ATXN3 - ataxin 3 Gene

Also Known as AT3; JOS; MJD; ATX3; MJD1; SCA3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4287

About ATXN3

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:92,058,552-92,106,582 (from NCBI)

This gene has 54 transcripts (splice variants), 218 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in skin (RPKM 4.6), testis (RPKM 3.0) and 25 other tissues.

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 12-44 to 52-86 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, Jul 2016]

ATXN3 Products (12)

mRNA Protein Name
NM_001127696.2 NP_001121168.1 ataxin-3 isoform ad
NM_001127697.3 NP_001121169.2 ataxin-3 isoform e
NM_001164774.2 NP_001158246.1 ataxin-3 isoform b
NM_001164776.2 NP_001158248.1 ataxin-3 isoform g
NM_001164777.2 NP_001158249.1 ataxin-3 isoform j
NM_001164778.2 NP_001158250.1 ataxin-3 isoform o
NM_001164779.2 NP_001158251.1 ataxin-3 isoform r
NM_001164780.2 NP_001158252.1 ataxin-3 isoform u
NM_001164781.2 NP_001158253.1 ataxin-3 isoform y
NM_001164782.2 NP_001158254.1 ataxin-3 isoform ae
NM_004993.6 NP_004984.2 ataxin-3 reference isoform
NM_030660.5 NP_109376.1 ataxin-3 isoform h
Molecular Function GO Annotation Evidence Verweise Source
enables ATPase binding IPI
IPI: Inferred from physical interaction
17000876 GOA
enables K48-linked deubiquitinase activity IDA
IDA: Inferred from direct assay
22970133 GOA
enables K63-linked deubiquitinase activity IDA
IDA: Inferred from direct assay
22970133 GOA
enables cysteine-type deubiquitinase activity IDA
IDA: Inferred from direct assay
33157014 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
16525503 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16525503 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
24063750 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in cytosol IDA
IDA: Inferred from direct assay
24548080 GOA
colocalizes with endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
17000876 GOA
is active in lysosomal membrane IDA
IDA: Inferred from direct assay
33157014 GOA
located in nucleus IDA
IDA: Inferred from direct assay
24548080 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATXN3 Protein Structure

Josephin

Josephin: Josephin (8 - 167)

UIM

UIM: Ubiquitin interaction motif (223 - 239)

UIM

UIM: Ubiquitin interaction motif (243 - 259)

