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Tbio
ATXN1
Ataxin-1

Protein Summary
Description
Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity). The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000244769
  • ENSP00000244769
  • ENSG00000124788
  • ENST00000436367
  • ENSP00000416360

Symbol
  • ATX1
  • SCA1
  • ATX1
  • SCA1
  • D6S504E
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
trait
1
transcription factor binding site profile
0.96
PubMedID
0.89
gene perturbation
0.88
biological process
0.87


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 291.25   (req: < 5)
Gene RIFs: 75   (req: <= 3)
Antibodies: 765   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 291.25   (req: >= 5)
Gene RIFs: 75   (req: > 3)
Antibodies: 765   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (95)
CIC
Tbio
Family:  TF
Novelty:  0.01006338
p_int:  0.999999991
p_ni:  8e-9
p_wrong:  1e-9
Score:  0.973
Data Source:  BioPlex,STRINGDB
CLASRP
Tbio
Novelty:  0.00582947
p_int:  0.999984286
p_ni:  7.4e-8
p_wrong:  0.00001564
Score:  0.214
Data Source:  BioPlex,STRINGDB
UBQLN4
Tbio
Novelty:  0.0428679
Score:  0.944
Data Source:  STRINGDB
RBM17
Tbio
Novelty:  0.04840999
Score:  0.931
Data Source:  STRINGDB
COIL
Tbio
Novelty:  0.00616248
Score:  0.928
Data Source:  STRINGDB
HTT
Tchem
Novelty:  0.00034051
Score:  0.864
Data Source:  STRINGDB
ATXN3
Tbio
Novelty:  0.00201109
Score:  0.859
Data Source:  STRINGDB
ANP32A
Tbio
Novelty:  0.00567095
Score:  0.819
Data Source:  STRINGDB
ATXN7
Tbio
Novelty:  0.00323014
Score:  0.798
Data Source:  STRINGDB
ATXN2
Tbio
Novelty:  0.00373116
Score:  0.788
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (22)
Find Similar Targets
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
IntAct
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Disease Associations ()
No disease associations found
GWAS Traits (38)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean corpuscular hemoglobin concentration
4
4
4
98.4
reticulocyte measurement
3
5
9
96.7
reticulocyte count
6
5
16
95.6
neutrophil count
5
3
5
93.9
hemoglobin measurement
3
3
3
92.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean corpuscular hemoglobin concentration
4
98.4
reticulocyte measurement
9
96.7
reticulocyte count
16
95.6
neutrophil count
5
93.9
hemoglobin measurement
3
92.2
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
ataxin 1
VGNC:12589
747421
Macaque
ataxin 1
702975
Mouse
MGI:104783
20238
Rat
RGD:3624
25049
Dog
ataxin 1
VGNC:38298
488232
Species
Name
OMA
EggNOG
Inparanoid
Chimp
ataxin 1
Macaque
ataxin 1
Mouse
Rat
Dog
ataxin 1
Publication Statistics
PubMed Score 291.25
PubMed score by year
PubTator Score 473.47
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title