KEGG   Homo sapiens (human): 5428Help
Entry
5428              CDS       T01001                                 

Gene name
POLG, MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE
Definition
(RefSeq) DNA polymerase gamma, catalytic subunit
  KO
K02332  DNA polymerase gamma 1 [EC:2.7.7.7]
Organism
hsa  Homo sapiens (human)
Module
hsa_M00294  DNA polymerase gamma complex
Disease
H00469  Mitochondrial DNA depletion syndrome
H01118  Progressive external ophthalmoplegia
H01384  Mitochondrial recessive ataxia syndrome
H01389  Alpers syndrome
H01390  Mitochondrial neurogastrointestinal encephalomyopathy
H01395  Autosomal recessive progressive external ophthalmoplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    5428 (POLG)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    5428 (POLG)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.7  Nucleotidyltransferases
    2.7.7.7  DNA-directed DNA polymerase
     5428 (POLG)
DNA replication proteins [BR:hsa03032]
 Eukaryotic Type
  DNA Replication Elongation Factors
   DNA polymerase gamma complex (mitochondrial)
    5428 (POLG)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial DNA replication factors
   Mitochondrial DNA polymerase
    5428 (POLG)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: DNApol_Exo DNA_pol_A DUF2722 DNA_pol_A_exo1 Imm58
Motif
Other DBs
NCBI-GeneID: 5428
NCBI-ProteinID: NP_001119603
OMIM: 174763
HGNC: 9179
Ensembl: ENSG00000140521
Vega: OTTHUMG00000149646
Pharos: P54098(Tchem)
UniProt: P54098 E5KNU5
Structure
PDB: 

