Reactome | ATXN3 [nucleoplasm]

ATXN3 [nucleoplasm]

Stable Identifier

R-HSA-6783285

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

nucleoplasm

Synonyms

Ataxin-3, ATX3_HUMAN

Locations in the PathwayBrowser for interactor UniProt:Q3SYB3 FX4L6

Expand all

Gene expression (Transcription) (Homo sapiens)

- RNA Polymerase II Transcription (Homo sapiens)
  - Generic Transcription Pathway (Homo sapiens)
    - FOXO-mediated transcription (Homo sapiens)
      - FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes (Homo sapiens)
        
        FOXO4 binds ATXN3 (Homo sapiens)
        
        ATXN3 [nucleoplasm] (Homo sapiens)

External Reference Information

External Reference

UniProt:P54252 ATXN3

Gene Names

ATXN3, ATX3, MJD, MJD1, SCA3

Chain

chain:1-361

Reference Genes

BioGPS Gene:4287 ATXN3

COSMIC (genes):ATXN3 ATXN3

CTD Gene:4287 ATXN3

dbSNP Gene:4287 ATXN3

ENSEMBL:ENSG00000066427 ATXN3

ENSEMBL_homo_sapiens_GENE:ENSG00000066427.25 ATXN3

HGNC:7106 ATXN3

KEGG Gene (Homo sapiens):4287 ATXN3

Monarch:4287 ATXN3

NCBI Gene:4287 ATXN3

OMIM:607047 ATXN3

UCSC:P54252 ATXN3

Reference Transcript

Other Identifiers

11726361_a_at

11726362_a_at

11726363_x_at

16796020

205415_PM_s_at

205415_s_at

205416_PM_s_at

205416_s_at

235240_PM_at

235240_at

238723_PM_at

238723_at

3576888

3576890

3576891

3576892

3576893

3576894

3576895

3576896

3576897

3576898

3576899

3576903

3576904

3576909

3576910

3576911

3576912

3576914

3576915

3576920

3576923

3576926

3576928

3576929

3576933

36819_at

4287

56787_at

7980940

82526_at

A_23_P129031

A_24_P13595

A_33_P3275310

A_33_P3320762

GE59310

GO:0000226

GO:0003824

GO:0004843

GO:0005515

GO:0005634

GO:0005654

GO:0005730

GO:0005737

GO:0005739

GO:0005759

GO:0005764

GO:0005765

GO:0005773

GO:0005783

GO:0005789

GO:0005829

GO:0005886

GO:0006281

GO:0006289

GO:0006508

GO:0006511

GO:0006515

GO:0007010

GO:0007155

GO:0007268

GO:0007399

GO:0008233

GO:0008234

GO:0010810

GO:0016020

GO:0016363

GO:0016579

GO:0016787

GO:0023052

GO:0030036

GO:0030163

GO:0031625

GO:0031966

GO:0034198

GO:0034605

GO:0035520

GO:0035640

GO:0036211

GO:0042405

GO:0042802

GO:0043161

GO:0043226

GO:0045104

GO:0045202

GO:0048856

GO:0051117

GO:0061578

GO:0070536

GO:0071108

GO:0071218

GO:0140096

GO:1904262

GO:1904294

GO:1904327

GO:1990380

GO:2000060

HMNXSV003021826

Hs.142043.0.A1_3p_at

Hs.46648.0.A1_3p_at

Hs.66521.0.S1_3p_a_at

ILMN_1725696

ILMN_2393497

PH_hs_0025115

TC14002125.hg

g13518018_3p_a_at

Participates

as a component of

as an input of

Other forms of this molecule

ATXN3 [cytosol]

Inferred To

atx-3 [nucleoplasm] (Caenorhabditis elegans)

Atxn3 [nucleoplasm] (Mus musculus)

Atxn3 [nucleoplasm] (Rattus norvegicus)

ATXN3 [nucleoplasm] (Bos taurus)

ATXN3 [nucleoplasm] (Canis familiaris)

