ATN1 atrophin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATN1provided by HGNC
Official Full Name: atrophin 1provided by HGNC
Primary source: HGNC:HGNC:3033
See related: Ensembl:ENSG00000111676 MIM:607462; AllianceGenome:HGNC:3033
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: B37; HRS; NOD; DRPLA; CHEDDA; D12S755E
Summary: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]
Expression: Ubiquitous expression in ovary (RPKM 68.4), brain (RPKM 46.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (6924459..6942321)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (6935640..6953487)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (7033622..7051484)

Chromosome 12 - NC_000012.12 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.
Title: Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Title: CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Non-Progressive Neurocognitive Syndrome.
Title: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Data indicate that the size of the expanded CAG repeats od dentatorubral-pallidoluysian atrophy protein (DRPLA) was inversely correlated with the age at onset.
Title: [Clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy].
Epigenetic regulation of ATN1 by LSD1 is required for cortical progenitor maintenance.
Title: Epigenetic regulation of Atrophin1 by lysine-specific demethylase 1 is required for cortical progenitor maintenance.
Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
Title: Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
These data demonstrate that the expanded trinucleotide repeat within ATN-1 mRNA is a potential target for compounds designed to achieve allele-selective inhibition of ATN-1 protein, and one agent may allow the targeting of multiple disease genes.
Title: Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs.
results suggest that expanded polyQ repeats in ATN1 may contribute to neurodegeneration via alterations in both protein aggregation and intracellular localization.
Title: Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein.
This study demonistrated that hypoalbuminemia in early onset DRPLA revealed the possibility of multiorgan involvement.
Title: Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs.
In cerebrum and cerebellum of DRPLA transgenic mouse lines at 4, 8, and 12 weeks it is demonstrated that both the number and expression levels of the altered genes are highly dependent on CAG repeat length and age in both brain regions.
Title: DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies MedGen: C5193125 OMIM: 618494 GeneReviews: ATN1-Related Neurodevelopmental Disorder	not available
Dentatorubral-pallidoluysian atrophy MedGen: C0751781 OMIM: 125370 GeneReviews: Hereditary Ataxia Overview, DRPLA	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11235 (e-PCR)
- UniSTS:38972

D12S1899 (e-PCR)
- UniSTS:79172

AF021112 (e-PCR)
- UniSTS:15733

D12S755E (e-PCR)
- UniSTS:148888

STS-D31840 (e-PCR)
- UniSTS:13230

G10506 (e-PCR)
- UniSTS:58814

G28537 (e-PCR)
- UniSTS:11976

ENO2_37 (e-PCR)
- UniSTS:277206

GDB:303913 (e-PCR)
- UniSTS:156399

SHGC-58828 (e-PCR)
- UniSTS:94462

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IEA Inferred from Electronic Annotation more info
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell killing	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in maintenance of cell polarity	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in response to food	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay 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 perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: atrophin-1

Names: dentatorubral-pallidoluysian atrophy protein

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.

Genomic

NG_008047.2 RefSeqGene

Range

8502..22864

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001007026.2 → NP_001007027.1 atrophin-1

See identical proteins and their annotated locations for NP_001007027.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC051795, BQ448220, BQ880124, BQ897715, U47924

Consensus CDS

CCDS31734.1

UniProtKB/Swiss-Prot

P54259, Q99495, Q99621, Q9UEK7

UniProtKB/TrEMBL

Q86V38

Related

ENSP00000349076.3, ENST00000356654.8

Conserved Domains (1) summary

pfam03154
Location:1 → 1189

Atrophin-1; Atrophin-1 family
NM_001424176.1 → NP_001411105.1 atrophin-1 isoform 1

Status: REVIEWED

Source sequence(s)

U47924

UniProtKB/Swiss-Prot

P54259, Q99495, Q99621, Q9UEK7
NM_001424177.1 → NP_001411106.1 atrophin-1 isoform 1

Status: REVIEWED

Source sequence(s)

U47924

UniProtKB/Swiss-Prot

P54259, Q99495, Q99621, Q9UEK7
NM_001424178.1 → NP_001411107.1 atrophin-1 isoform 1

Status: REVIEWED

Source sequence(s)

U47924

UniProtKB/Swiss-Prot

P54259, Q99495, Q99621, Q9UEK7
NM_001424179.1 → NP_001411108.1 atrophin-1 isoform 2

Status: REVIEWED

Source sequence(s)

U47924
NM_001424180.1 → NP_001411109.1 atrophin-1 isoform 2

Status: REVIEWED

Source sequence(s)

U47924
NM_001424181.1 → NP_001411110.1 atrophin-1 isoform 1

Status: REVIEWED

Source sequence(s)

CP068266
NM_001424182.1 → NP_001411111.1 atrophin-1 isoform 2

Status: REVIEWED

Source sequence(s)

CP068266
NM_001940.4 → NP_001931.2 atrophin-1

See identical proteins and their annotated locations for NP_001931.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AW411230, BE142829, BQ448220, BQ897715, BQ957462, D31840, U47924

Consensus CDS

CCDS31734.1

UniProtKB/Swiss-Prot

P54259, Q99495, Q99621, Q9UEK7

UniProtKB/TrEMBL

Q86V38

Related

ENSP00000379915.2, ENST00000396684.3

Conserved Domains (1) summary

pfam03154
Location:1 → 1189

Atrophin-1; Atrophin-1 family