Position
15q26.1
AA seq 1239 aa AA seqDB search
MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQ
VLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPL
PDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGP
EGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLS
PADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMA
ISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVH
RLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPH
PVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYK
EDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQ
QDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTP
KLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHC
LEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALT
ARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQ
AGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAI
LPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAA
VLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQP
FAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWI
SLQDLRKVQRETARKSQWKKWEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCIS
RALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEFAIDGRFCISIHDEVRYL
VREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTP
SNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP
NT seq 3720 nt NT seq  +upstreamnt  +downstreamnt
atgagccgcctgctctggaggaaggtggccggcgccaccgtcgggccagggccggttcca
gctccggggcgctgggtctccagctccgtccccgcgtccgaccccagcgacgggcagcgg
cggcggcagcagcagcagcagcagcagcagcagcagcaacagcagcctcagcagccgcaa
gtgctatcctcggagggcgggcagctgcggcacaacccattggacatccagatgctctcg
agagggctgcacgagcaaatcttcgggcaaggaggggagatgcctggcgaggccgcggtg
cgccgcagcgtcgagcacctgcagaagcacgggctctgggggcagccagccgtgcccttg
cccgacgtggagctgcgcctgccgcccctctacggggacaacctggaccagcacttccgc
ctcctggcccagaagcagagcctgccctacctggaggcggccaacttgctgttgcaggcc
cagctgcccccgaagcccccggcttgggcctgggcggagggctggacccggtacggcccc
gagggggaggccgtacccgtggccatccccgaggagcgggccctggtgttcgacgtggag
gtctgcttggcagagggaacttgccccacattggcggtggccatatccccctcggcctgg
tattcctggtgcagccagcggctggtggaagagcgttactcttggaccagccagctgtcg
ccggctgacctcatccccctggaggtccctactggtgccagcagccccacccagagagac
tggcaggagcagttagtggtggggcacaatgtttcctttgaccgagctcatatcagggag
cagtacctgatccagggttcccgcatgcgtttcctggacaccatgagcatgcacatggcc
atctcagggctaagcagcttccagcgcagtctgtggatagcagccaagcagggcaaacac
aaggtccagccccccacaaagcaaggccagaagtcccagaggaaagccagaagaggccca
gcgatctcatcctgggactggctggacatcagcagtgtcaacagtctggcagaggtgcac
agactttatgtaggggggcctcccttagagaaggagcctcgagaactgtttgtgaagggc
accatgaaggacattcgtgagaacttccaggacctgatgcagtactgtgcccaggacgtg
tgggccacccatgaggttttccagcagcagctaccgctcttcttggagaggtgtccccac
ccagtgactctggccggcatgctggagatgggtgtctcctacctgcctgtcaaccagaac
tgggagcgttacctggcagaggcacagggcacttatgaggagctccagcgggagatgaag
aagtcgttgatggatctggccaatgatgcctgccagctgctctcaggagagaggtacaaa
gaagacccctggctctgggacctggagtgggacctgcaagaatttaagcagaagaaagct
aagaaggtgaagaaggaaccagccacagccagcaagttgcccatcgagggggctggggcc
cctggtgatcccatggatcaggaagacctcggcccctgcagtgaggaggaggagtttcaa
caagatgtcatggcccgcgcctgcttgcagaagctgaaggggaccacagagctcctgccc
aagcggccccagcaccttcctggacaccctggatggtaccggaagctctgcccccggcta
gacgaccctgcatggaccccgggccccagcctcctcagcctgcagatgcgggtcacacct
aaactcatggcacttacctgggatggcttccctctgcactactcagagcgtcatggctgg
ggctacttggtgcctgggcggcgggacaacctggccaagctgccgacaggtaccaccctg
gagtcagctggggtggtctgcccctacagagccatcgagtccctgtacaggaagcactgt
ctcgaacaggggaagcagcagctgatgccccaggaggccggcctggcggaggagttcctg
ctcactgacaatagtgccatatggcaaacggtagaagaactggattacttagaagtggag
gctgaggccaagatggagaacttgcgagctgcagtgccaggtcaacccctagctctgact
gcccgtggtggccccaaggacacccagcccagctatcaccatggcaatggaccttacaac
gacgtggacatccctggctgctggtttttcaagctgcctcacaaggatggtaatagctgt
aatgtgggaagcccctttgccaaggacttcctgcccaagatggaggatggcaccctgcag
gctggcccaggaggtgccagtgggccccgtgctctggaaatcaacaaaatgatttctttc
tggaggaacgcccataaacgtatcagctcccagatggtggtgtggctgcccaggtcagct
ctgccccgtgctgtgatcaggcaccccgactatgatgaggaaggcctctatggggccatc
ctgccccaagtggtgactgccggcaccatcactcgccgggctgtggagcccacatggctc
accgccagcaatgcccggcctgaccgagtaggcagtgagttgaaagccatggtgcaggcc
ccacctggctacacccttgtgggtgctgatgtggactcccaagagctgtggattgcagct
gtgcttggagacgcccactttgccggcatgcatggctgcacagcctttgggtggatgaca
ctgcagggcaggaagagcaggggcactgatctacacagtaagacagccactactgtgggc
atcagccgtgagcatgccaaaatcttcaactacggccgcatctatggtgctgggcagccc
tttgctgagcgcttactaatgcagtttaaccaccggctcacacagcaggaggcagctgag
aaggcccagcagatgtacgctgccaccaagggcctccgctggtatcggctgtcggatgag
ggcgagtggctggtgagggagttgaacctcccagtggacaggactgagggtggctggatt
tccctgcaggatctgcgcaaggtccagagagaaactgcaaggaagtcacagtggaagaag
tgggaggtggttgctgaacgggcatggaaggggggcacagagtcagaaatgttcaataag
cttgagagcattgctacgtctgacataccacgtaccccggtgctgggctgctgcatcagc
cgagccctggagccctcggctgtccaggaagagtttatgaccagccgtgtgaattgggtg
gtacagagctctgctgttgactacttacacctcatgcttgtggccatgaagtggctgttt
gaagagtttgccatagatgggcgcttctgcatcagcatccatgacgaggttcgctacctg
gtgcgggaggaggaccgctaccgcgctgccctggccttgcagatcaccaacctcttgacc
aggtgcatgtttgcctacaagctgggtctgaatgacttgccccagtcagtcgcctttttc
agtgcagtcgatattgaccggtgcctcaggaaggaagtgaccatggattgtaaaacccct
tccaacccaactgggatggaaaggagatacgggattccccagggtgaagcgctggatatt
taccagataattgaactcaccaaaggctccttggaaaaacgaagccagcctggaccatag

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