full name
ataxin 3

synonyms
AT3, ATX3, JOS, MJD, MJD1, SCA3, ATXN3, ENSG00000066427

HGNC
HGNC:7106

Entrez Gene
Gene:4287

ENSEMBL
ENSG00000066427

location
chr: 14
start: 92524896
stop: 92572965
strand: -

OMIM
OMIM:607047: ATXN3 (Autosomal dominant inheritance,Genetic anticipation)
OMIM:109150: Machado-Joseph disease

transcripts
NM_001164782.1
NR_031765.1
NR_028466.1
NR_028463.1
NM_001164779.1
NR_028470.1
NM_001164780.1
NM_001164781.1
NM_001164777.1
NR_028454.1
NR_028456.1
NR_028469.1
NM_030660.4
NM_001164774.1
NR_028465.1
NM_001127696.1
NM_001164776.1
NM_001127697.2
NR_028464.1
NR_028467.1
NR_028460.1
NR_028462.1
NR_028458.1
NR_028468.1
NR_028453.1
NR_028455.1
NR_028457.1
NM_001164778.1
NR_028461.1
NM_004993.5
NR_028459.1

pathways
Deubiquitination [NCBI:1427860] [REACTOME:R-HSA-5688426] [PUBMED:19243136] [PUBMED:20074029] [PUBMED:15571815] [PUBMED:20418328] [PUBMED:16325574] [PUBMED:12944365] [PUBMED:23845989] [PUBMED:22201797]
Josephin domain DUBs [NCBI:1427864] [REACTOME:R-HSA-5689877] [PUBMED:23845989]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Protein processing in endoplasmic reticulum [NCBI:167325] [KEGG:hsa04141] [PUBMED:20347046] [PUBMED:18023214] [PUBMED:20219571] [PUBMED:19491040] [PUBMED:20112977]