Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ATXN1
Previous Symbol	SCA1
Symbol Alias	D6S504E, ATX1
Approved Name	ataxin 1
Previous Name	spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)
Location	6p23
Position	chr6:16299112-16761491, -1
External Links	HGNC: 10548 Entrez Gene: 6310 Ensembl: ENSG00000124788 UCSC: uc010jpi.3
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Johnson, C.,2009		Monte-Carlo Simulation P-value = 0.0009. One of Genes That Harbor Overlapping Clusters of 4 Nominally Positive SNPs Whose Allele Frequencies Distinguish Individuals With Bipolar Disorder From Controls With P<0.05 Nominal Significance From at Least Three of the Four Samples in This Analysis	Positive	Comment on Study
Fallin, M. D.,2005		23 SNP typed, Median D'=0.12, Median r<sup>2</sup> =0, 14 LD blocks, 0.25 block coverage, there exists SNP or haplotype nominal P-value < 0.01 in SZ/SZA and all SNP or haplotype P-value > 0.05 in BP.. This gene is highly suggestive to SZ/SZA , not suggestive to BP.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 27)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[19208651]	283
GO:0003677	DNA binding	molecular function	IEA	83

GO terms by database search (count: 25)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0051168	nuclear export	biological process	IDA[15615787]	2
GO:0048286	lung alveolus development	biological process	IEA	4
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IEA	91
GO:0008022	protein C-terminus binding	molecular function	IPI[12757932]	21
GO:0016363	nuclear matrix	cellular component	IDA[17557114]	7
GO:0060079	regulation of excitatory postsynaptic membrane potential	biological process	IEA	10
GO:0005654	nucleoplasm	cellular component	IDA	163
GO:0003682	chromatin binding	molecular function	IEA	23
GO:0042405	nuclear inclusion body	cellular component	IDA[15615787]	1
GO:0042326	negative regulation of phosphorylation	biological process	IEA	3
GO:0043569	negative regulation of insulin-like growth factor receptor signaling pathway	biological process	IEA	1
GO:0008344	adult locomotory behavior	biological process	IEA	15
GO:0043621	protein self-association	molecular function	IDA[9097953]	4
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0034046	poly(G) binding	molecular function	IDA[11136710]	1
GO:0045892	negative regulation of transcription, DNA-templated	biological process	IDA[15016912]	43
GO:0006396	RNA processing	biological process	NAS[15615787]	4
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IEA	62
GO:0008266	poly(U) RNA binding	molecular function	IDA[11136710]	2
GO:0008542	visual learning	biological process	IEA	17
GO:0042272	nuclear RNA export factor complex	cellular component	IDA[15615787]	1
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0005515	protein binding	molecular function	IPI[11001934]	563
GO:0042802	identical protein binding	molecular function	IPI[11001934]	44

