Atn1 atrophin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atn1provided by MGI
Official Full Name: atrophin 1provided by MGI
Primary source: MGI:MGI:104725
See related: Ensembl:ENSMUSG00000004263 AllianceGenome:MGI:104725
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: Atr1; Drpla; atrophin-1
Summary: Enables toxin activity; transcription coactivator activity; and transcription corepressor activity. Involved in cell migration and maintenance of cell polarity. Acts upstream of or within several processes, including determination of adult lifespan; male gonad development; and response to food. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and integumental system. Human ortholog(s) of this gene implicated in dentatorubral-pallidoluysian atrophy and schizophrenia. Orthologous to human ATN1 (atrophin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in limb E14.5 (RPKM 42.5), adrenal adult (RPKM 42.5) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 F2; 6 59.17 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (124719507..124733450, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (124742544..124756487, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

These results support the model that poly-Q expanded Atrophin-1 proteins cause dentatorubral-pallidoluysian atrophy in a manner independent of any functional interaction with wild-type Atrophin-1 proteins.
Title: C-terminal deletion of the atrophin-1 protein results in growth retardation but not neurodegeneration in mice.
Fat1 and Atrs 1,2 act in concert after vascular injury but show further that distinct Atr isoforms have disparate effects on VSMC directional migration.
Title: Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells.
TLX interacts with atrophin1 (Atn1), a corepressor that is involved in human neurodegenerative dentatorubral-pallidoluysian atrophy (DRPLA) and that is essential for development of multiple tissues.
Title: Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1.
mutant atropphin with polyglutamine expansion does not simply function in a dominant negative manner
Title: Sodium butyrate ameliorates histone hypoacetylation and neurodegenerative phenotypes in a mouse model for DRPLA.
Atrophin-1 and the short form of Atrophin-2 can act as potent and evolutionarily conserved transcriptional activators.
Title: Functional architecture of atrophins.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI837106 (e-PCR)
- UniSTS:179460

EC218RR (e-PCR), detects polymorphism
- UniSTS:142952

EC351RR (e-PCR), detects polymorphism
- UniSTS:142954

Eno2 (e-PCR), detects polymorphism
- UniSTS:142991

BB431127 (e-PCR)
- UniSTS:208033

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables JUN kinase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IGI Inferred from Genetic Interaction more info	PubMed
enables transcription corepressor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell killing	IDA Inferred from Direct Assay more info	PubMed
involved_in cell migration	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of cell polarity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in neuron apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neuron differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to food	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell leading edge	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: atrophin-1

Names: dentatorubral pallidoluysian atrophy; dentatorubral-pallidoluysian atrophy 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.