Protein: P54253

UniprotKB AC UniprotKB ID Gene name Full name Species Curated set
P54253 (Uniprot) ATX1_HUMAN ATXN1 Ataxin-1 human No
Uniprot: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism (PubMed:21475249). In concert with CIC and ATXN1L, involved in brain development (By similarity). more..
MoonDB Dissimilar Functions
GO ID 1 Function 1 Module ID 1 GO ID 2 Function 2 Module ID 2 Association Probability (PrOnto) Interaction Probability (PrOnto)
GO:0036211 protein modification process 120 GO:0006396 RNA processing 426 5.60e-03 3.14e-16
GO:0006464 cellular protein modification process 375 GO:0006396 RNA processing 426 5.60e-03 3.14e-16
GO:0006396 RNA processing 426 GO:0048869 cellular developmental process 590 2.41e-03 1.32e-38
Biological Processes
Module ID (MoonGO) GO ID (BP) GO Name
7 GO:0031324 negative regulation of cellular metabolic process
7 GO:0010605 negative regulation of macromolecule metabolic process
7 GO:0051172 negative regulation of nitrogen compound metabolic process
7 GO:0010604 positive regulation of macromolecule metabolic process
7 GO:0006357 regulation of transcription from RNA polymerase II promoter
17 GO:0006355 regulation of transcription, DNA-templated
38 GO:0007165 signal transduction
44 GO:0010467 gene expression
44 GO:0031324 negative regulation of cellular metabolic process
44 GO:0009889 regulation of biosynthetic process
44 GO:0060255 regulation of macromolecule metabolic process
49 GO:0006464 cellular protein modification process
49 GO:0031324 negative regulation of cellular metabolic process
49 GO:0010629 negative regulation of gene expression
49 GO:0051172 negative regulation of nitrogen compound metabolic process
49 GO:0006357 regulation of transcription from RNA polymerase II promoter
49 GO:0007165 signal transduction
64 GO:0016070 RNA metabolic process
64 GO:0010467 gene expression
64 GO:0060255 regulation of macromolecule metabolic process
94 GO:0006464 cellular protein modification process
94 GO:0060255 regulation of macromolecule metabolic process
120 GO:0006464 cellular protein modification process
120 GO:0070887 cellular response to chemical stimulus
120 GO:0031324 negative regulation of cellular metabolic process
120 GO:0010605 negative regulation of macromolecule metabolic process
120 GO:0051172 negative regulation of nitrogen compound metabolic process
120 GO:0031325 positive regulation of cellular metabolic process
120 GO:0010604 positive regulation of macromolecule metabolic process
120 GO:0051173 positive regulation of nitrogen compound metabolic process
120 GO:0006355 regulation of transcription, DNA-templated
120 GO:0007165 signal transduction
192 GO:0034645 cellular macromolecule biosynthetic process
192 GO:0006464 cellular protein modification process
192 GO:0010467 gene expression
192 GO:0090304 nucleic acid metabolic process
192 GO:0009893 positive regulation of metabolic process
192 GO:0060255 regulation of macromolecule metabolic process
192 GO:0007165 signal transduction
197 GO:0044267 cellular protein metabolic process
197 GO:0060255 regulation of macromolecule metabolic process
238 GO:0060255 regulation of macromolecule metabolic process
286 GO:0034645 cellular macromolecule biosynthetic process
286 GO:0090304 nucleic acid metabolic process
286 GO:0034654 nucleobase-containing compound biosynthetic process
286 GO:0010468 regulation of gene expression
327 GO:0044271 cellular nitrogen compound biosynthetic process
327 GO:0044267 cellular protein metabolic process
327 GO:0006139 nucleobase-containing compound metabolic process
327 GO:0031325 positive regulation of cellular metabolic process
327 GO:0031326 regulation of cellular biosynthetic process
327 GO:0010468 regulation of gene expression
327 GO:0007165 signal transduction
357 GO:0071310 cellular response to organic substance
357 GO:0031324 negative regulation of cellular metabolic process
357 GO:0010605 negative regulation of macromolecule metabolic process