  • 0
  • 100
  • 200
  • 300
  • 364 a.a.
Protein Preferred Names Protein Names

ataxin-3

  • Machado-Joseph disease protein 1

ATXN3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
ATXN3 P54252 ADAMTSL4 Homo sapiens Q6UY14-3 32814053
Intra
ATXN3 P54252 ADAMTSL4 Homo sapiens Q6UY14-3 32814053
Intra
ATXN3 P54252 ADAMTSL4 Homo sapiens Q6UY14-3 32814053
Intra
ATXN3 P54252 SPMIP4 Homo sapiens Q8N865 32814053
Intra
ATXN3 P54252 SPMIP4 Homo sapiens Q8N865 32814053
Intra
ATXN3 P54252 SPMIP4 Homo sapiens Q8N865 32814053
Intra
ATXN3 P54252 BSCL2 Homo sapiens Q96G97-4 32814053
Intra
ATXN3 P54252 BSCL2 Homo sapiens Q96G97-4 32814053
Intra
ATXN3 P54252 BSCL2 Homo sapiens Q96G97-4 32814053
Intra
ATXN3 P54252 CREB5 Homo sapiens Q02930-3 32814053
Intra
ATXN3 P54252 CREB5 Homo sapiens Q02930-3 32814053
Intra
ATXN3 P54252 CREB5 Homo sapiens Q02930-3 32814053
Intra
ATXN3 P54252 CDKAL1 Homo sapiens Q5VV42 32814053
Intra
ATXN3 P54252 CDKAL1 Homo sapiens Q5VV42 32814053
Intra
ATXN3 P54252 CDKAL1 Homo sapiens Q5VV42 32814053
Intra
ATXN3 P54252 RUSC1-AS1 Homo sapiens Q66K80 32814053
Intra
ATXN3 P54252 RUSC1-AS1 Homo sapiens Q66K80 32814053
Intra
ATXN3 P54252 RUSC1-AS1 Homo sapiens Q66K80 32814053
Intra
ATXN3 P54252 LHX6 Homo sapiens Q9UPM6 32814053
Intra
ATXN3 P54252 LHX6 Homo sapiens Q9UPM6 32814053
Intra
ATXN3 P54252 LHX6 Homo sapiens Q9UPM6 32814053
Intra
ATXN3 P54252 OTUB2 Homo sapiens Q9BWI9 32814053
Intra
ATXN3 P54252 OTUB2 Homo sapiens Q9BWI9 32814053
Intra
ATXN3 P54252 OTUB2 Homo sapiens Q9BWI9 32814053
Intra
ATXN3 P54252 AAMDC Homo sapiens Q9H7C9 32814053
Intra
ATXN3 P54252 AAMDC Homo sapiens Q9H7C9 32814053
Intra
ATXN3 P54252 AAMDC Homo sapiens Q9H7C9 32814053
Intra
ATXN3 P54252 TELO2 Homo sapiens Q9Y4R8 32814053
Intra
ATXN3 P54252 TELO2 Homo sapiens Q9Y4R8 32814053
Intra
ATXN3 P54252 TELO2 Homo sapiens Q9Y4R8 32814053
Intra
ATXN3 P54252 CLPP Homo sapiens Q16740 32814053
Intra
ATXN3 P54252 CLPP Homo sapiens Q16740 32814053
Intra
ATXN3 P54252 CLPP Homo sapiens Q16740 32814053
Intra
ATXN3 P54252 NUP43 Homo sapiens Q8NFH3 32814053
Intra
ATXN3 P54252 NUP43 Homo sapiens Q8NFH3 32814053
Intra
ATXN3 P54252 NUP43 Homo sapiens Q8NFH3 32814053
Intra
ATXN3 P54252 ZHX3 Homo sapiens Q9H4I2-2 32814053
Intra
ATXN3 P54252 ZHX3 Homo sapiens Q9H4I2-2 32814053
Intra
ATXN3 P54252 ZHX3 Homo sapiens Q9H4I2-2 32814053
Intra
ATXN3 P54252 MTF2 Homo sapiens Q9Y483-4 32814053
Intra
ATXN3 P54252 MTF2 Homo sapiens Q9Y483-4 32814053
Intra
ATXN3 P54252 MTF2 Homo sapiens Q9Y483-4 32814053
Intra
ATXN3 P54252 PATZ1 Homo sapiens Q9HBE1-4 32814053
Intra
ATXN3 P54252 PATZ1 Homo sapiens Q9HBE1-4 32814053
Intra
ATXN3 P54252 PATZ1 Homo sapiens Q9HBE1-4 32814053
Intra
ATXN3 P54252 PLAUR Homo sapiens Q03405-2 32814053
Intra
ATXN3 P54252 PLAUR Homo sapiens Q03405-2 32814053
Intra
ATXN3 P54252 PLAUR Homo sapiens Q03405-2 32814053
Intra
ATXN3 P54252 LDHAL6B Homo sapiens Q9BYZ2 32814053
Intra
ATXN3 P54252 LDHAL6B Homo sapiens Q9BYZ2 32814053
Intra
ATXN3 P54252 LDHAL6B Homo sapiens Q9BYZ2 32814053
Intra
ATXN3 P54252 GDAP1 Homo sapiens Q8TB36 32814053
Intra
ATXN3 P54252 GDAP1 Homo sapiens Q8TB36 32814053
Intra
ATXN3 P54252 GDAP1 Homo sapiens Q8TB36 32814053
Intra
ATXN3 P54252 TEX11 Homo sapiens Q8IYF3-3 32814053
Intra
ATXN3 P54252 TEX11 Homo sapiens Q8IYF3-3 32814053
