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ATXN1
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Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Patient ID
Tissue
Category
Cluster
Reliability
Brain region
Category
Brain region
Category
Brain region
Category
Cluster
Reliability
Cell type
Category
Cluster
Tissue
Cell type
Enrichment
Cancer
Prognosis
Cancer
Category
Cell type
Category
Cell lineage
Category
Cluster
Annotation
Disease
Location
Searches
Location
Cell line
Type
Phase
Reliability
Cancer type
Category
Cluster
Interacting gene
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Protein structure
In atlas
Column


  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • TISSUE CELL

  • PATHOLOGY

  • DISEASE

  • IMMUNE

  • BLOOD

  • SUBCELL

  • CELL LINE

  • STRUCTURE

  • INTERACTION

  • ATXN1
INTERACTION
Protein interactions
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
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
Number of transcriptsi

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

3
HUMAN PROTEIN ATLAS INFORMATIONi

Summary of data presented in the Tissue section, with a representative image of protein expression (left) and an interactive chart showing the tissue-specific mRNA expression (right). The image and the chart are clickable and will redirect to more Tissue data.
This section contains information regarding the expression profiles of protein-coding genes in normal human tissue, both on the mRNA and protein level. The protein expression data is derived from antibody-based protein profiling using immunohistochemistry.

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
Tau specificity score (RNA)i

Tau specificity score is a numerical indicator of the specificity of the gene expression across cells or tissues. The value ranges from 0 and 1, where 0 indicates identical expression across all cells/tissue types, while 1 indicates expression in a single cell/tissue type.

0.30
Tissue distribution (RNA)i

The RNA distribution category is based on mRNA expression levels in the analyzed samples based on a combination of data from HPA and GTEX. The categories include: detected in all, detected in many, detected in some, detected in single and not detected.

Detected in all
Protein evidencei

Evidence score for genes based on UniProt protein existence (UniProt evidence); neXtProt protein existence (neXtProt evidence);and a Human Protein Atlas antibody- or RNA based score (HPA evidence). The avaliable scores are evidence at protein level, evidence at transcript level, no evidence, or not avaliable.

Read more
Evidence at protein level
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
INTERACTION SUMMARYi

In the Interaction summary a network plot of the gene's interaction partners is shown with nodes representing genes and edges representing the interaction type and the confidence (MI score) for the interaction. The type of interaction (direct interaction or physical association) is reflected by the colour of the edges, while the confidence of the interaction is reflected by the thickness of the edges. Scores larger than 0.6 (high confidence) have a thicker line than scores between 0.45 and 0.6 (medium confidence).

The highlight bar in the top of the plot can be used to colour 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.

Nodes can also be highlighted 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.

Highlight:
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Subcell location
Predicted location
Tissue specificity
Protein class

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
Patient ID
Tissue
Category
Cluster
Reliability
Brain region
Category
Brain region
Category
Brain region
Category
Cluster
Reliability
Cell type
Category
Cluster
Tissue
Cell type
Enrichment
Cancer
Prognosis
Cancer
Category
Cell type
Category
Cell lineage
Category
Cluster
Annotation
Disease
Location
Searches
Location
Cell line
Type
Phase
Reliability
Cancer type
Category
Cluster
Interacting gene
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Protein structure
In atlas
Column


