Atn1
Gene Detail

Symbol Name ID

Atn1 atrophin 1 MGI:104725

Synonyms

Atr1, atrophin-1, Drpla

Feature Type

protein coding gene

Genetic Map

Chromosome 6

59.17 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr6:124739189-124756524 bp, - strand From VEGA annotation of GRCm38   17336 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:1461  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken

Gene Tree: Atn1

Human homologs

Human Homolog		ATN1, atrophin 1
NCBI Gene ID		1822
neXtProt AC		NX_P54259
Human Synonyms		B37, D12S755E, DRPLA, HRS, NOD
Human Chr (Location)		12p13.31; chr12:7033626-7051484 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ATN1

Alleles and phenotypes

All alleles(26) : Targeted(6) Gene trapped(20)
 

Homozygous null mice are viable and fertile, however mice expressing a truncated protein lacking the poly-Q repeat and C-terminal peptides display growth retardation, progressive male infertility with small testis and low sperm counts, and consume less food.

 

Gene Ontology (GO) classifications

All GO classifications: (24 annotations)

Process	cell migration, maintenance of cell polarity, ...
Component	cell junction, cell leading edge, ...
Function	JUN kinase binding, protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (12)    Tissues (12)   
Theiler Stages: 10, 18, 23, 25, 28

Assay Type	Results
Northern blot	12

cDNA source data(87)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(89) Genomic(1) cDNA(87) Other(1)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000023122 (Evidence)
Ensembl Gene Model	ENSMUSG00000004263 (Evidence)
Entrez Gene	13498 (Evidence)
UniGene	333380
DFCI	TC1581520, TC1583047
DoTS	DT.101725447, DT.535295, DT.99859246
Consensus CDS Project	CCDS20526.1
International Mouse Knockout Project Status	Atn1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023122	VEGA Gene Model | MGI Sequence Detail	17336	C57BL/6J
transcript	OTTMUST00000055871	VEGA | MGI Sequence Detail	4433	Not Applicable
polypeptide	OTTMUSP00000026801	VEGA | MGI Sequence Detail	1175	Not Applicable

All sequences(33) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(24 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017993	Atrophin-1
InterPro	IPR002951	Atrophin-like
Protein Ontology	PR:000004429	atrophin-1

References

(Earliest) J:29398 Onodera O, et al., Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. Am J Hum Genet. 1995 Nov;57(5):1050-60
(Latest) J:184005 Saburi S, et al., Functional interactions between Fat family cadherins in tissue morphogenesis and planar polarity. Development. 2012 May;139(10):1806-20
All references(42)

Other accession IDs

MGD-MRK-27088