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ATXN1 Gene

protein-coding GIFtS: 62

GC06M016408

ataxin 1
(Previous names: spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SCA1)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ATX1 ^¹, ², ³, ⁵
D6S504E ^¹, ²
OTTHUMP00000016065 ^²
OTTHUMP00000039306 ^²
SCA1 ^², ³, ⁵

Descriptions
Spinocerebellar ataxia type 1 protein ^³
ataxin 1 ^²
spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1) ^¹

External Ids
HGNC: 10548¹
Entrez Gene: 6310²
UniProtKB: P54253³
Ensembl: ENSG00000124788⁷

Search outside databases for aliases for ATXN1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ATXN1:

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative

disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord.

Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically

heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6,

being assigned to five different chromosomes. ADCAII, which always presents with retinal

degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5),

are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG

repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an

elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in

size and unstable, usually increasing in size when transmitted to successive generations. The

function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been

determined that the diseased allele contains 41-81 CAG repeats, compared to 6-39 in the normal

allele. At least two transcript variants encoding the same protein have been found for this gene.

[provided by RefSeq]

UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253

Function: Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine

tract may alter this function

Gene Wiki entry for ATXN1 (Ataxin_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ATXN1 gene

Entrez Gene cytogenetic band: 6p23 Ensembl cytogenetic band: 6p22.3 HGNC cytogenetic band: 6p23

ATXN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M016408: (about GC identifiers)

Start:	16,407,322 bp from pter
End:	16,869,700 bp from pter
Size:	462,379 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000006.10 NT_007592.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253 (See protein sequence)

Recommended Name: Ataxin-1

Size: 815 amino acids; 86923 Da

Subunit: Interacts with CIC (By similarity). Interacts with ANP32A, PQBP1, UBIN, ATXN1L, USP7 and

ZNF804A

Subcellular location: Cytoplasm (By similarity). Nucleus. Note=Colocalizes with USP7 in the nucleus

Miscellaneous: The self-association seems to be necessary to form nuclear aggregates

PDB structures from and Proteopedia :

1OA8 (3D)

Secondary accessions: Q17S02 Q9UJG2 Q9Y4J1

Alternative splicing: 1 isoform: P54253-1 (At least 2 isoforms are produced)

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000323.2 NP_001121636.1

ENSEMBL proteins:

ENSP00000368355 ENSP00000384776 ENSP00000244769

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Ataxin 1)
	Human Recombinant Proteins from Abnova (ATXN1)

OriGene Purified Recombinant Human Protein: ATXN1

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	7647801
GO:0005654	nucleoplasm	IDA	12757932
GO:0005737	cytoplasm	IDA	7647801
GO:0016363	nuclear matrix	IDA	17557114
GO:0042272	colocalizes with nuclear RNA export factor complex	IDA	15615787

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Antibodies for ATXN1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ATXN1
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for ATXN1 (Ataxin-1)
	Antibodies from Abcam (Ataxin 1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ATXN1)
	Novus Biologicals Antibody for ATXN1

Assays for ATXN1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P54253

ProtoNet protein and cluster: P54253

1 Blocks protein family: IPB003652 Ataxin-containing protein

UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253

Domain: The AXH domain is required for interaction with CIC (By similarity)

Similarity: Belongs to the ATXN1 family

Similarity: Contains 1 AXH domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ATXN1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ATXN1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000332

Applied Biosystems Silencer® siRNAs for ATXN1

Sigma-Aldrich siRNA for ATXN1

Sigma-Aldrich shRNA for ATXN1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000332
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000332
untagged cDNA clones in CMV expression vector (see all 2): NM_000332

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001128164

UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253

Function: Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine

tract may alter this function

6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Atxn1):

behavior/neurological	growth/size	life span-post-weaning/aging	muscle	nervous system
skeleton

5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003723	RNA binding	IEA	--
GO:0008022	protein C-terminus binding	IPI	12757932 15016912
GO:0008266	poly(U) binding	IDA	11136710
GO:0016564	transcription repressor activity	IDA	15016912
GO:0034046	poly(rG) binding	IDA	11136710

