KEGG   Homo sapiens (human): 55210
Entry
55210             CDS       T01001                                 
Symbol
ATAD3A, HAYOS, PHRINL
Name
(RefSeq) ATPase family AAA domain containing 3A
  KO
K17681  ATPase family AAA domain-containing protein 3A/B
Organism
hsa  Homo sapiens (human)
Disease
H02448  Harel-Yoon syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    55210 (ATAD3A)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial DNA replication factors
   Other Mitochondrial DNA replication factors
    55210 (ATAD3A)
SSDB
Motif
Pfam: ATAD3_N AAA AAA_16 DUF6079_1st RuvB_N AAA_22 nSTAND3 Mg_chelatase AAA_lid_3 Zot AAA_24 ATPase TsaE RNA_helicase AAA_5 AAA_7 AAA_17 DUF7202
Other DBs
NCBI-GeneID: 55210
NCBI-ProteinID: NP_001164006
OMIM: 612316
HGNC: 25567
Ensembl: ENSG00000197785
UniProt: Q9NVI7
LinkDB
Position
1:1512162..1534685
AA seq 586 aa
MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAK
AARELEHSRYAKDALNLAQMQEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLS
EETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVEREMEL
RHKNEMLRVEAEARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAF
VTDWDKVTATVAGLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHP
IQVSRRLLSRPQDALEGVVLSPSLEARVRDIAIATRNTKKNRSLYRNILMYGPPGTGKTL
FAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFVDEADAFLRKR
ATEKISEDLRATLNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPGQEE
RERLVRMYFDKYVLKPATEGKQRLKLAQFDYGRKCSEVARLTEGMSGREIAQLAVSWQAT
AYASEDGVLTEAMMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS
NT seq 1761 nt   +upstreamnt  +downstreamnt
atgtcgtggctcttcggcattaacaagggccccaagggtgaaggcgcggggccgccgccg
cctttgccgcccgcgcagcccggggccgagggcggcggggaccgcgggttgggagaccgg
ccggcgcccaaggacaaatggagcaacttcgaccccaccggcctggagcgcgccgccaag
gcggcgcgcgagctggagcactcgcgttatgccaaggacgccctgaatctggcacagatg
caggagcagacgctgcagttggagcaacagtccaagctcaaagagtatgaggccgccgtg
gagcagctcaagagcgagcagatccgggcgcaggctgaggagaggaggaagaccctgagc
gaggagacccggcagcaccaggccagggcccagtatcaagacaagctggcccggcagcgc
tacgaggaccaactgaagcagcagcaacttctcaatgaggagaatttacggaagcaggag
gagtccgtgcagaagcaggaagccatgcggcgagccaccgtggagcgggagatggagctg
cggcacaagaatgagatgctgcgagtggaggccgaggcccgggcgcgcgccaaggccgag
cgggagaatgcagacatcatccgcgagcagatccgcctgaaggcggccgagcaccgtcag
accgtcttggagtccatcaggacggctggcaccttgtttggggaaggattccgtgccttt
gtgacagactgggacaaagtgacagccacggtggctgggctgacgctgctggctgttggg
gtctactcagccaagaatgccacgcttgtcgccggccgcttcatcgaggctcggctgggg
aagccgtccctagtgagggagacgtcccgcatcacggtgcttgaggcgctgcggcacccc
atccaggtcagccggcggctcctcagtcgaccccaggacgcgctggagggtgttgtgctc
agtcccagcctggaagcacgggtgcgcgacatcgccatagcaacaaggaacaccaagaag
aaccgcagcctgtacaggaacatcctgatgtacgggccaccaggcaccgggaagacgctg
tttgccaagaaactcgccctgcactcaggcatggactacgccatcatgacaggcggggac
gtggcccccatggggcgggaaggcgtgaccgccatgcacaagctctttgactgggccaat
accagccggcgcggcctcctgctctttgtggatgaagcggacgccttccttcggaagcga
gccaccgagaagataagcgaggacctcagggccacactgaacgccttcctgtaccgcacg
ggccagcacagcaacaagttcatgctggtcctggccagcaaccaaccagagcagttcgac
tgggccatcaatgaccgcatcaatgagatggtccacttcgacctgccagggcaggaggaa
cgggagcgcctggtgagaatgtattttgacaagtatgttcttaagccggccacagaagga
aagcagcgcctgaagctggcccagtttgactacgggaggaagtgctcggaggtcgctcgg
ctgacggagggcatgtcgggccgggagatcgctcagctggccgtgtcctggcaggccacg
gcgtatgcctccgaggacggggtcctgaccgaggccatgatggacacccgcgtgcaagat
gctgtccagcagcaccagcagaagatgtgctggctgaaggcggaagggcctgggcgtggg
gacgagccctccccatcctga

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