Protein Description

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

No databases found.

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