Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P54098 (DPOG1_HUMAN)

Protein

DNA polymerase subunit gamma-1

Gene

POLG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.

Catalytic activityi

Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).

Cofactori

Mg2+

GO - Molecular functioni

  • 3'-5' exonuclease activity Source: GO_Central
  • chromatin binding Source: UniProtKB
  • DNA binding Source: UniProtKB-KW
  • DNA-directed DNA polymerase activity Source: MGI
  • protease binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding, DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase
Biological processDNA replication
LigandMagnesium

Names & Taxonomyi

Protein namesi
Recommended name:
DNA polymerase subunit gamma-1 (EC:2.7.7.7)
Alternative name(s):
Mitochondrial DNA polymerase catalytic subunit
PolG-alpha
Gene namesi
Name:POLG
Synonyms:MDP1, POLG1, POLGA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000140521.11
HGNCiHGNC:9179 POLG
MIMi174763 gene
neXtProtiNX_P54098

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion, Mitochondrion nucleoid

Pathology & Biotechi

Involvement in diseasei

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
See also OMIM:157640
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058878511S → N in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918055EnsemblClinVar.1
Natural variantiVAR_023678923G → D in PEOA1. 1 Publication1
Natural variantiVAR_023680943R → H in PEOA1. 1 Publication1
Natural variantiVAR_023681953R → C in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs11546842EnsemblClinVar.1
Natural variantiVAR_012156955Y → C in PEOA1; can underlie parkinsonism; 45-fold decrease in apparent binding affinity for the incoming nucleoside triphosphate; 2-fold less accurate for basepair substitutions than wild-type. 5 PublicationsCorresponds to variant dbSNP:rs113994099EnsemblClinVar.1
Natural variantiVAR_023682957A → S in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918051EnsemblClinVar.1
Natural variantiVAR_0236901176S → L in PEOA1. 2 PublicationsCorresponds to variant dbSNP:rs776031396EnsemblClinVar.1
Natural variantiVAR_0651191186D → H in PEOA1. 1 Publication1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms.
See also OMIM:258450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0121533R → P in PEOB1. 2 PublicationsCorresponds to variant dbSNP:rs121918045EnsemblClinVar.1
Natural variantiVAR_023664251T → I in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994094EnsemblClinVar.1
Natural variantiVAR_058873268G → A in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs61752784EnsemblClinVar.1
Natural variantiVAR_012154304L → R in PEOB1; also found in SANDO. 3 PublicationsCorresponds to variant dbSNP:rs121918044EnsemblClinVar.1
Natural variantiVAR_058874304L → SANDO in PEOB1. 1
Natural variantiVAR_058875308Q → H in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs745539599EnsemblClinVar.1
Natural variantiVAR_023665309R → L in PEOB1. 2 Publications1
Natural variantiVAR_023666312W → R in PEOB1; sporadic case. 2 Publications1
Natural variantiVAR_058876380G → D in PEOB1. 1 Publication1
Natural variantiVAR_023667431G → V in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_012155467A → T in PEOB1, SANDO, SCAE and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 13 PublicationsCorresponds to variant dbSNP:rs113994095EnsemblClinVar.1
Natural variantiVAR_023668468N → D in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs145843073EnsemblClinVar.1
Natural variantiVAR_058880562R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs781168350Ensembl.1
Natural variantiVAR_058881574R → W in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs774474723Ensembl.1
Natural variantiVAR_023670579R → W in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs556925652EnsemblClinVar.1
Natural variantiVAR_023671587P → L in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994096EnsemblClinVar.1
Natural variantiVAR_058882603M → L in PEOB1. 1 Publication1
Natural variantiVAR_058884648P → R in PEOB1; sporadic case; also in SANDO. 2 PublicationsCorresponds to variant dbSNP:rs796052906EnsemblClinVar.1
Natural variantiVAR_058885737G → R in PEOB1; with absence of progressive external ophthalmoplegia. 1 PublicationCorresponds to variant dbSNP:rs121918054EnsemblClinVar.1
Natural variantiVAR_058888807R → P in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_023675848G → S in PEOB1, MTDPS4A, MTDPS4B and LS. 6 PublicationsCorresponds to variant dbSNP:rs113994098EnsemblClinVar.1
