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)
End	16,761,491 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	46,118,484 bp
RNA expression pattern
	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
	; ;
	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
	6310
	20238
	ENSG00000124788
	ENSMUSG00000046876
	P54253
	P54254
	NM_001128164; NM_000332; NM_001357857
	NM_001199304; NM_001199305; NM_009124
	NP_000323; NP_001121636; NP_001344786
	NP_001186233; NP_001186234; NP_033150
	Wikidata
View/Edit Human	View/Edit Mouse

Ataxin-1 is a DNA-binding protein which in humans is encoded by the ATXN1 gene.

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