UniProtKB - P54253 (ATX1_HUMAN)
Ataxin-1
ATXN1
Functioni
Miscellaneous
GO - Molecular functioni
- DNA binding Source: UniProtKB-KW
- identical protein binding Source: IntAct
- poly(G) binding Source: UniProtKB
- poly(U) RNA binding Source: UniProtKB
- protein C-terminus binding Source: UniProtKB
- protein self-association Source: UniProtKB
GO - Biological processi
- anatomical structure development Source: GO_Central
- brain development Source: UniProtKB
- learning Source: UniProtKB
- memory Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: GO_Central
- nervous system development Source: GO_Central
- nuclear export Source: UniProtKB
- regulation of transcription, DNA-templated Source: GO_Central
- RNA processing Source: UniProtKB
- social behavior Source: UniProtKB
Keywordsi
Molecular function | DNA-binding, Repressor, RNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P54253 |
SIGNORi | P54253 |
Protein family/group databases
MoonDBi | P54253, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: Ataxin-1Alternative name(s): Spinocerebellar ataxia type 1 protein |
Gene namesi | Name:ATXN1 Synonyms:ATX1, SCA1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000124788.17 |
HGNCi | HGNC:10548, ATXN1 |
MIMi | 601556, gene |
neXtProti | NX_P54253 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear inclusion body Source: UniProtKB
- nuclear matrix Source: UniProtKB
- nucleolus Source: HPA
- nucleoplasm Source: UniProtKB
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Spinocerebellar ataxia 1 (SCA1)3 Publications
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 16 | K → R: Sumoylation reduced to 40% of wild-type. 1 Publication | 1 | |
Mutagenesisi | 194 | K → R: Sumoylation reduced to 46% of wild-type. 1 Publication | 1 | |
Mutagenesisi | 420 | K → R: No effect on sumoylation. 1 Publication | 1 | |
Mutagenesisi | 529 | K → R: Sumoylation reduced to 57% of wild-type. 1 Publication | 1 | |
Mutagenesisi | 589 | K → R: Sumoylation reduced to 53% of wild-type. 1 Publication | 1 | |
Mutagenesisi | 594 | K → R: Sumoylation reduced to 68% of wild-type. 1 Publication | 1 | |
Mutagenesisi | 609 | K → R: Sumoylation reduced to 43% of wild-type. 1 Publication | 1 | |
Mutagenesisi | 691 | K → R: No effect on sumoylation. 1 Publication | 1 | |
Mutagenesisi | 696 | K → R: Sumoylation reduced to 42% of wild-type. 1 Publication | 1 | |
Mutagenesisi | 745 | K → R: Sumoylation reduced to 44% of wild-type. 1 Publication | 1 | |
Mutagenesisi | 775 | S → A: Reduces phosphorylation but does not affect nuclear localization. 1 Publication | 1 | |
Mutagenesisi | 784 | K → R: Sumoylation reduced to 62% of wild-type. 1 Publication | 1 |
Keywords - Diseasei
Neurodegeneration, Spinocerebellar ataxiaOrganism-specific databases
DisGeNETi | 6310 |
GeneReviewsi | ATXN1 |
MalaCardsi | ATXN1 |
MIMi | 164400, phenotype |
OpenTargetsi | ENSG00000124788 |
Orphaneti | 98755, Spinocerebellar ataxia type 1 |
PharmGKBi | PA34958 |
Miscellaneous databases
Pharosi | P54253, Tbio |
Polymorphism and mutation databases
BioMutai | ATXN1 |
DMDMi | 206729854 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000064751 | 1 – 815 | Ataxin-1Add BLAST | 815 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 16 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Modified residuei | 82 | PhosphoserineBy similarity | 1 | |
Modified residuei | 88 | PhosphoserineCombined sources | 1 | |
Cross-linki | 194 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Modified residuei | 238 | PhosphoserineCombined sources | 1 | |
Modified residuei | 253 | PhosphoserineBy similarity | 1 | |
Cross-linki | 609 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Cross-linki | 696 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Cross-linki | 745 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Modified residuei | 775 | Phosphoserine1 Publication | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | P54253 |
jPOSTi | P54253 |
MassIVEi | P54253 |
MaxQBi | P54253 |
PaxDbi | P54253 |
PeptideAtlasi | P54253 |
PRIDEi | P54253 |
ProteomicsDBi | 56658 [P54253-1] |
PTM databases
iPTMneti | P54253 |
PhosphoSitePlusi | P54253 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000124788, Expressed in caudate nucleus and 253 other tissues |
ExpressionAtlasi | P54253, baseline and differential |
Genevisiblei | P54253, HS |
Organism-specific databases
HPAi | ENSG00000124788, Low tissue specificity |
Interactioni
Subunit structurei
Homooligomer (PubMed:9097953).
