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UniProtKB - P54098 (DPOG1_HUMAN)
Protein
DNA polymerase subunit gamma-1
Gene
POLG
Organism
Homo sapiens (Human)
Status
Functioni
Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.
Catalytic activityi
- EC:2.7.7.7
Cofactori
GO - Molecular functioni
- 3'-5' exonuclease activity Source: FlyBase
- chromatin binding Source: UniProtKB
- DNA binding Source: UniProtKB
- DNA-directed DNA polymerase activity Source: UniProtKB
- protease binding Source: UniProtKB
GO - Biological processi
- base-excision repair, gap-filling Source: MGI
- DNA-dependent DNA replication Source: UniProtKB
- DNA metabolic process Source: ProtInc
- mitochondrial DNA replication Source: ComplexPortal
Keywordsi
Molecular function | DNA-binding, DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase |
Biological process | DNA replication |
Ligand | Magnesium |
Enzyme and pathway databases
PathwayCommonsi | P54098 |
SignaLinki | P54098 |
SIGNORi | P54098 |
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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9179, POLG |
MIMi | 174763, gene |
neXtProti | NX_P54098 |
VEuPathDBi | HostDB:ENSG00000140521 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
- mitochondrion nucleoid 1 Publication
Mitochondrion
- gamma DNA polymerase complex Source: UniProtKB
- mitochondrial matrix Source: ComplexPortal
- mitochondrial nucleoid Source: BHF-UCL
- mitochondrion Source: HPA
Other locations
- protein-containing complex Source: MGI
Keywords - Cellular componenti
Mitochondrion, Mitochondrion nucleoidPathology & Biotechi
Involvement in diseasei
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)7 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_058878 | 511 | S → N in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918055EnsemblClinVar. | 1 | |
Natural variantiVAR_023674 | 831 | Y → C in PEOA1 and MTDPS4A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs41549716EnsemblClinVar. | 1 | |
Natural variantiVAR_023678 | 923 | G → D in PEOA1. 1 Publication | 1 | |
Natural variantiVAR_023680 | 943 | R → H in PEOA1. 1 Publication | 1 | |
Natural variantiVAR_023681 | 953 | R → C in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs11546842EnsemblClinVar. | 1 | |
Natural variantiVAR_012156 | 955 | Y → 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_023682 | 957 | A → S in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918051EnsemblClinVar. | 1 | |
Natural variantiVAR_023690 | 1176 | S → L in PEOA1. 2 PublicationsCorresponds to variant dbSNP:rs776031396EnsemblClinVar. | 1 | |
Natural variantiVAR_065119 | 1186 | D → H in PEOA1. 1 Publication | 1 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1)14 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012153 | 3 | R → P in PEOB1. 2 PublicationsCorresponds to variant dbSNP:rs121918045EnsemblClinVar. | 1 | |
Natural variantiVAR_023663 | 227 | R → W in PEOB1 and MTDPS4B. 3 PublicationsCorresponds to variant dbSNP:rs121918056EnsemblClinVar. | 1 | |
Natural variantiVAR_023664 | 251 | T → I in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994094EnsemblClinVar. | 1 | |
Natural variantiVAR_058873 | 268 | G → A in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs61752784EnsemblClinVar. | 1 | |
Natural variantiVAR_012154 | 304 | L → R in PEOB1; also found in SANDO. 3 PublicationsCorresponds to variant dbSNP:rs121918044EnsemblClinVar. | 1 | |
Natural variantiVAR_058874 | 304 | L → SANDO in PEOB1. | 1 | |
Natural variantiVAR_058875 | 308 | Q → H in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs745539599EnsemblClinVar. | 1 | |
Natural variantiVAR_023665 | 309 | R → L in PEOB1. 2 Publications | 1 | |
Natural variantiVAR_023666 | 312 | W → R in PEOB1; sporadic case. 2 Publications | 1 | |
Natural variantiVAR_058876 | 380 | G → D in PEOB1. 1 Publication | 1 | |
Natural variantiVAR_023667 | 431 | G → V in PEOB1; sporadic case. 1 Publication | 1 | |
Natural variantiVAR_012155 | 467 | A → 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_023668 | 468 | N → D in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs145843073EnsemblClinVar. | 1 | |