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for ATXN1

5/208 Interacting proteins for ATXN1 (ENSP00000244769³ P54253^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 208 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ENSG00000206318	P48634¹^,²	EBI-930964, EBI-347545 MINT-2864423 MINT-2856362 MINT-2864404 MINT-2864442
ENSG00000206427	P48634¹^,²	EBI-930964, EBI-347545 MINT-2864423 MINT-2856362 MINT-2864404 MINT-2864442
C17orf81	Q8TE02¹^,²	EBI-930964, EBI-946189 MINT-2856038 MINT-2871342
DERP6	Q8TE02¹^,²	EBI-930964, EBI-946189 MINT-2856038 MINT-2871342
ENSG00000078328	Q9NWB1¹^,²	EBI-930964, EBI-945906 MINT-2862789 MINT-2855803

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5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006396	RNA processing	NAS	15615787
GO:0008219	cell death	IEA	--
GO:0008344	adult locomotory behavior	IEA	--
GO:0008542	visual learning	IEA	--
GO:0016481	negative regulation of transcription	IDA	15016912

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ATXN1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ATXN1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ATXN1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000332

Sigma-Aldrich siRNA for ATXN1

Sigma-Aldrich shRNA for ATXN1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000332 NM_001128164

REFSEQ mRNAs for ATXN1 gene (2 alternative transcripts):

NM_000332.3 NM_001128164.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000332 NM_001128164

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000332
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000332
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000332

Additional cDNA sequence:

AK311274.1 AK311649.1 BC010948.1 BC011026.1 BC014548.1 BC029401.1 BC039236.1 BC047894.1

BC063120.1 BC092446.1

13 DOTS entries:

DT.447570 DT.91820821 DT.121363145 DT.95265243 DT.91855863 DT.100692863 DT.95174806 DT.100691198

DT.202856 DT.95174805 DT.121363083 DT.91802425 DT.99942744

24/199 AceView cDNA sequences (see all 199 ):

AA733094 BF222542 AA251286 CA447014 BU686849 BC047894 BU682892 AW235612

AW612517 CK300399 AI888369 AI701157 Z40940 AW439429 BX280048 AI333951

AL599289 AA773796 BF516250 CA394528 BX505133 BE047876 AW662381 N24745

highest scoring ESTs for ATXN1:

X79204 AA779236 BC011026 BC014548 BC039236 BC047894 BC063120 BF670717 BF697040 BG253572

Unigene Clusters for ATXN1:

Ataxin 1

Hs.434961 [show with all ESTs], Hs.712106 [show with all ESTs]

Unigene Representative Sequences: X79204, BC047894

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ATXN1

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4a	·	4b	^	5	^	6	^	7	^	8
SP1:
SP2:											-		-
SP3:					-
SP4:

About this scheme

ECgene alternative splicing isoforms for ATXN1

3 Ensembl transcripts including schematic representations:

ENST00000379065 ENST00000405101 ENST00000244769

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ATXN1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ATXN1

¹ / ² / ³

9 probe-sets matching ATXN1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36142_at²^{, 3}	U95-A	1	1.00	1.00	0.64	1.27	X79204	1.00	1.00	1.00	1
77900_at²^{, 3}	U95-D	2	1.00	0.50	0.75	0.74	AI733591	0.60	1.00	0.82	1
203232_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000332	0.60	1.00	0.82	1
203231_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AW235612	0.60	1.00	0.82	1
242230_at²^{, 3}	U133-B	2	0.91	0.50	--	--	BF438383	0.40	1.00	0.76	1
1559249_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203232_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203231_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
242230_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene clusters: Hs.434961 Hs.712106
Expression variation in blood from EXPOLDB for ATXN1
UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253
Tissue specificity: Widely expressed throughout the body

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ATXN1 gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ATXN1¹	--	ataxin 1	89.3(n) 90.77(a)	488232 XM_545354.2 XP_545354.2
chimpanzee (Pan troglodytes)	ATXN1¹	--	ataxin 1	99.42(n) 99.51(a)	747421 XM_001170170.1 XP_001170170.1
cow (Bos taurus)	ATXN1¹	--	ataxin 1	86.81(n) 89.41(a)	616399 XM_868412.2 XP_873505.2
rat (Rattus norvegicus)	Atxn1¹	--	ataxin 1	86.57(n) 90.24(a)	25049 NM_012726.1 NP_036858.1
mouse (Mus musculus)	Atxn1^{1, 5}	13 (28.00 cM)⁵	ataxin 1^{1, 5}	86.29(n)¹ 89.75(a)¹	20238¹ NM_009124.3¹ NP_033150.2¹ AI848153⁵ AK037692⁵ (see all 13)

