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P54098

- DPOG1_HUMAN

UniProt

P54098 - DPOG1_HUMAN

Protein

DNA polymerase subunit gamma-1

Gene

POLG

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 160 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    Functioni

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

    Catalytic activityi

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

    Cofactori

    Magnesium.

    GO - Molecular functioni

    1. chromatin binding Source: UniProtKB
    2. DNA binding Source: UniProtKB-KW
    3. DNA-directed DNA polymerase activity Source: MGI
    4. exonuclease activity Source: Ensembl
    5. protease binding Source: UniProtKB
    6. protein binding Source: IntAct

    GO - Biological processi

    1. aging Source: Ensembl
    2. base-excision repair, gap-filling Source: MGI
    3. cell death Source: UniProtKB-KW
    4. DNA-dependent DNA replication Source: ProtInc
    5. DNA metabolic process Source: ProtInc
    6. mitochondrial DNA replication Source: Ensembl

    Keywords - Molecular functioni

    DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase

    Keywords - Biological processi

    DNA replication

    Keywords - Ligandi

    DNA-binding, Magnesium

    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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:9179. POLG.

    Subcellular locationi

    Mitochondrion 1 Publication. Mitochondrion matrixmitochondrion nucleoid 1 Publication

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. gamma DNA polymerase complex Source: Ensembl
    3. mitochondrial inner membrane Source: Ensembl
    4. mitochondrial nucleoid Source: BHF-UCL
    5. mitochondrion Source: ProtInc

