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ATXN3
HPA
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Annotation
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Category
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Brain region
Category
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Brain region
Category
Tau score
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Reliability
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Interacting gene (ensg_id)
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  • SUMMARY

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  • STRUCT & INT

  • ATXN3
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

ATXN3
Synonyms ATX3, JOS, MJD, SCA3
Gene descriptioni

Full gene name according to HGNC.

Ataxin 3
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Plasma proteins
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Non-specific - Transcription (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Low cell type specificity
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Bone marrow - Cell proliferation (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Nucleoplasm, Nucleoli In addition localized to the Plasma membrane
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 14
Cytoband q32.12
Chromosome location (bp) 92044496 - 92106621
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

16
Ensembl ENSG00000066427 (version 109)
Entrez gene 4287
HGNC HGNC:7106
UniProt P54252 (UniProt - Evidence at protein level)
neXtProt NX_P54252
GeneCards ATXN3
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
ATXN3-201
ATXN3-203
ATXN3-204
ATXN3-206
ATXN3-207
ATXN3-209
ATXN3-213
ATXN3-214
ATXN3-215
ATXN3-219
ATXN3-227
ATXN3-228
ATXN3-231
ATXN3-235
ATXN3-246
ATXN3-251
»

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
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Population
Clinical
Alphamissense variants:
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Benign
Pathogenic
Autorotate:
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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
ATXN3-201
P54252
Show all
Enzymes
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
306 aa
35 kDa
No 0
ATXN3-203
A0A0A0MS38
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
310 aa
35.1 kDa
No 0
ATXN3-204
C9JQV6
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
291 aa
33.4 kDa
No 0
ATXN3-206
P54252
Show all
Enzymes
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
182 aa
20.6 kDa
No 0
ATXN3-207
P54252
Show all
Enzymes
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
346 aa
39.6 kDa
No 0
ATXN3-209
E9PJN5
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
205 aa
23.5 kDa
No 0
ATXN3-213
S4R399
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
202 aa
23.3 kDa
No 0
ATXN3-214
P54252
Show all
Enzymes
Predicted membrane proteins
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
364 aa
41.8 kDa
No 1
ATXN3-215
F5H211
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
370 aa
42.4 kDa
No 0
ATXN3-219
G3V4U9
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
278 aa
31.6 kDa
No 0
ATXN3-227
G3V3R7
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
329 aa
37.7 kDa
No 0
ATXN3-228
G3V3T6
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
126 aa
14.8 kDa
No 0
ATXN3-231
G3V328
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
260 aa
30 kDa
No 0
ATXN3-235
G3V2G1
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
223 aa
25.4 kDa
No 0
ATXN3-246
G3V2G2
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
150 aa
17.1 kDa
No 0
ATXN3-251
P54252
Show all
Enzymes
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
361 aa
41.2 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Bone marrow - Cell proliferation

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 3
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
PHAF127202
RAD23A9413715
VCP5453347435
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 74 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AAMDC06100
ABHD17C011100
AKR7A214108
ARFGAP3129420
ARHGAP1912340
BCHE06110
C16orf5406002
C7orf31015000
CASP35162921
CCT6A2510793756
CDKAL1031310
CLPP21921105
CRLF3124202
DCLRE1B18600
EDRF116740
EWSR112249360
FANCG53526016
FEZ2212310
FOXD4L60150025
GDAP1029100
GORASP23411247420
H2AP315400
H3C12552282014
H3C102523014
H3C112523014
H3C122523014
H3C25528014
H3C395215014
H3C40521014
H3C6175239014
H3C73524014
H3C82523014
HDAC1006400
IGFBP41103013
IMMT8115720
KLHL2063212162
LDHAL6B017007
LHX6118400
METTL7A17323
MICAL218151
MKRN341181102
MYLIP229900
NR0B2582502
NUP4381138012
OTUB23171001
PALS17191733
PARVA44425
PHAF127202
PIAS18386440
PIK3CA6102431
POC1A397010
PRKACA254266250
PSMD72624532016
RAD23A9413715
RNF315114800
SELE03000
SERPINH10272140
SLC52A301000
SOX14013100
SPATA2L116200
STK3627500
TBX22010000
TDP206700
TELO23616019
TEX1906000
TGFBR235424013
TLR1004000
UBQLN1292146350
USP13473312
VCP5453347435
VPS37A218633
WWP1575110
ZMAT2244783
ZNF366122100
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 63
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACLY103051
ACOT900710
AMFR131265015
BECN116495653
CANX126723538124
CAPN1381717
CAPN2281200
CASP73101701
CHEK1695171
CREBBP213619340
CSNK2B572911715437
CUL13231160111
CUL4A91213700
DDB13922169649
DNAJA111366199
DYNC1H1153758331
EP300273436841
FOXO4041000
GABARAP19414401
GSK3B272918380
HAP15271700
HDAC3121910370
HSP90AA15156349230
HSPA1A1731300
HSPA4L512562
HSPA8644344629101
HSPH18146220
HTT366675600
KAT2B111211551
KLF4291900
MAP1LC3A8157010
MAP1LC3C10352000
NCOR113189030
NDUFA4013100
NEDD811246602
PHAF127202
PJA1221310
PML121415950
PNKP5351521
PRKN1111140500
PSMC539331211925
RAD23A9413715
RAD23B7164602
RHEB1101705
SDHA452829
SDHB151811
SLC25A2200708
SLC25A3002300
SLC25A5113022
SLC25A631216059
SLC3A2523750
SQSTM1314030520
STUB12657186020
SUMO1266155130
TECR32217100
TP5312016068250
TUBA4A13535037
TUBB201883082
UBB23622516
UBC345845240
VCP5453347435
XRCC62122226152
YAP13132300100
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 1
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
GPALPP100210
ATXN3 has no defined protein interactions in BioPlex.
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

ATXN3 is not a metabolic protein

Contact

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The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


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