Natural variantiVAR_058889853R → W in PEOB1; with absence of progressive external ophthalmoplegia. 2 PublicationsCorresponds to variant dbSNP:rs121918053EnsemblClinVar.1
Natural variantiVAR_023677889A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs763393580EnsemblClinVar.1
Natural variantiVAR_0236831047R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs768028281EnsemblClinVar.1
Natural variantiVAR_0236851076G → V in PEOB1. 1 Publication1
Natural variantiVAR_0236861096R → C in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs201732356EnsemblClinVar.1
Natural variantiVAR_0236871104S → C in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_0236881105A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs753410045Ensembl.1
Natural variantiVAR_0236891106V → I in PEOB1. 1 Publication1
Natural variantiVAR_0149101146R → C in PEOB1. 2 PublicationsCorresponds to variant dbSNP:rs2307440EnsemblClinVar.1
Natural variantiVAR_0588971184D → N in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs1131691575Ensembl.1
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss.
See also OMIM:607459
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058879517G → V in SANDO. 1 PublicationCorresponds to variant dbSNP:rs61752783EnsemblClinVar.1
Natural variantiVAR_058883627R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 PublicationCorresponds to variant dbSNP:rs375305567EnsemblClinVar.1
Natural variantiVAR_023672627R → W in SANDO; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs121918046EnsemblClinVar.1
Natural variantiVAR_023673748W → S in SANDO, SCAE and MTDPS4A; unknown pathological significance. 6 PublicationsCorresponds to variant dbSNP:rs113994097EnsemblClinVar.1
Natural variantiVAR_058887807R → C in SANDO. 1 PublicationCorresponds to variant dbSNP:rs769827124EnsemblClinVar.1
Natural variantiVAR_0236841051G → R in SANDO. 1 PublicationCorresponds to variant dbSNP:rs121918049EnsemblClinVar.1
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis.
See also OMIM:203700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058870232R → G in MTDPS4A. 1 Publication1
Natural variantiVAR_058872244L → P in MTDPS4A. 1 Publication1
Natural variantiVAR_058886767A → D in MTDPS4A. 1 Publication1
Natural variantiVAR_058890879Q → H in MTDPS4A. 1 Publication1
Natural variantiVAR_058891885T → S in MTDPS4A. 1 Publication1
Natural variantiVAR_058892914T → P in MTDPS4A. 3 PublicationsCorresponds to variant dbSNP:rs139590686EnsemblClinVar.1
Natural variantiVAR_058893957A → P in MTDPS4A. 1 Publication1
Natural variantiVAR_0588941096R → H in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs368435864EnsemblClinVar.1
Natural variantiVAR_0588951110H → Y in MTDPS4A. 1 Publication1
Natural variantiVAR_0588961134H → R in MTDPS4A. 1 Publication1
Natural variantiVAR_0650921136E → K in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs56047213EnsemblClinVar.1
Natural variantiVAR_0588981191K → N in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs1085307741Ensembl.1
Mitochondrial DNA depletion syndrome 4B (MTDPS4B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive progressive multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness.
See also OMIM:613662
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023676864N → S in MTDPS4B. 1 PublicationCorresponds to variant dbSNP:rs121918050EnsemblClinVar.1
Leigh syndrome (LS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058871232R → H in LS. 1 PublicationCorresponds to variant dbSNP:rs113994093EnsemblClinVar.1
Spinocerebellar ataxia with epilepsy (SCAE)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases.
See also OMIM:607459

Keywords - Diseasei

Disease mutation, Epilepsy, Leigh syndrome, Neurodegeneration, Neuropathy, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNETi5428
GeneReviewsiPOLG
MalaCardsiPOLG
MIMi157640 phenotype
203700 phenotype
256000 phenotype
258450 phenotype
607459 phenotype
613662 phenotype
OpenTargetsiENSG00000140521
Orphaneti726 Alpers-Huttenlocher syndrome
254892 Autosomal dominant progressive external ophthalmoplegia
254886 Autosomal recessive progressive external ophthalmoplegia
298 Mitochondrial neurogastrointestinal encephalomyopathy
402082 Progressive myoclonic epilepsy type 5
94125 Recessive mitochondrial ataxia syndrome
70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
254881 Spinocerebellar ataxia with epilepsy
PharmGKBiPA33500