Intra
ATXN3 P54252 TEX11 Homo sapiens Q8IYF3-3 32814053
Intra
ATXN3 P54252 SPAG8 Homo sapiens Q99932-2 32814053
Intra
ATXN3 P54252 SPAG8 Homo sapiens Q99932-2 32814053
Intra
ATXN3 P54252 SPAG8 Homo sapiens Q99932-2 32814053
Intra
ATXN3 P54252 DLGAP2 Homo sapiens Q9P1A6-3 32814053
Intra
ATXN3 P54252 DLGAP2 Homo sapiens Q9P1A6-3 32814053
Intra
ATXN3 P54252 DLGAP2 Homo sapiens Q9P1A6-3 32814053
Intra
ATXN3 P54252 MALT1 Homo sapiens Q9UDY8-2 32814053
Intra
ATXN3 P54252 MALT1 Homo sapiens Q9UDY8-2 32814053
Intra
ATXN3 P54252 MALT1 Homo sapiens Q9UDY8-2 32814053
Intra
ATXN3 P54252 CCDC17 Homo sapiens Q96LX7-5 32814053
Intra
ATXN3 P54252 CCDC17 Homo sapiens Q96LX7-5 32814053
Intra
ATXN3 P54252 CCDC17 Homo sapiens Q96LX7-5 32814053
Intra
ATXN3 P54252 SYTL5 Homo sapiens Q8TDW5-2 32814053
Intra
ATXN3 P54252 SYTL5 Homo sapiens Q8TDW5-2 32814053
Intra
ATXN3 P54252 SYTL5 Homo sapiens Q8TDW5-2 32814053
Intra
ATXN3 P54252 TEX19 Homo sapiens Q8NA77 32814053
Intra
ATXN3 P54252 TEX19 Homo sapiens Q8NA77 32814053
Intra
ATXN3 P54252 TEX19 Homo sapiens Q8NA77 32814053
Intra
ATXN3 P54252 TMT1A Homo sapiens Q9H8H3 32814053
Intra
ATXN3 P54252 TMT1A Homo sapiens Q9H8H3 32814053
Intra
ATXN3 P54252 TMT1A Homo sapiens Q9H8H3 32814053
Intra
ATXN3 P54252 ASB3 Homo sapiens Q9Y575-3 32814053
Intra
ATXN3 P54252 ASB3 Homo sapiens Q9Y575-3 32814053
Intra
ATXN3 P54252 ASB3 Homo sapiens Q9Y575-3 32814053
Intra
ATXN3 P54252 RPL6 Homo sapiens Q8TBK5 32814053
Intra
ATXN3 P54252 RPL6 Homo sapiens Q8TBK5 32814053
Intra
ATXN3 P54252 RPL6 Homo sapiens Q8TBK5 32814053
Intra
ATXN3 P54252 TLR10 Homo sapiens Q9BXR5 32814053
Intra
ATXN3 P54252 TLR10 Homo sapiens Q9BXR5 32814053
Intra
ATXN3 P54252 TLR10 Homo sapiens Q9BXR5 32814053
Intra
ATXN3 P54252 C16orf54 Homo sapiens Q6UWD8 32814053
Intra
ATXN3 P54252 C16orf54 Homo sapiens Q6UWD8 32814053
Intra
ATXN3 P54252 C16orf54 Homo sapiens Q6UWD8 32814053
Intra
ATXN3 P54252 RNF111 Homo sapiens Q6ZNA4-2 32814053
Intra
ATXN3 P54252 RNF111 Homo sapiens Q6ZNA4-2 32814053
Intra
ATXN3 P54252 RNF111 Homo sapiens Q6ZNA4-2 32814053
Intra
ATXN3 P54252 ABHD17C Homo sapiens Q6PCB6 32814053
Intra
ATXN3 P54252 ABHD17C Homo sapiens Q6PCB6 32814053
Intra
ATXN3 P54252 ABHD17C Homo sapiens Q6PCB6 32814053
Intra
ATXN3 P54252 MKRN3 Homo sapiens Q13064 32814053
Intra
ATXN3 P54252 MKRN3 Homo sapiens Q13064 32814053
Intra
ATXN3 P54252 MKRN3 Homo sapiens Q13064 32814053
Intra
ATXN3 P54252 SPATA2L Homo sapiens Q8IUW3 32814053
Intra
ATXN3 P54252 SPATA2L Homo sapiens Q8IUW3 32814053
Intra
ATXN3 P54252 SPATA2L Homo sapiens Q8IUW3 32814053
Intra
ATXN3 P54252 PALS1 Homo sapiens Q8N3R9 32814053
Intra
ATXN3 P54252 PALS1 Homo sapiens Q8N3R9 32814053
Intra
ATXN3 P54252 PALS1 Homo sapiens Q8N3R9 32814053
Intra
ATXN3 P54252 POC1A Homo sapiens Q8NBT0 32814053
Intra
ATXN3 P54252 POC1A Homo sapiens Q8NBT0 32814053
Intra
ATXN3 P54252 POC1A Homo sapiens Q8NBT0 32814053
Intra
ATXN3 P54252 WTAP Homo sapiens Q15007-2 32814053
Intra
ATXN3 P54252 WTAP Homo sapiens Q15007-2 32814053
Intra
ATXN3 P54252 WTAP Homo sapiens Q15007-2 32814053
Intra
ATXN3 P54252 TERF2 Homo sapiens Q15554-4 32814053
Intra
ATXN3 P54252 TERF2 Homo sapiens Q15554-4 32814053
Intra
ATXN3 P54252 TERF2 Homo sapiens Q15554-4 32814053
Intra
ATXN3 P54252 SLC52A3 Homo sapiens Q9NQ40 32814053
Intra