Natural variantiVAR_058880 | 562 | R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs781168350EnsemblClinVar. | 1 | |
Natural variantiVAR_058881 | 574 | R → W in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs774474723Ensembl. | 1 | |
Natural variantiVAR_023670 | 579 | R → W in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs556925652EnsemblClinVar. | 1 | |
Natural variantiVAR_023671 | 587 | P → L in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994096EnsemblClinVar. | 1 | |
Natural variantiVAR_058882 | 603 | M → L in PEOB1. 1 Publication | 1 | |
Natural variantiVAR_058884 | 648 | P → R in PEOB1; sporadic case; also in SANDO. 2 PublicationsCorresponds to variant dbSNP:rs796052906EnsemblClinVar. | 1 | |
Natural variantiVAR_058885 | 737 | G → R in PEOB1; with absence of progressive external ophthalmoplegia. 1 PublicationCorresponds to variant dbSNP:rs121918054EnsemblClinVar. | 1 | |
Natural variantiVAR_058888 | 807 | R → P in PEOB1; sporadic case. 1 Publication | 1 | |
Natural variantiVAR_023675 | 848 | G → S in PEOB1, MTDPS4A, MTDPS4B and LS. 6 PublicationsCorresponds to variant dbSNP:rs113994098EnsemblClinVar. | 1 | |
Natural variantiVAR_058889 | 853 | R → W in PEOB1; with absence of progressive external ophthalmoplegia. 2 PublicationsCorresponds to variant dbSNP:rs121918053EnsemblClinVar. | 1 | |
Natural variantiVAR_023677 | 889 | A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs763393580EnsemblClinVar. | 1 | |
Natural variantiVAR_023679 | 932 | H → Y in SANDO and PEOB1; sporadic case. 2 PublicationsCorresponds to variant dbSNP:rs121918048EnsemblClinVar. | 1 | |
Natural variantiVAR_023683 | 1047 | R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs768028281EnsemblClinVar. | 1 | |
Natural variantiVAR_023685 | 1076 | G → V in PEOB1. 1 Publication | 1 | |
Natural variantiVAR_023686 | 1096 | R → C in PEOB1 and MTDPS4A. 2 PublicationsCorresponds to variant dbSNP:rs201732356EnsemblClinVar. | 1 | |
Natural variantiVAR_023687 | 1104 | S → C in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs1010372555Ensembl. | 1 | |
Natural variantiVAR_023688 | 1105 | A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs753410045Ensembl. | 1 | |
Natural variantiVAR_023689 | 1106 | V → I in PEOB1. 1 Publication | 1 | |
Natural variantiVAR_014910 | 1146 | R → C in PEOB1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs2307440EnsemblClinVar. | 1 | |
Natural variantiVAR_058897 | 1184 | D → N in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs1131691575EnsemblClinVar. | 1 |
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)9 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023669 | 497 | Q → H in SANDO and SCAE. 2 PublicationsCorresponds to variant dbSNP:rs121918052EnsemblClinVar. | 1 | |
Natural variantiVAR_058879 | 517 | G → V in SANDO. 1 PublicationCorresponds to variant dbSNP:rs61752783EnsemblClinVar. | 1 | |
Natural variantiVAR_058883 | 627 | R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 PublicationCorresponds to variant dbSNP:rs375305567EnsemblClinVar. | 1 | |
Natural variantiVAR_023672 | 627 | R → W in SANDO; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs121918046EnsemblClinVar. | 1 | |
Natural variantiVAR_023673 | 748 | W → S in SANDO, SCAE and MTDPS4A; unknown pathological significance. 6 PublicationsCorresponds to variant dbSNP:rs113994097EnsemblClinVar. | 1 | |
Natural variantiVAR_058887 | 807 | R → C in SANDO. 1 PublicationCorresponds to variant dbSNP:rs769827124EnsemblClinVar. | 1 | |
Natural variantiVAR_023679 | 932 | H → Y in SANDO and PEOB1; sporadic case. 2 PublicationsCorresponds to variant dbSNP:rs121918048EnsemblClinVar. | 1 | |
Natural variantiVAR_023684 | 1051 | G → R in SANDO. 1 PublicationCorresponds to variant dbSNP:rs121918049EnsemblClinVar. | 1 |
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)7 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_058870 | 232 | R → G in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_058872 | 244 | L → P in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_012155 | 467 | A → 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_023673 | 748 | W → S in SANDO, SCAE and MTDPS4A; unknown pathological significance. 6 PublicationsCorresponds to variant dbSNP:rs113994097EnsemblClinVar. | 1 | |