About this table Species with no ortholog for ATXN1

ENSEMBL Gene Tree for ATXN1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253

Polymorphism: The poly-Gln region of ATXN1 is highly polymorphic (4 to 39 repeats) in the normal

population and is expanded to about 40-83 repeats in spinocerebellar ataxia 1 (SCA1) patients

10/3024 NCBI SNPs in ATXN1 are shown (see all 3024 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 1013)

AB	SNP ID	Valid	Chr 6 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs111168^1,2	A,C,F,H,O	16414338(-)	`TGAGCG/CGGCGG`	2	--	ut3¹		10	NA MN EU EA WA	900
	rs16885^1,2	A,C,F,H	16414730(-)	`GATTGC/TCTGCA`	2	P/S	mis¹		15	MN EU EA WA NA	1302
	rs180017^1,2	C,F,H	16414181(-)	`AAGGGT/CCCTGC`	2	--	ut3¹ ese³		12	EA NA EU WA	952
	rs16877822^1,2	C,F,H	16413249(+)	`ATATCT/GTGCTC`	2	--	ut3¹		7	NA EU EA WA	552
--	rs11969612^1,2	A,C,F	16435894(+)	`TGCTGA/CTGCTG`	2	H/Q	mis¹ ese³		1	NA	10
--	rs2237225^1,2	C,F	16406845(-)	`gaggcC/Tgaggc`	1	--	ng5¹		1	EA	752
	rs12524151^1,2	C,H	16413847(+)	`AAAAAA/TATATA`	2	--	ut3¹		4	EU EA WA	414
	rs11757955^1,2	C,H	16412969(+)	`AAAAAC/TTGCAG`	2	--	ut3¹		4	EU EA WA	418
--	rs3116712^1,2	F,H	16414183(-)	`GGAAGG/AGTCCT`	2	--	ut3¹ ese³		4	EU EA WA	372
--	rs16877817^1,2	C,F	16408803(+)	`AAAATA/CAAATG`	2	--	ut3¹		3	NA	142

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HapMap Linkage Disequilibrium images for ATXN1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 601556 disorders: 164400

UniProtKB/Swiss-Prot: ATX1_HUMAN, P54253

Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also

known as olivopontocerebellar atrophy I (OPCA I or OPCA1). Spinocerebellar ataxia is a clinically

and genetically heterogeneous group of cerebellar disorders. Patients show progressive

incoordination of gait and often poor coordination of hands, speech and eye movements, due to

cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs

to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar

ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia,

bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion

of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more

severe clinical manifestations of the disease

10/19 Novoseek disease relationships for ATXN1 gene (see all 19 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
spinocerebellar ataxia type 1	98.33	76	10335546 (2), 8111382 (2), 10424816 (2), 9342197 (2) (see all 53)
spinocerebellar ataxias	91.34	18	7925830 (2), 10374379 (2), 9801928 (1), 15893665 (1) (see all 13)
drpla	85.56	25	9613852 (4), 9109985 (3), 12500681 (2), 10453742 (2) (see all 11)
sca12	85.20	8	11914409 (1), 19235102 (1), 17420317 (1)
ataxias hereditary	81.91	5	17420317 (1)
sca17	81.41	10	17650485 (2), 19235102 (2), 17420317 (1)
machado-joseph disease	80.27	12	7952848 (1), 9109985 (1), 9613852 (1), 17420317 (1) (see all 7)
spinocerebellar degenerations	79.70	6	17557114 (1), 17110325 (1), 9046258 (1), 7543989 (1)
neurodegenerative diseases	78.78	27	7614095 (2), 9353121 (2), 17599952 (1), 14583607 (1) (see all 17)
neurodegeneration	66.59	11	12757707 (2), 17599952 (1), 7614095 (1), 9353121 (1) (see all 9)

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GeneTests: ATXN1

Spinocerebellar Ataxia Type 1

Human Gene Mutation Database: ATXN1
Genetic Association Database: ATXN1
Human Genome Epidemiology Navigator: ATXN1 (14 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/161 PubMed articles for ATXN1 gene (see all 161 ):