ATXN3 P54252 SLC52A3 Homo sapiens Q9NQ40 32814053
Intra
ATXN3 P54252 SLC52A3 Homo sapiens Q9NQ40 32814053
Intra
ATXN3 P54252 EWSR1 Homo sapiens Q01844-4 32814053
Intra
ATXN3 P54252 EWSR1 Homo sapiens Q01844-4 32814053
Intra
ATXN3 P54252 EWSR1 Homo sapiens Q01844-4 32814053
Intra
ATXN3 P54252 EWSR1 Homo sapiens Q01844-3 32814053
Intra
ATXN3 P54252 EWSR1 Homo sapiens Q01844-3 32814053
Intra
ATXN3 P54252 EWSR1 Homo sapiens Q01844-3 32814053
Intra
ATXN3 P54252 RPL6 Homo sapiens Q8N5Z7 32814053
Intra
ATXN3 P54252 RPL6 Homo sapiens Q8N5Z7 32814053
Intra
ATXN3 P54252 RPL6 Homo sapiens Q8N5Z7 32814053
Intra
ATXN3 P54252 OTUB2 Homo sapiens Q96DC9-2 32814053
Intra
ATXN3 P54252 OTUB2 Homo sapiens Q96DC9-2 32814053
Intra
ATXN3 P54252 OTUB2 Homo sapiens Q96DC9-2 32814053
Intra
ATXN3 P54252 ZMAT2 Homo sapiens Q96NC0 32814053
Intra
ATXN3 P54252 ZMAT2 Homo sapiens Q96NC0 32814053
Intra
ATXN3 P54252 ZMAT2 Homo sapiens Q96NC0 32814053
Intra
ATXN3 P54252 ZNF366 Homo sapiens Q8N895 32814053
Intra
ATXN3 P54252 ZNF366 Homo sapiens Q8N895 32814053
Intra
ATXN3 P54252 ZNF366 Homo sapiens Q8N895 32814053
Intra
ATXN3 P54252 VPS37A Homo sapiens Q8NEZ2 32814053
Intra
ATXN3 P54252 VPS37A Homo sapiens Q8NEZ2 32814053
Intra
ATXN3 P54252 VPS37A Homo sapiens Q8NEZ2 32814053
Intra
ATXN3 P54252 EDRF1 Homo sapiens Q3B7T1 32814053
Intra
ATXN3 P54252 EDRF1 Homo sapiens Q3B7T1 32814053
Intra
ATXN3 P54252 EDRF1 Homo sapiens Q3B7T1 32814053
Intra
ATXN3 P54252 CRLF3 Homo sapiens Q8IUI8 32814053
Intra
ATXN3 P54252 CRLF3 Homo sapiens Q8IUI8 32814053
Intra
ATXN3 P54252 CRLF3 Homo sapiens Q8IUI8 32814053
Intra
ATXN3 P54252 ARFGAP3 Homo sapiens Q9NP61 32814053
Intra
ATXN3 P54252 ARFGAP3 Homo sapiens Q9NP61 32814053
Intra
ATXN3 P54252 ARFGAP3 Homo sapiens Q9NP61 32814053
Intra
ATXN3 P54252 HDAC10 Homo sapiens Q969S8 32814053
Intra
ATXN3 P54252 HDAC10 Homo sapiens Q969S8 32814053
Intra
ATXN3 P54252 HDAC10 Homo sapiens Q969S8 32814053
Intra
ATXN3 P54252 DCLRE1B Homo sapiens Q9H816 32814053
Intra
ATXN3 P54252 DCLRE1B Homo sapiens Q9H816 32814053
Intra
ATXN3 P54252 DCLRE1B Homo sapiens Q9H816 32814053
Intra
ATXN3 P54252 VCP Homo sapiens P55072 32814053
Intra
ATXN3 P54252 VCP Homo sapiens P55072 16525503
Intra
ATXN3 P54252 VCP Homo sapiens P55072 32814053
Intra
ATXN3 P54252 VCP Homo sapiens P55072 32814053
Intra
ATXN3 P54252 NR0B2 Homo sapiens Q15466 32814053
Intra
ATXN3 P54252 NR0B2 Homo sapiens Q15466 32814053
Intra
ATXN3 P54252 NR0B2 Homo sapiens Q15466 32814053
Intra
ATXN3 P54252 FEZ2 Homo sapiens Q9UHY8 32814053
Intra
ATXN3 P54252 FEZ2 Homo sapiens Q9UHY8 32814053
Intra
ATXN3 P54252 FEZ2 Homo sapiens Q9UHY8 32814053
Intra
ATXN3 P54252 RASSF1 Homo sapiens Q9NS23-4 32814053
Intra
ATXN3 P54252 RASSF1 Homo sapiens Q9NS23-4 32814053
Intra
ATXN3 P54252 RASSF1 Homo sapiens Q9NS23-4 32814053
Intra
ATXN3 P54252 IMMT Homo sapiens Q16891 31379806
Intra
ATXN3 P54252 IMMT Homo sapiens Q16891 31379806
Intra
ATXN3 P54252 FOXD4L6 Homo sapiens Q3SYB3 32814053
Intra
ATXN3 P54252 FOXD4L6 Homo sapiens Q3SYB3 32814053
Intra
ATXN3 P54252 FOXD4L6 Homo sapiens Q3SYB3 32814053
Intra
ATXN3 P54252 TBX22 Homo sapiens Q9Y458 32814053
Intra
ATXN3 P54252 TBX22 Homo sapiens Q9Y458 32814053
Intra
ATXN3 P54252 TBX22 Homo sapiens Q9Y458 32814053
Intra
ATXN3 P54252 SH3GL3 Homo sapiens Q8IVP1 32814053