Natural variantiVAR_058886 | 767 | A → D in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_023674 | 831 | Y → C in PEOA1 and MTDPS4A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs41549716EnsemblClinVar. | 1 | |
Natural variantiVAR_058890 | 879 | Q → H in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_058891 | 885 | T → S in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_058892 | 914 | T → P in MTDPS4A. 3 PublicationsCorresponds to variant dbSNP:rs139590686EnsemblClinVar. | 1 | |
Natural variantiVAR_058893 | 957 | A → P in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_023686 | 1096 | R → C in PEOB1 and MTDPS4A. 2 PublicationsCorresponds to variant dbSNP:rs201732356EnsemblClinVar. | 1 | |
Natural variantiVAR_058894 | 1096 | R → H in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs368435864EnsemblClinVar. | 1 | |
Natural variantiVAR_058895 | 1110 | H → Y in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_058896 | 1134 | H → R in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_065092 | 1136 | E → K in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs56047213EnsemblClinVar. | 1 | |
Natural variantiVAR_058898 | 1191 | K → N in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs1085307741EnsemblClinVar. | 1 |
Mitochondrial DNA depletion syndrome 4B (MTDPS4B)2 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023663 | 227 | R → W in PEOB1 and MTDPS4B. 3 PublicationsCorresponds to variant dbSNP:rs121918056EnsemblClinVar. | 1 | |
Natural variantiVAR_023664 | 251 | T → I in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994094EnsemblClinVar. | 1 | |
Natural variantiVAR_023671 | 587 | P → L in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994096EnsemblClinVar. | 1 | |
Natural variantiVAR_023676 | 864 | N → S in MTDPS4B. 1 PublicationCorresponds to variant dbSNP:rs121918050EnsemblClinVar. | 1 |
Leigh syndrome (LS)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_058871 | 232 | R → H in LS. 1 PublicationCorresponds to variant dbSNP:rs113994093EnsemblClinVar. | 1 | |
Natural variantiVAR_023675 | 848 | G → S in PEOB1, MTDPS4A, MTDPS4B and LS. 6 PublicationsCorresponds to variant dbSNP:rs113994098EnsemblClinVar. | 1 |
Spinocerebellar ataxia with epilepsy (SCAE)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023669 | 497 | Q → H in SANDO and SCAE. 2 PublicationsCorresponds to variant dbSNP:rs121918052EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Epilepsy, Leigh syndrome, Neurodegeneration, Neuropathy, Primary mitochondrial disease, Progressive external ophthalmoplegiaOrganism-specific databases
DisGeNETi | 5428 |
GeneReviewsi | POLG |
MalaCardsi | POLG |
MIMi | 157640, phenotype 203700, phenotype 256000, phenotype 258450, phenotype 607459, phenotype 613662, phenotype |
OpenTargetsi | ENSG00000140521 |
Orphaneti | 726, 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 |
PharmGKBi | PA33500 |
Miscellaneous databases
Pharosi | P54098, Tchem |
Chemistry databases
ChEMBLi | CHEMBL2732 |
DrugCentrali | P54098 |
Genetic variation databases
BioMutai | POLG |
DMDMi | 1706507 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000101270 | 1 – 1239 | DNA polymerase subunit gamma-1Add BLAST | 1239 |
Proteomic databases
EPDi | P54098 |
jPOSTi | P54098 |
MassIVEi | P54098 |
MaxQBi | P54098 |
PaxDbi | P54098 |
PeptideAtlasi | P54098 |
PRIDEi | P54098 |
ProteomicsDBi | 56642 |
PTM databases
iPTMneti | P54098 |
PhosphoSitePlusi | P54098 |
Expressioni
Gene expression databases
Bgeei | ENSG00000140521, Expressed in tendon of biceps brachii and 251 other tissues |
ExpressionAtlasi | P54098, baseline and differential |
Genevisiblei | P54098, HS |
Organism-specific databases
HPAi | ENSG00000140521, Low tissue specificity |
Interactioni
Subunit structurei
Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits (By similarity).