    Keywords - Cellular componenti

    Mitochondrion, Mitochondrion nucleoid

    Pathology & Biotechi

    Involvement in diseasei

    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]: A disorder is 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti511 – 5111S → N in PEOA1. 1 Publication
    VAR_058878
    Natural varianti831 – 8311Y → C in PEOA1 and MTDPS4A. 2 Publications
    Corresponds to variant rs4154971 [ dbSNP | Ensembl ].
    VAR_023674
    Natural varianti923 – 9231G → D in PEOA1. 1 Publication
    VAR_023678
    Natural varianti943 – 9431R → H in PEOA1. 1 Publication
    VAR_023680
    Natural varianti953 – 9531R → C in PEOA1. 1 Publication
    Corresponds to variant rs11546842 [ dbSNP | Ensembl ].
    VAR_023681
    Natural varianti955 – 9551Y → 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. 4 Publications
    VAR_012156
    Natural varianti957 – 9571A → S in PEOA1. 1 Publication
    VAR_023682
    Natural varianti1176 – 11761S → L in PEOA1. 2 Publications
    VAR_023690
    Natural varianti1186 – 11861D → H in PEOA1. 1 Publication
    VAR_065119
    Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]: A severe form of progressive external ophthalmoplegia. It is clinically more heterogeneous than the autosomal dominant forms.14 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31R → P in PEOB. 2 Publications
    VAR_012153
    Natural varianti227 – 2271R → W in PEOB and MTDPS4B. 3 Publications
    VAR_023663
    Natural varianti251 – 2511T → I in PEOB, MTDPS4A and MTDPS4B. 5 Publications
    Corresponds to variant rs113994094 [ dbSNP | Ensembl ].
    VAR_023664
    Natural varianti268 – 2681G → A in PEOB; sporadic case. 1 Publication
    Corresponds to variant rs61752784 [ dbSNP | Ensembl ].
    VAR_058873
    Natural varianti304 – 3041L → R in PEOB; also found in SANDO. 3 Publications
    VAR_012154
    Natural varianti304 – 3041L → SANDO in PEOB.
    VAR_058874
    Natural varianti308 – 3081Q → H in PEOB; sporadic case. 1 Publication
    VAR_058875
    Natural varianti309 – 3091R → L in PEOB. 2 Publications
    VAR_023665
    Natural varianti312 – 3121W → R in PEOB; sporadic case. 2 Publications
    VAR_023666
    Natural varianti380 – 3801G → D in PEOB. 1 Publication
    VAR_058876
    Natural varianti431 – 4311G → V in PEOB; sporadic case. 1 Publication
    VAR_023667
    Natural varianti467 – 4671A → T in PEOB, SANDO and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 12 Publications
    Corresponds to variant rs113994095 [ dbSNP | Ensembl ].
    VAR_012155
    Natural varianti468 – 4681N → D in PEOB. 1 Publication
    Corresponds to variant rs145843073 [ dbSNP | Ensembl ].
    VAR_023668
    Natural varianti562 – 5621R → Q in PEOB; sporadic case. 1 Publication
    VAR_058880
    Natural varianti574 – 5741R → W in PEOB; sporadic case. 1 Publication
    VAR_058881
    Natural varianti579 – 5791R → W in PEOB; autosomal recessive. 1 Publication
    VAR_023670
    Natural varianti587 – 5871P → L in PEOB, MTDPS4A and MTDPS4B. 6 Publications
    Corresponds to variant rs113994096 [ dbSNP | Ensembl ].
    VAR_023671
    Natural varianti603 – 6031M → L in PEOB. 1 Publication
    VAR_058882
    Natural varianti648 – 6481P → R in PEOB; sporadic case; also in SANDO. 2 Publications
    VAR_058884
    Natural varianti737 – 7371G → R in PEOB; with absence of progressive external ophthalmoplegia. 1 Publication
    Corresponds to variant rs121918054 [ dbSNP | Ensembl ].
    VAR_058885
    Natural varianti807 – 8071R → P in PEOB; sporadic case. 1 Publication
    VAR_058888
    Natural varianti848 – 8481G → S in PEOB, MTDPS4A, MTDPS4B and LS. 6 Publications
    VAR_023675
    Natural varianti853 – 8531R → W in PEOB; with absence of progressive external ophthalmoplegia. 2 Publications
    VAR_058889
    Natural varianti889 – 8891A → T in PEOB. 1 Publication
    VAR_023677
    Natural varianti932 – 9321H → Y in SANDO and PEOB; sporadic case. 2 Publications
    VAR_023679
    Natural varianti1047 – 10471R → Q in PEOB; sporadic case. 1 Publication
    VAR_023683
    Natural varianti1076 – 10761G → V in PEOB. 1 Publication
    VAR_023685
    Natural varianti1096 – 10961R → C in PEOB; sporadic case. 1 Publication
    VAR_023686
    Natural varianti1104 – 11041S → C in PEOB; sporadic case. 1 Publication
    VAR_023687
    Natural varianti1105 – 11051A → T in PEOB. 1 Publication
    VAR_023688
    Natural varianti1106 – 11061V → I in PEOB. 1 Publication
    VAR_023689
    Natural varianti1146 – 11461R → C in PEOB. 2 Publications
    Corresponds to variant rs2307440 [ dbSNP | Ensembl ].
    VAR_014910
    Natural varianti1184 – 11841D → N in PEOB. 1 Publication
    VAR_058897
    Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]: A 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. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti304 – 3041L → R in PEOB; also found in SANDO. 3 Publications
    VAR_012154
    Natural varianti467 – 4671A → T in PEOB, SANDO and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 12 Publications
    Corresponds to variant rs113994095 [ dbSNP | Ensembl ].
    VAR_012155
    Natural varianti497 – 4971Q → H in SANDO; atypical form with spinocerebellar ataxia and epilepsy. 1 Publication
    VAR_023669
    Natural varianti517 – 5171G → V in SANDO. 1 Publication
    Corresponds to variant rs61752783 [ dbSNP | Ensembl ].
    VAR_058879
    Natural varianti627 – 6271R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 Publication
    VAR_058883
    Natural varianti627 – 6271R → W in SANDO; sporadic case. 1 Publication
    VAR_023672
    Natural varianti648 – 6481P → R in PEOB; sporadic case; also in SANDO. 2 Publications
    VAR_058884
    Natural varianti748 – 7481W → S in SANDO and MTDPS4A; some patients manifest an atypical SANDO form with spinocerebellar ataxia and epilepsy. 6 Publications
    VAR_023673
    Natural varianti807 – 8071R → C in SANDO. 1 Publication
    VAR_058887
    Natural varianti932 – 9321H → Y in SANDO and PEOB; sporadic case. 2 Publications
    VAR_023679
    Natural varianti1051 – 10511G → R in SANDO. 1 Publication
    VAR_023684
    Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]: An 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.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti232 – 2321R → G in MTDPS4A. 1 Publication
    VAR_058870
    Natural varianti244 – 2441L → P in MTDPS4A. 1 Publication
    VAR_058872
    Natural varianti251 – 2511T → I in PEOB, MTDPS4A and MTDPS4B. 5 Publications
    Corresponds to variant rs113994094 [ dbSNP | Ensembl ].
    VAR_023664
    Natural varianti467 – 4671A → T in PEOB, SANDO and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 12 Publications
    Corresponds to variant rs113994095 [ dbSNP | Ensembl ].
    VAR_012155
    Natural varianti587 – 5871P → L in PEOB, MTDPS4A and MTDPS4B. 6 Publications
    Corresponds to variant rs113994096 [ dbSNP | Ensembl ].
    VAR_023671
    Natural varianti748 – 7481W → S in SANDO and MTDPS4A; some patients manifest an atypical SANDO form with spinocerebellar ataxia and epilepsy. 6 Publications
    VAR_023673
    Natural varianti767 – 7671A → D in MTDPS4A. 1 Publication
    VAR_058886
    Natural varianti831 – 8311Y → C in PEOA1 and MTDPS4A. 2 Publications
    Corresponds to variant rs4154971 [ dbSNP | Ensembl ].
    VAR_023674
    Natural varianti848 – 8481G → S in PEOB, MTDPS4A, MTDPS4B and LS. 6 Publications
    VAR_023675
    Natural varianti879 – 8791Q → H in MTDPS4A. 1 Publication
    VAR_058890
    Natural varianti885 – 8851T → S in MTDPS4A. 1 Publication
    VAR_058891
    Natural varianti914 – 9141T → P in MTDPS4A. 3 Publications
    VAR_058892
    Natural varianti957 – 9571A → P in MTDPS4A. 1 Publication
    VAR_058893
    Natural varianti1096 – 10961R → H in MTDPS4A. 1 Publication
    VAR_058894
    Natural varianti1110 – 11101H → Y in MTDPS4A. 1 Publication
    VAR_058895
    Natural varianti1134 – 11341H → R in MTDPS4A. 1 Publication
    VAR_058896
    Natural varianti1136 – 11361E → K in MTDPS4A. 1 Publication
    VAR_065092
    Natural varianti1191 – 11911K → N in MTDPS4A. 1 Publication
    VAR_058898
    Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]: An 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti227 – 2271R → W in PEOB and MTDPS4B. 3 Publications
    VAR_023663
    Natural varianti251 – 2511T → I in PEOB, MTDPS4A and MTDPS4B. 5 Publications
    Corresponds to variant rs113994094 [ dbSNP | Ensembl ].
    VAR_023664
    Natural varianti587 – 5871P → L in PEOB, MTDPS4A and MTDPS4B. 6 Publications
    Corresponds to variant rs113994096 [ dbSNP | Ensembl ].
    VAR_023671
    Natural varianti848 – 8481G → S in PEOB, MTDPS4A, MTDPS4B and LS. 6 Publications
    VAR_023675
    Natural varianti864 – 8641N → S in MTDPS4B. 1 Publication
    VAR_023676
    Leigh syndrome (LS) [MIM:256000]: An 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti232 – 2321R → H in LS. 1 Publication
    VAR_058871
    Natural varianti848 – 8481G → S in PEOB, MTDPS4A, MTDPS4B and LS. 6 Publications
    VAR_023675