Intra
ATXN3 P54252 SH3GL3 Homo sapiens Q8IVP1 32814053
Intra
ATXN3 P54252 SH3GL3 Homo sapiens Q8IVP1 32814053
Intra
ATXN3 P54252 MYLIP Homo sapiens Q8WY64 32814053
Intra
ATXN3 P54252 MYLIP Homo sapiens Q8WY64 32814053
Intra
ATXN3 P54252 MYLIP Homo sapiens Q8WY64 32814053
Intra
ATXN3 P54252 USP13 Homo sapiens Q92995 32814053
Intra
ATXN3 P54252 USP13 Homo sapiens Q92995 32814053
Intra
ATXN3 P54252 USP13 Homo sapiens Q92995 32814053
Intra
ATXN3 P54252 KLHL20 Homo sapiens Q9Y2M5 32814053
Intra
ATXN3 P54252 KLHL20 Homo sapiens Q9Y2M5 32814053
Intra
ATXN3 P54252 KLHL20 Homo sapiens Q9Y2M5 32814053
Intra
ATXN3 P54252 GORASP2 Homo sapiens Q9H8Y8 32814053
Intra
ATXN3 P54252 GORASP2 Homo sapiens Q9H8Y8 32814053
Intra
ATXN3 P54252 GORASP2 Homo sapiens Q9H8Y8 32814053
Intra
ATXN3 P54252 EWSR1 Homo sapiens Q01844 32814053
Intra
ATXN3 P54252 EWSR1 Homo sapiens Q01844 32814053
Intra
ATXN3 P54252 EWSR1 Homo sapiens Q01844 32814053
Intra
ATXN3 P54252 RBPMS Homo sapiens Q93062-3 32814053
Intra
ATXN3 P54252 RBPMS Homo sapiens Q93062-3 32814053
Intra
ATXN3 P54252 RBPMS Homo sapiens Q93062-3 32814053
Intra
ATXN3 P54252 UBQLN1 Homo sapiens Q9UMX0 32814053
Intra
ATXN3 P54252 UBQLN1 Homo sapiens Q9UMX0 32814053
Intra
ATXN3 P54252 UBQLN1 Homo sapiens Q9UMX0 32814053
Intra
ATXN3 P54252 WWP1 Homo sapiens Q9H0M0 32814053
Intra
ATXN3 P54252 WWP1 Homo sapiens Q9H0M0 32814053
Intra
ATXN3 P54252 WWP1 Homo sapiens Q9H0M0 32814053
Intra
ATXN3 P54252 OTUB2 Homo sapiens Q96DC9 32814053
Intra
ATXN3 P54252 OTUB2 Homo sapiens Q96DC9 32814053
Intra
ATXN3 P54252 OTUB2 Homo sapiens Q96DC9 32814053
Intra
ATXN3 P54252 RAD23A Homo sapiens P54725 32814053
Intra
ATXN3 P54252 RAD23A Homo sapiens P54725 32814053
Intra
ATXN3 P54252 RAD23A Homo sapiens P54725 16713569
Intra
ATXN3 P54252 RAD23A Homo sapiens P54725 32814053
Intra
ATXN3 P54252 PARVA Homo sapiens Q9NVD7 32814053
Intra
ATXN3 P54252 PARVA Homo sapiens Q9NVD7 32814053
Intra
ATXN3 P54252 PARVA Homo sapiens Q9NVD7 32814053
Intra
ATXN3 P54252 H3C1 Homo sapiens P68431 32814053
Intra
ATXN3 P54252 H3C1 Homo sapiens P68431 32814053
Intra
ATXN3 P54252 H3C1 Homo sapiens P68431 32814053
Intra
ATXN3 P54252 STK36 Homo sapiens Q9NRP7 32814053
Intra
ATXN3 P54252 STK36 Homo sapiens Q9NRP7 32814053
Intra
ATXN3 P54252 STK36 Homo sapiens Q9NRP7 32814053
Intra
ATXN3 P54252 ASIC4 Homo sapiens Q96FT7-4 32814053
Intra
ATXN3 P54252 ASIC4 Homo sapiens Q96FT7-4 32814053
Intra
ATXN3 P54252 ASIC4 Homo sapiens Q96FT7-4 32814053
Intra
ATXN3 P54252 PHAF1 Homo sapiens Q9BSU1 32814053
Intra
ATXN3 P54252 PHAF1 Homo sapiens Q9BSU1 32814053
Intra
ATXN3 P54252 PHAF1 Homo sapiens Q9BSU1 16713569
Intra
ATXN3 P54252 PHAF1 Homo sapiens Q9BSU1 32814053
Intra
ATXN3 P54252 RNF31 Homo sapiens Q96EP0 32814053
Intra
ATXN3 P54252 RNF31 Homo sapiens Q96EP0 32814053
Intra
ATXN3 P54252 RNF31 Homo sapiens Q96EP0 32814053
Intra
ATXN3 P54252 ARHGAP19 Homo sapiens Q14CB8 32814053
Intra
ATXN3 P54252 ARHGAP19 Homo sapiens Q14CB8 32814053
Intra
ATXN3 P54252 ARHGAP19 Homo sapiens Q14CB8 32814053
Intra
ATXN3 P54252 ARHGAP19 Homo sapiens Q14CB8 16713569
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ATXN3 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P79456 Ataxin-3 Protein, Human (His) P54252-2 (M1-K361) ≥ 95%, as determined by reducing SDS-PAGE.

