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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spinocerebellar ataxia type 1 Pathogenic rs193922926 RCV000008537
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 10982193
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 17339181
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25359683
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 15523922
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 20308783, 22486522 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 22486522
★☆☆☆☆
Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED Amyloidosis BEFREE 15523922
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 23197749, 29274668
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 35525134, 35869263 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis BEFREE 29428949
★☆☆☆☆
Found in Text Mining only