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Gene Information
Gene ID:6310
Symbol:ATXN1
Full Name:ataxin 1
Alias:ATX1|D6S504E|SCA1
Organism:Homo sapiens (Human)
Chromosome:6
Genetic Location:6p23
Physical Location:16407321-16869699 on NC_000006.10, complement
Gene Type:protein-coding
Orthologs:This gene has Rat: 25049 ortholog(s) in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:AL009031
Dataset Information
Name:12065639
Method:Microarray
Tissue:Frontal and motor cortices
Phenotype:Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:Mayfield et al. J Neurochem. (2002) Patterns of gene expression are altered in the frontal and motor cortices of human alcoholics. PubMed
Summary:We used cDNA microarrays to analyze expression of approximately 10 000 genes in the frontal and motor cortices of three groups of chronic alcoholic and matched control cases. Fluorescent intensity ratios of 1.4-fold or greater in either direction (representing the 99% confidence interval) were used to indicate differentially expressed genes.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000332.3NP_000323.2NC_000006.10 range: 16407321..16869699, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0016363nuclear matrixCellular ComponentIDA (17557114)
GO:0005634nucleusCellular ComponentIDA (7647801)
GO:0005654nucleoplasmCellular ComponentIDA (12757932)
GO:0005737cytoplasmCellular ComponentIDA (7647801)
GO:0042272nuclear RNA export factor complexCellular ComponentIDA (15615787)
GO:0042405nuclear inclusion bodyCellular ComponentIDA (15615787)
GO:0034046poly(rG) bindingMolecular FunctionIDA (11136710)
GO:0042802identical protein bindingMolecular FunctionIPI (16713569)
GO:0043621protein self-associationMolecular FunctionIDA (9097953)
GO:0016564transcription repressor activityMolecular FunctionIDA (15016912)
GO:0003723RNA bindingMolecular FunctionIEA
GO:0008266poly(U) bindingMolecular FunctionIDA (11136710)
GO:0008022protein C-terminus bindingMolecular FunctionIPI (12757932|15016912)
GO:0016481negative regulation of transcriptionBiological ProcessIDA (15016912)
GO:0008219cell deathBiological ProcessIEA
GO:0006396RNA processingBiological ProcessNAS (15615787)
GO:0051168nuclear exportBiological ProcessIDA (15615787)
Other Database Cross Links
NCBI Entrez Gene:6310
HGNC:10548
Ensembl:ENSG00000124788
MIM:601556
HPRD:03333
HuGE Navigator:6310
dbSNP:ATXN1
GeneCard:ATXN1
AceView:ATXN1