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MIRAGE

ataxin 1

Summary

Gene Symbol

ATXN1

Organism

Homo sapiens (human)

External Links

NCBI Gene

6310

PubChem

6310

Alliance of Genome Resources

HGNC:10548

JoGo

ATXN1

TogoVar

ATXN1

Annotation

Keyword

3D-structure
Alternative splicing
Cytoplasm
DNA-binding
Isopeptide bond
Nucleus
Phosphoprotein
Proteomics identification
RNA-binding
Reference proteome
Repressor
Spinocerebellar ataxia
Transcription regulation
Triplet repeat expansion
Ubl conjugation

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q96FF1
A0A2R8YCF3
P54253	Spinocerebellar ataxia type 1 protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
negative regulation of transcription by RNA polymerase II	IBA
RNA processing	NAS	15615787
brain development	ISS
brain development	IBA
learning	ISS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing

cellular process [inference]

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing

cellular localization [inference]

intracellular transport [inference]

nuclear transport [inference]

nucleocytoplasmic transport [inference]

nuclear export

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

cognition [inference]

learning or memory [inference]

behavior [inference]

learning or memory [inference]

social behavior

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

brain development

localization [inference]

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

nuclear transport [inference]

nucleocytoplasmic transport [inference]

nuclear export

establishment of localization in cell [inference]

intracellular transport [inference]

nuclear transport [inference]

nucleocytoplasmic transport [inference]

nuclear export

cellular localization [inference]

intracellular transport [inference]

nuclear transport [inference]

nucleocytoplasmic transport [inference]

nuclear export

biological process involved in intraspecies interaction between organisms [inference]

social behavior

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription

negative regulation of transcription by RNA polymerase II

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
nucleus	IDA	19208651 7647801 9353120
nucleus	IBA
nucleoplasm	IDA	12757932
nucleolus	IDA
cytoplasm	IDA	7647801

GO Hierarchy

cellular component

cellular anatomical entity [inference]

intracellular anatomical structure [inference]

inclusion body [inference]

nuclear inclusion body

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

nucleolus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular non-membrane-bounded organelle [inference]

nucleolus

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
DNA binding	IEA
chromatin binding	IBA
RNA binding	IBA
protein binding	IPI	11001934 12093161 12757932 15016912 16713569 17110330 17557114 18337722 20037628 21475249 23275563 23414517 25416956 25959826 28514442 32296183 32814053 33961781 35140242 35271311 36931259
poly(U) RNA binding	IDA	11136710

GO Hierarchy

molecular function

binding [inference]

protein binding

identical protein binding

protein-containing complex binding [inference]

chromatin binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

DNA binding

single-stranded RNA binding [inference]

poly-pyrimidine tract binding [inference]

poly(U) RNA binding

poly-purine tract binding [inference]

poly(G) binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

ataxin-1

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
nervous system development

Displaying **all 4** entries
InterPro
ATAXIN1-like
Ataxin, AXH domain superfamily
Ataxin, AXH domain
Ataxin-1, N-terminal

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0050954	spinocerebellar ataxia type 1	Alliance of Genome Resources

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Last updated: April 6, 2026