Chemistry databases

ChEMBLiCHEMBL2732

Polymorphism and mutation databases

BioMutaiPOLG
DMDMi1706507

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001012701 – 1239DNA polymerase subunit gamma-1Add BLAST1239

Proteomic databases

EPDiP54098
MaxQBiP54098
PaxDbiP54098
PeptideAtlasiP54098
PRIDEiP54098
ProteomicsDBi56642

PTM databases

iPTMnetiP54098
PhosphoSitePlusiP54098

Expressioni

Gene expression databases

BgeeiENSG00000140521 Expressed in 240 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_POLG
ExpressionAtlasiP54098 baseline and differential
GenevisibleiP54098 HS

Organism-specific databases

HPAiHPA056821

Interactioni

Subunit structurei

Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits.

Binary interactionsi

WithEntry#Exp.IntActNotes
POLG2Q9UHN110EBI-852624,EBI-852642

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi111424, 23 interactors
ComplexPortaliCPX-2093 DNA polymerase gamma complex
IntActiP54098, 11 interactors
MINTiP54098
STRINGi9606.ENSP00000268124

Chemistry databases

BindingDBiP54098

Structurei

Secondary structure

11239
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP54098
SMRiP54098
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi43 – 60Poly-GlnAdd BLAST18
Compositional biasi535 – 538Poly-Glu4

Sequence similaritiesi

Belongs to the DNA polymerase type-A family.Curated

Phylogenomic databases

eggNOGiKOG3657 Eukaryota
COG0749 LUCA
GeneTreeiENSGT00390000000453
HOGENOMiHOG000176668
HOVERGENiHBG051400
InParanoidiP54098
KOiK02332
OMAiPKWYKDL
OrthoDBiEOG091G028G
PhylomeDBiP54098

Family and domain databases

InterProiView protein in InterPro
IPR019760 DNA-dir_DNA_pol_A_CS
IPR002297 DNA-dir_DNA_pol_A_mt
IPR001098 DNA-dir_DNA_pol_A_palm_dom
IPR012337 RNaseH-like_sf
PANTHERiPTHR10267 PTHR10267, 1 hit
PfamiView protein in Pfam
PF00476 DNA_pol_A, 1 hit
PIRSFiPIRSF000797 DNA_pol_mt, 1 hit
PRINTSiPR00867 DNAPOLG
SMARTiView protein in SMART
SM00482 POLAc, 1 hit
SUPFAMiSSF53098 SSF53098, 1 hit
PROSITEiView protein in PROSITE
PS00447 DNA_POLYMERASE_A, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 13 potential isoforms that are computationally mapped.Show allAlign All