357 GO:0051172 negative regulation of nitrogen compound metabolic process
357 GO:0031325 positive regulation of cellular metabolic process
357 GO:0010604 positive regulation of macromolecule metabolic process
357 GO:0051173 positive regulation of nitrogen compound metabolic process
357 GO:0009966 regulation of signal transduction
357 GO:0006357 regulation of transcription from RNA polymerase II promoter
375 GO:0070647 protein modification by small protein conjugation or removal
375 GO:0060255 regulation of macromolecule metabolic process
380 GO:0010467 gene expression
380 GO:0019538 protein metabolic process
380 GO:0060255 regulation of macromolecule metabolic process
387 GO:0019538 protein metabolic process
387 GO:0060255 regulation of macromolecule metabolic process
387 GO:0007165 signal transduction
391 GO:0034645 cellular macromolecule biosynthetic process
391 GO:0090304 nucleic acid metabolic process
391 GO:0034654 nucleobase-containing compound biosynthetic process
391 GO:0060255 regulation of macromolecule metabolic process
391 GO:0019219 regulation of nucleobase-containing compound metabolic process
426 GO:0008380 RNA splicing
426 GO:0006397 mRNA processing
426 GO:0051252 regulation of RNA metabolic process
426 GO:2000112 regulation of cellular macromolecule biosynthetic process
426 GO:0010468 regulation of gene expression
426 GO:0006351 transcription, DNA-templated
452 GO:0090304 nucleic acid metabolic process
452 GO:0010468 regulation of gene expression
452 GO:0007165 signal transduction
455 GO:0010468 regulation of gene expression
458 GO:0006139 nucleobase-containing compound metabolic process
471 GO:0034645 cellular macromolecule biosynthetic process
471 GO:0044271 cellular nitrogen compound biosynthetic process
471 GO:0006464 cellular protein modification process
471 GO:0031324 negative regulation of cellular metabolic process
471 GO:0010605 negative regulation of macromolecule metabolic process
471 GO:0010604 positive regulation of macromolecule metabolic process
471 GO:0051173 positive regulation of nitrogen compound metabolic process
471 GO:0051252 regulation of RNA metabolic process
471 GO:0010468 regulation of gene expression
471 GO:0007165 signal transduction
477 GO:0044271 cellular nitrogen compound biosynthetic process
477 GO:0090304 nucleic acid metabolic process
477 GO:1901362 organic cyclic compound biosynthetic process
477 GO:2000112 regulation of cellular macromolecule biosynthetic process
477 GO:0007165 signal transduction
492 GO:0044271 cellular nitrogen compound biosynthetic process
492 GO:0051252 regulation of RNA metabolic process
492 GO:2000112 regulation of cellular macromolecule biosynthetic process
492 GO:0010468 regulation of gene expression
494 GO:0006139 nucleobase-containing compound metabolic process
504 GO:0044271 cellular nitrogen compound biosynthetic process
504 GO:0044267 cellular protein metabolic process
504 GO:0031324 negative regulation of cellular metabolic process
504 GO:0010629 negative regulation of gene expression
504 GO:0051172 negative regulation of nitrogen compound metabolic process
504 GO:0051252 regulation of RNA metabolic process
504 GO:2000112 regulation of cellular macromolecule biosynthetic process
530 GO:0016070 RNA metabolic process
530 GO:0060255 regulation of macromolecule metabolic process
558 GO:0010467 gene expression
590 GO:0048468 cell development
590 GO:0007166 cell surface receptor signaling pathway
590 GO:0022607 cellular component assembly
590 GO:0032989 cellular component morphogenesis
590 GO:0006464 cellular protein modification process
590 GO:0006928 movement of cell or subcellular component
590 GO:0030182 neuron differentiation
590 GO:0120036 plasma membrane bounded cell projection organization
590 GO:0010628 positive regulation of gene expression
590 GO:0045935 positive regulation of nucleobase-containing compound metabolic process
590 GO:0051128 regulation of cellular component organization
590 GO:0042325 regulation of phosphorylation
