Protein: P54253 | MoonDB v2.0

UniprotKB AC	UniprotKB ID	Gene name	Full name	Species	Curated set
P54253 (Uniprot)	ATX1_HUMAN	ATXN1	Ataxin-1	human	No

Protein Function

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 a more..

MoonDB Dissimilar Functions

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GO ID 1	Function 1	Module ID 1	GO ID 2	Function 2	Module ID 2	Association Probability (PrOnto)	Interaction Probability (PrOnto)
GO:0006396	RNA processing	426	GO:0048869	cellular developmental process	590	2.41e-03	1.32e-38
GO:0006464	cellular protein modification process	375	GO:0006396	RNA processing	426	5.60e-03	3.14e-16
GO:0036211	protein modification process	120	GO:0006396	RNA processing	426	5.60e-03	3.14e-16

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MoonDB Network Modules

Biological Processes

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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

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Cellular Components

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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

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Protein GO Annotations

Biological Processes

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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

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Cellular Components

Showing 1 to 8 of 8 entries

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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

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Dissimilar Cellular Components (PrOnto)

No pairs of PrOnto dissimilar CC GO terms found.

All Protein Interactions

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Interactor	Also a MoonDB EMF protein
1433E_HUMAN	Yes: P62258 (MoonDB)
1433Z_HUMAN	Yes: P63104 (MoonDB)
4ET_HUMAN	No
A0A0C4DGF1_HUMAN	No
ACACA_HUMAN	No
ACHA7_HUMAN	No
ADA15_HUMAN	No
ADCY6_HUMAN	No
ADDG_HUMAN	No
AHDC1_HUMAN	No

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Publications Associated

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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.

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OMIM Diseases Associated

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OMIM ID	Disease Name
164400	Spinocerebellar ataxia 1

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Protein Domains Associated

Showing 1 to 10 of 10 entries

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Domain Name	Domain ID	Source
Ataxin_AXH_dom	IPR003652	InterPro
Ataxin_AXH_dom_sf	IPR036096	InterPro
ATXN-1_C	PF12547	Pfam
AXH	PF08517	Pfam
AXH	PS51148	PROSITE
AXH	SM00536	SMART
Capicua_tscrpt_rep_mod	IPR020997	InterPro
S46268	S46268	PIR
SSF102031	SSF102031	SUPFAM
WD40/YVTN_repeat-like_dom_sf	IPR015943	InterPro

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