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 149)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ATXN1	HPCAL1	NO	yeast 2-hybrid	16713569
ATXN1	ANKHD1	NO	yeast 2-hybrid	16713569
ATXN1	ZNF609	NO	yeast 2-hybrid	16713569
ATXN1	GCA	NO	yeast 2-hybrid	16713569
ATXN1	HSFX1	NO	yeast 2-hybrid	16713569
ATXN1	MBP	YES	yeast 2-hybrid	16713569
ATXN1	SGMS1	NO	yeast 2-hybrid	16713569
ATXN1	DCTN3	NO	yeast 2-hybrid	16713569
ATXN1	ZHX1	NO	yeast 2-hybrid	16713569
ATXN1	TBC1D5	NO	yeast 2-hybrid	16713569
ATXN1	SFRS16	NO	yeast 2-hybrid	16713569
ATXN1	RCN1	NO	yeast 2-hybrid	16713569
ATXN1	ZNF276	YES	yeast 2-hybrid	16713569
ATXN1	QRICH1	NO	yeast 2-hybrid	16713569
ATXN1	TRIP6	NO	yeast 2-hybrid	16713569
ATXN1	NARS	NO	yeast 2-hybrid	16713569
ATXN1	RAPGEF4	NO	yeast 2-hybrid	16713569
ATXN1	TOLLIP	NO	yeast 2-hybrid	16713569
ATXN1	TRAF2	NO	yeast 2-hybrid	16713569
ATXN1	IL34	NO	yeast 2-hybrid	16713569
ATXN1	CLEC4F	NO	yeast 2-hybrid	16713569
ATXN1	SMARCC2	NO	yeast 2-hybrid	16713569
ATXN1	KLHL12	NO	yeast 2-hybrid	16713569
ATXN1	ZC3H7B	NO	yeast 2-hybrid	16713569
ATXN1	BTG3	NO	yeast 2-hybrid	16713569
ATXN1	OAZ1	NO	yeast 2-hybrid	16713569
ATXN1	KLHL8	NO	yeast 2-hybrid	16713569
ATXN1	METT11D1	NO	yeast 2-hybrid	16713569
ATXN1	R3HDM1	NO	yeast 2-hybrid	16713569
ATXN1	CPSF7	NO	yeast 2-hybrid	16713569
ATXN1	OTX2	YES	yeast 2-hybrid	16713569
ATXN1	HSN2	NO	yeast 2-hybrid	16713569
ATXN1	NCOR1	NO	yeast 2-hybrid	16713569
ATXN1	ZC3H10	NO	yeast 2-hybrid	16713569
ATXN1	KIAA0174	NO	yeast 2-hybrid	16713569
ATXN1	FAM21C	NO	yeast 2-hybrid	16713569
ATXN1	EFEMP2	NO	yeast 2-hybrid	16713569
ATXN1	CCDC136	NO	yeast 2-hybrid	16713569
ATXN1	RNF31	NO	yeast 2-hybrid	16713569
ATXN1	KLF11	NO	yeast 2-hybrid	16713569
ATXN1	HIVEP1	NO	yeast 2-hybrid	16713569
ATXN1	DMPK	NO	yeast 2-hybrid	16713569
ATXN1	CRK	NO	yeast 2-hybrid	16713569
ATXN1	CCNK	NO	yeast 2-hybrid	16713569
ATXN1	CIC	NO	in vitro;in vivo;yeast 2-hybrid	16713569 , 17190598
ATXN1	BATF2	NO	yeast 2-hybrid	16713569
ATXN1	C17orf81	NO	yeast 2-hybrid	16713569
ATXN1	PEPD	NO	yeast 2-hybrid	16713569
ATXN1	PSMC3	NO	yeast 2-hybrid	16713569
ATXN1	NR4A1	NO	yeast 2-hybrid	16713569
ATXN1	UBE2I	NO	yeast 2-hybrid	16713569
ATXN1	ST6GALNAC6	NO	yeast 2-hybrid	16713569
ATXN1	YWHAE	YES	in vitro;in vivo;yeast 2-hybrid	12757707
ATXN1	BAT2L1	NO	yeast 2-hybrid	16713569
ATXN1	ATXN2	YES	yeast 2-hybrid	16713569
ATXN1	NUDT21	NO	yeast 2-hybrid	16713569
ATXN1	GAPDH	NO	in vitro;yeast 2-hybrid	8872471
ATXN1	PUM1	NO	yeast 2-hybrid	16713569
ATXN1	RAD54L2	YES	yeast 2-hybrid	16713569
ATXN1	IPO8	NO	yeast 2-hybrid	16713569
ATXN1	RBM9	NO	yeast 2-hybrid	16713569
ATXN1	C1orf94	NO	yeast 2-hybrid	16713569
ATXN1	NLK	NO	yeast 2-hybrid	16713569
ATXN1	ZCCHC13	NO	yeast 2-hybrid	16713569
ATXN1	POM121	NO	yeast 2-hybrid	16713569
ATXN1	CST3	NO	yeast 2-hybrid	16713569
ATXN1	AKT1	YES	in vitro;in vivo	12757707 , 12741986
ATXN1	COIL	NO	in vitro;in vivo;yeast 2-hybrid	12757932 , 16713569
ATXN1	TRIM32	NO	yeast 2-hybrid	16713569
ATXN1	SFRS14	NO	yeast 2-hybrid	16713569
ATXN1	FAT4	NO	yeast 2-hybrid	16713569
ATXN1	FHL2	NO	yeast 2-hybrid	16713569
ATXN1	ZBTB32	NO	yeast 2-hybrid	16713569
ATXN1	ZYX	NO	yeast 2-hybrid	16713569
ATXN1	DNAJA3	YES	yeast 2-hybrid	16713569
ATXN1	ITGB4	NO	yeast 2-hybrid	16713569
ATXN1	AHDC1	NO	yeast 2-hybrid	16713569
ATXN1	SETD2	NO	yeast 2-hybrid	16713569
ATXN1	CFL1	NO	yeast 2-hybrid	16713569
ATXN1	SREBF1	NO	yeast 2-hybrid	16713569
ATXN1	PRDM1	NO	yeast 2-hybrid	16713569