ATXN3 [nucleoplasm] (Gallus gallus)

ATXN3 [nucleoplasm] (Plasmodium falciparum)

ATXN3 [nucleoplasm] (Sus scrofa)

Cross References

RefSeq

NP_001121168.1, NP_004984.2, NP_109376.1, NP_001158252.1

OpenTargets

ENSG00000066427

GeneCards

P54252

HPA

ENSG00000066427-ATXN3

Ensembl

ENSP00000339110, ENST00000644486, ENST00000340660, ENSP00000496695, ENSG00000066427, ENST00000503767, ENST00000532032, ENSP00000425322, ENST00000502250, ENSP00000426697, ENSP00000437157

PRO

P54252

Pharos - Targets

P54252

Orphanet

15339

PDB

4YS9, 2AGA, 1YZB, 2JRI, 2DOS, 2KLZ, 4WTH

Interactors (106)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P55072 VCP	8	Me3K315-VCP [cytosol] (R-HSA-8932209) VCP [endoplasmic reticulum membrane] (R-HSA-8943105) VCP [nucleoplasm] (R-HSA-5643745) VCP [secretory granule lumen] (R-HSA-6801039) VCP [ficolin-1-rich granule lumen] (R-HSA-6800425) VCP [extracellular region] (R-HSA-6806191) VCP [azurophil granule lumen] (R-HSA-6800438) VCP [cytosol] (R-HSA-1181251)	0.675	4
UniProt:Q01844 EWS			0.666	4
UniProt:Q9BSU1 PHAF1			0.666	4
UniProt:Q14CB8 ARHGAP19	1	ARHGAP19 [cytosol] (R-HSA-200767)	0.666	4
UniProt:P54725 RAD23A	1	RAD23A [nucleoplasm] (R-HSA-5688076)	0.666	9
UniProt:Q8IUI8 CRLF3			0.556	3
UniProt:Q9UHY8 FEZ2			0.556	6
UniProt:P50570-2 DNM2			0.556	3
UniProt:Q8TBK5 Q8TBK5			0.556	9
UniProt:O75330-3 HMMR			0.556	3
UniProt:Q8TB36 GDAP1	2	GDAP1 [peroxisomal membrane] (R-HSA-9603788) GDAP1 [cytosol] (R-HSA-9603796)	0.556	3
UniProt:Q8N895 ZN366			0.556	3
UniProt:P29466-3 CASP1			0.556	9
UniProt:Q9P1A6-3 DLGAP2			0.556	3
UniProt:Q96DC9-2 Q96DC92			0.556	9
UniProt:Q3B7T1 EDRF1			0.556	3
UniProt:Q9H4I2-2 ZHX3			0.556	3
UniProt:Q9Y483-4 MTF2			0.556	3
UniProt:Q8IYF3-3 TEX11			0.556	6
UniProt:Q9H8Y8 GORASP2	2	GORASP2 [Golgi membrane] (R-HSA-2422385) p-T222,T225-GORASP2 [Golgi membrane] (R-HSA-2422965)	0.556	3
UniProt:Q9H8H3 TMT1A	2	METTL7A [extracellular region] (R-HSA-6800468) METTL7A [tertiary granule lumen] (R-HSA-6800170)	0.556	3
UniProt:Q6UY14-3 ADAMTSL4			0.556	3
UniProt:Q9Y458 TBX22			0.556	3
UniProt:Q9HBE1-4 PATZ1			0.556	3
UniProt:Q96EP0 RNF31	1	RNF31 [cytosol] (R-HSA-5212660)	0.556	3
UniProt:Q96G97-4 BSCL2			0.556	3
UniProt:Q6PCB6 ABHD17C	1	ABHD17C [plasma membrane] (R-HSA-9647774)	0.556	3
UniProt:Q9H7C9 AAMDC			0.556	3
UniProt:Q8N5Z7 Q8N5Z7			0.556	6
