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
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
	4287
	n/a
	ENSG00000066427
	n/a
	P54252; Q4VBR4
	n/a
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
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
	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]

Cyfystyron

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.

AT3
JOS
MJD
ATX3
MJD1
SCA3

Llyfryddiaeth

"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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] ATXN3 - Cronfa NCBI

[1]

[2]