Interacts with TTC3 (PubMed:29290964).
By similarity1 PublicationBinary interactionsi
P54098
With | #Exp. | IntAct |
---|---|---|
POLG2 [Q9UHN1] | 11 | EBI-852624,EBI-852642 |
GO - Molecular functioni
- protease binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 111424, 97 interactors |
ComplexPortali | CPX-2093, Mitochondrial DNA polymerase gamma complex |
IntActi | P54098, 27 interactors |
MINTi | P54098 |
STRINGi | 9606.ENSP00000268124 |
Chemistry databases
BindingDBi | P54098 |
Miscellaneous databases
RNActi | P54098, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P54098 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 68 | DisorderedSequence analysisAdd BLAST | 68 | |
Regioni | 318 – 340 | DisorderedSequence analysisAdd BLAST | 23 | |
Regioni | 506 – 531 | DisorderedSequence analysisAdd BLAST | 26 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 29 – 67 | Polar residuesSequence analysisAdd BLAST | 39 |
Sequence similaritiesi
Belongs to the DNA polymerase type-A family.Curated
Phylogenomic databases
eggNOGi | KOG3657, Eukaryota |
GeneTreei | ENSGT00390000000453 |
HOGENOMi | CLU_001524_2_2_1 |
InParanoidi | P54098 |
OMAi | LWLWDED |
OrthoDBi | 86850at2759 |
PhylomeDBi | P54098 |
Family and domain databases
InterProi | View 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 IPR043502, DNA/RNA_pol_sf IPR041336, DNApol_Exo IPR012337, RNaseH-like_sf |
PANTHERi | PTHR10267, PTHR10267, 1 hit |
Pfami | View protein in Pfam PF00476, DNA_pol_A, 1 hit PF18136, DNApol_Exo, 1 hit |
PIRSFi | PIRSF000797, DNA_pol_mt, 1 hit |
PRINTSi | PR00867, DNAPOLG |
SMARTi | View protein in SMART SM00482, POLAc, 1 hit |
SUPFAMi | SSF53098, SSF53098, 1 hit SSF56672, SSF56672, 1 hit |
PROSITEi | View protein in PROSITE PS00447, DNA_POLYMERASE_A, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 16 potential isoforms that are computationally mapped.Show allAlign All
P54098-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3IS91 | PLGRF_HUMAN | POLG alternative reading frame | POLG | 260 | Annotation score: | ||
A0A1B0GTU7 | A0A1B0GTU7_HUMAN | DNA polymerase subunit gamma-1 | POLG | 910 | Annotation score: | ||
A0A1B0GVT8 | A0A1B0GVT8_HUMAN | DNA polymerase subunit gamma-1 | POLG | 995 | Annotation score: | ||
H0YD36 | H0YD36_HUMAN | DNA polymerase subunit gamma-1 | POLG | 1,035 | Annotation score: | ||
A0A1B0GTQ6 | A0A1B0GTQ6_HUMAN | DNA-directed DNA polymerase | POLG | 482 | Annotation score: | ||
H0YCV2 | H0YCV2_HUMAN | DNA-directed DNA polymerase | POLG | 233 | Annotation score: | ||
A0A1B0GW33 | A0A1B0GW33_HUMAN | DNA-directed DNA polymerase | POLG | 233 | Annotation score: | ||
A0A0D9SFM1 | A0A0D9SFM1_HUMAN | DNA-directed DNA polymerase | POLG | 257 | Annotation score: | ||
A0A590UK63 | A0A590UK63_HUMAN | DNA-directed DNA polymerase | POLG | 286 | Annotation score: | ||
H0YDF1 | H0YDF1_HUMAN | DNA-directed DNA polymerase | POLG | 69 | Annotation score: | ||
There are more potential isoformsShow all |
Polymorphismi
The poly-Gln region seems to be polymorphic.
