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ataxin 7

Summary

Gene Symbol

ATXN7

Organism

Homo sapiens (human)

External Links

NCBI Gene

6314

PubChem

6314

Alliance of Genome Resources

HGNC:10560

Annotation

Keyword

3D-structure
Alternative splicing
Cytoskeleton
Disease variant
Isopeptide bond
Nucleus
Reference proteome
Spinocerebellar ataxia
Transcription regulation
Triplet repeat expansion
Ubl conjugation

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q9UPD8
O15265	Spinocerebellar ataxia type 7 protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 9 in total

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2

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GO Term	Evidence Code	PMID
microtubule cytoskeleton organization	IMP	22100762
regulation of DNA repair	NAS	11406595 11564863
regulation of transcription by RNA polymerase II	IDA	9603525
nucleus organization	TAS	10441328
negative regulation of microtubule depolymerization	IMP	22100762

GO Hierarchy

biological process

cellular process [inference]

microtubule-based process [inference]

microtubule cytoskeleton organization

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

nucleus organization

cytoskeleton organization [inference]

microtubule cytoskeleton organization

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of light stimulus [inference]

visual perception

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

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 RNA splicing

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nitrogen compound metabolic process [inference]

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of DNA metabolic process [inference]

regulation of DNA repair

regulation of RNA metabolic process [inference]

regulation of RNA splicing

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

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 RNA splicing

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of DNA metabolic process [inference]

regulation of DNA repair

regulation of RNA metabolic process [inference]

regulation of RNA splicing

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nitrogen compound metabolic process [inference]

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

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 RNA splicing

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of DNA metabolic process [inference]

regulation of DNA repair

regulation of RNA metabolic process [inference]

regulation of RNA splicing

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of DNA metabolic process [inference]

regulation of DNA repair

regulation of RNA metabolic process [inference]

regulation of RNA splicing

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of nitrogen compound metabolic process [inference]

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cellular component organization [inference]

negative regulation of organelle organization [inference]

negative regulation of cytoskeleton organization [inference]

negative regulation of microtubule polymerization or depolymerization [inference]

negative regulation of microtubule depolymerization

negative regulation of protein-containing complex disassembly [inference]

negative regulation of protein depolymerization [inference]

negative regulation of microtubule depolymerization

negative regulation of supramolecular fiber organization [inference]

negative regulation of microtubule depolymerization

regulation of response to stimulus [inference]

regulation of response to stress [inference]

regulation of cellular response to stress [inference]

regulation of DNA repair

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of DNA metabolic process [inference]

regulation of DNA repair

regulation of RNA metabolic process [inference]

regulation of RNA splicing

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

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 RNA splicing

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

regulation of microtubule-based process [inference]

regulation of microtubule cytoskeleton organization [inference]

regulation of microtubule polymerization or depolymerization [inference]

negative regulation of microtubule polymerization or depolymerization [inference]

negative regulation of microtubule depolymerization

regulation of microtubule depolymerization [inference]

negative regulation of microtubule depolymerization

positive regulation of cellular process [inference]

positive regulation of cellular metabolic process [inference]

positive regulation of cellular biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

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

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of transcription, DNA-templated

negative regulation of cellular process [inference]

negative regulation of cellular component organization [inference]

negative regulation of organelle organization [inference]

negative regulation of cytoskeleton organization [inference]

negative regulation of microtubule polymerization or depolymerization [inference]

negative regulation of microtubule depolymerization

negative regulation of protein-containing complex disassembly [inference]

negative regulation of protein depolymerization [inference]

negative regulation of microtubule depolymerization

negative regulation of supramolecular fiber organization [inference]

negative regulation of microtubule depolymerization

regulation of cellular component organization [inference]

regulation of organelle organization [inference]

negative regulation of organelle organization [inference]

negative regulation of cytoskeleton organization [inference]

negative regulation of microtubule polymerization or depolymerization [inference]

negative regulation of microtubule depolymerization

regulation of cytoskeleton organization [inference]

