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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. ATXN1, Ataxin 1
Sequence ID:NM_000332
NM_001128164
RefSeqGene ID:NG_011571
Entrez Gene ID:6310
Ensembl ID:ENSG00000124788

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, pituitary gland, placenta, pooled tissue, prostate, retina, salivary gland, skin, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
SPINOCEREBELLAR ATAXIA 1 

Cytogenetic Location (from UniGene)

Cytogenetic Location:6p23Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:6: 16485365 - 16761690

 Exon Info From UCSC:
NM_000332
NM_001128164

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
40125676Full LengthBC117125ataxin 1
4073412IncompleteBC039236ataxin 1
4286287IncompleteBC014548ataxin 1
4290737IncompleteBC011026ataxin 1
4472404IncompleteBC047894ataxin 1
6496130IncompleteBC063120ataxin 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000323  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000332 NP_000323 P54253 AXH
NM_001128164 NP_001121636    

Related Sequences

 
mRNAGenPeptSwissProt
BC011026 AAH11026 Q96FF1
BC014548 AAH14548 Q96C81
BC117125 AAI17126 P54253
HQ258517 ADR83271  
X79204 CAA55793 P54253

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens ATXN1 NP_000323 R.norvegicus Atxn1 25049   NP_036858 90
M.musculus Atxn1 20238 Gene Info NP_033150 90
C.elegans K04F10.1 187002   NP_491837 35

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)