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012153 | 3 | R → P in PEOB1. 2 PublicationsCorresponds to variant dbSNP:rs121918045EnsemblClinVar. | 1 | |
Natural variantiVAR_014904 | 18 | P → S. Corresponds to variant dbSNP:rs3087373EnsemblClinVar. | 1 | |
Natural variantiVAR_019265 | 55 | Q → QQ1 Publication | 1 | |
Natural variantiVAR_019266 | 55 | Q → QQQ1 Publication | 1 | |
Natural variantiVAR_019267 | 193 | R → Q1 PublicationCorresponds to variant dbSNP:rs3176162EnsemblClinVar. | 1 | |
Natural variantiVAR_023663 | 227 | R → W in PEOB1 and MTDPS4B. 3 PublicationsCorresponds to variant dbSNP:rs121918056EnsemblClinVar. | 1 | |
Natural variantiVAR_058870 | 232 | R → G in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_058871 | 232 | R → H in LS. 1 PublicationCorresponds to variant dbSNP:rs113994093EnsemblClinVar. | 1 | |
Natural variantiVAR_058872 | 244 | L → P in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_023664 | 251 | T → I in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994094EnsemblClinVar. | 1 | |
Natural variantiVAR_058873 | 268 | G → A in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs61752784EnsemblClinVar. | 1 | |
Natural variantiVAR_012154 | 304 | L → R in PEOB1; also found in SANDO. 3 PublicationsCorresponds to variant dbSNP:rs121918044EnsemblClinVar. | 1 | |
Natural variantiVAR_058874 | 304 | L → SANDO in PEOB1. | 1 | |
Natural variantiVAR_058875 | 308 | Q → H in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs745539599EnsemblClinVar. | 1 | |
Natural variantiVAR_023665 | 309 | R → L in PEOB1. 2 Publications | 1 | |
Natural variantiVAR_023666 | 312 | W → R in PEOB1; sporadic case. 2 Publications | 1 | |
Natural variantiVAR_014905 | 324 | P → S. Corresponds to variant dbSNP:rs2307437EnsemblClinVar. | 1 | |
Natural variantiVAR_058876 | 380 | G → D in PEOB1. 1 Publication | 1 | |
Natural variantiVAR_023667 | 431 | G → V in PEOB1; sporadic case. 1 Publication | 1 | |
Natural variantiVAR_058877 | 463 | L → F1 PublicationCorresponds to variant dbSNP:rs150828914EnsemblClinVar. | 1 | |
Natural variantiVAR_012155 | 467 | A → 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_023668 | 468 | N → D in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs145843073EnsemblClinVar. | 1 | |
Natural variantiVAR_023669 | 497 | Q → H in SANDO and SCAE. 2 PublicationsCorresponds to variant dbSNP:rs121918052EnsemblClinVar. | 1 | |
Natural variantiVAR_058878 | 511 | S → N in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918055EnsemblClinVar. | 1 | |
Natural variantiVAR_058879 | 517 | G → V in SANDO. 1 PublicationCorresponds to variant dbSNP:rs61752783EnsemblClinVar. | 1 | |
Natural variantiVAR_014906 | 546 | R → C1 PublicationCorresponds to variant dbSNP:rs2307447EnsemblClinVar. | 1 | |
Natural variantiVAR_058880 | 562 | R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs781168350EnsemblClinVar. | 1 | |
Natural variantiVAR_058881 | 574 | R → W in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs774474723Ensembl. | 1 | |
