Gene Symbol | ATXN3 |
Entrez ID | 4287 |
Uniprot ID | P54252 |
Description | ataxin 3 |
Chromosomal Location | chr14: 92,038,652-92,106,621 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000226 |
microtubule cytoskeleton organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
IMP |
BP |
GO:0006289 |
nucleotide-excision repair |
A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
TAS |
BP |
GO:0006351 |
transcription, DNA-templated |
The cellular synthesis of RNA on a template of DNA. |
IEA |
BP |
GO:0006355 |
regulation of transcription, DNA-templated |
Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
IEA |
BP |
GO:0006511 |
ubiquitin-dependent protein catabolic process |
The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein. |
ISS |
BP |
GO:0006515 |
misfolded or incompletely synthesized protein catabolic process |
The chemical reactions and pathways resulting in the breakdown of misfolded or attenuated proteins. |
ISS |
BP |
GO:0007268 |
chemical synaptic transmission |
The vesicular release of classical neurotransmitter molecules from a neuron, across a chemical synapse, the subsequent activation of neurotransmitter receptors of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. |
TAS |
BP |
GO:0007399 |
nervous system development |
The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
TAS |
BP |
GO:0010810 |
regulation of cell-substrate adhesion |
Any process that modulates the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules. |
IMP |
BP |
GO:0016579 |
protein deubiquitination |
The removal of one or more ubiquitin groups from a protein. |
IMP |
BP |
GO:0030036 |
actin cytoskeleton organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
IMP |
BP |
GO:0034605 |
cellular response to heat |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
ISS |
BP |
GO:0035520 |
monoubiquitinated protein deubiquitination |
The removal of the ubiquitin group from a monoubiquitinated protein. |
ISS |
BP |
GO:0043161 |
proteasome-mediated ubiquitin-dependent protein catabolic process |
The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
ISS |
BP |
GO:0045104 |
intermediate filament cytoskeleton organization |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising intermediate filaments and their associated proteins. |
IMP |
BP |
GO:0070536 |
protein K63-linked deubiquitination |
A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein. |
IDA |
BP |
GO:0071108 |
protein K48-linked deubiquitination |
A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein. |
IDA |
BP |
GO:0071218 |
cellular response to misfolded protein |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a misfolded protein stimulus. |
ISS |
BP |
GO:1904294 |
positive regulation of ERAD pathway |
Any process that activates or increases the frequency, rate or extent of ERAD pathway. |
IMP |
BP |
GO:1904379 |
protein localization to cytosolic proteasome complex involved in ERAD pathway |
Any protein localization to cytosolic proteasome complex that is involved in ERAD pathway. Following their retrotranslocation out of the endoplasmic reticulum, protein substrates must be shuttled to the cytosolic proteasome for degradation. |
IMP |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IDA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
TAS |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
TAS |
CC |
GO:0005759 |
mitochondrial matrix |
The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