Interacts with CIC (By similarity).
Interacts with ANP32A, PQBP1, UBQLN4, ATXN1L and USP7 (PubMed:9353121, PubMed:11001934, PubMed:12062018, PubMed:12093161, PubMed:16121196). Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1L for RBPJ-binding (PubMed:21475249).
Found in a complex with CIC and ATXN1L (By similarity).
By similarity8 PublicationsBinary interactionsi
P54253
Isoform 1 [P54253-1]
With | #Exp. | IntAct |
---|---|---|
COIL [P38432] | 6 | EBI-930975,EBI-945751 |
GO - Molecular functioni
- identical protein binding Source: IntAct
- protein C-terminus binding Source: UniProtKB
- protein self-association Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 112217, 353 interactors |
CORUMi | P54253 |
DIPi | DIP-35353N |
IntActi | P54253, 333 interactors |
MINTi | P54253 |
STRINGi | 9606.ENSP00000244769 |
Chemistry databases
BindingDBi | P54253 |
Miscellaneous databases
RNActi | P54253, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P54253 |
SMRi | P54253 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P54253 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 562 – 693 | AXHPROSITE-ProRule annotationAdd BLAST | 132 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 494 – 604 | Self-association1 PublicationAdd BLAST | 111 | |
Regioni | 538 – 815 | Interaction with USP71 PublicationAdd BLAST | 278 | |
Regioni | 540 – 766 | RNA-binding1 PublicationAdd BLAST | 227 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 794 – 797 | Nuclear localization signalBy similarity | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 197 – 225 | Poly-GlnAdd BLAST | 29 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG4053, Eukaryota |
GeneTreei | ENSGT00390000005939 |
HOGENOMi | CLU_019983_0_0_1 |
InParanoidi | P54253 |
OMAi | ELPCTKL |
PhylomeDBi | P54253 |
TreeFami | TF350643 |
Family and domain databases
InterProi | View protein in InterPro IPR043404, ATAXIN1-like IPR003652, Ataxin_AXH_dom IPR036096, Ataxin_AXH_dom_sf IPR040172, ATXN1 |
PANTHERi | PTHR13392, PTHR13392, 1 hit PTHR13392:SF5, PTHR13392:SF5, 1 hit |
Pfami | View protein in Pfam PF08517, AXH, 1 hit |
SMARTi | View protein in SMART SM00536, AXH, 1 hit |
SUPFAMi | SSF102031, SSF102031, 1 hit |
PROSITEi | View protein in PROSITE PS51148, AXH, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry describes 1 produced by isoform ialternative splicing. AlignAdd to basketThis entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKSNQERSNE CLPPKKREIP ATSRSSEEKA PTLPSDNHRV EGTAWLPGNP
60 70 80 90 100
GGRGHGGGRH GPAGTSVELG LQQGIGLHKA LSTGLDYSPP SAPRSVPVAT
110 120 130 140 150
TLPAAYATPQ PGTPVSPVQY AHLPHTFQFI GSSQYSGTYA SFIPSQLIPP
160 170 180 190 200
TANPVTSAVA SAAGATTPSQ RSQLEAYSTL LANMGSLSQT PGHKAEQQQQ
210 220 230 240 250
QQQQQQQQHQ HQQQQQQQQQ QQQQQHLSRA PGLITPGSPP PAQQNQYVHI
260 270 280 290 300
SSSPQNTGRT ASPPAIPVHL HPHQTMIPHT LTLGPPSQVV MQYADSGSHF
