ATXN3

ATXN3
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1YZB, 2AGA, 2DOS, 2JRI, 2KLZ, 4WTH, 4YS9
Dynodwyr
Cyfenwau	ATXN3, AT3, ATX3, JOS, MJD, MJD1, SCA3, Ataxin 3
Dynodwyr allanol	OMIM: 607047 HomoloGene: 3658 GeneCards: ATXN3
EC number	3.4.19.12
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • Lys63-specific deubiquitinase activity • cysteine-type peptidase activity • ATPase binding • Lys48-specific deubiquitinase activity • GO:0070122 peptidase activity • GO:0001948, GO:0016582 protein binding • identical protein binding • hydrolase activity • thiol-dependent deubiquitinase • ubiquitin protein ligase binding • histone deacetylase activity Cydrannau o'r gell • endoplasmic reticulum membrane • nuclear matrix • nucleoplasm • cnewyllyn cell • nucleolus • cytosol • cellbilen • cytoplasm • mitochondrial matrix • mitochondrial membranes • nuclear inclusion body Prosesau biolegol • nucleotide-excision repair • GO:0009373 regulation of transcription, DNA-templated • protein K48-linked deubiquitination • positive regulation of ERAD pathway • transcription, DNA-templated • nervous system development • proteolysis • protein K63-linked deubiquitination • intermediate filament cytoskeleton organization • protein localization to cytosolic proteasome complex involved in ERAD pathway • microtubule cytoskeleton organization • actin cytoskeleton organization • chemical synaptic transmission • protein deubiquitination • ubiquitin-dependent protein catabolic process • protein quality control for misfolded or incompletely synthesized proteins • regulation of cell-substrate adhesion • cellular response to heat • monoubiquitinated protein deubiquitination • proteasome-mediated ubiquitin-dependent protein catabolic process • cellular response to misfolded protein • exploration behavior • histone H3 deacetylation Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	4287	n/a
Ensembl	ENSG00000066427	n/a
UniProt	P54252 Q4VBR4	n/a
RefSeq (mRNA)	NM_001024631 NM_001127696 NM_001127697 NM_001164774 NM_001164776 NM_001164777 NM_001164778 NM_001164779 NM_001164780 NM_001164781 NM_001164782 NM_004993 NM_030660	n/a
RefSeq (protein)	NP_001121168 NP_001121169 NP_001158246 NP_001158248 NP_001158249 NP_001158250 NP_001158251 NP_001158252 NP_001158253 NP_001158254 NP_004984 NP_109376	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn ATXN3 yw ATXN3 a elwir hefyd yn Ataxin 3 variant h, Ataxin 3 variant ref, Ataxin 3 ac Ataxin 3 variant m (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 14, band 14q32.12.^[2]

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn ATXN3.

• "A combinatorial approach to identify calpain cleavage sites in the Machado-Joseph disease protein ataxin-3. ". Brain. 2017. PMID 28334907.
• "Alteration of methylation status in the ATXN3 gene promoter region is linked to the SCA3/MJD. ". Neurobiol Aging. 2017. PMID 28094059.
• "Autophagy Promoted the Degradation of Mutant ATXN3 in Neurally Differentiated Spinocerebellar Ataxia-3 Human Induced Pluripotent Stem Cells. ". Biomed Res Int. 2016. PMID 27847820.
• "Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions. ". Clin Genet. 2016. PMID 26693702.
• "Infrared nanospectroscopy characterization of oligomeric and fibrillar aggregates during amyloid formation.". Nat Commun. 2015. PMID 26215704.