Atxn7 ataxin 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atxn7provided by MGI
Official Full Name: ataxin 7provided by MGI
Primary source: MGI:MGI:2179277
See related: Ensembl:ENSMUSG00000021738 AllianceGenome:MGI:2179277
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sca7; ataxin-7; A430107N12Rik
Summary: Enables chromatin binding activity. Acts upstream of or within negative regulation of insulin-like growth factor receptor signaling pathway; negative regulation of phosphorylation; and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; peripheral nervous system; and retina. Used to study spinocerebellar ataxia type 7. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 7. Orthologous to human ATXN7 (ataxin 7). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lung adult (RPKM 4.5), bladder adult (RPKM 4.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 A1; 14 7.08 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_04	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (8358367..8508324, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (13961283..14107316)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy.
Title: Polyglutamine-expanded ATXN7 alters a specific epigenetic signature underlying photoreceptor identity gene expression in SCA7 mouse retinopathy.
This study demonstrated that Atxn7-overexpressing mice showed hyperactivity and impulsivity.
Title: The Atxn7-overexpressing mice showed hyperactivity and impulsivity which were ameliorated by atomoxetine treatment: A possible animal model of the hyperactive-impulsive phenotype of ADHD.
Spleen-specific isoform of Pax5 and Ataxin-7 can be considered as spleen-specific unique molecular markers for the evaluation of splenomegaly and lympho-proliferative disorders.
Title: Spleen-specific isoforms of Pax5 and Ataxin-7 as potential proteomic markers of lymphoma-affected spleen.
Results suggest that sequestration of both enzymatic centers in SAGA upon ATXN7 poly(Q) expansion likely contributes to spinocerebellar ataxia type 7 development and progression.
Title: Poly(Q) Expansions in ATXN7 Affect Solubility but Not Activity of the SAGA Deubiquitinating Module.
we found that HDAC3 increased the posttranslational modification of normal and expanded ataxin-7.
Title: Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model.
These results demonstrate that suppression of mutant ataxin-7 expression by only 50% in a polyQ disease model can have a significant impact on disease phenotypes, even when initiated after the onset of detectable behavioral deficits
Title: Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.
findings demonstrate that loss of Gcn5 functions can contribute to the time of onset and severity of SCA7 phenotypes, and suggest that non-transcriptional functions of SAGA may play a role in neurodegeneration in this disease
Title: Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model.
Ataxin-7 gene expression is governed by an antisense ncRNA transcript, SCAANT1, within the ataxin-7 repeat region where the CTCF binding sites reside, which regulates a previously unrecognized ataxin-7 sense promoter by convergent transcription.
Title: CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA.
polyglutamine-expanded ataxin-7 upregulates the expression of Bax and Puma and causes apoptotic neuronal death by enhancing phosphorylation and transcriptional activity of p53.
Title: Polyglutamine-expanded ataxin-7 upregulates Bax expression by activating p53 in cerebellar and inferior olivary neurons.
study suggests that polyglutamine-expanded ataxin-7-induced transcriptional dysregulation causes cerebellar dysfunction and ataxia
Title: Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237118

NoName (e-PCR)
- UniSTS:237119

Atxn7 (e-PCR), detects polymorphism
- UniSTS:516682

28.MMHAP88FLB4.seq (e-PCR)
- UniSTS:123837

AI627028 (e-PCR)
- UniSTS:164547

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of microtubule depolymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of RNA splicing	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of SAGA complex	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFTC complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ataxin-7

Names: spinocerebellar ataxia 7 homolog; spinocerebellar ataxia type 7 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_139227.4 → NP_631973.3 ataxin-7

See identical proteins and their annotated locations for NP_631973.3

Status: VALIDATED

Source sequence(s)

AC116479, AI508474, AK046679, BP758427, CJ101662

Consensus CDS

CCDS26823.1

UniProtKB/Swiss-Prot

E9QPX9, Q8BL17, Q8R4I1

UniProtKB/TrEMBL

B2RQB7

Related

ENSMUSP00000022257.3, ENSMUST00000022257.4

Conserved Domains (1) summary

pfam08313
Location:319 → 378

SCA7; SCA7, zinc-binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2023_04

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

8358367..8508324 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006518018.5 → XP_006518081.1 ataxin-7 isoform X2

UniProtKB/TrEMBL

B2RQB7

Conserved Domains (3) summary

PHA03247
Location:359 → 593

PHA03247; large tegument protein UL36; Provisional

pfam08313
Location:296 → 355

SCA7; zinc-binding domain

pfam15912
Location:367 → 445

VIR_N; Virilizer, N-terminal
XM_006518015.5 → XP_006518078.1 ataxin-7 isoform X1

See identical proteins and their annotated locations for XP_006518078.1

UniProtKB/TrEMBL

A0A286YDW9, B2RQB7

Conserved Domains (3) summary

PHA03247
Location:382 → 616

PHA03247; large tegument protein UL36; Provisional

pfam08313
Location:319 → 378

SCA7; zinc-binding domain

pfam15912
Location:390 → 468

VIR_N; Virilizer, N-terminal
XM_036158598.1 → XP_036014491.1 ataxin-7 isoform X3

UniProtKB/TrEMBL

B2RQB7

Conserved Domains (2) summary

PHA03247
Location:276 → 350

PHA03247; large tegument protein UL36; Provisional

pfam08313
Location:202 → 261

SCA7; zinc-binding domain
XM_006518017.4 → XP_006518080.1 ataxin-7 isoform X1

See identical proteins and their annotated locations for XP_006518080.1

UniProtKB/TrEMBL

A0A286YDW9, B2RQB7

Related

ENSMUSP00000153613.2, ENSMUST00000223714.2

Conserved Domains (3) summary

PHA03247
Location:382 → 616

PHA03247; large tegument protein UL36; Provisional

pfam08313
Location:319 → 378

SCA7; zinc-binding domain

pfam15912
Location:390 → 468

VIR_N; Virilizer, N-terminal
XM_036158599.1 → XP_036014492.1 ataxin-7 isoform X4

Conserved Domains (2) summary

PHA03247
Location:173 → 247

PHA03247; large tegument protein UL36; Provisional

pfam08313
Location:99 → 158

SCA7; zinc-binding domain
XM_030247817.2 → XP_030103677.1 ataxin-7 isoform X5

Conserved Domains (3) summary

PHA03247
Location:162 → 396

PHA03247; large tegument protein UL36; Provisional

pfam08313
Location:99 → 158

SCA7; zinc-binding domain

pfam15912
Location:170 → 248

VIR_N; Virilizer, N-terminal