590 GO:0051246 regulation of protein metabolic process
590 GO:0006357 regulation of transcription from RNA polymerase II promoter
621 GO:0006355 regulation of transcription, DNA-templated
701 GO:0031327 negative regulation of cellular biosynthetic process
701 GO:0010558 negative regulation of macromolecule biosynthetic process
701 GO:0051172 negative regulation of nitrogen compound metabolic process
701 GO:0006357 regulation of transcription from RNA polymerase II promoter
701 GO:0007165 signal transduction
706 GO:0044267 cellular protein metabolic process
706 GO:0090304 nucleic acid metabolic process
706 GO:0034654 nucleobase-containing compound biosynthetic process
706 GO:2000112 regulation of cellular macromolecule biosynthetic process
706 GO:0010468 regulation of gene expression
706 GO:0019219 regulation of nucleobase-containing compound metabolic process
706 GO:0007165 signal transduction
727 GO:0060255 regulation of macromolecule metabolic process
736 GO:0006139 nucleobase-containing compound metabolic process
736 GO:0060255 regulation of macromolecule metabolic process
749 GO:0007165 signal transduction
763 GO:0060255 regulation of macromolecule metabolic process
769 GO:0007165 signal transduction
859 GO:0010467 gene expression
859 GO:0090304 nucleic acid metabolic process
Cellular Components
Module ID (MoonGO) GO ID (CC) GO Name
7 GO:0005654 nucleoplasm
17 GO:0005829 cytosol
17 GO:0005654 nucleoplasm
44 GO:0005829 cytosol
44 GO:0005634 nucleus
49 GO:0043232 intracellular non-membrane-bounded organelle
49 GO:0005654 nucleoplasm
60 GO:0005634 nucleus
64 GO:0005634 nucleus
120 GO:0005829 cytosol
120 GO:0043232 intracellular non-membrane-bounded organelle
120 GO:0005654 nucleoplasm
143 GO:0005634 nucleus
192 GO:0005829 cytosol
192 GO:0005654 nucleoplasm
238 GO:0005829 cytosol
238 GO:0005634 nucleus
286 GO:0044428 nuclear part
327 GO:0005829 cytosol
327 GO:0043232 intracellular non-membrane-bounded organelle
327 GO:0005634 nucleus
327 GO:0005886 plasma membrane
346 GO:0043232 intracellular non-membrane-bounded organelle
346 GO:0005634 nucleus
357 GO:0005654 nucleoplasm
375 GO:0005829 cytosol
375 GO:0005634 nucleus
380 GO:0005634 nucleus
387 GO:0005829 cytosol
387 GO:0005654 nucleoplasm
391 GO:0070013 intracellular organelle lumen
391 GO:0005634 nucleus
426 GO:0005654 nucleoplasm
452 GO:0005829 cytosol
452 GO:0070013 intracellular organelle lumen
452 GO:0044428 nuclear part
455 GO:0005634 nucleus
458 GO:0005634 nucleus
471 GO:0005654 nucleoplasm
477 GO:0005829 cytosol
477 GO:0070013 intracellular organelle lumen
477 GO:0044428 nuclear part
492 GO:0044428 nuclear part
494 GO:0005634 nucleus
502 GO:0005829 cytosol
502 GO:0031981 nuclear lumen
504 GO:0005654 nucleoplasm
530 GO:0070013 intracellular organelle lumen
530 GO:0005634 nucleus
556 GO:0005829 cytosol
556 GO:0031982 vesicle
558 GO:0005634 nucleus
590 GO:0005829 cytosol
590 GO:0005634 nucleus
590 GO:0005886 plasma membrane
621 GO:0005634 nucleus
701 GO:0005654 nucleoplasm
706 GO:0005829 cytosol
706 GO:0031981 nuclear lumen
726 GO:0005634 nucleus
735 GO:0005829 cytosol
736 GO:0005829 cytosol
736 GO:0070013 intracellular organelle lumen
736 GO:0044428 nuclear part
749 GO:0005829 cytosol
763 GO:0005634 nucleus
773 GO:0005829 cytosol
773 GO:0031981 nuclear lumen
859 GO:0005634 nucleus
GO ID (BP) GO Name Evidence Code (GO EC)
GO:0006351 transcription, DNA-templated IEA
GO:0006396 RNA processing NAS
GO:0007420 brain development ISS
GO:0007612 learning ISS
GO:0007613 memory ISS
GO:0035176 social behavior ISS
GO:0045892 negative regulation of transcription, DNA-templated IDA
GO:0051168 nuclear export IDA
GO ID (CC) GO Name Evidence Code (GO EC)
GO:0005634 nucleus IDA
GO:0005654 nucleoplasm IDA
GO:0005730 nucleolus IDA
GO:0005737 cytoplasm IDA
GO:0005829 cytosol IDA
GO:0016363 nuclear matrix IDA
GO:0042272 nuclear RNA export factor complex IDA
GO:0042405 nuclear inclusion body IDA
No pairs of PrOnto dissimilar CC GO terms found.
Interactor Also a MoonDB EMF protein
RBPMS_HUMAN Yes: Q93062 (MoonDB)
QRIC1_HUMAN No
FBLN4_HUMAN No
PR20D_HUMAN No
DAZP2_HUMAN Yes: Q15038 (MoonDB)
RFOX1_HUMAN No
ARI5A_HUMAN No
CRX_HUMAN No
PROP1_HUMAN No
COIL_HUMAN No
REL_HUMAN No
TRAF2_HUMAN No
FHL2_HUMAN No
KLH12_HUMAN No
NHSL2_HUMAN No
CA094_HUMAN No
TEANC_HUMAN No
LITAF_HUMAN No
A0A0C4DGF1_HUMAN No
1433E_HUMAN Yes: P62258 (MoonDB)
1433Z_HUMAN Yes: P63104 (MoonDB)
4ET_HUMAN No
ACACA_HUMAN No
ACHA7_HUMAN No
ADA15_HUMAN No
ADCY6_HUMAN No
ADDG_HUMAN No
AHDC1_HUMAN No
AN32A_HUMAN No
ANKH1_HUMAN No
APBB1_HUMAN No
ARIP4_HUMAN No
ASNS_HUMAN No
AT1A3_HUMAN No
ATF5_HUMAN No
ATX1L_HUMAN No
ATX2L_HUMAN No
ATX2_HUMAN No
B3A2_HUMAN No
BAALC_HUMAN No
BACH_HUMAN No
BASP1_HUMAN No
BATF2_HUMAN No
BEND2_HUMAN No
BHE40_HUMAN Yes: O14503 (MoonDB)
BICRL_HUMAN No
BTG3_HUMAN No
CB027_HUMAN No
CC136_HUMAN No
CCNK_HUMAN No
CDIP1_HUMAN No
CDK6_HUMAN Yes: Q00534 (MoonDB)
CIC_HUMAN No
CIRBP_HUMAN No
CJ055_HUMAN No
CLASR_HUMAN No
CLC4F_HUMAN No
CLCN2_HUMAN No
COF1_HUMAN No
CPSF5_HUMAN No
CPSF7_HUMAN No
CREM_HUMAN No
CRIP2_HUMAN No
CRK_HUMAN Yes: P46108 (MoonDB)
CRY2_HUMAN No
CUTC_HUMAN No
CYTC_HUMAN No
DAZ2_HUMAN No
DCTN3_HUMAN No
DHRSX_HUMAN No
DHX37_HUMAN No
DIXC1_HUMAN No
DMPK_HUMAN No
DNJA3_HUMAN No
DOCK5_HUMAN No
DZIP3_HUMAN No
EHMT1_HUMAN No
EIF1B_HUMAN No
EIF3F_HUMAN No
ELP5_HUMAN No
EMAL3_HUMAN No
ENTP6_HUMAN No
EPN2_HUMAN No
ERF3A_HUMAN No
ERR1_HUMAN No
ESRP1_HUMAN No
ETV4_HUMAN No
EXTL3_HUMAN No
F168A_HUMAN No
F193B_HUMAN No
FA46A_HUMAN No
FA46B_HUMAN No
FACR1_HUMAN No
FAT4_HUMAN No
FNDC9_HUMAN No
FOSL1_HUMAN No
FOXN4_HUMAN No
FPPS_HUMAN No
FUBP3_HUMAN No
FYN_HUMAN Yes: P06241 (MoonDB)
G3P_HUMAN Yes: P04406 (MoonDB)
GATD1_HUMAN No
GCFC2_HUMAN No
GGA2_HUMAN No
GMEB2_HUMAN No
GPTC8_HUMAN No
GRAN_HUMAN No
H31_HUMAN No
HEY2_HUMAN No
HEYL_HUMAN No
HNRLL_HUMAN No
HPCL1_HUMAN No
HS71A_HUMAN No
HSFX1_HUMAN No
HSFY1_HUMAN No
HYPM_HUMAN No
IF1AY_HUMAN No
IL34_HUMAN No
ILVBL_HUMAN No
IPO8_HUMAN No
IST1_HUMAN No
ITB4_HUMAN No
K154L_HUMAN No
K2026_HUMAN No
KAT6A_HUMAN No
KCAB2_HUMAN No
KCC1A_HUMAN No
KCC2B_HUMAN No
KCD15_HUMAN No
KIF22_HUMAN No
KLF11_HUMAN No
KLHL8_HUMAN No
KMT2B_HUMAN No
KR124_HUMAN No
LASP1_HUMAN No
LDB1_HUMAN No
LOXL1_HUMAN No
LPAL2_HUMAN No
LPAR2_HUMAN No
LRSM1_HUMAN Yes: Q6UWE0 (MoonDB)
LST8_HUMAN No
MAGB2_HUMAN No
MAGB6_HUMAN No
MAGBI_HUMAN No
MATN2_HUMAN No
MBP_HUMAN No
MED15_HUMAN No
MET17_HUMAN No
MET27_HUMAN No
MIC60_HUMAN No
MINT_HUMAN No
MPRI_HUMAN No
MSMO1_HUMAN No
MSX2_HUMAN No
MTEF4_HUMAN No
MY18A_HUMAN No
NCAM1_HUMAN No
NCOR1_HUMAN No
NCOR2_HUMAN No
NFYA_HUMAN No
NLK_HUMAN No
NPHP3_HUMAN No
NR4A1_HUMAN Yes: P22736 (MoonDB)
NTM2B_HUMAN No
NUMBL_HUMAN No
OAZ1_HUMAN No
OPCM_HUMAN No
OSTA_HUMAN No
OTX2_HUMAN Yes: P32243 (MoonDB)
P121A_HUMAN No
P5I11_HUMAN No
PA2GX_HUMAN No
PEPD_HUMAN No
PHP14_HUMAN No
PIAS1_HUMAN No
PICAL_HUMAN Yes: Q13492 (MoonDB)
PIM2_HUMAN No
PKHA5_HUMAN No
PKHB1_HUMAN No
PKHN1_HUMAN No
POGZ_HUMAN No
POMP_HUMAN No
PP6R2_HUMAN No
PR20A_HUMAN No
PR20C_HUMAN No
PRC2A_HUMAN No
PRC2B_HUMAN No
PRDM1_HUMAN No
PRS6A_HUMAN No
PTGDS_HUMAN No
PUM1_HUMAN No
PUR1_HUMAN No
Q6IPW0_HUMAN No
QKI_HUMAN No
R3HD1_HUMAN No
R3HD2_HUMAN No
RAI2_HUMAN No
RBM26_HUMAN No
RCC1L_HUMAN No
RCN1_HUMAN No
RFOX2_HUMAN No
RHG32_HUMAN No
RHXF2_HUMAN No
RNF31_HUMAN No
RPGF1_HUMAN No
RPGF4_HUMAN No
S2551_HUMAN No
S6A13_HUMAN No
SAR1A_HUMAN No
SEM4G_HUMAN No
SERB_HUMAN No
SETD2_HUMAN No
SETD6_HUMAN No
SF01_HUMAN Yes: Q15637 (MoonDB)
SIA7F_HUMAN No
SIX5_HUMAN No
SMRC2_HUMAN No
SMS1_HUMAN No
SORC3_HUMAN No
SOX3_HUMAN No
SP20H_HUMAN No
SRBP1_HUMAN No
SRBP2_HUMAN No
STAC2_HUMAN No
STAM2_HUMAN No
SUGP2_HUMAN No
SUH_HUMAN No
SUMO1_HUMAN Yes: P63165 (MoonDB)
SV2A_HUMAN No
SYBU_HUMAN No
SYNC_HUMAN No
TBCD5_HUMAN No
TBX15_HUMAN No
TCTA_HUMAN No
TELT_HUMAN No
TMX2_HUMAN No
TOLIP_HUMAN No
TOM20_HUMAN No
TOX4_HUMAN No
TPRX1_HUMAN No
TRI32_HUMAN No
TRI38_HUMAN No
TRIP6_HUMAN No
TSC1_HUMAN No
TTC19_HUMAN No
TYDP2_HUMAN No
U2AF2_HUMAN No
UB2E1_HUMAN Yes: P51965 (MoonDB)
UB2E3_HUMAN Yes: Q969T4 (MoonDB)
UBC9_HUMAN Yes: P63279 (MoonDB)
UBP2L_HUMAN No
UBP54_HUMAN No
UBP7_HUMAN No
UBQL4_HUMAN No
UH1BL_HUMAN No
UHRF2_HUMAN No
UNK_HUMAN No
VA0D1_HUMAN No
VISL1_HUMAN No
VTM2L_HUMAN No
WAC2C_HUMAN No
WNK1_HUMAN Yes: Q9H4A3 (MoonDB)
WNK2_HUMAN No
YYAP1_HUMAN No
Z3H7B_HUMAN No
Z804A_HUMAN No
ZBT32_HUMAN No
ZC3HA_HUMAN No
ZCH13_HUMAN No
ZEP1_HUMAN Yes: P15822 (MoonDB)
ZHX1_HUMAN No
ZHX2_HUMAN No
ZHX3_HUMAN No
ZN276_HUMAN No
ZN488_HUMAN No
ZN609_HUMAN No
ZSCA1_HUMAN No
ZSWM8_HUMAN No
ZXDC_HUMAN No
ZYX_HUMAN No
PMID Article Title
7647801 Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals.
7951322 Identification and characterization of the gene causing type 1 spinocerebellar ataxia.
8634720 A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.
9097953 Identification of a self-association region within the SCA1 gene product, ataxin-1.
9353121 The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1.
11001934 Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein.
11136710 The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.
12062018 Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death.
12093161 USP7, a ubiquitin-specific protease, interacts with ataxin-1, the SCA1 gene product.
12741986 Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice.
14574404 The DNA sequence and analysis of human chromosome 6.
14583607 The structure of the AXH domain of spinocerebellar ataxin-1.
15489334 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15824120 SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal.
16121196 Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1.
18669648 A quantitative atlas of mitotic phosphorylation.
21475249 Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway.
23186163 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
25768905 Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.
OMIM ID Disease Name
164400 Spinocerebellar ataxia 1
Domain Name Domain ID Source
Ataxin_AXH_dom IPR003652 InterPro
WD40/YVTN_repeat-like_dom_sf IPR015943 InterPro
Capicua_tscrpt_rep_mod IPR020997 InterPro
Ataxin_AXH_dom_sf IPR036096 InterPro
AXH PF08517 Pfam
ATXN-1_C PF12547 Pfam
AXH PS51148 PROSITE
S46268 S46268 PIR
AXH SM00536 SMART
SSF102031 SSF102031 SUPFAM