ISS |
CC |
GO:0005789 |
endoplasmic reticulum membrane |
The lipid bilayer surrounding the endoplasmic reticulum. |
IDA |
CC |
GO:0005829 |
cytosol |
The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
IDA |
CC |
GO:0016363 |
nuclear matrix |
The dense fibrillar network lying on the inner side of the nuclear membrane. |
IEA |
CC |
GO:0031966 |
mitochondrial membrane |
Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. |
ISS |
CC |
GO:0042405 |
nuclear inclusion body |
An intranuclear focus at which aggregated proteins have been sequestered. |
ISS |
MF |
GO:0004843 |
thiol-dependent ubiquitin-specific protease activity |
Catalysis of the thiol-dependent hydrolysis of a peptide bond formed by the C-terminal glycine of ubiquitin and another protein. |
ISS |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0031625 |
ubiquitin protein ligase binding |
Interacting selectively and non-covalently with a ubiquitin protein ligase enzyme, any of the E3 proteins. |
IPI|ISS |
MF |
GO:0042802 |
identical protein binding |
Interacting selectively and non-covalently with an identical protein or proteins. |
IPI |
MF |
GO:0051117 |
ATPase binding |
Interacting selectively and non-covalently with an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
IPI |
MF |
GO:0061578 |
Lys63-specific deubiquitinase activity |
Hydrolysis of Lys63-Linked ubiquitin unit(s) from a ubiquitinated protein. |
IDA |
MF |
GO:1990380 |
Lys48-specific deubiquitinase activity |
Hydrolysis of Lys48-linked ubiquitin unit(s) from a ubiquitinated protein. |
IDA |
Domain ID | Description |
---|---|
IPR003903 |
Ubiquitin interacting motif |
IPR006155 |
Josephin domain |
IPR011990 |
Tetratricopeptide-like helical domain |
IPR033865 |
Machado-Joseph disease protein |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa04141 |
Protein processing in endoplasmic reticulum |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0024408 |
Machado-Joseph Disease |
C0027746 |
Nerve Degeneration |
C0751668 |
Machado-Joseph Disease Type I |
C0751669 |
Machado-Joseph Disease Type Ii |
C0751670 |
Machado-Joseph Disease Type Iii |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
appendix |
glandular cells |
appendix |
lymphoid tissue |
bone marrow |
hematopoietic cells |
breast |
adipocytes |
breast |
glandular cells |
breast |
myoepithelial cells |
bronchus |
respiratory epithelial cells |
cervix, uterine |
glandular cells |
cervix, uterine |
squamous epithelial cells |
colon |
endothelial cells |
colon |
glandular cells |
colon |
peripheral nerve/ganglion |
duodenum |
glandular cells |
endometrium |
glandular cells |
epididymis |
glandular cells |
esophagus |
squamous epithelial cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
lung |
macrophages |
lung |
pneumocytes |
lymph node |
germinal center cells |
lymph node |
non-germinal center cells |
nasopharynx |
respiratory epithelial cells |
ovary |
follicle cells |
pancreas |
exocrine glandular cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
prostate |
glandular cells |
rectum |
glandular cells |
skin |
fibroblasts |
skin |
keratinocytes |
skin |
Langerhans |
skin |
melanocytes |
skin |
epidermal cells |
small intestine |
glandular cells |
soft tissue |
adipocytes |
soft tissue |
fibroblasts |
soft tissue |
peripheral nerve |
spleen |
cells in red pulp |
spleen |
cells in white pulp |
stomach |
glandular cells |
testis |
cells in seminiferous ducts |
thyroid gland |
glandular cells |
tonsil |
germinal center cells |
tonsil |
non-germinal center cells |
tonsil |
squamous epithelial cells |
urinary bladder |
urothelial cells |
vagina |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
17148555 |
Wood et al. |
2007 |
Molecular Abnormalities in Oocytes from Women with Polycystic Ovary Syndrome Revealed by Microarray Analysis |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
UBA1 |
7317 |
P22314 |
0.49 |
UBE2V1 |
387522 |
Q13404 |
0.49 |
TRAF6 |
7189 |
Q9Y4K3 |
0.52 |
UBB |
7314 |
P0CG47 |
0.52 |
UBE2S |
27338 |
Q16763 |
0.52 |
APP |
351 |
P05067 |
0.56 |
UBE2G1 |
7326 |
P62253 |
0.56 |
UBE2L1 |
283556 |
N/A |
0.56 |
CASP1 |
834 |
P29466 |
0.62 |
ASIC1 |
41 |
P78348 |
0.63 |
ARHGDIA |
396 |
P52565 |
0.63 |
BCL2L1 |
598 |
Q07817 |
0.63 |
CREB1 |
1385 |
P16220 |
0.63 |
XRCC6 |
2547 |
P12956 |
0.63 |
HLA-A |
3105 |
P01891 |
0.63 |
HLA-A |
3105 |
P30443 |
0.63 |
PML |
5371 |
P29590 |
0.63 |
PSMC5 |
5705 |
P62195 |
0.63 |
SDC2 |
6383 |
P34741 |
0.63 |
SRI |
6717 |
P30626 |
0.63 |
PICK1 |
9463 |
Q9NRD5 |
0.63 |
TELO2 |
9894 |
Q9Y4R8 |
0.63 |
PARVA |
55742 |
Q9NVD7 |
0.63 |
TEX11 |
56159 |
Q8IYF3 |
0.63 |
ITCH |
83737 |
Q96J02 |
0.63 |
SYVN1 |
84447 |
Q86TM6 |
0.63 |
ARHGAP19 |
84986 |
Q14CB8 |
0.63 |
CSNK2B |
1460 |
P67870 |
0.65 |
MGRN1 |
23295 |
O60291 |
0.65 |
UBE2N |
7334 |
P61088 |
0.66 |
EP300 |
2033 |
Q09472 |
0.68 |
HDAC3 |
8841 |
O15379 |
0.68 |
KAT2B |
8850 |
Q92831 |
0.68 |
SQSTM1 |
8878 |
Q13501 |
0.68 |
PSMD7 |
5713 |
P51665 |
0.70 |
CANX |
821 |
P27824 |
0.72 |
SLC3A2 |
6520 |
P08195 |
0.72 |
BCL7C |
9274 |
Q8WUZ0 |
0.72 |
RSF1 |
51773 |
Q96T23 |
0.72 |
TMCO1 |
54499 |
Q9UM00 |
0.72 |
CNOT6 |
57472 |
Q9ULM6 |
0.72 |
CAMSAP3 |
57662 |
Q9P1Y5 |
0.72 |
KCTD10 |
83892 |
Q9H3F6 |
0.72 |
PSRC1 |
84722 |
Q6PGN9 |
0.72 |
NDUFAF2 |
91942 |
Q8N183 |
0.72 |
TIMM23 |
100287932 |
O14925 |
0.72 |
HAP1 |
9001 |
P54257 |
0.73 |
NEDD8 |
4738 |
Q15843 |
0.75 |
C16orf70 |
80262 |
Q9BSU1 |
0.75 |
USP13 |
8975 |
Q92995 |
0.76 |
OTUB2 |
78990 |
Q96DC9 |
0.76 |
CREBBP |
1387 |
Q92793 |
0.78 |
UBE4B |
10277 |
O95155 |
0.78 |
STUB1 |
10273 |
Q9UNE7 |
0.81 |
SUMO1 |
7341 |
P63165 |
0.82 |
UBC |
7316 |
P0CG48 |
0.85 |
ATXN3 |
4287 |
P54252 |
0.87 |
VCP |
7415 |
P55072 |
0.99 |
HSPA4 |
3308 |
P34932 |
0.52 |
MAP3K1 |
4214 |
Q13233 |
0.52 |
PSMD4 |
5710 |
P55036 |
0.52 |
USP21 |
27005 |
Q9UK80 |
0.52 |
TRIM54 |
57159 |
Q9BYV2 |
0.52 |
PJA1 |
64219 |
Q8NG27 |
0.52 |
TRIM55 |
84675 |
Q9BYV6 |
0.52 |
TRIM63 |
84676 |
Q969Q1 |
0.52 |
RFFL |
117584 |
Q8WZ73 |
0.52 |
TUBA1A |
7846 |
Q71U36 |
0.56 |
HDAC6 |
10013 |
Q9UBN7 |
0.56 |
TUBB |
203068 |
P07437 |
0.56 |
CASP3 |
836 |
P42574 |
0.59 |
ANXA7 |
310 |
P20073 |
0.63 |
CDKN1A |
1026 |
P38936 |
0.63 |
DNM2 |
1785 |
P50570 |
0.63 |
EWSR1 |
2130 |
Q01844 |
0.63 |
DNAJB2 |
3300 |
P25686 |
0.63 |
NFKBIA |
4792 |
P25963 |
0.63 |
RPL6 |
6128 |
Q02878 |
0.63 |
RPS6KA1 |
6195 |
Q15418 |
0.63 |
TK1 |
7083 |
P04183 |
0.63 |
MKNK1 |
8569 |
Q9BUB5 |
0.63 |
BAG3 |
9531 |
O95817 |
0.63 |
SPRTN |
83932 |
Q9H040 |
0.63 |
AEBP2 |
121536 |
Q6ZN18 |
0.63 |
DND1 |
373863 |
Q8IYX4 |
0.63 |
TOMM20L |
387990 |
Q6UXN7 |
0.63 |
AMFR |
267 |
Q9UKV5 |
0.65 |
FOXO4 |
4303 |
P98177 |
0.65 |
PNKP |
11284 |
Q96T60 |
0.65 |
UBE2L3 |
7332 |
P68036 |
0.66 |
NCOR1 |
9611 |
O75376 |
0.68 |
UBQLN1 |
29979 |
Q9UMX0 |
0.73 |
GSK3B |
2932 |
P49841 |
0.85 |
PARK2 |
5071 |
O60260 |
0.90 |
RAD23A |
5886 |
P54725 |
0.90 |
RAD23B |
5887 |
P54727 |
0.90 |