Number of interactions: 271 View all protein interaction data in IntAct
Interaction Interaction type Confidence MI score # Interactions
C1orf94 Physical association High 0.86 69
TRAF2 Physical association High 0.86 237
YWHAE Direct interaction High 0.85 42
YWHAZ Direct interaction High 0.84 128
TENT5B Physical association High 0.83 57
ESRP1 Physical association High 0.81 28
RBFOX2 Physical association High 0.79 18
ZNF488 Physical association High 0.78 10
CRK Physical association High 0.77 54
ZC3H10 Physical association High 0.76 28
CIC Physical association High 0.76 4
YWHAH Physical association High 0.74 31
ARID5A Physical association High 0.74 94
TCAP Physical association High 0.74 34
TENT5A Physical association High 0.74 3
CAMK1 Physical association High 0.72 3
METTL27 Physical association High 0.72 41
KAT5 Physical association High 0.71 180
CFL1 Physical association High 0.7 12
ELP5 Physical association High 0.7 2
KLHL12 Physical association High 0.7 40
NUDT21 Physical association High 0.7 20
RBPMS Physical association High 0.7 105
TRIM32 Physical association High 0.7 30
TRIM38 Physical association High 0.7 17
ZHX1 Physical association High 0.7 4
SKP1 Physical association High 0.7 51
TBL1XR1 Physical association High 0.7 5
EFEMP2 Physical association High 0.7 83
U2AF2 Physical association High 0.67 18
BAG2 Physical association High 0.67 12
BUB3 Physical association High 0.67 6
ELAVL1 Physical association High 0.67 3
HSPA8 Physical association High 0.67 35
PRDX4 Physical association High 0.67 5
PSMA4 Physical association High 0.67 13
SPCS3 Physical association High 0.67 4
SQSTM1 Physical association High 0.67 36
TPM3 Physical association High 0.67 25
U2AF1 Physical association High 0.67 26
YWHAB Physical association High 0.67 78
YWHAQ Physical association High 0.67 54
AHDC1 Physical association High 0.67 2
ATP6V0D1 Physical association High 0.67 6
CIRBP Physical association High 0.67 11
COIL Physical association High 0.67 35
DMPK Physical association High 0.67 3
DNAJA3 Physical association High 0.67 9
DZIP3 Physical association High 0.67 24
EIF1AY Physical association High 0.67 2
EIF3F Physical association High 0.67 42
EIF4ENIF1 Physical association High 0.67 20
FDPS Physical association High 0.67 6
FYN Physical association High 0.67 46
GCA Physical association High 0.67 9
GMEB2 Physical association High 0.67 12
HPCAL1 Physical association High 0.67 31
HSFX1 Physical association High 0.67 8
HSFX2 Physical association High 0.67 8
LRSAM1 Physical association High 0.67 7
NARS1 Physical association High 0.67 1
NLK Physical association High 0.67 11
PEPD Physical association High 0.67 2
PHPT1 Physical association High 0.67 1
PIAS1 Physical association High 0.67 38
PIM2 Physical association High 0.67 2
PRRC2B Physical association High 0.67 2
PSMC3 Physical association High 0.67 20
PTGDS Physical association High 0.67 10
RCN1 Physical association High 0.67 19
RNF31 Physical association High 0.67 11
SLC51A Physical association High 0.67 2
SREBF1 Physical association High 0.67 2
ST6GALNAC6 Physical association High 0.67 2
STAC2 Physical association High 0.67 3
STAM2 Physical association High 0.67 31
SUPT20H Physical association High 0.67 2
TOLLIP Physical association High 0.67 41
TOX4 Physical association High 0.67 7
TRIP6 Physical association High 0.67 90
TTC19 Physical association High 0.67 33
UBE2E3 Physical association High 0.67 24
UBE2I Physical association High 0.67 40
VSNL1 Physical association High 0.67 12
VSTM2L Physical association High 0.67 2
ZNF276 Physical association High 0.67 9
ZXDC Physical association High 0.67 19
KLF3 Physical association High 0.66 28
KLF5 Physical association High 0.66 6
TBR1 Physical association High 0.66 7
RBPJ Physical association High 0.64 12
HIVEP1 Physical association High 0.63 5
CRYBA2 Physical association High 0.61 21