The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. (PubMed id 9353121)^{1, 3, 4} Matilla A....Zoghbi H.Y. (1997)
Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. (PubMed id 11001934)^{1, 3, 4} Davidson J.D....Orr H.T. (2000)
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PubMed id 15148151)^{1, 3, 6} Brusco A....Taroni F. (2004)
A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. (PubMed id 8634720)^{1, 3, 4} Quan F.... Popovich B.W. (1995)
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)^{3, 4} Lim J....Zoghbi H.Y. (2006)
CAG repeats in Restless Legs syndrome. (PubMed id 16389595)^{3, 6} Konieczny M....Schols L. (2006)
Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. (PubMed id 16121196)^{3, 4} Mizutani A....Tsai C.C. (2005)
Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. (PubMed id 16380905)^{3, 6} Fallin M.D....Pulver A.E. (2005)
No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3. (PubMed id 15167689)^{3, 6} Hellenbroich Y....Zuhlke C. (2004)
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. (PubMed id 14756671)^{3, 6} Wu Y.R....Lee-Chen G.J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 6310	HGNC: 10548	AceView: ATXN1	Ensembl:ENSG00000124788	euGenes: HUgn6310
ECgene: ATXN1	H-InvDB: ATXN1

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=ATXN1
Wikipedia	http://en.wikipedia.org/wiki/Ataxin_1

Licensable Technologies for ATXN1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ATXN1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ATXN1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ATXN1		Antibodies for ATXN1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ATXN1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (ATXN1)
	Antibodies (ATXN1)
	Chimera RNAi (ATXN1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for ATXN1 (Ataxin-1)

	Recombinant Proteins (Ataxin 1)
	Antibodies (Ataxin 1)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for ATXN1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ATXN1

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
ATXN1 Gene at Home site.
Version 2.41.1
server5.xennexinc.com

ATXN1 Gene

protein-coding GIFtS: 62

Aliases &
Descriptions
for ATXN1

Summaries
for ATXN1

Genomic Location
for ATXN1

Proteins
for ATXN1

Protein Domains/
Families
for ATXN1

Gene Function
for ATXN1

Pathways & Interactions
for ATXN1

Drugs & Compounds
for ATXN1

Transcripts
for ATXN1

Expression
for ATXN1

Orthologs
for ATXN1

Paralogs
for ATXN1

SNPs/Variants
for ATXN1

Disorders & Mutations
for ATXN1

Medical News
for ATXN1

Publications
for ATXN1

Search for ATXN1

Genome Databases showing ATXN1

Other Databases showing ATXN1

Specialized Databases showing ATXN1

Licensable Technologies
for ATXN1

Services
for ATXN1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ATXN1 Gene

protein-coding GIFtS: 62

Aliases & Descriptionsfor ATXN1

Summariesfor ATXN1

Genomic Locationfor ATXN1

Proteinsfor ATXN1

Protein Domains/Familiesfor ATXN1

Gene Functionfor ATXN1

Pathways & Interactionsfor ATXN1

Drugs & Compoundsfor ATXN1

Transcriptsfor ATXN1

Expression for ATXN1

Orthologsfor ATXN1

Paralogsfor ATXN1

SNPs/Variantsfor ATXN1

Disorders & Mutationsfor ATXN1

Medical Newsfor ATXN1

Publicationsfor ATXN1

Search for ATXN1

Genome Databases showing ATXN1

Other Databases showing ATXN1

Specialized Databases showing ATXN1

Licensable Technologiesfor ATXN1

Servicesfor ATXN1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ATXN1

Summaries
for ATXN1

Genomic Location
for ATXN1

Proteins
for ATXN1

Protein Domains/
Families
for ATXN1

Gene Function
for ATXN1

Pathways & Interactions
for ATXN1

Drugs & Compounds
for ATXN1

Transcripts
for ATXN1

Expression
for ATXN1

Orthologs
for ATXN1

Paralogs
for ATXN1

SNPs/Variants
for ATXN1

Disorders & Mutations
for ATXN1

Medical News
for ATXN1

Publications
for ATXN1

Licensable Technologies
for ATXN1

Services
for ATXN1