UniProt:Q9NS23-4 RASSF1			0.556	3
UniProt:Q6ZNA4-2 Q6ZNA42			0.556	6
UniProt:Q8NEZ2 VPS37A	1	VPS37A [endosome membrane] (R-HSA-184333)	0.556	3
UniProt:Q9NQ40 SLC52A3	1	SLC52A3 [plasma membrane] (R-HSA-3165247)	0.556	3
UniProt:Q8NBT0 POC1A			0.556	3
UniProt:Q8TDW5-2 SYTL5			0.556	3
UniProt:Q16740 CLPP	1	CLPP [mitochondrial matrix] (R-HSA-9838002)	0.556	3
UniProt:P37173 TGFBR2	9	TGFBR2 Y470D [plasma membrane] (R-HSA-3640905) TGFBR2 E526Q [plasma membrane] (R-HSA-3645770) TGFBR2 D522N [plasma membrane] (R-HSA-3640907) TGFBR2 R528H [plasma membrane] (R-HSA-3640894) TGFBR2 R528C [plasma membrane] (R-HSA-3640899) TGFBR2 K128Afs3 [cytosol] (R-HSA-3642173) TGFBR2 K128Sfs35 [cytosol] (R-HSA-3642166) NEDD8-K556,K567-TGFBR2 [plasma membrane] (R-HSA-4332222) TGFBR2 [plasma membrane] (R-HSA-170842)	0.556	3
UniProt:P40227 CCT6A	1	CCT6A [cytosol] (R-HSA-390454)	0.556	3
UniProt:Q96DC9 OTUB2	2	OTUB2 [cytosol] (R-HSA-933410) OTUB2 [nucleoplasm] (R-HSA-6783260)	0.556	9
UniProt:O95551 TDP2	1	TDP2 [nucleoplasm] (R-HSA-5687253)	0.556	3
UniProt:Q9NRP7 STK36			0.556	3
UniProt:O43488 AKR7A2	1	AKR7A2 [cytosol] (R-HSA-5423681)	0.556	3
UniProt:P06241-3 FYN			0.556	3
UniProt:Q99932-2 SPAG8			0.556	6
UniProt:Q13064 MKRN3			0.556	3
UniProt:P42574 CASP3	5	CASP3(1-277) [cytosol] (R-HSA-57021) CASP3(29-175) [nucleoplasm] (R-HSA-211194) CASP3(176-277) [nucleoplasm] (R-HSA-211203) CASP3(29-175) [cytosol] (R-HSA-141644) CASP3(176-277) [cytosol] (R-HSA-141646)	0.556	9
UniProt:O94851 MICA2			0.556	3
UniProt:Q9Y2M5 KLHL20	1	KLHL20 [cytosol] (R-HSA-976032)	0.556	3
UniProt:A4FUJ8 A4FUJ8			0.556	3
UniProt:Q8NA77 TEX19			0.556	3
IntAct:EBI-25958427 CCSB			0.556	9
UniProt:Q3SYB3 FX4L6			0.556	3
IntAct:EBI-25974350 CCSB			0.556	3
UniProt:Q15554-4 Q155544			0.556	3
UniProt:Q9UDY8-2 MALT1			0.556	3
IntAct:EBI-25866689 CCSB			0.556	3
UniProt:Q8IVP1 Q8IVP1			0.556	3
UniProt:Q9UMX0 UBQLN1	1	UBQLN1 [cytosol] (R-HSA-8866006)	0.556	6
UniProt:Q02930-3 CREB5			0.556	3
UniProt:Q01844-3 EWSR1			0.556	9