RHOXF2 Physical association High 0.61 52
ZBTB43 Physical association High 0.61 21
UBQLN4 Physical association Medium 0.59 20
RBM17 Physical association Medium 0.58 21
ABTB1 Physical association Medium 0.56 4
AK2 Physical association Medium 0.56 7
AKT1 Physical association Medium 0.56 58
ALG2 Physical association Medium 0.56 2
ANP32A Physical association Medium 0.56 3
ANXA8 Physical association Medium 0.56 14
APP Physical association Medium 0.56 312
ASB13 Physical association Medium 0.56 10
ATF3 Physical association Medium 0.56 17
ATG10 Physical association Medium 0.56 10
ATP5F1B Physical association Medium 0.56 9
ATP5F1D Physical association Medium 0.56 7
ATP5PB Physical association Medium 0.56 12
ATP6V1B1 Physical association Medium 0.56 8
BECN1 Physical association Medium 0.56 48
BHLHE40 Physical association Medium 0.56 52
BICRAL Physical association Medium 0.56 13
C20orf141 Physical association Medium 0.56 4
C2orf49 Physical association Medium 0.56 2
C6orf141 Physical association Medium 0.56 8
CBL Physical association Medium 0.56 34
CBLC Physical association Medium 0.56 6
CCNB1IP1 Physical association Medium 0.56 11
CCT5 Physical association Medium 0.56 28
CCT6A Physical association Medium 0.56 9
CDC23 Physical association Medium 0.56 69
CDC26 Physical association Medium 0.56 4
CENPV Physical association Medium 0.56 14
CISH Physical association Medium 0.56 4
CRLF3 Physical association Medium 0.56 24
CRX Physical association Medium 0.56 74
CUL4A Physical association Medium 0.56 12
CUTC Physical association Medium 0.56 12
DLX3 Physical association Medium 0.56 7
DNAJB4 Physical association Medium 0.56 4
EDRF1 Physical association Medium 0.56 6
EIF2S2 Physical association Medium 0.56 13
ELL2 Physical association Medium 0.56 16
EML3 Physical association Medium 0.56 5
ENKUR Physical association Medium 0.56 9
EXTL3 Physical association Medium 0.56 1
FARSB Physical association Medium 0.56 3
FEZ2 Physical association Medium 0.56 12
FKBP2 Physical association Medium 0.56 5
FNDC9 Physical association Medium 0.56 76
FOXN4 Physical association Medium 0.56 3
FTL Physical association Medium 0.56 13
GORASP2 Physical association Medium 0.56 111
H2BC9 Physical association Medium 0.56 2
HOXC4 Physical association Medium 0.56 22
HSFY1 Physical association Medium 0.56 16
HSFY2 Physical association Medium 0.56 16
HSPA1A Physical association Medium 0.56 7
ITGB1BP1 Physical association Medium 0.56 7
KLHL17 Physical association Medium 0.56 2
KLHL20 Physical association Medium 0.56 31
KRTAP12-4 Physical association Medium 0.56 41
KRTAP13-3 Physical association Medium 0.56 58
KRTAP19-1 Physical association Medium 0.56 36
KRTAP8-1 Physical association Medium 0.56 76
KRTAP9-2 Physical association Medium 0.56 123
LCA5L Physical association Medium 0.56 14
LDHAL6B Physical association Medium 0.56 17
LGALS9C Physical association Medium 0.56 23
LHX6 Physical association Medium 0.56 18
LNX1 Physical association Medium 0.56 333
LNX2 Physical association Medium 0.56 63
MGARP Physical association Medium 0.56 14
MKNK1 Physical association Medium 0.56 6
MOCS3 Physical association Medium 0.56 3
MPND Physical association Medium 0.56 15
MRFAP1 Physical association Medium 0.56 34
MRFAP1L1 Physical association Medium 0.56 46
NEBL Physical association Medium 0.56 28
NEK8 Physical association Medium 0.56 12
NFX1 Physical association Medium 0.56 5
NHSL2 Physical association Medium 0.56 19
NME4 Physical association Medium 0.56 43
NME5 Physical association Medium 0.56 5
NSDHL Physical association Medium 0.56 3
NUP43 Physical association Medium 0.56 11
OGDH Physical association Medium 0.56 2
OTUB1 Physical association Medium 0.56 43
PACS1 Physical association Medium 0.56 8
PCMTD2 Physical association Medium 0.56 8
PDLIM5 Physical association Medium 0.56 9
PDZK1IP1 Physical association Medium 0.56 71
PES1 Physical association Medium 0.56 4
