Fields »
ABOUT
HELP
BLOG
ATXN3

GENERAL INFORMATION

Gene name

 ATXN3

Gene description

 Ataxin 3

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 19
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and nuclear expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene. Pending external verification.

Reliability score

 Uncertain based on 2 antibodies.
HPA024123 , CAB021976
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ATXN3 (HGNC Symbol)

Synonyms

 ATX3, JOS, MJD, SCA3

Description

 Ataxin 3 (HGNC Symbol)

Entrez gene summary

 Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]

Chromosome

 14

Cytoband

 q32.12

Chromosome location (bp)

 92038652 - 92106621

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000066427 (version 83.38)

Entrez gene

 4287

UniProt

 P54252 (UniProt - Evidence at protein level)

neXtProt

 NX_P54252

Antibodypedia

 ATXN3 antibodies

PROTEIN BROWSER
«
ATXN3-001
ATXN3-003
ATXN3-004
ATXN3-005
ATXN3-008
ATXN3-014
ATXN3-015
ATXN3-017
ATXN3-019
ATXN3-020
ATXN3-026
ATXN3-029
ATXN3-032
ATXN3-201
ATXN3-202
ATXN3-203
ATXN3-204
ATXN3-205
ATXN3-206
»

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ATXN3-001
ENSP00000478320
ENST00000558190
P54252 [Direct mapping]
Ataxin-3
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0004843 [ubiquitin-specific protease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005759 [mitochondrial matrix]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006289 [nucleotide-excision repair]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0006515 [misfolded or incompletely synthesized protein catabolic process]
GO:0007268 [synaptic transmission]
GO:0007399 [nervous system development]
GO:0008242 [omega peptidase activity]
GO:0010810 [regulation of cell-substrate adhesion]
GO:0016363 [nuclear matrix]
GO:0016579 [protein deubiquitination]
GO:0030036 [actin cytoskeleton organization]
GO:0031625 [ubiquitin protein ligase binding]
GO:0031966 [mitochondrial membrane]
GO:0034605 [cellular response to heat]
GO:0035520 [monoubiquitinated protein deubiquitination]
GO:0042405 [nuclear inclusion body]
GO:0042802 [identical protein binding]
GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process]
GO:0045104 [intermediate filament cytoskeleton organization]
GO:0051117 [ATPase binding]
GO:0061578 [Lys63-specific deubiquitinase activity]
GO:0070536 [protein K63-linked deubiquitination]
GO:0071108 [protein K48-linked deubiquitination]
GO:0071218 [cellular response to misfolded protein]
GO:1904294 [positive regulation of ERAD pathway]
GO:1904379 [protein localization to cytosolic proteasome complex involved in ERAD pathway]
GO:1990380 [Lys48-specific deubiquitinase activity]
Show all
 361 aa
41.2 kDa 		No 0
ATXN3-003
ENSP00000339110
ENST00000340660
P54252 [Direct mapping]
Ataxin-3
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0004843 [ubiquitin-specific protease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005759 [mitochondrial matrix]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006289 [nucleotide-excision repair]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0006515 [misfolded or incompletely synthesized protein catabolic process]
GO:0007268 [synaptic transmission]
GO:0007399 [nervous system development]
GO:0008242 [omega peptidase activity]
GO:0010810 [regulation of cell-substrate adhesion]
GO:0016363 [nuclear matrix]
GO:0016579 [protein deubiquitination]
GO:0030036 [actin cytoskeleton organization]
GO:0031625 [ubiquitin protein ligase binding]
GO:0031966 [mitochondrial membrane]
GO:0034605 [cellular response to heat]
GO:0035520 [monoubiquitinated protein deubiquitination]
GO:0042405 [nuclear inclusion body]
GO:0042802 [identical protein binding]
GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process]
GO:0045104 [intermediate filament cytoskeleton organization]
GO:0051117 [ATPase binding]
GO:0061578 [Lys63-specific deubiquitinase activity]
GO:0070536 [protein K63-linked deubiquitination]
GO:0071108 [protein K48-linked deubiquitination]
GO:0071218 [cellular response to misfolded protein]
GO:1904294 [positive regulation of ERAD pathway]
GO:1904379 [protein localization to cytosolic proteasome complex involved in ERAD pathway]
GO:1990380 [Lys48-specific deubiquitinase activity]
Show all
 306 aa
35 kDa 		No 0
ATXN3-004
ENSP00000425322
ENST00000502250
P54252 [Direct mapping]
Ataxin-3
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0004843 [ubiquitin-specific protease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005759 [mitochondrial matrix]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006289 [nucleotide-excision repair]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0006515 [misfolded or incompletely synthesized protein catabolic process]
GO:0007268 [synaptic transmission]
GO:0007399 [nervous system development]
GO:0008242 [omega peptidase activity]
GO:0010810 [regulation of cell-substrate adhesion]
GO:0016363 [nuclear matrix]
GO:0016579 [protein deubiquitination]
GO:0030036 [actin cytoskeleton organization]
GO:0031625 [ubiquitin protein ligase binding]
GO:0031966 [mitochondrial membrane]
GO:0034605 [cellular response to heat]
GO:0035520 [monoubiquitinated protein deubiquitination]
GO:0042405 [nuclear inclusion body]
GO:0042802 [identical protein binding]
GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process]
GO:0045104 [intermediate filament cytoskeleton organization]
GO:0051117 [ATPase binding]
GO:0061578 [Lys63-specific deubiquitinase activity]