P54098-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSRLLWRKVA GATVGPGPVP APGRWVSSSV PASDPSDGQR RRQQQQQQQQ 
        60         70         80         90        100
QQQQQPQQPQ VLSSEGGQLR HNPLDIQMLS RGLHEQIFGQ GGEMPGEAAV 
       110        120        130        140        150
RRSVEHLQKH GLWGQPAVPL PDVELRLPPL YGDNLDQHFR LLAQKQSLPY 
       160        170        180        190        200
LEAANLLLQA QLPPKPPAWA WAEGWTRYGP EGEAVPVAIP EERALVFDVE 
       210        220        230        240        250
VCLAEGTCPT LAVAISPSAW YSWCSQRLVE ERYSWTSQLS PADLIPLEVP 
       260        270        280        290        300
TGASSPTQRD WQEQLVVGHN VSFDRAHIRE QYLIQGSRMR FLDTMSMHMA 
       310        320        330        340        350
ISGLSSFQRS LWIAAKQGKH KVQPPTKQGQ KSQRKARRGP AISSWDWLDI 
       360        370        380        390        400
SSVNSLAEVH RLYVGGPPLE KEPRELFVKG TMKDIRENFQ DLMQYCAQDV 
       410        420        430        440        450
WATHEVFQQQ LPLFLERCPH PVTLAGMLEM GVSYLPVNQN WERYLAEAQG 
       460        470        480        490        500
TYEELQREMK KSLMDLANDA CQLLSGERYK EDPWLWDLEW DLQEFKQKKA 
       510        520        530        540        550
KKVKKEPATA SKLPIEGAGA PGDPMDQEDL GPCSEEEEFQ QDVMARACLQ 
       560        570        580        590        600
KLKGTTELLP KRPQHLPGHP GWYRKLCPRL DDPAWTPGPS LLSLQMRVTP 
       610        620        630        640        650
KLMALTWDGF PLHYSERHGW GYLVPGRRDN LAKLPTGTTL ESAGVVCPYR 
       660        670        680        690        700
AIESLYRKHC LEQGKQQLMP QEAGLAEEFL LTDNSAIWQT VEELDYLEVE 
       710        720        730        740        750
AEAKMENLRA AVPGQPLALT ARGGPKDTQP SYHHGNGPYN DVDIPGCWFF 
       760        770        780        790        800
KLPHKDGNSC NVGSPFAKDF LPKMEDGTLQ AGPGGASGPR ALEINKMISF 
       810        820        830        840        850
WRNAHKRISS QMVVWLPRSA LPRAVIRHPD YDEEGLYGAI LPQVVTAGTI 
       860        870        880        890        900
TRRAVEPTWL TASNARPDRV GSELKAMVQA PPGYTLVGAD VDSQELWIAA 
       910        920        930        940        950
VLGDAHFAGM HGCTAFGWMT LQGRKSRGTD LHSKTATTVG ISREHAKIFN 
       960        970        980        990       1000
YGRIYGAGQP FAERLLMQFN HRLTQQEAAE KAQQMYAATK GLRWYRLSDE 
      1010       1020       1030       1040       1050
GEWLVRELNL PVDRTEGGWI SLQDLRKVQR ETARKSQWKK WEVVAERAWK 
      1060       1070       1080       1090       1100
GGTESEMFNK LESIATSDIP RTPVLGCCIS RALEPSAVQE EFMTSRVNWV 
      1110       1120       1130       1140       1150
VQSSAVDYLH LMLVAMKWLF EEFAIDGRFC ISIHDEVRYL VREEDRYRAA 
      1160       1170       1180       1190       1200
LALQITNLLT RCMFAYKLGL NDLPQSVAFF SAVDIDRCLR KEVTMDCKTP 
      1210       1220       1230 
SNPTGMERRY GIPQGEALDI YQIIELTKGS LEKRSQPGP
Length:1,239
Mass (Da):139,562
Last modified:October 1, 1996 - v1
Checksum:i2D9ECCD75AD6E01E
GO

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTU7A0A1B0GTU7_HUMAN
DNA polymerase subunit gamma-1
POLG
910Annotation score:
A0A1B0GVT8A0A1B0GVT8_HUMAN
DNA polymerase subunit gamma-1
POLG
382Annotation score:
H0YCV2H0YCV2_HUMAN
DNA polymerase subunit gamma-1
POLG
233Annotation score:
A0A1B0GTQ6A0A1B0GTQ6_HUMAN
DNA polymerase subunit gamma-1
POLG
482Annotation score:
A0A1B0GW33A0A1B0GW33_HUMAN
DNA polymerase subunit gamma-1
POLG
233Annotation score:
H0YD36H0YD36_HUMAN
DNA polymerase subunit gamma-1
POLG
196Annotation score:
H0YCD2H0YCD2_HUMAN
DNA polymerase subunit gamma-1
POLG
68Annotation score:
H0YDF1H0YDF1_HUMAN
DNA polymerase subunit gamma-1
POLG
69Annotation score:
A0A0D9SFM1A0A0D9SFM1_HUMAN
DNA polymerase subunit gamma-1
POLG
257Annotation score:
H0YE43H0YE43_HUMAN
DNA polymerase subunit gamma-1
POLG
51Annotation score:
There are more potential isoformsShow all