UniProt:P68431 HIST1H3G	20	2xAcK-HIST1H3A [nucleoplasm] (R-HSA-427507) Me1K5-H3C1 [nucleoplasm] (R-HSA-9677683) Ack-Me3K5-HIST1H3A [nucleoplasm] (R-HSA-4551293) AcK-Me3K10-HIST1H3A [nucleoplasm] (R-HSA-4551291) AcK-Me3K28-HIST1H3A [nucleoplasm] (R-HSA-4551292) Me2aR27-HIST1H3A [nucleoplasm] (R-HSA-5229052) Me2aR18-HIST1H3A [nucleoplasm] (R-HSA-5229062) Me2sR9-HIST1H3A [nucleoplasm] (R-HSA-5211328) Me2sR3-HIST1H3A [nucleoplasm] (R-HSA-5218935) AcK9,14-p-S10-HIST1H3A [nucleoplasm] (R-HSA-8870893) AcK14,18,79-p-S10-HIST1H3A [nucleoplasm] (R-HSA-8871271) AcK9,14,18-p-S10,T11-HIST1H3A [nucleoplasm] (R-HSA-8871306) AcK14,18-p-S10,T11-HIST1H3A [nucleoplasm] (R-HSA-8871294) AcK9,14,18,79-p-S10,T11-HIST1H3A [nucleoplasm] (R-HSA-8865596) AcK14,18-p-S10-HIST1H3A [nucleoplasm] (R-HSA-8871295) AcK14,18,79-p-T11-HIST1H3A [nucleoplasm] (R-HSA-8871288) AcK14,18-p-T11-HIST1H3A [nucleoplasm] (R-HSA-8871299) AcK14,18,79-p-S10,T11-HIST1H3A [nucleoplasm] (R-HSA-8871286) Me2K28-HIST1H3A [nucleoplasm] (R-HSA-4754193) MeK37-HIST1H3A [nucleoplasm] (R-HSA-4722135)	0.556	3
UniProt:Q6UWD8 CP054			0.556	3
UniProt:Q9Y4R8 TELO2			0.556	3
UniProt:Q01844-4 EWSR1			0.556	3
UniProt:Q96FT7-4 ASIC4			0.556	3
UniProt:O95416 SOX14			0.556	3
UniProt:Q9UPM6 LHX6			0.556	3
UniProt:Q8IUW3 SPA2L			0.556	3
UniProt:Q66K80 RUAS1			0.556	3
UniProt:Q8N865 SMIP4			0.556	3
UniProt:Q96LX7-5 CCDC17			0.556	3
UniProt:O15530-4 PDPK1			0.556	3
UniProt:Q9NP61 ARFGAP3	1	ARFGAP3 [cytosol] (R-HSA-6807740)	0.556	3
IntAct:EBI-25973200 CCSB			0.556	3
UniProt:O15287 FANCG	2	FANCG [nucleoplasm] (R-HSA-419532) FANCG [cytosol] (R-HSA-420788)	0.556	3
IntAct:EBI-25831191 CCSB			0.556	3
UniProt:Q9Y575-3 ASB3			0.556	3
UniProt:Q03405-2 PLAUR			0.556	3
UniProt:Q15007-2 WTAP			0.556	3
UniProt:Q9BWI9 Q9BWI9			0.556	6
UniProt:P13051-2 UNG			0.556	3
UniProt:Q8NFH3 NUP43	2	NUP43 [nuclear envelope] (R-HSA-157739) NUP43 [cytosol] (R-HSA-376243)	0.556	3
UniProt:Q5VV42 CDKAL1	1	CDKAL1 [endoplasmic reticulum membrane] (R-HSA-6786612)	0.556	3
UniProt:P06276 BCHE	2	BCHE [extracellular region] (R-HSA-434469) BCHE [plasma membrane] (R-HSA-3640835)	0.556	3
UniProt:Q9H816 DCLRE1B	1	DCLRE1B [nucleoplasm] (R-HSA-6785735)	0.556	3
UniProt:O75409 HYPM			0.556	3
UniProt:Q15466 NR0B2	1	NR0B2 [nucleoplasm] (R-HSA-376312)	0.556	3
UniProt:P23142-4 FBLN1			0.556	3
UniProt:Q93062-3 RBPMS			0.556	3
UniProt:Q969S8 HDAC10	1	HDAC10 [nucleoplasm] (R-HSA-351579)	0.556	3
UniProt:P50454 SERPINH1	1	SERPINH1 [endoplasmic reticulum lumen] (R-HSA-2127480)	0.556	3
UniProt:Q8WY64 MYLIP	1	MYLIP [cytosol] (R-HSA-8850908)	0.556	3
UniProt:O75925 PIAS1	1	PIAS1 [nucleoplasm] (R-HSA-877307)	0.556	9
