Atxn1 ataxin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atxn1provided by MGI
Official Full Name: ataxin 1provided by MGI
Primary source: MGI:MGI:104783
See related: Ensembl:ENSMUSG00000046876 AllianceGenome:MGI:104783
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: Atx1; Sca1; Gm10786; 2900016G23Rik
Summary: Enables RNA binding activity and chromatin binding activity. Involved in brain development; learning or memory; and social behavior. Acts upstream of or within several processes, including negative regulation of insulin-like growth factor receptor signaling pathway; regulation of transcription by RNA polymerase II; and visual learning. Located in nuclear inclusion body. Part of protein-containing complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; liver; and skeleton. Used to study spinocerebellar ataxia type 1. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 1. Orthologous to human ATXN1 (ataxin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cortex adult (RPKM 5.7), frontal lobe adult (RPKM 4.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A5; 13 21.98 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (45703231..46118467, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (45549755..45964991, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Ataxin-1 controls the expression of specific noncoding RNAs in B cells upon autoimmune demyelination.
Title: Ataxin-1 controls the expression of specific noncoding RNAs in B cells upon autoimmune demyelination.
Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles.
Title: Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles.
Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1.
Title: Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1.
Identifying Disease Signatures in the Spinocerebellar Ataxia Type 1 Mouse Cortex.
Title: Identifying Disease Signatures in the Spinocerebellar Ataxia Type 1 Mouse Cortex.
Indirect Negative Effect of Mutant Ataxin-1 on Short- and Long-Term Synaptic Plasticity in Mouse Models of Spinocerebellar Ataxia Type 1.
Title: Indirect Negative Effect of Mutant Ataxin-1 on Short- and Long-Term Synaptic Plasticity in Mouse Models of Spinocerebellar Ataxia Type 1.
Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model.
Title: Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model.
Intercellular Propagation and Aggregate Seeding of Mutant Ataxin-1.
Title: Intercellular Propagation and Aggregate Seeding of Mutant Ataxin-1.
Region-specific preservation of Purkinje cell morphology and motor behavior in the ATXN1[82Q] mouse model of spinocerebellar ataxia 1.
Title: Region-specific preservation of Purkinje cell morphology and motor behavior in the ATXN1[82Q] mouse model of spinocerebellar ataxia 1.
Chronic optogenetic stimulation of Bergman glia leads to dysfunction of EAAT1 and Purkinje cell death, mimicking the events caused by expression of pathogenic ataxin-1.
Title: Chronic optogenetic stimulation of Bergman glia leads to dysfunction of EAAT1 and Purkinje cell death, mimicking the events caused by expression of pathogenic ataxin-1.
Sphingolipid metabolism governs Purkinje cell patterned degeneration in Atxn1[82Q]/+ mice.
Title: Sphingolipid metabolism governs Purkinje cell patterned degeneration in Atxn1[82Q]/+ mice.

Submit: New GeneRIF Correction See all GeneRIFs (64)

Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH127241 (e-PCR)
- UniSTS:208922

D13Mit34 (e-PCR), detects polymorphism
- UniSTS:127139

X83542 (e-PCR)
- UniSTS:163534

NoName (e-PCR)
- UniSTS:237007

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables POZ domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables poly(G) binding	ISO Inferred from Sequence Orthology more info
enables poly(U) RNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within excitatory postsynaptic potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung alveolus development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	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
acts_upstream_of_or_within negative regulation of phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear export	ISO Inferred from Sequence Orthology more info
acts_upstream_of phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of glial cell proliferation	IMP Inferred from Mutant Phenotype 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-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nuclear inclusion body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear inclusion body	ISO Inferred from Sequence Orthology more info
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor 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 protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ataxin-1

Names: spinocerebellar ataxia 1 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_001199304.1 → NP_001186233.1 ataxin-1 isoform b

See identical proteins and their annotated locations for NP_001186233.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode the same isoform (b).

Source sequence(s)

AC154817, AK048268, AK165114, BE993799

Consensus CDS

CCDS26483.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Related

ENSMUSP00000129890.3, ENSMUST00000167708.4

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
NM_001199305.1 → NP_001186234.1 ataxin-1 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).

Source sequence(s)

AC154817, AK048268, AK165114, BE993799

Consensus CDS

CCDS56877.1

UniProtKB/TrEMBL

J3QPR1

Related

ENSMUSP00000137439.2, ENSMUST00000180110.9

Conserved Domains (2) summary

smart00536
Location:549 → 672

AXH; domain in Ataxins and HMG containing proteins

pfam12547
Location:391 → 421

ATXN-1_C; Capicua transcriptional repressor modulator
NM_009124.6 → NP_033150.2 ataxin-1 isoform b

See identical proteins and their annotated locations for NP_033150.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a. Variants 2 and 3 both encode the same isoform (b).

Source sequence(s)

AC154817, AK048268, AK165114, BE993799

Consensus CDS

CCDS26483.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Related

ENSMUSP00000089217.4, ENSMUST00000091628.11

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

45703231..46118467 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011244386.4 → XP_011242688.1 ataxin-1 isoform X1

See identical proteins and their annotated locations for XP_011242688.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_011244385.4 → XP_011242687.1 ataxin-1 isoform X1

See identical proteins and their annotated locations for XP_011242687.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_030247210.2 → XP_030103070.1 ataxin-1 isoform X1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_011244383.4 → XP_011242685.1 ataxin-1 isoform X1

See identical proteins and their annotated locations for XP_011242685.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_011244381.4 → XP_011242683.1 ataxin-1 isoform X1

See identical proteins and their annotated locations for XP_011242683.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_011244390.4 → XP_011242692.1 ataxin-1 isoform X1

See identical proteins and their annotated locations for XP_011242692.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_011244389.4 → XP_011242691.1 ataxin-1 isoform X1

See identical proteins and their annotated locations for XP_011242691.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_030247213.2 → XP_030103073.1 ataxin-1 isoform X1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_036157943.1 → XP_036013836.1 ataxin-1 isoform X1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_011244387.4 → XP_011242689.1 ataxin-1 isoform X1

See identical proteins and their annotated locations for XP_011242689.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_036157944.1 → XP_036013837.1 ataxin-1 isoform X1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_011244388.3 → XP_011242690.1 ataxin-1 isoform X1

See identical proteins and their annotated locations for XP_011242690.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_030247212.2 → XP_030103072.1 ataxin-1 isoform X1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_030247211.2 → XP_030103071.1 ataxin-1 isoform X1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_011244392.3 → XP_011242694.1 ataxin-1 isoform X1

See identical proteins and their annotated locations for XP_011242694.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_011244391.4 → XP_011242693.1 ataxin-1 isoform X1

See identical proteins and their annotated locations for XP_011242693.1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)
XM_017315463.3 → XP_017170952.1 ataxin-1 isoform X1

UniProtKB/Swiss-Prot

P54254, Q8C866

Conserved Domains (2) summary

PHA03247
Location:79 → 280

PHA03247; large tegument protein UL36; Provisional

pfam08517
Location:550 → 661

AXH; Ataxin-1 and HBP1 module (AXH)