310 320 330 340 350
VPREATKKAE SSRLQQAIQA KEVLNGEMEK SRRYGAPSSA DLGLGKAGGK
360 370 380 390 400
SVPHPYESRH VVVHPSPSDY SSRDPSGVRA SVMVLPNSNT PAADLEVQQA
410 420 430 440 450
THREASPSTL NDKSGLHLGK PGHRSYALSP HTVIQTTHSA SEPLPVGLPA
460 470 480 490 500
TAFYAGTQPP VIGYLSGQQQ AITYAGSLPQ HLVIPGTQPL LIPVGSTDME
510 520 530 540 550
ASGAAPAIVT SSPQFAAVPH TFVTTALPKS ENFNPEALVT QAAYPAMVQA
560 570 580 590 600
QIHLPVVQSV ASPAAAPPTL PPYFMKGSII QLANGELKKV EDLKTEDFIQ
610 620 630 640 650
SAEISNDLKI DSSTVERIED SHSPGVAVIQ FAVGEHRAQV SVEVLVEYPF
660 670 680 690 700
FVFGQGWSSC CPERTSQLFD LPCSKLSVGD VCISLTLKNL KNGSVKKGQP
710 720 730 740 750
VDPASVLLKH SKADGLAGSR HRYAEQENGI NQGSAQMLSE NGELKFPEKM
760 770 780 790 800
GLPAAPFLTK IEPSKPAATR KRRWSAPESR KLEKSEDEPP LTLPKPSLIP
810
QEVKICIEGR SNVGK
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8YCF3 | A0A2R8YCF3_HUMAN | Ataxin-1 | ATXN1 | 185 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 211 | H → HQ in CAA55793 (PubMed:7951322).Curated | 1 |
Polymorphismi
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046616 | 209 | H → Q. Corresponds to variant dbSNP:rs11969612Ensembl. | 1 | |
Natural variantiVAR_046617 | 753 | P → S. Corresponds to variant dbSNP:rs16885EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X79204 mRNA Translation: CAA55793.1 AL009031 Genomic DNA No translation available. BC117125 mRNA Translation: AAI17126.1 S82497 Genomic DNA Translation: AAD14401.1 |
CCDSi | CCDS34342.1 [P54253-1] |
PIRi | S46268 |
RefSeqi | NP_000323.2, NM_000332.3 [P54253-1] NP_001121636.1, NM_001128164.1 [P54253-1] |
Genome annotation databases
Ensembli | ENST00000244769; ENSP00000244769; ENSG00000124788 [P54253-1] ENST00000436367; ENSP00000416360; ENSG00000124788 [P54253-1] |
GeneIDi | 6310 |
KEGGi | hsa:6310 |
UCSCi | uc003nbt.4, human [P54253-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Polymorphism, Triplet repeat expansionSimilar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia Ataxin-1 entry |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X79204 mRNA Translation: CAA55793.1 AL009031 Genomic DNA No translation available. BC117125 mRNA Translation: AAI17126.1 S82497 Genomic DNA Translation: AAD14401.1 |
CCDSi | CCDS34342.1 [P54253-1] |
PIRi | S46268 |
RefSeqi | NP_000323.2, NM_000332.3 [P54253-1] NP_001121636.1, NM_001128164.1 [P54253-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1OA8 | X-ray | 1.70 | A/B/C/D | 562-693 | [»] | |
2M41 | NMR | - | B | 566-688 | [»] | |
4APT | X-ray | 2.50 | A/B/C/D | 566-688 | [»] | |
4AQP | X-ray | 2.45 | A/B/C/D | 566-688 | [»] | |
4J2J | X-ray | 2.50 | A/B/C | 562-688 | [»] | |
4J2L | X-ray | 3.15 | A/B | 562-688 | [»] | |
6QIU | X-ray | 1.80 | P | 771-780 | [»] | |
BMRBi | P54253 | |||||
SMRi | P54253 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112217, 353 interactors |