UniProt:P51665 PSMD7	5	PSMD7 [secretory granule lumen] (R-HSA-6801008) PSMD7 [extracellular region] (R-HSA-6806488) PSMD7 [ficolin-1-rich granule lumen] (R-HSA-6800406) PSMD7 [nucleoplasm] (R-HSA-174309) PSMD7 [cytosol] (R-HSA-68806)	0.556	9
UniProt:Q9H0M0 WWP1	1	WWP1 [cytosol] (R-HSA-976037)	0.556	3
UniProt:P22692 IGFBP4	5	IGFBP4 [extracellular region] (R-HSA-381421) IGFBP4(157-237) [extracellular region] (R-HSA-381510) IGFBP4(22-156) [extracellular region] (R-HSA-381516) IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8956754) p-IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8957038)	0.556	3
UniProt:P42336 PIK3CA	20	PIK3CA H1047L [cytosol] (R-HSA-1500714) PIK3CA H1047R [cytosol] (R-HSA-1500716) PIK3CA M1043I [cytosol] (R-HSA-1500719) PIK3CA M1043T [cytosol] (R-HSA-2395934) PIK3CA M1043V [cytosol] (R-HSA-2395932) PIK3CA H1047Y [cytosol] (R-HSA-1500720) PIK3CA E542K [cytosol] (R-HSA-1500701) PIK3CA Q546K [cytosol] (R-HSA-1500705) PIK3CA E545A [cytosol] (R-HSA-2362355) PIK3CA E545K [cytosol] (R-HSA-1500706) PIK3CA E545Q [cytosol] (R-HSA-2362362) PIK3CA Q546E [cytosol] (R-HSA-2362383) PIK3CA E545V [cytosol] (R-HSA-2362365) PIK3CA E542V [cytosol] (R-HSA-2328074) PIK3CA Q546L [cytosol] (R-HSA-2362375) PIK3CA E545G [cytosol] (R-HSA-1500709) PIK3CA Q546H [cytosol] (R-HSA-2362374) PIK3CA Q546R [cytosol] (R-HSA-2362373) PIK3CA Q546P [cytosol] (R-HSA-1500695) PIK3CA E542Q [cytosol] (R-HSA-2328003)	0.556	3
UniProt:Q9BXR5 TLR10	1	TLR10 [plasma membrane] (R-HSA-167926)	0.556	3
UniProt:P17612 PRKACA	4	PRKACA [mitochondrial matrix] (R-HSA-9838291) PRKACA [ciliary base] (R-HSA-5610402) PRKACA [nucleoplasm] (R-HSA-111936) PRKACA [cytosol] (R-HSA-57844)	0.556	3
UniProt:Q92995 USP13	2	USP13 [nucleoplasm] (R-HSA-6781924) USP13 [cytosol] (R-HSA-6781893)	0.556	3
UniProt:Q9NVD7 PARVA	1	PARVA [cytosol] (R-HSA-432848)	0.556	9
UniProt:Q96NC0 ZMAT2	1	ZMAT2 [nucleoplasm] (R-HSA-9770248)	0.556	3
UniProt:Q8N3R9 MPP5	2	MPP5 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9689606) MPP5 [plasma membrane] (R-HSA-419969)	0.556	3
UniProt:P16581 SELE	1	SELE [plasma membrane] (R-HSA-2870223)	0.556	3
UniProt:Q9BYZ2 LDHAL6B	1	LDHAL6B [mitochondrial matrix] (R-HSA-6807613)	0.556	3
UniProt:Q16891 IMMT	1	IMMT (MIC60) [mitochondrial inner membrane] (R-HSA-8949569)	0.463	4

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