ATXN3 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P81549 Ataxin 3 Antibody (YA1294) IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Machado-Joseph Disease
  • SCA3

  • MJD

  • Spinocerebellar Ataxia 3

  • Azorean Disease

  • Spinocerebellar Ataxia Type 3

  • Spinocerebellar Atrophy

  • Azorean Neurologic Disease

  • Spinopontine Atrophy

  • Nigrospinodentatal Degeneration

  • Spinocerebellar Atrophy Iii

  • Spinocerebellar Atrophy Type 3

  • Azorean Ataxia

  • Azorean Disease Of The Nervous System

  • Machado Disease

  • Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

  • Disease, Machado-Joseph

  • Ataxia, Spinocerebellar

Machado-Joseph Disease Type 1
  • Sca3, Joseph Type

  • Spinocerebellar Ataxia Type 3, Joseph Type

Machado-Joseph Disease Type 3
  • Sca3, Machado Type

  • Spinocerebellar Ataxia Type 3, Machado Type

Machado-Joseph Disease Type 2
  • Sca3, Thomas Type

  • Spinocerebellar Ataxia, Thomas Type

Spinocerebellar Ataxia 2
  • Spinocerebellar Ataxia Type 2

  • SCA2

  • Amyotrophic Lateral Sclerosis 13

  • Spinocerebellar Degeneration With Slow Eye Movements

  • SDSEM

  • Spinocerebellar Atrophy Ii

  • Olivopontocerebellar Atrophy Ii

  • Opca2

  • Cerebellar Degeneration With Slow Eye Movements

  • Wadia-Swami Syndrome

  • Amyotrophic Lateral Sclerosis Type 13

  • ALS13

  • Olivopontocerebellar Atrophy Holguin Type

  • Spinocerebellar Ataxia Cuban Type

  • Olivopontocerebellar Atrophy, Holguin Type

  • Spinocerebellar Ataxia, Cuban Type

  • Amyotrophic Lateral Sclerosis, Susceptibility To, 13

  • Olivopontocerebellar Atrophy 2

  • Sca 2

  • Spinocerebellar Ataxia With Slow Eye Movements

  • Spinocerebellar Atrophy 2

  • Wadia Swami Syndrome

  • Opca Ii

  • Spinocerebellar Ataxia-2

  • Ataxia, Spinocerebellar, Type 2

Autosomal Dominant Cerebellar Ataxia
  • Spinocerebellar Ataxia

  • Adca

  • Pierre Marie Cerebellar Ataxia

  • Ataxia, Spinocerebellar

  • Sca

  • Autosomal Dominant Spinocerebellar Ataxia

  • Spinocerebellar Ataxias

Cerebellar Disease
  • Cerebellar Diseases

  • Cerebellar Dysfunction

  • Cerebellar Abnormality

  • Cerebellar Disorders

Parkinsonism
  • Parkinsonism-Plus

  • Idiopathic Parkinsonism

  • Primary Parkinsonism

  • Paralysis Agitans Syndrome

  • Parkinsonian Syndrome

  • Trembling Paralysis

  • Paralysis Agitans

  • Shaking Palsy

  • Shaking Paralysis

Hereditary Late-Onset Parkinson Disease
  • Autosomal Dominant Late-Onset Parkinson Disease

  • Lopd

  • Hereditary Late Onset Parkinson Disease

Spinocerebellar Ataxia 1
  • Spinocerebellar Ataxia Type 1

  • SCA1

  • Olivopontocerebellar Atrophy I

  • Opca1

  • Opca4

  • Menzel Type Opca

  • Schut-Haymaker Type Opca

  • Spinocerebellar Atrophy I

  • Opca I

  • Olivopontocerebellar Atrophy Iv

  • Opca Iv

  • Cerebelloparenchymal Disorder I

  • Cpd1

  • Olivopontocerebellar Atrophy 1

  • Cerebelloparenchymal Disorder 1

  • Olivopontocerebellar Atrophy 4

  • Spinocerebellar Atrophy 1

  • Type 1 Spinocerebellar Ataxia

  • Spinocerebellar Ataxia-1

  • Ataxia, Spinocerebellar, Type 1

Primary Cerebellar Degeneration
  • Spinocerebellar Degenerations

  • Cerebellar Degenerations, Primary

  • Spinocerebellar Degeneration

Dentatorubral-Pallidoluysian Atrophy
  • DRPLA

  • Naito-Oyanagi Disease

  • Haw River Syndrome

  • Myoclonic Epilepsy With Choreoathetosis

  • Nod

  • Ataxia, Chorea, Seizures, And Dementia

  • Dentatorubropallidoluysian Atrophy

  • Hrs

  • Naito Oyanagi Disease

  • Dentatorubral Pallidoluysian Atrophy

  • Dentatorubro-Pallidoluysian Atrophy

  • Myoclonic Epilepsies, Progressive

  • Atrophy, Pallidoluysian, Dentatorubral

Hereditary Ataxia
  • Sca

  • Spinocerebellar Ataxia

  • Ataxias Hereditary

  • Ataxias, Hereditary

Narcolepsy
  • Paroxysmal Sleep

  • Gelineau Syndrome

  • Narcoleptic Syndrome

  • Narcolepsy-Cataplexy Syndrome

  • Cataplexy And Narcolepsy

  • Narcolepsy, Without Cataplexy

  • Gelineau'S Syndrome

  • Narcolepsy With Or Without Cataplexy

  • Narcolepsy Nos

Spinocerebellar Ataxia 17
  • Spinocerebellar Ataxia Type 17

  • SCA17

  • Huntington Disease-Like 4

  • Hdl4

  • Olivopontocerebellar Atrophy V

  • Cerebelloparenchymal Disorder Ii

  • Opca5

  • Cpd2

  • Sca 17

  • Ataxia, Spinocerebellar, Type 17

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Spinocerebellar Ataxia 12
  • Spinocerebellar Ataxia Type 12

