ModBaseiSearch...

Protein-protein interaction databases

BioGridi112221, 88 interactors
ComplexPortaliCPX-900 SAGA complex
CPX-903 TFTC histone acetylation complex
CORUMiO15265
IntActiO15265, 60 interactors
MINTiO15265
STRINGi9606.ENSP00000439585

PTM databases

iPTMnetiO15265
PhosphoSitePlusiO15265
SwissPalmiO15265

Polymorphism and mutation databases

BioMutaiATXN7

Proteomic databases

EPDiO15265
jPOSTiO15265
MaxQBiO15265
PaxDbiO15265
PeptideAtlasiO15265
PRIDEiO15265
ProteomicsDBi48553
48554 [O15265-2]
TopDownProteomicsiO15265-2 [O15265-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6314
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295900; ENSP00000295900; ENSG00000285258 [O15265-1]
ENST00000484332; ENSP00000428277; ENSG00000163635 [O15265-3]
ENST00000487717; ENSP00000420234; ENSG00000163635 [O15265-1]
ENST00000522345; ENSP00000428067; ENSG00000163635 [O15265-2]
ENST00000538065; ENSP00000439585; ENSG00000163635 [O15265-2]
GeneIDi6314
KEGGihsa:6314
UCSCiuc003dlw.5 human [O15265-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
6314
DisGeNETi6314

GeneCards: human genes, protein and diseases

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GeneCardsi
ATXN7
GeneReviewsiATXN7
HGNCiHGNC:10560 ATXN7
HPAiHPA034989
MalaCardsiATXN7
MIMi164500 phenotype
607640 gene
neXtProtiNX_O15265
OpenTargetsiENSG00000163635
Orphaneti94147 Spinocerebellar ataxia type 7
PharmGKBiPA34973

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4140 Eukaryota
ENOG4111ZIZ LUCA
GeneTreeiENSGT00940000157279
HOGENOMiHOG000252910
InParanoidiO15265
KOiK11318
OMAiRKPCTRS
OrthoDBi693000at2759
PhylomeDBiO15265
TreeFamiTF331337

Enzyme and pathway databases

ReactomeiR-HSA-3214847 HATs acetylate histones
R-HSA-5689880 Ub-specific processing proteases
SIGNORiO15265

Miscellaneous databases

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

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ChiTaRSi
ATXN7 human
EvolutionaryTraceiO15265

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

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GenomeRNAii
6314
PMAP-CutDBiO15265

Protein Ontology

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PROi
PR:O15265

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163635 Expressed in 234 organ(s), highest expression level in placenta
ExpressionAtlasiO15265 baseline and differential
GenevisibleiO15265 HS

Family and domain databases

InterProiView protein in InterPro
IPR030706 ATXN7
IPR013243 SCA7_dom
PANTHERiPTHR15117:SF2 PTHR15117:SF2, 1 hit
PfamiView protein in Pfam
PF08313 SCA7, 1 hit
PROSITEiView protein in PROSITE
PS51505 SCA7, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiATX7_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: O15265
Secondary accession number(s): B4E207
, E9PHP9, O75328, O75329, Q9Y6P8
<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: July 15, 1999
Last sequence update: January 1, 1998
Last modified: May 8, 2019
This is version 183 of the entry and version 1 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 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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