Gene Gene information from NCBI Gene database.
Entrez ID 6310
Gene name Ataxin 1
Gene symbol ATXN1
Synonyms (NCBI Gene)
ATX1D6S504ESCA1
Chromosome 6
Chromosome location 6p22.3
Summary 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 ty
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs193922926 GCTGCTGCTGCTGCTGCTGCTGCTGCTGCT>-,GCT,GCTGCT,GCTGCTGCT,GCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,GCTGCTGCTGCTGCTGCTGC Benign, uncertain-significance, pathogenic, likely-benign Coding sequence variant, inframe insertion, 3 prime UTR variant, inframe deletion, terminator codon variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1026
miRTarBase ID miRNA Experiments Reference
MIRT005007 hsa-miR-125b-5p Microarray 17891175
MIRT000379 hsa-miR-101-3p Luciferase reporter assayqRT-PCRWestern blot 18758459
MIRT003782 hsa-miR-130a-3p Luciferase reporter assayqRT-PCRWestern blot 18758459
MIRT003781 hsa-miR-19a-3p Luciferase reporter assayqRT-PCRWestern blot 18758459
MIRT003780 hsa-miR-19b-3p Luciferase reporter assayqRT-PCRWestern blot 18758459
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0003677 Function DNA binding IEA
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601556 10548 ENSG00000124788
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54253
Protein name Ataxin-1 (Spinocerebellar ataxia type 1 protein)
Protein function 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 b
PDB 1OA8 , 2M41 , 4APT , 4AQP , 4J2J , 4J2L , 6QIU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08517 AXH 574 687 Ataxin-1 and HBP1 module (AXH) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed throughout the body. {ECO:0000269|PubMed:12062018}.
Sequence
MKSNQERSNECLPPKKREIPATSRSSEEKAPTLPSDNHRVEGTAWLPGNPGGRGHGGGRH
GPAGTSVELGLQQGIGLHKALSTGLDYSPPSAPRSVPVATTLPAAYATPQPGTPVSPVQY
AHLPHTFQFIGSSQYSGTYASFIPSQLIPPTANPVTSAVASAAGATTPSQRSQLEAYSTL
LANMGSLSQTPGHKAEQQQQQQQQQQQQHQHQQQQQQQQQQQQQQHLSRAPGLITPGSPP
PAQQNQYVHISSSPQNTGRTASPPAIPVHLHPHQTMIPHTLTLGPPSQVVMQYADSGSHF
VPREATKKAESSRLQQAIQAKEVLNGEMEKSRRYGAPSSADLGLGKAGGKSVPHPYESRH
VVVHPSPSDYSSRDPSGVRASVMVLPNSNTPAADLEVQQATHREASPSTLNDKSGLHLGK
PGHRSYALSPHTVIQTTHSASEPLPVGLPATAFYAGTQPPVIGYLSGQQQAITYAGSLPQ
HLVIPGTQPLLIPVGSTDMEASGAAPAIVTSSPQFAAVPHTFVTTALPKSENFNPEALVT
QAAYPAMVQAQIHLPVVQSVASPAAAPPTLPPYFMKGSIIQLANGELKKVEDLKTEDFIQ
SAEISNDLKIDSSTVERIEDSHSPGVAVIQFAVGEHRAQVSVEVLVEYPFFVFGQGWSSC
CPERTSQLFDLPCSKLSVGDVCISLTL
KNLKNGSVKKGQPVDPASVLLKHSKADGLAGSR
HRYAEQENGINQGSAQMLSENGELKFPEKMGLPAAPFLTKIEPSKPAATRKRRWSAPESR
KLEKSEDEPPLTLPKPSLIPQEVKICIEGRSNVGK
Sequence length 815
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Notch signaling pathway
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spinocerebellar ataxia type 1 Pathogenic rs193922926 RCV000008537
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ATXN1-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance rs11969612, rs751421308, rs112175378, rs193922926, rs148490141, rs555394805, rs201987168, rs771255360, rs34324423, rs766029394, rs144411643, rs754100060, rs139148755, rs539283031, rs749872352
View all (6 more)
RCV003973219
RCV003966209
RCV003921352
RCV003974128
RCV003982939
RCV003977554
RCV003963730
RCV003974334
RCV003904234
RCV003964580
RCV003892311
RCV003914179
RCV003984593
RCV003904768
RCV003959593
RCV003927270
RCV003949870
RCV003939379
RCV003949520
RCV003949533
RCV003956964
RCV003971404
RCV003932221
RCV003981308
RCV003919808
RCV003980212
RCV003908443
Malignant lymphoma, large B-cell, diffuse Likely benign rs2075974 RCV005887976
Schizophrenia Uncertain significance rs2480753417 RCV002463487
Squamous cell carcinoma of the head and neck Likely benign rs2075974 RCV005887975
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 23294540
Alzheimer Disease Associate 20308783, 22486522
Amyotrophic Lateral Sclerosis Associate 35525134, 35869263
Anxiety Associate 37029353
Ataxia Associate 23935513, 37592453, 8037204
Attention Deficit Disorder with Hyperactivity Associate 21302343
Breast Neoplasms Associate 28212558, 32420379
Carcinogenesis Associate 28212558
Central Nervous System Neoplasms Associate 35836290
Cerebellar Ataxia Associate 22520093, 7922453