  • SCA12

  • Ataxia, Spinocerebellar, Type 12

Friedreich Ataxia
  • Friedreich Ataxia 1

  • FRDA

  • Friedreich Ataxia With Retained Reflexes

  • Frda1

  • Fa

  • Friedreich'S Ataxia

  • Hereditary Spinal Ataxia

  • Fa1

  • Friedreich'S Tabes

  • Hereditary Spinal Sclerosis

  • Spinocerebellar Ataxia, Friedreich

  • Friedreich Spinocerebellar Ataxia

  • Friedrich'S Ataxia

Dementia
  • Dementias

  • Presenile Dementia

  • Alzheimer Type Dementia

  • Alzheimer Sclerosis

  • Alzheimer Disease Dementia

  • Alzheimer Dementia

  • Primary Degenerative Alzheimer Type Dementia

  • End Stage Alzheimer'S Dementia

  • Alzheimer'S Type Atypical Dementia

  • Alzheimer Type Presenile Dementia

  • Early Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 2

  • Dementia In Alzheimer Disease With Early Onset

  • Early Onset Alzheimer Type Dementia, Uncomplicated

  • Primary Degenerative Alzheimer Type Dementia, Early Onset

  • Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

  • Alzheimer Disease Dementia With Early Onset

  • Presenile Sclerosis

  • Presenile Brain Sclerosis

  • Presenile Alzheimer Brain Sclerosis

  • Late Onset Alzheimer Dementia

  • Dementia In Alzheimer Disease Type 1

  • Dementia In Alzheimer Disease With Late Onset

  • Primary Degenerative Alzheimer Type Dementia, Late Onset

  • Sdat - [Senile Dementia, Alzheimer Type]

  • Alzheimer Disease Dementia With Late Onset

  • Late Onset Alzheimer Brain Sclerosis

  • Senile Alzheimer Brain Disease

  • Senile Alzheimer Brain Sclerosis

  • Senile Primary Degenerative Alzheimer Type Dementia

  • Senile Dementia Of The Alzheimer Type

  • Arteriosclerotic Dementia

  • Strategic-Infarct Dementia

  • Post Stroke Dementia

  • Vascular Cognitive Impairment

  • Vascular Dementia

  • Dementia Of The Lewy Body Type

  • Dementia With Lewy Bodies

  • Sdlt - [Senile Dementia Of The Lewy Body Type]

  • Senile Dementia Of The Lewy Body Type

  • Alcohol-Related Dementia

  • Alcoholic Dementia Nos

  • Alcohol-Induced Dementia

  • Alcoholic Brain Syndrome

  • Chronic Alcoholic Brain Syndrome

  • Alcohol Dementia

  • Late Onset Alcoholic Psychosis

  • Residual And Late-Onset Alcohol-Induced Psychotic Disorder

  • Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

  • Late-Onset Psychoactive Substance-Induced Psychotic Disorder

  • Inhalant Dementia

  • Volatile Solvents Dementia

  • Dementia In Paralysis Agitans

  • Pdd - [Parkinson Disease Dementia]

  • Dementia Syndrome Of Parkinson Disease

  • Dementia In Parkinson Disease

  • Parkinson Related Dementia

  • Dementia In Huntington Chorea

  • Hiv - [Human Immunodeficiency Virus] Dementia

  • Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

  • Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

  • Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

  • Aids Related Dementia

  • Dementia Due To Niacin Deficiency

Spinal And Bulbar Muscular Atrophy, X-Linked 1
  • Kennedy Disease

  • Sbma

  • Spinal And Bulbar Muscular Atrophy

  • Kennedy'S Disease

  • X-Linked Spinal And Bulbar Muscular Atrophy

  • SMAX1

  • Kd

  • Kennedy Spinal And Bulbar Muscular Atrophy

  • Spinobulbar Muscular Atrophy

  • Bulbospinal Muscular Atrophy, X-Linked

  • Bulbospinal Neuronopathy, X-Linked Recessive

  • Xbsn

  • Spinal And Bulbar Muscular Atrophy Of Kennedy

  • Bulbospinal Muscular Atrophy

  • X-Linked Bulbospinal Amyotrophy

  • Bulbo-Spinal Atrophy, X-Linked

  • Spinal Bulbar Muscular Atrophy

  • X-Linked Bulbo-Spinal Atrophy

  • X-Linked Spinal Bulbar Muscular Atrophy

  • X-Linked Bsma

  • X-Linked Bulbospinal Muscular Atrophy

  • Spinal And Bulbar Muscular Atrophy X-Linked 1

  • Bulbospinal Muscular Atrophy X-Linked

  • Bulbospinal Neuronopathy X-Linked Recessive

  • Kennedy Disease)

