MitoProteome Database

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MT000359

Record overview

MITO ID	MT000359
Gene ID	4287
Species	Homo sapiens (Human)
Gene Name	ataxin 3
Gene Symbol	ATXN3
Synonyms	AT3; JOS; MJD; ATX3; MJD1; SCA3;
Alternate names	ataxin-3; josephin; ataxin 3 variant h; ataxin 3 variant m; ataxin 3 variant ref; olivopontocerebellar ataxia 3; Machado-Joseph disease protein 1; spinocerebellar ataxia type 3 protein; Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3);
Chromosome	14
Map Location	14q21
EC Number	3.4.19.12
Summary	Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]
Orthologs	View orthologs and multiple alignments for ATXN3

Proteins

ataxin-3 isoform ad

Refseq ID:	NP_001121168
Protein GI:	189163493
UniProt ID:	P54252
mRNA ID:	NM_001127696
Length:	346
RefSeq Status:

ataxin-3 isoform ae
`MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQVISNALKVWGLELILFNSPEYQRLRIDPINERSFICN YKEHWFTVRKLGKQWFNLNSLLTGPELISDTYLALFLAQLQQEGYSIFVVKGDLPDCEADQLLQMIRVQQMHRPKLIGEELAQLKEQRVHKTDLERVLEA NDGSGMLDEDEEDLQRALALSRQEIDMEDEEADLRRAIQLSMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQQQQQQGDLSGQSSHP CERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGKK`

Refseq ID:	NP_001158254
Protein GI:	258614035
UniProt ID:
mRNA ID:	NM_001164782
Length:	33
RefSeq Status:

ataxin-3 isoform b
`MESIFHEKTAAKAATAAAAAAAGGPIRTEFTSM`

Refseq ID:	NP_001158246
Protein GI:	258614019
UniProt ID:
mRNA ID:	NM_001164774
Length:	88
RefSeq Status:

ataxin-3 isoform e
`MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQTAAKAATAAAAAAAGGPIRTEFTSM`

Refseq ID:	NP_001121169
Protein GI:	258613999
UniProt ID:
mRNA ID:	NM_001127697
Length:	310
RefSeq Status:

ataxin-3 isoform g
`MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQWFNLNSLLTGPELISDTYLALF LAQLQQEGYSIFVVKGDLPDCEADQLLQMIRVQQMHRPKLIGEELAQLKEQRVHKTDLERVLEANDGSGMLDEDEEDLQRALALSRQEIDMEDEEADLRR AIQLSMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQQQQQQGDLSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETV RNDLKTEGKK`

Refseq ID:	NP_001158248
Protein GI:	258614023
UniProt ID:
mRNA ID:	NM_001164776
Length:	103
RefSeq Status:

ataxin-3 isoform h
`MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQTAAKAATAAAAAAAGGPIRTEF TSM`

Refseq ID:	NP_109376
Protein GI:	13518013
UniProt ID:	P54252
mRNA ID:	NM_030660
Length:	306
RefSeq Status:

ataxin-3 isoform j
`MESIFHEKQPSGNMDDSGFFSIQVISNALKVWGLELILFNSPEYQRLRIDPINERSFICNYKEHWFTVRKLGKQWFNLNSLLTGPELISDTYLALFLAQL QQEGYSIFVVKGDLPDCEADQLLQMIRVQQMHRPKLIGEELAQLKEQRVHKTDLERVLEANDGSGMLDEDEEDLQRALALSRQEIDMEDEEADLRRAIQL SMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQQQQQQGDLSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDL KTEGKK`

Refseq ID:	NP_001158249
Protein GI:	258614027
UniProt ID:
mRNA ID:	NM_001164777
Length:	48
RefSeq Status:

ataxin-3 isoform o
`MESIFHEKQPSGNMDDSGFFSIQTAAKAATAAAAAAAGGPIRTEFTSM`

Refseq ID:	NP_001158250
Protein GI:	258614025
UniProt ID:
mRNA ID:	NM_001164778
Length:	154
RefSeq Status:

ataxin-3 isoform r
`MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQVISNALKVWGLELILFNSPEYQ RLRIDPINERSFICNYKEHWFTVRKLGKQTAAKAATAAAAAAAGGPIRTEFTSM`

Refseq ID:	NP_001158251
Protein GI:	258614029
UniProt ID:
mRNA ID:	NM_001164779
Length:	240
RefSeq Status:

ataxin-3 isoform u
`MESIFHEKWFNLNSLLTGPELISDTYLALFLAQLQQEGYSIFVVKGDLPDCEADQLLQMIRVQQMHRPKLIGEELAQLKEQRVHKTDLERVLEANDGSGM LDEDEEDLQRALALSRQEIDMEDEEADLRRAIQLSMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQQQQQQGDLSGQSSHPCERPAT SSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGKK`

Refseq ID:	NP_001158252
Protein GI:	258614031
UniProt ID:	P54252
mRNA ID:	NM_001164780
Length:	182
RefSeq Status:

ataxin-3 isoform y
`MIRVQQMHRPKLIGEELAQLKEQRVHKTDLERVLEANDGSGMLDEDEEDLQRALALSRQEIDMEDEEADLRRAIQLSMQGSSRNISQDMTQTSGTNLTSE ELRKRREAYFEKQQQKQQQQQQQQQQGDLSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGKK`

Refseq ID:	NP_001158253
Protein GI:	258614033
UniProt ID:	C9JQV6
mRNA ID:	NM_001164781
Length:	291
RefSeq Status:

ataxin-3 reference isoform
`MESIFHEKVISNALKVWGLELILFNSPEYQRLRIDPINERSFICNYKEHWFTVRKLGKQWFNLNSLLTGPELISDTYLALFLAQLQQEGYSIFVVKGDLP DCEADQLLQMIRVQQMHRPKLIGEELAQLKEQRVHKTDLERVLEANDGSGMLDEDEEDLQRALALSRQEIDMEDEEADLRRAIQLSMQGSSRNISQDMTQ TSGTNLTSEELRKRREAYFEKQQQKQQQQQQQQQQGDLSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGKK`

Refseq ID:	NP_004984
Protein GI:	13518019
UniProt ID:	P54252
mRNA ID:	NM_004993
Length:	361
RefSeq Status:

`MESIFHEKQEGSLCAQHCLNNLLQGEYFSPVELSSIAHQLDEEERMRMAEGGVTSEDYRTFLQQPSGNMDDSGFFSIQVISNALKVWGLELILFNSPEYQ RLRIDPINERSFICNYKEHWFTVRKLGKQWFNLNSLLTGPELISDTYLALFLAQLQQEGYSIFVVKGDLPDCEADQLLQMIRVQQMHRPKLIGEELAQLK EQRVHKTDLERVLEANDGSGMLDEDEEDLQRALALSRQEIDMEDEEADLRRAIQLSMQGSSRNISQDMTQTSGTNLTSEELRKRREAYFEKQQQKQQQQQ QQQQQGDLSGQSSHPCERPATSSGALGSDLGDAMSEEDMLQAAVTMSLETVRNDLKTEGKK`