Ataxin 1

ATXN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1OA8, 4APT, 4AQP, 4J2J, 4J2L, 2M41
Identifiers
Aliases	ATXN1, ATX1, D6S504E, SCA1, ataxin 1
External IDs	OMIM: 601556; MGI: 104783; HomoloGene: 281; GeneCards: ATXN1; OMA:ATXN1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p22.3 Start 16,299,112 bp[1] End 16,761,491 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 A5|13 21.98 cM Start 45,703,231 bp[2] End 46,118,484 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell Brodmann area 23 Skeletal muscle tissue of rectus abdominis germinal epithelium orbitofrontal cortex Brodmann area 46 epithelium of colon biceps brachii Skeletal muscle tissue of biceps brachii cartilage tissue Top expressed in dorsal striatum medial dorsal nucleus lateral geniculate nucleus medial geniculate nucleus olfactory tubercle lateral septal nucleus parotid gland nucleus accumbens temporal muscle triceps brachii muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function poly(G) binding protein self-association DNA binding RNA binding protein C-terminus binding protein binding identical protein binding poly(U) RNA binding Cellular component cytoplasm nuclear matrix nuclear inclusion body nuclear RNA export factor complex nucleus nucleoplasm nucleolus cytosol Biological process nuclear export RNA processing negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated transcription, DNA-templated brain development learning memory social behavior negative regulation of transcription by RNA polymerase II lung alveolus development nervous system development anatomical structure development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6310 20238 Ensembl ENSG00000124788 ENSMUSG00000046876 UniProt P54253 P54254 RefSeq (mRNA) NM_001128164 NM_000332 NM_001357857 NM_001199304 NM_001199305 NM_009124 RefSeq (protein) NP_000323 NP_001121636 NP_001344786 NP_001186233 NP_001186234 NP_033150 Location (UCSC) Chr 6: 16.3 – 16.76 Mb Chr 13: 45.7 – 46.12 Mb PubMed search [3] [4]
Wikidata
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Ataxin-1 is a DNA-binding protein which in humans is encoded by the ATXN1 gene.^[5][6]

Mutations in ataxin-1 cause spinocerebellar ataxia type 1, an inherited neurodegenerative disease characterized by a progressive loss of cerebellar neurons, particularly Purkinje neurons.