Polymorphismi

The poly-Gln region seems to be polymorphic.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0121533R → P in PEOB1. 2 PublicationsCorresponds to variant dbSNP:rs121918045EnsemblClinVar.1
Natural variantiVAR_01490418P → S. Corresponds to variant dbSNP:rs3087373EnsemblClinVar.1
Natural variantiVAR_01926555Q → QQ1 Publication1
Natural variantiVAR_01926655Q → QQQ1 Publication1
Natural variantiVAR_019267193R → Q1 PublicationCorresponds to variant dbSNP:rs3176162EnsemblClinVar.1
Natural variantiVAR_023663227R → W in PEOB1 and MTDPS4B. 3 PublicationsCorresponds to variant dbSNP:rs121918056EnsemblClinVar.1
Natural variantiVAR_058870232R → G in MTDPS4A. 1 Publication1
Natural variantiVAR_058871232R → H in LS. 1 PublicationCorresponds to variant dbSNP:rs113994093EnsemblClinVar.1
Natural variantiVAR_058872244L → P in MTDPS4A. 1 Publication1
Natural variantiVAR_023664251T → I in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994094EnsemblClinVar.1
Natural variantiVAR_058873268G → A in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs61752784EnsemblClinVar.1
Natural variantiVAR_012154304L → R in PEOB1; also found in SANDO. 3 PublicationsCorresponds to variant dbSNP:rs121918044EnsemblClinVar.1
Natural variantiVAR_058874304L → SANDO in PEOB1. 1
Natural variantiVAR_058875308Q → H in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs745539599EnsemblClinVar.1
Natural variantiVAR_023665309R → L in PEOB1. 2 Publications1
Natural variantiVAR_023666312W → R in PEOB1; sporadic case. 2 Publications1
Natural variantiVAR_014905324P → S. Corresponds to variant dbSNP:rs2307437EnsemblClinVar.1
Natural variantiVAR_058876380G → D in PEOB1. 1 Publication1
Natural variantiVAR_023667431G → V in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_058877463L → F1 PublicationCorresponds to variant dbSNP:rs150828914EnsemblClinVar.1
Natural variantiVAR_012155467A → T in PEOB1, SANDO, SCAE and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 13 PublicationsCorresponds to variant dbSNP:rs113994095EnsemblClinVar.1
Natural variantiVAR_023668468N → D in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs145843073EnsemblClinVar.1
Natural variantiVAR_023669497Q → H in SANDO and SCAE. 2 PublicationsCorresponds to variant dbSNP:rs121918052EnsemblClinVar.1
Natural variantiVAR_058878511S → N in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918055EnsemblClinVar.1
Natural variantiVAR_058879517G → V in SANDO. 1 PublicationCorresponds to variant dbSNP:rs61752783EnsemblClinVar.1
Natural variantiVAR_014906546R → C1 PublicationCorresponds to variant dbSNP:rs2307447EnsemblClinVar.1
Natural variantiVAR_058880562R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs781168350Ensembl.1
Natural variantiVAR_058881574R → W in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs774474723Ensembl.1
Natural variantiVAR_023670579R → W in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs556925652EnsemblClinVar.1
Natural variantiVAR_023671587P → L in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994096EnsemblClinVar.1
Natural variantiVAR_058882603M → L in PEOB1. 1 Publication1
Natural variantiVAR_058883627R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 PublicationCorresponds to variant dbSNP:rs375305567EnsemblClinVar.1
Natural variantiVAR_023672627R → W in SANDO; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs121918046EnsemblClinVar.1
Natural variantiVAR_058884648P → R in PEOB1; sporadic case; also in SANDO. 2 PublicationsCorresponds to variant dbSNP:rs796052906EnsemblClinVar.1
Natural variantiVAR_014907662E → K1 PublicationCorresponds to variant dbSNP:rs2307450EnsemblClinVar.1
Natural variantiVAR_058885737G → R in PEOB1; with absence of progressive external ophthalmoplegia. 1 PublicationCorresponds to variant dbSNP:rs121918054EnsemblClinVar.1
Natural variantiVAR_023673748W → S in SANDO, SCAE and MTDPS4A; unknown pathological significance. 6 PublicationsCorresponds to variant dbSNP:rs113994097EnsemblClinVar.1
Natural variantiVAR_058886767A → D in MTDPS4A. 1 Publication1