  • Kennedy Syndrome

  • Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

  • Atrophy, Muscular, Spinobulbar

  • Bulbospinal Neuronopathy

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

Restless Legs Syndrome
  • Wed

  • Willis-Ekbom Disease

  • Restless Leg Syndrome

  • Ekbom Syndrome

  • Wittmaack-Ekbom Syndrome

  • Willis Ekbom Disease

  • Ekbom'S Syndrome

  • Rls

  • Restless Legs

  • Restless Legs Syndrome, Susceptibility To

Muscular Atrophy
  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy

Spinocerebellar Ataxia 7
  • Spinocerebellar Ataxia Type 7

  • SCA7

  • Opca3

  • Opca Iii

  • Olivopontocerebellar Atrophy Iii

  • Opca With Retinal Degeneration

  • Opca With Macular Degeneration And External Ophthalmoplegia

  • Adca, Type Ii

  • Autosomal Dominant Cerebellar Ataxia Type 2

  • Olivopontocerebellar Atrophy 3

  • Autosomal Dominant Cerebellar Ataxia, Type Ii

  • Autosomal Dominant Cerebellar Ataxia Type Ii

  • Adca2

  • Adcaii

  • Ataxia With Pigmentary Retinopathy

  • Cerebellar Syndrome-Pigmentary Maculopathy Syndrome

  • Olivopontocerebellar Atrophy With Retinal Degeneration

  • Spinocerebellar Ataxia-7

  • Ataxia, Spinocerebellar, Type 7

Cerebellar Ataxia Type 48
  • Sca48

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
  • Ibmpfd

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

  • Pagetoid Amyotrophic Lateral Sclerosis

  • Pagetoid Neuroskeletal Syndrome

  • Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

  • Multisystem Proteinopathy

  • Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

  • Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

  • Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

  • Lower Motor Neuron Degeneration With Paget-Like Bone Disease

  • Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

  • Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Spinocerebellar Ataxia 10
  • Spinocerebellar Ataxia Type 10

  • SCA10

  • Spinocerebellar Ataxia-10

  • Ataxia, Spinocerebellar, Type 10

Huntington Disease-Like 2
  • HDL2

  • Huntington'S Disease-Like 2

  • Huntington Disease-Like, Type 2

Gordon Holmes Syndrome
  • Cerebellar Ataxia And Hypogonadotropic Hypogonadism

  • Lhrh Deficiency And Ataxia

  • Cerebellar Ataxia-Hypogonadism Syndrome

  • GDHS

  • Cahh

  • Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia

  • Gordon-Holmes Syndrome

  • Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia

  • Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia

  • Cerebellar Ataxia - Hypogonadism

  • Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia

  • Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
  • MRXSBL

  • Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance

  • X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance

  • Mental Retardation, X-Linked 60, Formerly

  • Mrx60, Formerly

  • Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type

  • Mrx60

  • Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance

Spinocerebellar Ataxia 6
  • Spinocerebellar Ataxia Type 6

  • SCA6

  • Type 6 Spinocerebellar Ataxia

  • Spinocerebellar Ataxia-6

  • Ataxia, Spinocerebellar, Type 6

Ocular Motility Disease
  • Ocular Motility Disorders

  • Abnormality Of Eye Movement

  • Disorder Of Eye Movements

  • Eye Movement Disorder

  • Eye Movement Disorders

Spinocerebellar Ataxia 8
  • Spinocerebellar Ataxia Type 8

  • SCA8

  • Ataxia, Spinocerebellar, Type 8

Choreatic Disease
  • Chorea

  • Hereditary Chorea

Spinal Muscular Atrophy
  • Sma

  • 5q Sma

  • Proximal Sma

  • Sma-Associated Sma

  • Spinal Amyotrophies

  • Spinal Amyotrophy

  • Spinal Muscle Degeneration

  • Spinal Muscle Wasting

  • Muscular Atrophy Spinal

  • Atrophy, Muscular, Spinal

  • Hereditary Motor Neuronopathy

  • Progressive Muscular Atrophy

  • Sma - [Spinal Muscular Atrophy]

Myotonic Dystrophy 1
  • Myotonic Dystrophy

  • Dystrophia Myotonica

  • Steinert Disease

  • Myotonic Dystrophy Type 1

  • Myotonia Atrophica

  • DM1

  • Congenital Myotonic Dystrophy

  • Myotonia Dystrophica

  • Steinert Myotonic Dystrophy

  • Dystrophia Myotonica 1

  • Dm

  • Steinert'S Disease

  • Steinert Myotonic Dystrophy Syndrome

  • Myotonic Dystrophy Of Steinert

  • Dystrophia Myotonica Type 1

  • Myotonic Dystrophy Congenital

  • Dystrophy, Myotonic, Type 1

  • Dm - [Dystrophia Myotonica]

  • Myotonic Muscular Dystrophy

Movement Disease
  • Movement Disorders

  • Movement Disorder

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus ATXN3 VGNC VGNC:57156
Mus musculus ATXN3 MGD MGI:1099442
Rattus norvegicus ATXN3 RGD RGD:621567
Others ATXN3 NCBI