ATN1
entrez
1822
canonical
uniprot
P54259
canonical
ensembl
ENSG00000111676
resolver
ensp
ENSP00000349076
resolver
ensp
ENSP00000379915
resolver
ensp
ENSP00000552300
resolver
ensp
ENSP00000552303
resolver
ensp
ENSP00000602582
resolver
ensp
ENSP00000602583
resolver
enst
ENST00000356654
resolver
enst
ENST00000396684
resolver
enst
ENST00000882244
resolver
enst
ENST00000932524
resolver
genesymbol
ATN1
resolver
genesymbol_syn
D12S755E
resolver
genesymbol_syn
DRPLA
resolver
hgnc
HGNC:3033
resolver
uniprot
Q86V38
resolver
uniprot
Q99495
resolver
uniprot
Q99621
resolver
uniprot
Q9UEK7
resolver
uniprot_entry
ATN1_HUMAN
resolver
uniprot_entry
Q86V38_HUMAN
resolver
uniprot_sec
Q99495
resolver
uniprot_sec
Q99621
resolver
uniprot_sec
Q9UEK7
resolver
amino_acid_sequence
MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSDGKAEKSRQTAKKARVEEASTPKVNKQGRSEEISESESEETNAPKKTKTEQELPRPQSPSDLDSLDGRSLNDDGSSDPRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYHPPPLFPPSPQPPDSTPRQPEASFEPHPSVTPTGYHAPMEPPTSRMFQAPPGAPPPHPQLYPGGTGGVLSGPPMGPKGGGAASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPTTPVGGGNLPSAPPPANFPHVTPNLPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAMGQGMGGLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASSSSSSSSSSASPFPASQALPSYPHSFPPPTSLSVSNQPPKYTQPSLPSQAVWSQGPPPPPPYGRLLANSNAHPGPFPPSTGAQSTAHPPVSTHHHHHQQQQQQQQQQQQQQQQQQQHHGNSGPPPPGAFPHPLEGGSSHHAHPYAMSPSLGSLRPYPPGPAHLPPPHSQVSYSQAGPNGPPVSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYPFPPVPTVTTSSATLSTVIATVASSPAGYKTASPPGPPPYGKRAPSPGAYKTATPPGYKPGSPPSFRTGTPPGYRGTSPPAGPGTFKPGSPTVGPGPLPPAGPSGLPSLPPPPAAPASGPPLSATQIKQEPAEEYETPESPVPPARSPSPPPKVVDVPSHASQSARFNKHLDRGFNSCARSDLYFVPLEGSKLAKKRADLVEKVRREAEQRAREEKEREREREREKEREREKERELERSVKLAQEGRAPVECPSLGPVPHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNRNHPFYVPLGAVDPGLLGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPLHGVPGPGLDPFPRHGGLALQPGPPGLHPFPFHPSLGPLERERLALAAGPALRPDMSYAERLAAERQHAERVAALGNDPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLIDPLASGSHLTRIPYPAGTLPNPLLPHPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQLQAMHAQSAELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL
uniprot
proteins
disease_involvement
DISEASE: Dentatorubral-pallidoluysian atrophy (DRPLA) [MIM:125370]: Autosomal dominant neurodegenerative disorder characterized by a loss of neurons in the dentate nucleus, rubrum, glogus pallidus and Luys'body. Clinical features are myoclonus epilepsy, dementia, and cerebellar ataxia. Onset of the disease occurs usually in the second decade of life and death in the fourth. {ECO:0000269|PubMed:7842016, ECO:0000269|PubMed:8136840}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) [MIM:618494]: An autosomal dominant neurodevelopmental syndrome characterized by severe global developmental delay, impaired intellectual development, poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital malformations. Most patients also have seizures and structural brain abnormalities. {ECO:0000269|PubMed:30827498}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats. {ECO:0000250|UniProtKB:O35126, ECO:0000269|PubMed:10085113, ECO:0000269|PubMed:10973986}.
uniprot
proteins
mass_dalton
125414
uniprot
proteins
mutagenesis
MUTAGEN 109; /note="D->N: Prevents cleavage and suppresses apoptosis."; /evidence="ECO:0000269|PubMed:10085113"; MUTAGEN 739; /note="S->A: Abolishes phosphorylation.
uniprot
proteins
post_translational_modification
PTM: Phosphorylated in vitro by MAPK8/JNK1 on Ser-739. Mutant ATN1 sequences with expanded poly-Gln (polyQ) traits are more slowly phosphorylated. {ECO:0000269|PubMed:12812981}.; PTM: Proteolytically cleaved, probably in the nucleus, to produce two C-terminal fragments of 140 kDa (F1) and 125 kDa (F2) each containing poly-Gln (polyQ) tracts. F2 is produced by cleavage by caspases and is exported into the cytoplasm. In vitro, cleavage increases with an increase in the number of polyQ tracts. C-terminal proteolytic products appear to be the cause of cell toxicity. In vitro cleavage at Asp-109. {ECO:0000269|PubMed:10085113, ECO:0000269|PubMed:12464607, ECO:0000269|PubMed:20977674, ECO:0000269|PubMed:9361003}.
uniprot
proteins
pubmed
10085113
uniprot
proteins
pubmed
10332026
uniprot
proteins
pubmed
10814707
uniprot
proteins
pubmed
10973986
uniprot
proteins
pubmed
12464607
uniprot
proteins
pubmed
12812981
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19131340
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20410308
uniprot
proteins
pubmed
20977674
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30827498
uniprot
proteins
pubmed
7485154
uniprot
proteins
pubmed
7842016
uniprot
proteins
pubmed
7951323
uniprot
proteins
pubmed
8136840
uniprot
proteins
pubmed
8852663
uniprot
proteins
pubmed
8965642
uniprot
proteins
pubmed
9074930
uniprot
proteins
pubmed
9361003
uniprot
proteins
pubmed
9647693
uniprot
proteins
sequence_length
1190
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, perinuclear region. Cell junction {ECO:0000250|UniProtKB:P54258}. Note=Shuttles between nucleus and cytoplasm. Colocalizes with FAT1 in the perinuclear area, at cell-cell junctions and leading edges of cells (By similarity). Colocalizes with MTG8 in discrete nuclear dots. Proteolytic fragment F1 appears to remain in nucleus. Fragment F2 is exported into the cytoplasm. Fragment F2 from mutant sequences with longer poly-Gln (polyQ) tracts are additionally located to the cytoplasmic membrane and to certain organelles. {ECO:0000250}.
uniprot
proteins