ATXN1	PQBP1	NO	in vitro;in vivo	12062018
ATXN1	SC4MOL	NO	yeast 2-hybrid	16713569
ATXN1	TCAP	YES	yeast 2-hybrid	16713569
ATXN1	PTGDS	NO	yeast 2-hybrid	16713569
ATXN1	APBB1	NO	yeast 2-hybrid	16713569
ATXN1	GMEB2	NO	yeast 2-hybrid	16713569
ATXN1	HSPA1A	YES	yeast 2-hybrid	16713569
ATXN1	ACOT7	NO	yeast 2-hybrid	16713569
ATXN1	GPATCH8	NO	yeast 2-hybrid	16713569
ATXN1	RBPMS	NO	yeast 2-hybrid	16713569
ATXN1	MATN2	YES	yeast 2-hybrid	16713569
ATXN1	PIM2	NO	yeast 2-hybrid	16713569
ATXN1	RHOXF2	NO	yeast 2-hybrid	16713569
ATXN1	ZNF488	NO	yeast 2-hybrid	16713569
ATXN1	ATXN2L	NO	yeast 2-hybrid	16713569
ATXN1	YY1AP1	NO	yeast 2-hybrid	16713569
ATXN1	STAC2	NO	yeast 2-hybrid	16713569
ATXN1	WNK2	YES	yeast 2-hybrid	16713569
ATXN1	SIX5	NO	yeast 2-hybrid	16713569
ATXN1	SAR1A	NO	yeast 2-hybrid	16713569
ATXN1	SAPS2	NO	yeast 2-hybrid	16713569
ATXN1	EIF4ENIF1	NO	yeast 2-hybrid	16713569
ATXN1	ZNF804A	YES	yeast 2-hybrid	16713569
ATXN1	YWHAZ	NO	in vitro;in vivo;yeast 2-hybrid	12757707
ATXN1	SPEN	NO	yeast 2-hybrid	16713569
ATXN1	CDK6	NO	yeast 2-hybrid	16713569
ATXN1	U2AF2	NO	yeast 2-hybrid	16713569
ATXN1	FAM46A	NO	yeast 2-hybrid	16713569
ATXN1	ZHX3	NO	yeast 2-hybrid	16713569
ATXN1	MTERFD2	NO	yeast 2-hybrid	16713569
ATXN1	TOX4	NO	yeast 2-hybrid	16713569
ATXN1	FAM193B	NO	yeast 2-hybrid	16713569
ATXN1	FAM48A	NO	yeast 2-hybrid	16713569
ATXN1	KIAA2026	NO	yeast 2-hybrid	16713569
ATXN1	FAM46B	NO	yeast 2-hybrid	16713569
ATXN1	KIAA0913	NO	yeast 2-hybrid	16713569
ATXN1	NUMBL	NO	yeast 2-hybrid	16713569
ATXN1	C2orf3	NO	yeast 2-hybrid	16713569
ATXN1	MYST3	NO	yeast 2-hybrid	16713569
ATXN1	ACACA	NO	yeast 2-hybrid	16713569
ATXN1	ATP6V0D1	YES	yeast 2-hybrid	16713569
ATXN1	R3HDM2	NO	yeast 2-hybrid	16713569
ATXN1	CIRBP	NO	yeast 2-hybrid	16713569
ATXN1	LRSAM1	NO	yeast 2-hybrid	16713569
ATXN1	TTC19	NO	yeast 2-hybrid	16713569
ATXN1	USP54	YES	yeast 2-hybrid	16713569
ATXN1	MYO18A	NO	yeast 2-hybrid	16713569
ATXN1	EIF1AY	NO	yeast 2-hybrid	16713569
ATXN1	VSTM2L	NO	yeast 2-hybrid	16713569
ATXN1	ANP32A	NO	yeast 2-hybrid	9353121
ATXN1	ADCY6	NO	yeast 2-hybrid	16713569
ATXN1	C11orf41	NO	yeast 2-hybrid	16713569
ATXN1	KCNAB2	YES	yeast 2-hybrid	16713569
ATXN1	USP7	NO	in vivo;yeast 2-hybrid	12093161
ATXN1	BEND2	NO	yeast 2-hybrid	16713569
ATXN1	LDB1	NO	yeast 2-hybrid	16713569
ATXN1	ENTPD6	NO	yeast 2-hybrid	16713569
ATXN1	FDPS	NO	yeast 2-hybrid	16713569
ATXN1	UBAP2L	NO	yeast 2-hybrid	16713569
ATXN1	BAT2	NO	yeast 2-hybrid	16713569
ATXN1	DAZAP2	NO	yeast 2-hybrid	16713569
ATXN1	DZIP3	NO	yeast 2-hybrid	16713569
ATXN1	ARID5A	NO	yeast 2-hybrid	16713569
ATXN1	VSNL1	NO	yeast 2-hybrid	16713569
ATXN1	ATP1A3	YES	yeast 2-hybrid	16713569
ATXN1	UBQLN4	NO	yeast 2-hybrid	11001934 , 16713569
ATXN1	UBE2E3	NO	yeast 2-hybrid	16713569
ATXN1	PHPT1	NO	yeast 2-hybrid	16713569

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6p22	chr6:15200000-30500000	1 (0/1/0)
6p22.3	chr6:15200000-25200000	1 (0/1/0)
6p23-p21.1	chr6:13400000-46200000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
16380905	This gene is highly suggestive to SZ/SZA , not suggestive to BP.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 7)

Reference	ID in SZGene	Result Category
19694819	354	Negative
9187671	354	Negative
16380905	354	Positive
10335546	354	Positive
9184318	354	Negative
10551541	354	Negative
11121205	354	Positive

Gene relationship with MDD

View in gBrowse

Region: chr6:16299112..16761491 View in gBrowse