KEGG   Homo sapiens (human): 5428
Entry
5428              CDS       T01001                                 
Symbol
POLG, MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE
Name
(RefSeq) DNA polymerase gamma, catalytic subunit
  KO
K02332  DNA polymerase gamma 1 [EC:2.7.7.7]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03410  Base excision repair
Network
nt06504  Base excision repair
  Element
N01438  Mitochondrial BER
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]
 09120 Genetic Information Processing
  09124 Replication and repair
   03410 Base excision repair
    5428 (POLG)
 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)
SSDB
Motif
Pfam: DNApol_Exo DNA_pol_A DNA_pol_A_exo1
Other DBs
NCBI-GeneID: 5428
NCBI-ProteinID: NP_001119603
OMIM: 174763
HGNC: 9179
Ensembl: ENSG00000140521
UniProt: P54098 E5KNU5
Structure
Position
15:complement(89316320..89334824)
AA seq 1239 aa
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   +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

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (13)   
   KEGG DISEASE (6)   
   OMIM (7)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (37)   
   KEGG ORTHOLOGY (1)   
   RefGene (18)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (13)   
   OC (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (24)   
   RefSeq(nuc) (2)   
   GenBank (11)   
   EMBL (11)   
3D Structure (10)   
   PDB (10)   
Protein domain (3)   
   Pfam (3)   
All databases (101)   

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