KEGG   Homo sapiens (human): 1822
Entry
1822              CDS       T01001                                 
Symbol
ATN1, B37, CHEDDA, D12S755E, DRPLA, HRS, NOD
Name
(RefSeq) atrophin 1
  KO
K05626  atrophin-1 (dentatorubral-pallidoluysian atrophy protein)
Organism
hsa  Homo sapiens (human)
Disease
H00060  Dentatorubropallidoluysian atrophy (DRPLA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99995 Signaling proteins
    1822 (ATN1)
SSDB
Motif
Pfam: Atrophin-1
Other DBs
NCBI-GeneID: 1822
NCBI-ProteinID: NP_001007027
OMIM: 607462
HGNC: 3033
Ensembl: ENSG00000111676
UniProt: P54259 Q86V38
Position
12:6924459..6942321
AA seq 1190 aa
MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSDGKAEKSRQTAKKARVE
EASTPKVNKQGRSEEISESESEETNAPKKTKTEQELPRPQSPSDLDSLDGRSLNDDGSSD
PRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYHPPPLFPPSPQPPDSTPRQPE
ASFEPHPSVTPTGYHAPMEPPTSRMFQAPPGAPPPHPQLYPGGTGGVLSGPPMGPKGGGA
ASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPTTPVGGGNLPSAPPPANFPHVTPN
LPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAMGQGMGGLPPGPEKGPTLAPSPHSLP
PASSSAPAPPMRFPYSSSSSSSAAASSSSSSSSSSASPFPASQALPSYPHSFPPPTSLSV
SNQPPKYTQPSLPSQAVWSQGPPPPPPYGRLLANSNAHPGPFPPSTGAQSTAHPPVSTHH
HHHQQQQQQQQQQQQQQQQQQQHHGNSGPPPPGAFPHPLEGGSSHHAHPYAMSPSLGSLR
PYPPGPAHLPPPHSQVSYSQAGPNGPPVSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYP
FPPVPTVTTSSATLSTVIATVASSPAGYKTASPPGPPPYGKRAPSPGAYKTATPPGYKPG
SPPSFRTGTPPGYRGTSPPAGPGTFKPGSPTVGPGPLPPAGPSGLPSLPPPPAAPASGPP
LSATQIKQEPAEEYETPESPVPPARSPSPPPKVVDVPSHASQSARFNKHLDRGFNSCARS
DLYFVPLEGSKLAKKRADLVEKVRREAEQRAREEKEREREREREKEREREKERELERSVK
LAQEGRAPVECPSLGPVPHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNR
NHPFYVPLGAVDPGLLGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPL
HGVPGPGLDPFPRHGGLALQPGPPGLHPFPFHPSLGPLERERLALAAGPALRPDMSYAER
LAAERQHAERVAALGNDPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLI
DPLASGSHLTRIPYPAGTLPNPLLPHPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQL
QAMHAQSAELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL
NT seq 3573 nt   +upstreamnt  +downstreamnt
atgaagacacgacagaataaagactcgatgtcaatgaggagtggacggaagaaagaggcc
cctgggccccgggaagaactgagatcgaggggccgggcctcccctggaggggtcagcacg
tccagcagtgatggcaaagctgagaagtccaggcagacagccaagaaggcccgagtagag
gaagcctccaccccaaaggtcaacaagcagggtcggagtgaggagatctcagagagtgaa
agtgaggagaccaatgcaccaaaaaagaccaaaactgagcaggaactccctcggccacag
tctccctccgatctggatagcttggacgggcggagccttaatgatgatggcagcagcgac
cctagggatatcgaccaggacaaccgaagcacgtcccccagtatctacagccctggaagt
gtggagaatgactctgactcatcttctggcctgtcccagggcccagcccgcccctaccac
ccacctccactctttcctccttcccctcaaccgccagacagcacccctcgacagccagag
gctagctttgaaccccatccttctgtgacacccactggatatcatgctcccatggagccc
cccacatctcgaatgttccaggctcctcctggggcccctccccctcacccacagctctat
cctgggggcactggtggagttttgtctggacccccaatgggtcccaaggggggaggggct
gcctcatcagtggggggccctaatgggggtaagcagcaccccccacccactactcccatt
tcagtatcaagctctggggctagtggtgctcccccaacaaagccgcctaccactccagtg
ggtggtgggaacctaccttctgctccaccaccagccaacttcccccatgtgacaccgaac
ctgcctcccccacctgccctgagacccctcaacaatgcatcagcctctccccctggcctg
ggggcccaaccactacctggtcatctgccctctccccacgccatgggacagggtatgggt
ggacttcctcctggcccagagaagggcccaactctggctccttcaccccactctctgcct
cctgcttcctcttctgctccagcgccccccatgaggtttccttattcatcctctagtagt
agctctgcagcagcctcctcttccagttcttcctcctcttcctctgcctcccccttccca
gcttcccaggcattgcccagctacccccactctttccctcccccaacaagcctctctgtc
tccaatcagccccccaagtatactcagccttctctcccatcccaggctgtgtggagccag
ggtcccccaccacctcctccctatggccgcctcttagccaacagcaatgcccatccaggc
cccttccctccctctactggggcccagtccaccgcccacccaccagtctcaacacatcac
catcaccaccagcaacagcaacagcagcagcagcagcagcagcagcagcagcagcagcag
cagcagcatcacggaaactctgggccccctcctcctggagcatttccccacccactggag
ggcggtagctcccaccacgcacacccttacgccatgtctccctccctggggtctctgagg
ccctacccaccagggccagcacacctgcccccacctcacagccaggtgtcctacagccaa
gcaggccccaatggccctccagtctcttcctcttccaactcttcctcttccacttctcaa
gggtcctacccatgttcacacccctccccttcccagggccctcaaggggcgccctaccct
ttcccaccggtgcctacggtcaccacctcttcggctaccctttccacggtcattgccacc
gtggcttcctcgccagcaggctacaaaacggcctccccacctgggcccccaccgtacgga
aagagagccccgtccccgggggcctacaagacagccaccccacccggatacaaacccggg
tcgcctccctccttccgaacggggaccccaccgggctatcgaggaacctcgccacctgca
ggcccagggaccttcaagccgggctcgcccaccgtgggacctgggcccctgccacctgcg
gggccctcaggcctgccatcgctgccaccaccacctgcggcccctgcctcagggccgccc
ctgagcgccacgcagatcaaacaggagccggctgaggagtatgagacccccgagagcccg
gtgcccccagcccgcagcccctcgccccctcccaaggtggtagatgtacccagccatgcc
agtcagtctgccaggttcaacaaacacctggatcgcggcttcaactcgtgcgcgcgcagc
gacctgtacttcgtgccactggagggctccaagctggccaagaagcgggccgacctggtg
gagaaggtgcggcgcgaggccgagcagcgcgcgcgcgaagaaaaggagcgcgagcgcgag
cgggaacgcgagaaagagcgcgagcgcgagaaggagcgcgagcttgaacgcagcgtgaag
ttggctcaggagggccgtgctccggtggaatgcccatctctgggcccagtgccccatcgc
cctccatttgaaccgggcagtgcggtggctacagtgcccccctacctgggtcctgacact
ccagccttgcgcactctcagtgaatatgcccggcctcatgtcatgtctcctggcaatcgc
aaccatccattctacgtgcccctgggggcagtggacccggggctcctgggttacaatgtc
ccggccctgtacagcagtgatccagctgcccgggagagggaacgggaagcccgtgaacga
gacctccgtgaccgcctcaagcctggctttgaggtgaagcctagtgagctggaaccccta
catggggtccctgggccgggcttggatccctttccccgacatgggggcctggctctgcag
cctggcccacctggcctgcaccctttcccctttcatccgagcctggggcccctggagcga
gaacgtctagcgctggcagctgggccagccctgcggcctgacatgtcctatgctgagcgg
ctggcagctgagaggcagcacgcagaaagggtggcggccctgggcaatgacccactggcc
cggctgcagatgctcaatgtgactccccatcaccaccagcactcccacatccactcgcac
ctgcacctgcaccagcaagatgctatccatgcagcctctgcctcggtgcaccctctcatt
gaccccctggcctcagggtctcaccttacccggatcccctacccagctggaactctccct
aaccccctgcttcctcaccctctgcacgagaacgaagttcttcgtcaccagctctttgct
gccccttaccgggacctgccggcctccctttctgccccgatgtcagcagctcatcagctg
caggccatgcacgcacagtcagctgagctgcagcgcttggcgctggaacagcagcagtgg
ctgcatgcccatcacccgctgcacagtgtgccgctgcctgcccaggaggactactacagt
cacctgaagaaggaaagcgacaagccactgtag

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Ontology (1)   
   KEGG BRITE (1)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (62)   
   KEGG ORTHOLOGY (1)   
   RefGene (52)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (12)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (29)   
   RefSeq(nuc) (9)   
   GenBank (10)   
   EMBL (10)   
Protein domain (1)   
   Pfam (1)   
All databases (110)   

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