PIK3CA Physical association Medium 0.56 10
PIWIL1 Physical association Medium 0.56 5
PLA2G10 Physical association Medium 0.56 40
PLEKHG7 Physical association Medium 0.56 18
POGZ Physical association Medium 0.56 58
POLR1H Physical association Medium 0.56 3
PQBP1 Physical association Medium 0.56 9
PRKACA Physical association Medium 0.56 41
PRPF8 Physical association Medium 0.56 19
PRR20C Physical association Medium 0.56 20
PRR20D Physical association Medium 0.56 55
PSMA1 Physical association Medium 0.56 135
PSMB4 Physical association Medium 0.56 31
RAD18 Physical association Medium 0.56 12
RAD23A Physical association Medium 0.56 41
RAD54B Physical association Medium 0.56 3
RBBP4 Physical association Medium 0.56 36
RBCK1 Physical association Medium 0.56 21
REL Physical association Medium 0.56 141
RHEBL1 Physical association Medium 0.56 7
RMND5A Physical association Medium 0.56 18
RNF112 Physical association Medium 0.56 18
RNF139 Physical association Medium 0.56 2
RNF183 Physical association Medium 0.56 30
RNF2 Physical association Medium 0.56 33
RPL10 Physical association Medium 0.56 3
RPL15 Physical association Medium 0.56 6
RPL18 Physical association Medium 0.56 5
RPL19 Physical association Medium 0.56 5
RPL22 Physical association Medium 0.56 16
RPS19 Physical association Medium 0.56 6
RPS5 Physical association Medium 0.56 4
RYBP Physical association Medium 0.56 44
SAR1A Physical association Medium 0.56 65
SDCBP Physical association Medium 0.56 240
SERPINH1 Physical association Medium 0.56 27
SF3A3 Physical association Medium 0.56 7
SF3B3 Physical association Medium 0.56 9
SKIC8 Physical association Medium 0.56 30
SMARCD1 Physical association Medium 0.56 104
SNAP29 Physical association Medium 0.56 25
SNRNP40 Physical association Medium 0.56 9
SNRPB Physical association Medium 0.56 15
SNRPD2 Physical association Medium 0.56 14
SNRPD3 Physical association Medium 0.56 9
SORCS3 Physical association Medium 0.56 2
SOX14 Physical association Medium 0.56 13
SOX3 Physical association Medium 0.56 3
SPATA2L Physical association Medium 0.56 16
STAMBP Physical association Medium 0.56 21
SUMO3 Physical association Medium 0.56 13
TBX15 Physical association Medium 0.56 10
TBX22 Physical association Medium 0.56 10
TGFBR2 Physical association Medium 0.56 54
TLE5 Physical association Medium 0.56 105
TNFAIP1 Physical association Medium 0.56 31
TRIM23 Physical association Medium 0.56 142
TRIM9 Physical association Medium 0.56 18
TWIST2 Physical association Medium 0.56 10
UBAC1 Physical association Medium 0.56 24
UBE2V1 Physical association Medium 0.56 23
UBOX5 Physical association Medium 0.56 4
USP30 Physical association Medium 0.56 1
USP46 Physical association Medium 0.56 5
VCP Physical association Medium 0.56 48
VPS4B Physical association Medium 0.56 6
WDR83 Physical association Medium 0.56 30
ZMAT2 Physical association Medium 0.56 44
ZNF366 Physical association Medium 0.56 22
OTX2 Physical association Medium 0.55 1
GSPT1 Physical association Medium 0.55 2
SF1 Physical association Medium 0.55 14
ATXN2 Physical association Medium 0.51 10
CCNK Physical association Medium 0.51 8
CPSF7 Physical association Medium 0.51 11
DAZAP2 Physical association Medium 0.51 124
IST1 Physical association Medium 0.51 4
PLEKHA5 Physical association Medium 0.51 4
PRRC2A Physical association Medium 0.51 3
RBFOX1 Physical association Medium 0.51 10
SIX5 Physical association Medium 0.51 1
TBC1D5 Physical association Medium 0.51 10
USP54 Physical association Medium 0.51 3
YY1AP1 Physical association Medium 0.51 4
METTL17 Physical association Medium 0.49 11
POM121 Physical association Medium 0.49 7
Show allShow less
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

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The Human Protein Atlas project is funded
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