| Tag | Content |
|---|---|
| UniProt Accession | ATX3_HUMAN; P54252; |
| Entrez ID | 4287 |
| GenBank Protein ID | NM_001127696.1; NM_001164780.1; NM_004993.5; NM_030660.4; |
| GenBank Nucleotide ID | NP_001121168.1; NP_001158252.1; NP_004984.2; NP_109376.1; |
| Protein Name | Ataxin-3 (EC 3.4.19.12) (Machado-Joseph disease protein 1) (Spinocerebellar ataxia type 3 protein) |
| Gene Name | ATXN3; ATX3; MJD; MJD1; SCA3 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:16118278). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460). |
| Sequence (Fasta) | MESIFHEKQE GSLCAQHCLN NLLQGEYFSP VELSSIAHQL DEEERMRMAE GGVTSEDYRT 60 FLQQPSGNMD DSGFFSIQVI SNALKVWGLE LILFNSPEYQ RLRIDPINER SFICNYKEHW 120 FTVRKLGKQW FNLNSLLTGP ELISDTYLAL FLAQLQQEGY SIFVVKGDLP DCEADQLLQM 180 IRVQQMHRPK LIGEELAQLK EQRVHKTDLE RVLEANDGSG MLDEDEEDLQ RALALSRQEI 240 DMEDEEADLR RAIQLSMQGS SRNISQDMTQ TSGTNLTSEE LRKRREAYFE KQQQKQQQQQ 300 QQQQQGDLSG QSSHPCERPA TSSGALGSDL GDAMSEEDML QAAVTMSLET VRNDLKTEGK 360 K 362 |
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| Database | Annotation |
|---|---|
| CTD (Curated) (count: 2) | MESH:D009410
; Nerve Degeneration MESH:D017827 ; Machado-Joseph Disease |
| DisGeNet (Curated) (count: 40) (view all) | C0005745; Blepharoptosis
C0011168; Deglutition Disorders C0011570; Mental Depression C0011581; Depressive disorder C0012569; Diplopia C0015300; Exophthalmos |
| HGMD (count: 3) | CE050956; Machado-Joseph disease; Repeat variations
CX941945; Machado-Joseph disease; Repeat variations CE041217; Machado-Joseph disease; Repeat variations |
| GWASdb (count: 6) | rs8004149; Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs); neutropenia
rs12588287; Coronary artery calcification; coronary artery disease rs1048755; Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs); neutropenia rs17807815; Alcohol dependence; alcohol dependence rs17807815; Orofacial clefts; orofacial cleft rs1997919; Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs); neutropenia |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 9) (view all) | 219 VLEANDGSGMLDEDE dbPAF
236 LQRALALSRQEIDME dbPAF 256 LRRAIQLSMQGSSRN dbPAF 260 IQLSMQGSSRNISQD dbPAF 261 QLSMQGSSRNISQDM dbPAF 265 QGSSRNISQDMTQTS dbPAF |
| Acetylation (count: 1) | 200 GEELAQLKEQRVHKT PLMD |
| Ubiquitination (count: 5) | 117 RSFICNYKEHWFTVR PLMD
190 VQQMHRPKLIGEELA PLMD 200 GEELAQLKEQRVHKT PLMD 206 LKEQRVHKTDLERVL PLMD 291 RREAYFEKQQQKQQQ PLMD |
| Sumoylation (count: 1) | 166 GYSIFVVKGDLPDCE PLMD |
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