GO:0070536 [protein K63-linked deubiquitination]
GO:0071108 [protein K48-linked deubiquitination]
GO:0071218 [cellular response to misfolded protein]
GO:1904294 [positive regulation of ERAD pathway]
GO:1904379 [protein localization to cytosolic proteasome complex involved in ERAD pathway]
GO:1990380 [Lys48-specific deubiquitinase activity]
Show all
 182 aa
20.6 kDa 		No 0
ATXN3-005
ENSP00000426697
ENST00000503767
P54252 [Direct mapping]
Ataxin-3
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0004843 [ubiquitin-specific protease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005759 [mitochondrial matrix]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006289 [nucleotide-excision repair]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0006515 [misfolded or incompletely synthesized protein catabolic process]
GO:0007268 [synaptic transmission]
GO:0007399 [nervous system development]
GO:0008242 [omega peptidase activity]
GO:0010810 [regulation of cell-substrate adhesion]
GO:0016363 [nuclear matrix]
GO:0016579 [protein deubiquitination]
GO:0030036 [actin cytoskeleton organization]
GO:0031625 [ubiquitin protein ligase binding]
GO:0031966 [mitochondrial membrane]
GO:0034605 [cellular response to heat]
GO:0035520 [monoubiquitinated protein deubiquitination]
GO:0042405 [nuclear inclusion body]
GO:0042802 [identical protein binding]
GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process]
GO:0045104 [intermediate filament cytoskeleton organization]
GO:0051117 [ATPase binding]
GO:0061578 [Lys63-specific deubiquitinase activity]
GO:0070536 [protein K63-linked deubiquitination]
GO:0071108 [protein K48-linked deubiquitination]
GO:0071218 [cellular response to misfolded protein]
GO:1904294 [positive regulation of ERAD pathway]
GO:1904379 [protein localization to cytosolic proteasome complex involved in ERAD pathway]
GO:1990380 [Lys48-specific deubiquitinase activity]
Show all
 346 aa
39.6 kDa 		No 0
ATXN3-008
ENSP00000435571
ENST00000506466
E9PJN5 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 205 aa
23.5 kDa 		No 0
ATXN3-014
ENSP00000474067
ENST00000526872
S4R399 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 199 aa
23 kDa 		No 0
ATXN3-015
ENSP00000437157
ENST00000532032
P54252 [Direct mapping]
Ataxin-3
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000226 [microtubule cytoskeleton organization]
GO:0004843 [ubiquitin-specific protease activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005759 [mitochondrial matrix]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006289 [nucleotide-excision repair]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006511 [ubiquitin-dependent protein catabolic process]
GO:0006515 [misfolded or incompletely synthesized protein catabolic process]
GO:0007268 [synaptic transmission]
GO:0007399 [nervous system development]
GO:0008242 [omega peptidase activity]
GO:0010810 [regulation of cell-substrate adhesion]
GO:0016363 [nuclear matrix]
GO:0016579 [protein deubiquitination]
GO:0030036 [actin cytoskeleton organization]
GO:0031625 [ubiquitin protein ligase binding]
GO:0031966 [mitochondrial membrane]
GO:0034605 [cellular response to heat]
GO:0035520 [monoubiquitinated protein deubiquitination]
GO:0042405 [nuclear inclusion body]
GO:0042802 [identical protein binding]
GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process]
GO:0045104 [intermediate filament cytoskeleton organization]
GO:0051117 [ATPase binding]
GO:0061578 [Lys63-specific deubiquitinase activity]
GO:0070536 [protein K63-linked deubiquitination]
GO:0071108 [protein K48-linked deubiquitination]
GO:0071218 [cellular response to misfolded protein]
GO:1904294 [positive regulation of ERAD pathway]
GO:1904379 [protein localization to cytosolic proteasome complex involved in ERAD pathway]
GO:1990380 [Lys48-specific deubiquitinase activity]
Show all
 364 aa
41.8 kDa 		No 1
ATXN3-017
ENSP00000451001
ENST00000555381
G3V328 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 260 aa
30 kDa 		No 0
ATXN3-019
ENSP00000451417
ENST00000554672
G3V3T6 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 232 aa
26.7 kDa 		No 0
ATXN3-020
ENSP00000450642
ENST00000557311
G3V2G2 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 151 aa
17.3 kDa 		No 0
ATXN3-026
ENSP00000451385
ENST00000554592
G3V3R7 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 329 aa
37.7 kDa 		No 0
ATXN3-029
ENSP00000450641
ENST00000556220
G3V2G1 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 223 aa
25.4 kDa 		No 0
ATXN3-032
ENSP00000451996
ENST00000553491
G3V4U9 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 278 aa
31.6 kDa 		No 0
ATXN3-201
ENSP00000376965
ENST00000393287
A0A0A0MS38 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 310 aa
35.1 kDa 		No 0
ATXN3-202
ENSP00000389376
ENST00000429774
C9JQV6 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 291 aa
33.4 kDa 		No 0
ATXN3-203
ENSP00000445618
ENST00000545170
F5H211 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 370 aa
42.4 kDa 		No 0
ATXN3-204
ENSP00000481998
ENST00000617719
D3VVH9 [Direct mapping]
Ataxin 3 variant m; Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 301 aa
34.8 kDa 		No 0
ATXN3-205
ENSP00000484016
ENST00000620536
A0A087X1A8 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 324 aa
37.7 kDa 		No 0
ATXN3-206
ENSP00000481390
ENST00000621269
A0A087WXY4 [Direct mapping]
Ataxin-3
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008242 [omega peptidase activity]
Show all
 288 aa
33.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.