Natural variantiVAR_023670 | 579 | R → W in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs556925652EnsemblClinVar. | 1 | |
Natural variantiVAR_023671 | 587 | P → L in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994096EnsemblClinVar. | 1 | |
Natural variantiVAR_058882 | 603 | M → L in PEOB1. 1 Publication | 1 | |
Natural variantiVAR_058883 | 627 | R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 PublicationCorresponds to variant dbSNP:rs375305567EnsemblClinVar. | 1 | |
Natural variantiVAR_023672 | 627 | R → W in SANDO; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs121918046EnsemblClinVar. | 1 | |
Natural variantiVAR_058884 | 648 | P → R in PEOB1; sporadic case; also in SANDO. 2 PublicationsCorresponds to variant dbSNP:rs796052906EnsemblClinVar. | 1 | |
Natural variantiVAR_014907 | 662 | E → K1 PublicationCorresponds to variant dbSNP:rs2307450EnsemblClinVar. | 1 | |
Natural variantiVAR_058885 | 737 | G → R in PEOB1; with absence of progressive external ophthalmoplegia. 1 PublicationCorresponds to variant dbSNP:rs121918054EnsemblClinVar. | 1 | |
Natural variantiVAR_023673 | 748 | W → S in SANDO, SCAE and MTDPS4A; unknown pathological significance. 6 PublicationsCorresponds to variant dbSNP:rs113994097EnsemblClinVar. | 1 | |
Natural variantiVAR_058886 | 767 | A → D in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_058887 | 807 | R → C in SANDO. 1 PublicationCorresponds to variant dbSNP:rs769827124EnsemblClinVar. | 1 | |
Natural variantiVAR_058888 | 807 | R → P in PEOB1; sporadic case. 1 Publication | 1 | |
Natural variantiVAR_023674 | 831 | Y → C in PEOA1 and MTDPS4A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs41549716EnsemblClinVar. | 1 | |
Natural variantiVAR_023675 | 848 | G → S in PEOB1, MTDPS4A, MTDPS4B and LS. 6 PublicationsCorresponds to variant dbSNP:rs113994098EnsemblClinVar. | 1 | |
Natural variantiVAR_058889 | 853 | R → W in PEOB1; with absence of progressive external ophthalmoplegia. 2 PublicationsCorresponds to variant dbSNP:rs121918053EnsemblClinVar. | 1 | |
Natural variantiVAR_023676 | 864 | N → S in MTDPS4B. 1 PublicationCorresponds to variant dbSNP:rs121918050EnsemblClinVar. | 1 | |
Natural variantiVAR_058890 | 879 | Q → H in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_058891 | 885 | T → S in MTDPS4A. 1 Publication | 1 | |
Natural variantiVAR_023677 | 889 | A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs763393580EnsemblClinVar. | 1 | |
Natural variantiVAR_058892 | 914 | T → P in MTDPS4A. 3 PublicationsCorresponds to variant dbSNP:rs139590686EnsemblClinVar. | 1 | |
Natural variantiVAR_023678 | 923 | G → D in PEOA1. 1 Publication | 1 | |
Natural variantiVAR_023679 | 932 | H → Y in SANDO and PEOB1; sporadic case. 2 PublicationsCorresponds to variant dbSNP:rs121918048EnsemblClinVar. | 1 | |
Natural variantiVAR_023680 | 943 | R → H in PEOA1. 1 Publication | 1 | |
Natural variantiVAR_023681 | 953 | R → C in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs11546842EnsemblClinVar. | 1 | |
Natural variantiVAR_012156 | 955 | Y → 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 Publications |