Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6310
Gene name Gene Name - the full gene name approved by the HGNC.
Ataxin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATXN1
Synonyms (NCBI Gene) Gene synonyms aliases
ATX1, D6S504E, SCA1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005007 hsa-miR-125b-5p Microarray 17891175
MIRT000379 hsa-miR-101-3p Luciferase reporter assay, qRT-PCR, Western blot 18758459
MIRT003782 hsa-miR-130a-3p Luciferase reporter assay, qRT-PCR, Western blot 18758459
MIRT003781 hsa-miR-19a-3p Luciferase reporter assay, qRT-PCR, Western blot 18758459
MIRT003780 hsa-miR-19b-3p Luciferase reporter assay, qRT-PCR, Western blot 18758459
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601556 10548 ENSG00000124788
Protein
UniProt ID 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
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spinocerebellar Ataxia spinocerebellar ataxia type 1 rs193922926 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Dyslexia Dyslexia N/A N/A GWAS
Associations from Text Mining Disease 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