KEGG   Homo sapiens (human): 55210
Entry
55210             CDS       T01001                                 

Gene name
ATAD3A, HAYOS, PHRINL
Definition
(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: DUF3523 AAA AAA_16 Mg_chelatase RuvB_N AAA_24 Zot AAA_22 ATPase AAA_33 AAA_lid_3 TsaE RNA_helicase Sigma54_activ_2 AAA_5 AAA_7 AAA_18 AAA_17
Other DBs
NCBI-GeneID: 55210
NCBI-ProteinID: NP_060658
OMIM: 612316
HGNC: 25567
Ensembl: ENSG00000197785
Vega: OTTHUMG00000000575
Pharos: Q9NVI7(Tbio)
UniProt: Q9NVI7
Position
1p36.33
AA seq 634 aa
MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAK
AARELEHSRYAKDALNLAQMQEQTLQLEQQSKLKMRLEALSLLHTLVWAWSLCRAGAVQT
QERLSGSASPEQVPAGECCALQEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQARAQY
QDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVEREMELRHKNEMLRVEAE
ARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVA
GLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQ
DALEGVVLSPSLEARVRDIAIATRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMD
YAIMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFVDEADAFLRKRATEKISEDLRAT
LNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPGQEERERLVRMYFDKY
VLKPATEGKQRLKLAQFDYGRKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEA
MMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS
NT seq 1905 nt   +upstreamnt  +downstreamnt
atgtcgtggctcttcggcattaacaagggccccaagggtgaaggcgcggggccgccgccg
cctttgccgcccgcgcagcccggggccgagggcggcggggaccgcgggttgggagaccgg
ccggcgcccaaggacaaatggagcaacttcgaccccaccggcctggagcgcgccgccaag
gcggcgcgcgagctggagcactcgcgttatgccaaggacgccctgaatctggcacagatg
caggagcagacgctgcagttggagcaacagtccaagctcaaaatgcggctggaagccctg
agcctgctgcacacactagtctgggcatggagtctctgccgtgccggagccgtgcagaca
caggagcggctgtcaggcagtgccagccctgagcaagtgccagctggtgagtgctgtgct
ctgcaggagtatgaggccgccgtggagcagctcaagagcgagcagatccgggcgcaggct
gaggagaggaggaagaccctgagcgaggagacccggcagcaccaggccagggcccagtat
caagacaagctggcccggcagcgctacgaggaccaactgaagcagcagcaacttctcaat
gaggagaatttacggaagcaggaggagtccgtgcagaagcaggaagccatgcggcgagcc
accgtggagcgggagatggagctgcggcacaagaatgagatgctgcgagtggaggccgag
gcccgggcgcgcgccaaggccgagcgggagaatgcagacatcatccgcgagcagatccgc
ctgaaggcggccgagcaccgtcagaccgtcttggagtccatcaggacggctggcaccttg
tttggggaaggattccgtgcctttgtgacagactgggacaaagtgacagccacggtggct
gggctgacgctgctggctgttggggtctactcagccaagaatgccacgcttgtcgccggc
cgcttcatcgaggctcggctggggaagccgtccctagtgagggagacgtcccgcatcacg
gtgcttgaggcgctgcggcaccccatccaggtcagccggcggctcctcagtcgaccccag
gacgcgctggagggtgttgtgctcagtcccagcctggaagcacgggtgcgcgacatcgcc
atagcaacaaggaacaccaagaagaaccgcagcctgtacaggaacatcctgatgtacggg
ccaccaggcaccgggaagacgctgtttgccaagaaactcgccctgcactcaggcatggac
tacgccatcatgacaggcggggacgtggcccccatggggcgggaaggcgtgaccgccatg
cacaagctctttgactgggccaataccagccggcgcggcctcctgctctttgtggatgaa
gcggacgccttccttcggaagcgagccaccgagaagataagcgaggacctcagggccaca
ctgaacgccttcctgtaccgcacgggccagcacagcaacaagttcatgctggtcctggcc
agcaaccaaccagagcagttcgactgggccatcaatgaccgcatcaatgagatggtccac
ttcgacctgccagggcaggaggaacgggagcgcctggtgagaatgtattttgacaagtat
gttcttaagccggccacagaaggaaagcagcgcctgaagctggcccagtttgactacggg
aggaagtgctcggaggtcgctcggctgacggagggcatgtcgggccgggagatcgctcag
ctggccgtgtcctggcaggccacggcgtatgcctccgaggacggggtcctgaccgaggcc
atgatggacacccgcgtgcaagatgctgtccagcagcaccagcagaagatgtgctggctg
aaggcggaagggcctgggcgtggggacgagccctccccatcctga

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