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

Gene name
POLG, MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE
Definition
polymerase (DNA directed), gamma (EC:2.7.7.7)
Orthology
K02332  
DNA polymerase gamma 1 [EC:2.7.7.7]
Organism
hsa  Homo sapiens (human)
Pathway
Metabolic pathways
Module
DNA polymerase gamma complex
Disease
H00469  
Mitochondrial DNA depletion syndrome (MDS)
H01118  
Progressive external ophthalmoplegia (PEO)
H01384  
The ataxia neuropathy spectrum (ANS)
H01389  
Alpers syndrome
H01390  
Mitochondrial neurogastrointestinal encephalomyopathy
H01395  
POLG related disorders
Brite
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)
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 Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Structure
PDB: 

Jmol
Position
15q25
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

DBGET integrated database retrieval system