Natural variantiVAR_058887807R → C in SANDO. 1 PublicationCorresponds to variant dbSNP:rs769827124EnsemblClinVar.1
Natural variantiVAR_058888807R → P in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_023674831Y → C in PEOA1 and MTDPS4A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs41549716EnsemblClinVar.1
Natural variantiVAR_023675848G → S in PEOB1, MTDPS4A, MTDPS4B and LS. 6 PublicationsCorresponds to variant dbSNP:rs113994098EnsemblClinVar.1
Natural variantiVAR_058889853R → W in PEOB1; with absence of progressive external ophthalmoplegia. 2 PublicationsCorresponds to variant dbSNP:rs121918053EnsemblClinVar.1
Natural variantiVAR_023676864N → S in MTDPS4B. 1 PublicationCorresponds to variant dbSNP:rs121918050EnsemblClinVar.1
Natural variantiVAR_058890879Q → H in MTDPS4A. 1 Publication1
Natural variantiVAR_058891885T → S in MTDPS4A. 1 Publication1
Natural variantiVAR_023677889A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs763393580EnsemblClinVar.1
Natural variantiVAR_058892914T → P in MTDPS4A. 3 PublicationsCorresponds to variant dbSNP:rs139590686EnsemblClinVar.1
Natural variantiVAR_023678923G → D in PEOA1. 1 Publication1
Natural variantiVAR_023679932H → Y in SANDO and PEOB1; sporadic case. 2 PublicationsCorresponds to variant dbSNP:rs121918048EnsemblClinVar.1
Natural variantiVAR_023680943R → H in PEOA1. 1 Publication1
Natural variantiVAR_023681953R → C in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs11546842EnsemblClinVar.1
Natural variantiVAR_012156955Y → C in PEOA1; can underlie parkinsonism; 45-fold decrease in apparent binding affinity for the incoming nucleoside triphosphate; 2-fold less accurate for basepair substitutions than wild-type. 5 PublicationsCorresponds to variant dbSNP:rs113994099EnsemblClinVar.1
Natural variantiVAR_058893957A → P in MTDPS4A. 1 Publication1
Natural variantiVAR_023682957A → S in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918051EnsemblClinVar.1
Natural variantiVAR_0236831047R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs768028281EnsemblClinVar.1
Natural variantiVAR_0236841051G → R in SANDO. 1 PublicationCorresponds to variant dbSNP:rs121918049EnsemblClinVar.1
Natural variantiVAR_0236851076G → V in PEOB1. 1 Publication1
Natural variantiVAR_0236861096R → C in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs201732356EnsemblClinVar.1
Natural variantiVAR_0588941096R → H in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs368435864EnsemblClinVar.1
Natural variantiVAR_0236871104S → C in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_0236881105A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs753410045Ensembl.1
Natural variantiVAR_0236891106V → I in PEOB1. 1 Publication1
Natural variantiVAR_0588951110H → Y in MTDPS4A. 1 Publication1
Natural variantiVAR_0588961134H → R in MTDPS4A. 1 Publication1
Natural variantiVAR_0650921136E → K in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs56047213EnsemblClinVar.1
Natural variantiVAR_0149081142R → W1 PublicationCorresponds to variant dbSNP:rs2307442EnsemblClinVar.1
Natural variantiVAR_0149091143E → G7 PublicationsCorresponds to variant dbSNP:rs2307441EnsemblClinVar.1
Natural variantiVAR_0149101146R → C in PEOB1. 2 PublicationsCorresponds to variant dbSNP:rs2307440EnsemblClinVar.1
Natural variantiVAR_0236901176S → L in PEOA1. 2 PublicationsCorresponds to variant dbSNP:rs776031396EnsemblClinVar.1
Natural variantiVAR_0588971184D → N in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs1131691575Ensembl.1
Natural variantiVAR_0651191186D → H in PEOA1. 1 Publication1
Natural variantiVAR_0588981191K → N in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs1085307741Ensembl.1
Natural variantiVAR_0149111236Q → H6 PublicationsCorresponds to variant dbSNP:rs3087374EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60325 mRNA Translation: AAC50712.1
X98093 mRNA Translation: CAA66719.1
D84103 mRNA Translation: BAA12223.1
AF497906 Genomic DNA Translation: AAM77583.1
BC042571 mRNA Translation: AAH42571.1
BC050559 mRNA Translation: AAH50559.1
CCDSiCCDS10350.1
PIRiG02750
RefSeqiNP_001119603.1, NM_001126131.1
NP_002684.1, NM_002693.2
UniGeneiHs.706868

Genome annotation databases

EnsembliENST00000268124; ENSP00000268124; ENSG00000140521
ENST00000442287; ENSP00000399851; ENSG00000140521
GeneIDi5428
KEGGihsa:5428
UCSCiuc002bnr.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60325 mRNA Translation: AAC50712.1
X98093 mRNA Translation: CAA66719.1
D84103 mRNA Translation: BAA12223.1
AF497906 Genomic DNA Translation: AAM77583.1
BC042571 mRNA Translation: AAH42571.1
BC050559 mRNA Translation: AAH50559.1
CCDSiCCDS10350.1
PIRiG02750
RefSeqiNP_001119603.1, NM_001126131.1
NP_002684.1, NM_002693.2
UniGeneiHs.706868

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3IKMX-ray3.24A/D70-1239[»]
4ZTUX-ray3.30A30-1239[»]
4ZTZX-ray3.44A30-1239[»]
5C51X-ray3.43A25-1239[»]
5C52X-ray3.64A25-1239[»]
5C53X-ray3.57A25-1239[»]
ProteinModelPortaliP54098
SMRiP54098
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111424, 23 interactors
ComplexPortaliCPX-2093 DNA polymerase gamma complex
IntActiP54098, 11 interactors
MINTiP54098
STRINGi9606.ENSP00000268124

Chemistry databases

BindingDBiP54098
ChEMBLiCHEMBL2732

PTM databases

iPTMnetiP54098
PhosphoSitePlusiP54098

Polymorphism and mutation databases

BioMutaiPOLG
DMDMi1706507

Proteomic databases

EPDiP54098
MaxQBiP54098
PaxDbiP54098
PeptideAtlasiP54098
PRIDEiP54098
ProteomicsDBi56642

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268124; ENSP00000268124; ENSG00000140521
ENST00000442287; ENSP00000399851; ENSG00000140521
GeneIDi5428
KEGGihsa:5428
UCSCiuc002bnr.5 human

Organism-specific databases

CTDi5428
DisGeNETi5428
EuPathDBiHostDB:ENSG00000140521.11
GeneCardsiPOLG
GeneReviewsiPOLG
HGNCiHGNC:9179 POLG
HPAiHPA056821
MalaCardsiPOLG
MIMi157640 phenotype
174763 gene
203700 phenotype
256000 phenotype
258450 phenotype
607459 phenotype
613662 phenotype
neXtProtiNX_P54098
OpenTargetsiENSG00000140521
Orphaneti726 Alpers-Huttenlocher syndrome
254892 Autosomal dominant progressive external ophthalmoplegia
254886 Autosomal recessive progressive external ophthalmoplegia
298 Mitochondrial neurogastrointestinal encephalomyopathy
402082 Progressive myoclonic epilepsy type 5
94125 Recessive mitochondrial ataxia syndrome
70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
254881 Spinocerebellar ataxia with epilepsy
PharmGKBiPA33500
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3657 Eukaryota
COG0749 LUCA
GeneTreeiENSGT00390000000453
HOGENOMiHOG000176668
HOVERGENiHBG051400
InParanoidiP54098
KOiK02332
OMAiPKWYKDL
OrthoDBiEOG091G028G
PhylomeDBiP54098

Miscellaneous databases

ChiTaRSiPOLG human
GeneWikiiPOLG
GenomeRNAii5428
PROiPR:P54098
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140521 Expressed in 240 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_POLG
ExpressionAtlasiP54098 baseline and differential
GenevisibleiP54098 HS

Family and domain databases

InterProiView protein in InterPro
IPR019760 DNA-dir_DNA_pol_A_CS
IPR002297 DNA-dir_DNA_pol_A_mt
IPR001098 DNA-dir_DNA_pol_A_palm_dom
IPR012337 RNaseH-like_sf
PANTHERiP