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HUMAN:ATX1

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) ATXN1 (synonyms: ATX1, SCA1)
Protein Name(s) Ataxin-1

Spinocerebellar ataxia type 1 protein

External Links
UniProt P54253
EMBL X79204
AL009031
BC117125
S82497
CCDS CCDS34342.1
PIR S46268
RefSeq NP_000323.2
NP_001121636.1
UniGene Hs.434961
PDB 1OA8
2M41
4APT
4AQP
4J2J
4J2L
PDBsum 1OA8
2M41
4APT
4AQP
4J2J
4J2L
ProteinModelPortal P54253
SMR P54253
BioGrid 112217
DIP DIP-35353N
IntAct P54253
MINT MINT-266093
STRING 9606.ENSP00000244769
PhosphoSite P54253
DMDM 206729854
MaxQB P54253
PaxDb P54253
PRIDE P54253
Ensembl ENST00000244769
ENST00000436367
GeneID 6310
KEGG hsa:6310
UCSC uc003nbt.3
CTD 6310
GeneCards GC06M016299
GeneReviews ATXN1
H-InvDB HIX0032878
HGNC HGNC:10548
HPA HPA008335
MIM 164400
601556
neXtProt NX_P54253
Orphanet 98755
PharmGKB PA34958
eggNOG NOG306883
GeneTree ENSGT00390000005939
HOGENOM HOG000034225
HOVERGEN HBG004319
InParanoid P54253
OMA HRSYALS
OrthoDB EOG7SBNQX
PhylomeDB P54253
TreeFam TF350643
ChiTaRS ATXN1
EvolutionaryTrace P54253
GeneWiki Ataxin_1
GenomeRNAi 6310
NextBio 24497
PRO PR:P54253
Proteomes UP000005640
Bgee P54253
CleanEx HS_ATXN1
ExpressionAtlas P54253
Genevestigator P54253
GO GO:0005737
GO:0043231
GO:0042405
GO:0016363
GO:0005654
GO:0005634
GO:0003677
GO:0042802
GO:0034046
GO:0008266
GO:0008022
GO:0043621
GO:0008344
GO:0043569
GO:0042326
GO:0045892
GO:0051168
GO:0045944
GO:0060079
GO:0006396
GO:0006351
GO:0008542
InterPro IPR013723
IPR003652
IPR020997
Pfam PF12547
PF08517
SMART SM00536
SUPFAM SSF102031
PROSITE PS51148

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

involved_in

GO:0035176

social behavior

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P54254

P

Seeded From UniProt

complete

involved_in

GO:0007613

memory

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P54254

P

Seeded From UniProt

complete

involved_in

GO:0007612

learning

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P54254

P

Seeded From UniProt

complete

involved_in

GO:0007420

brain development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P54254

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:19208651[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0051168

nuclear export

PMID:15615787[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045892

negative regulation of transcription, DNA-templated

PMID:15016912[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0043621

protein self-association

PMID:9097953[4]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0042405

nuclear inclusion body

PMID:15615787[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0034046

poly(G) binding

PMID:11136710[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0016363

nuclear matrix

PMID:17557114[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0008266

poly(U) RNA binding

PMID:11136710[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0008022

protein C-terminus binding

PMID:15016912[3]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q9Y618

F

Seeded From UniProt

complete

enables

GO:0008022

protein C-terminus binding

PMID:15016912[3]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q9U4I2

F

Seeded From UniProt

complete

enables

GO:0008022

protein C-terminus binding

PMID:12757932[7]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P38432

F

Seeded From UniProt

complete

involved_in

GO:0006396

RNA processing

PMID:15615787[2]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:7647801[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

PMID:12757932[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:7647801[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0048856

anatomical structure development

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0029907
MGI:MGI:104783
MGI:MGI:3694797
PANTHER:PTN002667577

P

Seeded From UniProt

complete

involved_in

GO:0007399

nervous system development

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:104783
MGI:MGI:3694797
PANTHER:PTN000333493

P

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:104783
MGI:MGI:3694797
PANTHER:PTN002667577
UniProtKB:P54253

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:104783
PANTHER:PTN002667577
UniProtKB:P0C7T5
UniProtKB:P54253
ZFIN:ZDB-GENE-060503-759
ZFIN:ZDB-GENE-061218-2

C

Seeded From UniProt

complete

involved_in

GO:0000122

negative regulation of transcription by RNA polymerase II

PMID:21873635[9]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:104783
MGI:MGI:3694797
PANTHER:PTN000333493

P

Seeded From UniProt

complete

part_of

GO:0016363

nuclear matrix

PMID:9353120[10]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:9353120[10]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:25416956[11]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P54253

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:18337722[12]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P54253

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:16713569[13]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P54253

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:15893665[14]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P54253

F

Seeded From UniProt

complete

enables

GO:0042802

identical protein binding

PMID:11001934[15]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P54253

F

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0003723

RNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003652
InterPro:IPR036096

F

Seeded From UniProt

complete

involved_in

GO:0045892

negative regulation of transcription, DNA-templated

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR040172

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

enables

GO:0003723

RNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0694

F

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963
UniProtKB-SubCell:SL-0086

C

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ Parfitt, DA et al. (2009) The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Hum. Mol. Genet. 18 1556-65 PubMed GONUTS page
  2. ↑ 2.0 2.1 2.2 Irwin, S et al. (2005) RNA association and nucleocytoplasmic shuttling by ataxin-1. J. Cell. Sci. 118 233-42 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 Tsai, CC et al. (2004) Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors. Proc. Natl. Acad. Sci. U.S.A. 101 4047-52 PubMed GONUTS page
  4. ↑ Burright, EN et al. (1997) Identification of a self-association region within the SCA1 gene product, ataxin-1. Hum. Mol. Genet. 6 513-8 PubMed GONUTS page
  5. ↑ 5.0 5.1 Yue, S et al. (2001) The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Hum. Mol. Genet. 10 25-30 PubMed GONUTS page
  6. ↑ Cvetanovic, M et al. (2007) The role of LANP and ataxin 1 in E4F-mediated transcriptional repression. EMBO Rep. 8 671-7 PubMed GONUTS page
  7. ↑ 7.0 7.1 Hong, S et al. (2003) p80 coilin, a coiled body-specific protein, interacts with ataxin-1, the SCA1 gene product. Biochim. Biophys. Acta 1638 35-42 PubMed GONUTS page
  8. ↑ 8.0 8.1 Servadio, A et al. (1995) Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat. Genet. 10 94-8 PubMed GONUTS page
  9. ↑ 9.0 9.1 9.2 9.3 9.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  10. ↑ 10.0 10.1 Skinner, PJ et al. (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 389 971-4 PubMed GONUTS page
  11. ↑ Rolland, T et al. (2014) A proteome-scale map of the human interactome network. Cell 159 1212-26 PubMed GONUTS page
  12. ↑ Lim, J et al. (2008) Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature 452 713-8 PubMed GONUTS page
  13. ↑ Lim, J et al. (2006) A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 125 801-14 PubMed GONUTS page
  14. ↑ de Chiara, C et al. (2005) The AXH domain adopts alternative folds the solution structure of HBP1 AXH. Structure 13 743-53 PubMed GONUTS page
  15. ↑ Davidson, JD et al. (2000) Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. Hum. Mol. Genet. 9 2305-12 PubMed GONUTS page
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