negative regulation of cytoskeleton organization [inference]

negative regulation of microtubule polymerization or depolymerization [inference]

negative regulation of microtubule depolymerization

regulation of microtubule cytoskeleton organization [inference]

regulation of microtubule polymerization or depolymerization [inference]

negative regulation of microtubule polymerization or depolymerization [inference]

negative regulation of microtubule depolymerization

regulation of microtubule depolymerization [inference]

negative regulation of microtubule depolymerization

regulation of protein-containing complex disassembly [inference]

negative regulation of protein-containing complex disassembly [inference]

negative regulation of protein depolymerization [inference]

negative regulation of microtubule depolymerization

regulation of protein depolymerization [inference]

regulation of microtubule depolymerization [inference]

negative regulation of microtubule depolymerization

negative regulation of protein depolymerization [inference]

negative regulation of microtubule depolymerization

negative regulation of cellular component organization [inference]

negative regulation of organelle organization [inference]

negative regulation of cytoskeleton organization [inference]

negative regulation of microtubule polymerization or depolymerization [inference]

negative regulation of microtubule depolymerization

negative regulation of protein-containing complex disassembly [inference]

negative regulation of protein depolymerization [inference]

negative regulation of microtubule depolymerization

negative regulation of supramolecular fiber organization [inference]

negative regulation of microtubule depolymerization

regulation of supramolecular fiber organization [inference]

regulation of microtubule depolymerization [inference]

negative regulation of microtubule depolymerization

negative regulation of supramolecular fiber organization [inference]

negative regulation of microtubule depolymerization

regulation of cellular response to stress [inference]

regulation of DNA repair

Displaying entries **6 - 9** of 9 in total

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GO Term	Evidence Code	PMID
cytosol	IDA
microtubule cytoskeleton	IDA	22100762
nuclear matrix	IEA
transcription factor TFTC complex	NAS	10373431

GO Hierarchy

cellular component

protein-containing complex [inference]

transcription regulator complex [inference]

RNA polymerase II transcription regulator complex [inference]

transcription factor TFTC complex

nuclear protein-containing complex [inference]

RNA polymerase II transcription regulator complex [inference]

transcription factor TFTC complex

intracellular protein-containing complex [inference]

protein acetyltransferase complex [inference]

histone acetyltransferase complex [inference]

SAGA-type complex [inference]

catalytic complex [inference]

peptidase complex [inference]

SAGA complex

transferase complex [inference]

acetyltransferase complex [inference]

protein acetyltransferase complex [inference]

histone acetyltransferase complex [inference]

SAGA-type complex [inference]

cellular anatomical entity [inference]

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

nucleolus

cytoskeleton [inference]

microtubule cytoskeleton

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular non-membrane-bounded organelle [inference]

nucleolus

cytoskeleton [inference]

microtubule cytoskeleton

Displaying 1 entry
GO Term	Evidence Code	PMID
protein binding	IPI	11371513 15115762 20634802 21078624 23892081 24981860 35271311

GO Hierarchy

molecular function

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

ataxin-7

Functional Category

J: Translation, ribosomal structure and biogenesis
K: Transcription
T: Signal transduction mechanisms

Displaying **all 4** entries
Gene Ontology
cerebellar Purkinje cell differentiation
cerebellar granule cell differentiation
chordate embryonic development
retina morphogenesis in camera-type eye

Displaying 1 entry
InterPro
SCA7 domain

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0050958	spinocerebellar ataxia type 7	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 86 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	6314	Xenbase:XB-GENE-956283
Mus musculus	246103	Xenbase:XB-GENE-956283	MOUSE14821
Rattus norvegicus	361015		RATNO09466
Pan troglodytes	465220		PANTR31496
Canis lupus familiaris	484701		CANLF07370
Bos taurus	536833		BOVIN17557
Macaca mulatta	701512		MACMU29211
Danio rerio	100001490		DANRE02066
Monodelphis domestica	100011267		MONDO30076
Ornithorhynchus anatinus	100093478		ORNAN28156

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements