We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
ATXN1
HPA
RESOURCES
  • TISSUE
  • BRAIN
  • SINGLE CELL
  • SUBCELLULAR
  • CANCER
  • BLOOD
  • CELL LINE
  • STRUCTURE & INTERACTION
ABOUT
  • INTRODUCTION
  • HISTORY
  • ORGANIZATION
  • PUBLICATIONS
  • ANTIBODY SUBMISSION
  • ANTIBODY AVAILABILITY
  • ACKNOWLEDGMENTS
  • CONTACT
NEWS
  • NEWS ARTICLES
  • PRESS ROOM
LEARN
  • DICTIONARY
  • PROTEIN CLASSES
  • PROTEIN EVIDENCE
  • METHODS
  • EDUCATIONAL VIDEOS
DATA
  • DOWNLOADABLE DATA
  • PUBLICATION DATA
  • RELEASE HISTORY
HELP
  • ANTIBODY VALIDATION
  • ASSAYS & ANNOTATION
  • DISCLAIMER
  • HELP & FAQ
  • PRIVACY STATEMENT
  • LICENCE & CITATION
Fields »
Search result

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


  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

  • CANCER

  • BLOOD

  • CELL LINE

  • STRUCT & INT

  • ATXN1
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.

ATXN1
Synonyms ATX1, D6S504E, SCA1
Gene descriptioni

Full gene name according to HGNC.

Ataxin 1
Protein classi

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

Disease related genes
Human disease related genes
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.

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.

Neurons - Synaptic function (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.

Cell type enhanced (Excitatory neurons, Inhibitory neurons, Oligodendrocyte precursor cells, Oligodendrocytes)
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.

Non-specific - Unknown function (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 In addition localized to the Nucleoli, Cytosol
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 6
Cytoband p22.3
Chromosome location (bp) 16299112 - 16761491
Number of transcriptsi

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

3
Ensembl ENSG00000124788 (version 109)
Entrez gene 6310
HGNC HGNC:10548
UniProt P54253 (UniProt - Evidence at protein level)
neXtProt NX_P54253
GeneCards ATXN1
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.
ATXN1-201
ATXN1-202
ATXN1-211

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
Off
Population
Clinical
Alphamissense variants:
Off
Benign
Pathogenic
Autorotate:
Off
On
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)
ATXN1-201
P54253
Show all
Predicted intracellular proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
815 aa
86.9 kDa
No 0
ATXN1-202
P54253
Show all
Predicted intracellular proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
815 aa
86.9 kDa
No 0
ATXN1-211
A0A2R8YCF3
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
185 aa
20 kDa
No 0
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, Non-specific - Unknown function

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: 53
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ARID5A296200
ATXN2131332290
C1orf94870803
CCNK48930
CFL17143964
CIC553200
CLASRP45900
COIL163731617
CPSF75112770
CRK31547300
CRX8741400
DAZAP2101241702
DZIP37251700
ELP533400
ESRP1228200
GMEB2213301
GSPT1124251290
HIVEP1971650
HSPA1A1731300
HSPA8644344629101
IST1357100
KLF37284600
KLHL1211412410
NUDT219203420
OTX211200
RBFOX18101410
RBFOX28192100
RBPMS261063800
RHOXF27521100
SF19143630
SIX511200
SKP16354147853
STAM212321891
TBC1D56111423
TBL1XR1252503
TCAP6351503
TENT5A33800
TENT5B257203
TRAF25324012320
TRIM32113235015
U2AF22522130250
UBQLN4122026102
USP54741360
VCP5453347435
YWHAB184933342450
YWHAE23512438032412
YWHAH133393941446
YWHAQ8858310796
YWHAZ2201643373248
YY1AP134500
ZC3H102282083
ZHX144771
ZNF488110105
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 272 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ABTB136402
AHDC112416
AK207720
AKT1406019524
ALG202713
ANP32A251460
ANXA80150018
APP4431413310
ARID5A296200
ASB13310600
ATF38172520
ATG10110400
ATP5F1B91371115
ATP5F1D371503
ATP5PB131528053
ATP6V0D1126211810
ATP6V1B16810019
ATXN2131332290
BAG2171552769
BECN116495653
BHLHE40252800
BICRAL013201
BUB3463120
C1orf94870803
C20orf14104000
C2orf4943538
C6orf141080010
CAMK124523
CBL313613030
CBLC161002
CCNB1IP1112201
CCNK48930
CCT52629812345
CCT6A2510793756
CDC231969292310
CDC26144172110
CENPV014702
CFL17143964
CIC553200
CIRBP511929
CISH14900
CLASRP45900
COIL163731617
CPSF75112770
CRK31547300
CRLF3124202
CRX8741400
CRYBA2121100
CUL4A91213700
CUTC013020
DAZAP2101241702
DLX307000
DMPK13300
DNAJA3493400
DNAJB484201018
DZIP37251700
EDRF116740
EFEMP2483600
EIF1AY02100
EIF2S251521290
EIF3F1442461010
EIF4ENIF15221350
ELAVL1193133260
ELL2216802
ELP533400
EML3657311
ENKUR09200
ESRP1228200
EXTL3010033
FARSB13711
FDPS06771
FEZ2212310
FKBP215504
FNDC9076000
FOXN404000
FTL4146099
FYN20486900
GCA19211
GMEB2213301
GORASP23411247420
GSPT1124251290
H2BC9024800
HIVEP1971650
HOXC4222402
HPCAL1432909
HSFX108500
HSFX208100
HSFY1116700
HSFY2116200
HSPA1A1731300
HSPA8644344629101
IST1357100
ITGB1BP117600
KAT5171808730
KLF37284600
KLF5063100
KLHL1211412410
KLHL1702106
KLHL2063212162
KRTAP12-4041000
KRTAP13-3058000
KRTAP19-1036000
KRTAP8-1076000
KRTAP9-21123200
LCA5L014000
LDHAL6B017007
LGALS9C023005
LHX6118400
LNX1123343400
LNX215631800
LRSAM138500
METTL178113100
METTL27141100
MGARP11420115
MKNK136520
MOCS3030010
MPND015000
MRFAP16341329
MRFAP1L1746705
NARS101303
NEBL028300
NEK8412700
NFX1352740
NHSL2419621
NLK1111901
NME44441301
NME515202
NSDHL337204
NUDT219203420
NUP4381138012
OGDH121402
OTUB113435306
OTX211200
PACS118300
PCMTD208310
PDLIM5191106
PDZK1IP1072100
PEPD02000
PES16434110
PHPT101010
PIAS18386440
PIK3CA6102431
PIM202300
PIWIL115300
PLA2G10140100
PLEKHA5641660
PLEKHG7018000
POGZ75819120
POLR1H031000
POM121278010
PQBP1391180
PRDX4361830
PRKACA254266250
PRPF833241591814
PRR20C020000
PRR20D055000
PRRC2A132900
PRRC2B141500
PSMA13714378240
PSMA43715614110
PSMB43331542123
PSMC34524714321
PTGDS010504
RAD186124513
RAD23A9413715
RAD54B03710
RBBP44136142400
RBCK15213502
RBFOX18101410
RBFOX28192100
RBM171922243616
RBPJ9125400
RBPMS261063800
RCN10191290
REL121432555
RHEBL127200
RHOXF27521100
RMND5A131918223
RNF112018100
RNF13912201
RNF183030203
RNF2323392813
RNF315114800
RPL1044312341135
RPL15226932626
RPL18206923128
RPL19726110120109
RPL22121664520
RPS1953810844127
RPS5204893914
RYBP154440023
SAR1A166502
SDCBP62412600
SERPINH10272140
SF19143630
SF3A32111452210
SF3B33411805845
SIX511200
SKIC81830281722
SKP16354147853
SLC51A02000
SMARCD11710547160
SNAP292726411557
SNRNP403914713329
SNRPB78271072170
SNRPD25017759312
SNRPD3181449115
SORCS302000
SOX14013100
SOX303000
SPATA2L116200
SPCS31411320
SQSTM1314030520
SREBF1023200
ST6GALNAC602000
STAC203000
STAM212321891
STAMBP13232204
SUMO34141600
SUPT20H1532768
TBC1D56111423
TBL1XR1252503
TBR107100
TBX15010000
TBX22010000
TCAP6351503
TENT5A33800
TENT5B257203
TGFBR235424013
TLE591072508
TNFAIP16311402
TOLLIP16423069
TOX417890
TPM35252200
TRAF25324012320
TRIM2391422200
TRIM32113235015
TRIM38117301
TRIM9318700
TRIP69902229
TTC19237709
TWIST2310501
U2AF112262620
U2AF22522130250
UBAC1325905
UBE2E314253502
UBE2I314017205
UBE2V13231100
UBOX525400
UBQLN4122026102
USP3001600
USP4667800
USP54741360
VCP5453347435
VPS4B27402
VSNL1012001
VSTM2L12100
WDR8383014038
YWHAB184933342450
YWHAE23512438032412
YWHAH133393941446
YWHAQ8858310796
YWHAZ2201643373248
YY1AP134500
ZBTB43222300
ZC3H102282083
ZHX144771
ZMAT2244783
ZNF27609000
ZNF366122100
ZNF488110105
ZXDC219300
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 70
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ARID5A296200
ATXN1L0161200
ATXN2131332290
C1orf94870803
CCNK48930
CFL17143964
CIC553200
CLASRP45900
COIL163731617
CPSF75112770
CREBBP213619340
CRK31547300
CRX8741400
DAZAP2101241702
DUSP1812200
DZIP37251700
ELP533400
ESRP1228200
GAPDH92983121
GMEB2213301
GSPT1124251290
HIVEP1971650
HSPA1A1731300
HSPA8644344629101
IST1357100
KLF37284600
KLHL1211412410
LASP11221200
NUDT219203420
OTX211200
PML121415950
RBFOX18101410
RBFOX28192100
RBPMS261063800
RELA3557145130
RELB891938
RHOXF27521100
RNF410807004
SF19143630
SIX511200
SKP16354147853
SNCA231279300
STAM212321891
STUB12657186020
SYBU11400
TBC1D56111423
TBL1XR1252503
TCAP6351503
TENT5A33800
TENT5B257203
TRAF25324012320
TRIM32113235015
TSC113132752
U2AF22522130250
UBE2E1784406
UBQLN4122026102
USP54741360
USP73537205711
VCP5453347435
YWHAB184933342450
YWHAE23512438032412
YWHAG25226342722213
YWHAH133393941446
YWHAQ8858310796
YWHAZ2201643373248
YY1AP134500
ZBTB3211800
ZC3H102282083
ZHX144771
ZNF488110105
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 2
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
YWHAE23512438032412
YWHAZ2201643373248
ATXN1 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.

ATXN1 is not a metabolic protein

Contact

  • NEWS ARTICLES
  • PRESS ROOM

The Project

  • INTRODUCTION
  • ORGANIZATION
  • PUBLICATIONS

The Human Protein Atlas

  • DOWNLOADABLE DATA
  • LICENCE & CITATION
  • HELP & FAQ
The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


contact@proteinatlas.org