CORUMi | P54253 |
DIPi | DIP-35353N |
IntActi | P54253, 333 interactors |
MINTi | P54253 |
STRINGi | 9606.ENSP00000244769 |
Chemistry databases
BindingDBi | P54253 |
Protein family/group databases
MoonDBi | P54253, Predicted |
PTM databases
iPTMneti | P54253 |
PhosphoSitePlusi | P54253 |
Polymorphism and mutation databases
BioMutai | ATXN1 |
DMDMi | 206729854 |
Proteomic databases
EPDi | P54253 |
jPOSTi | P54253 |
MassIVEi | P54253 |
MaxQBi | P54253 |
PaxDbi | P54253 |
PeptideAtlasi | P54253 |
PRIDEi | P54253 |
ProteomicsDBi | 56658 [P54253-1] |
Protocols and materials databases
ABCDi | P54253, 2 sequenced antibodies |
Antibodypediai | 1922, 802 antibodies |
Genome annotation databases
Ensembli | ENST00000244769; ENSP00000244769; ENSG00000124788 [P54253-1] ENST00000436367; ENSP00000416360; ENSG00000124788 [P54253-1] |
GeneIDi | 6310 |
KEGGi | hsa:6310 |
UCSCi | uc003nbt.4, human [P54253-1] |
Organism-specific databases
CTDi | 6310 |
DisGeNETi | 6310 |
EuPathDBi | HostDB:ENSG00000124788.17 |
GeneCardsi | ATXN1 |
GeneReviewsi | ATXN1 |
HGNCi | HGNC:10548, ATXN1 |
HPAi | ENSG00000124788, Low tissue specificity |
MalaCardsi | ATXN1 |
MIMi | 164400, phenotype 601556, gene |
neXtProti | NX_P54253 |
OpenTargetsi | ENSG00000124788 |
Orphaneti | 98755, Spinocerebellar ataxia type 1 |
PharmGKBi | PA34958 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4053, Eukaryota |
GeneTreei | ENSGT00390000005939 |
HOGENOMi | CLU_019983_0_0_1 |
InParanoidi | P54253 |
OMAi | ELPCTKL |
PhylomeDBi | P54253 |
TreeFami | TF350643 |
Enzyme and pathway databases
PathwayCommonsi | P54253 |
SIGNORi | P54253 |
Miscellaneous databases
BioGRID-ORCSi | 6310, 18 hits in 847 CRISPR screens |
ChiTaRSi | ATXN1, human |
EvolutionaryTracei | P54253 |
GeneWikii | Ataxin_1 |
GenomeRNAii | 6310 |
Pharosi | P54253, Tbio |
PROi | PR:P54253 |
RNActi | P54253, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000124788, Expressed in caudate nucleus and 253 other tissues |
ExpressionAtlasi | P54253, baseline and differential |
Genevisiblei | P54253, HS |
Family and domain databases
InterProi | View protein in InterPro IPR043404, ATAXIN1-like IPR003652, Ataxin_AXH_dom IPR036096, Ataxin_AXH_dom_sf IPR040172, ATXN1 |
PANTHERi | PTHR13392, PTHR13392, 1 hit PTHR13392:SF5, PTHR13392:SF5, 1 hit |
Pfami | View protein in Pfam PF08517, AXH, 1 hit |
SMARTi | View protein in SMART SM00536, AXH, 1 hit |
SUPFAMi | SSF102031, SSF102031, 1 hit |
PROSITEi | View protein in PROSITE PS51148, AXH, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ATX1_HUMAN | |
Accessioni | P54253Primary (citable) accession number: P54253 Secondary accession number(s): Q17S02, Q9UJG2, Q9Y4J1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | September 23, 2008 | |
Last modified: | December 2, 2020 | |
This is version 199 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations