KEGG   Homo sapiens (human): 1822Help
Entry
1822              CDS       T01001                                 

Gene name
ATN1, B37, CHEDDA, D12S755E, DRPLA, HRS, NOD
Definition
(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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Atrophin-1 Spt20
Motif
Other DBs
NCBI-GeneID: 1822
NCBI-ProteinID: NP_001007027
OMIM: 607462
HGNC: 3033
Ensembl: ENSG00000111676
Vega: OTTHUMG00000169015
Pharos: P54259(Tbio)
UniProt: P54259 Q86V38
LinkDB All DBs
Position
12p13.31
AA seq 1190 aa AA seqDB search
MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSDGKAEKSRQTAKKARVE
EASTPKVNKQGRSEEISESESEETNAPKKTKTEQELPRPQSPSDLDSLDGRSLNDDGSSD
PRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYHPPPLFPPSPQPPDSTPRQPE
ASFEPHPSVTPTGYHAPMEPPTSRMFQAPPGAPPPHPQLYPGGTGGVLSGPPMGPKGGGA
ASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPTTPVGGGNLPSAPPPANFPHVTPN
LPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAMGQGMGGLPPGPEKGPTLAPSPHSLP
PASSSAPAPPMRFPYSSSSSSSAAASSSSSSSSSSASPFPASQALPSYPHSFPPPTSLSV
SNQPPKYTQPSLPSQAVWSQGPPPPPPYGRLLANSNAHPGPFPPSTGAQSTAHPPVSTHH
HHHQQQQQQQQQQQQQQQQQQQHHGNSGPPPPGAFPHPLEGGSSHHAHPYAMSPSLGSLR
PYPPGPAHLPPPHSQVSYSQAGPNGPPVSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYP
FPPVPTVTTSSATLSTVIATVASSPAGYKTASPPGPPPYGKRAPSPGAYKTATPPGYKPG
SPPSFRTGTPPGYRGTSPPAGPGTFKPGSPTVGPGPLPPAGPSGLPSLPPPPAAPASGPP
LSATQIKQEPAEEYETPESPVPPARSPSPPPKVVDVPSHASQSARFNKHLDRGFNSCARS
DLYFVPLEGSKLAKKRADLVEKVRREAEQRAREEKEREREREREKEREREKERELERSVK
LAQEGRAPVECPSLGPVPHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNR
NHPFYVPLGAVDPGLLGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPL
HGVPGPGLDPFPRHGGLALQPGPPGLHPFPFHPSLGPLERERLALAAGPALRPDMSYAER
LAAERQHAERVAALGNDPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLI
DPLASGSHLTRIPYPAGTLPNPLLPHPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQL
QAMHAQSAELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL
NT seq 3573 nt NT seq  +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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