    Keywords - Diseasei

    Disease mutation, Leigh syndrome, Neurodegeneration, Neuropathy, Progressive external ophthalmoplegia

    Organism-specific databases

    MIMi157640. phenotype.
    203700. phenotype.
    256000. phenotype.
    258450. phenotype.
    607459. phenotype.
    613662. phenotype.
    Orphaneti726. Alpers syndrome.
    254892. Autosomal dominant progressive external ophthalmoplegia.
    254886. Autosomal recessive progressive external ophthalmoplegia.
    298. Mitochondrial neurogastrointestinal encephalomyopathy.
    94125. Recessive mitochondrial ataxia syndrome.
    70595. Sensory ataxic neuropathy - dysarthria - ophthalmoparesis.
    254881. Spinocerebellar ataxia with epilepsy.
    PharmGKBiPA33500.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12391239DNA polymerase subunit gamma-1PRO_0000101270Add
    BLAST

    Proteomic databases

    MaxQBiP54098.
    PaxDbiP54098.
    PeptideAtlasiP54098.
    PRIDEiP54098.

    PTM databases

    PhosphoSiteiP54098.

    Expressioni

    Gene expression databases

    ArrayExpressiP54098.
    BgeeiP54098.
    CleanExiHS_POLG.
    GenevestigatoriP54098.

    Organism-specific databases

    HPAiHPA056821.

    Interactioni

    Subunit structurei

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

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    POLG2Q9UHN19EBI-852624,EBI-852642

    Protein-protein interaction databases

    BioGridi111424. 2 interactions.
    IntActiP54098. 5 interactions.
    MINTiMINT-4531455.
    STRINGi9606.ENSP00000268124.

    Structurei

    Secondary structure

    1
    1239
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi75 – 773
    Helixi83 – 864
    Helixi97 – 1059
    Turni106 – 1116
    Beta strandi114 – 1163
    Helixi135 – 15925
    Beta strandi179 – 1813
    Beta strandi192 – 1954
    Beta strandi207 – 2104
    Helixi224 – 2274
    Beta strandi235 – 2373
    Beta strandi240 – 2423
    Turni243 – 2475
    Helixi248 – 2514
    Beta strandi254 – 2563
    Beta strandi260 – 2623
    Beta strandi271 – 2744
    Helixi277 – 2793
    Helixi296 – 3016
    Helixi306 – 31712
    Helixi354 – 3607
    Beta strandi373 – 3764
    Turni377 – 3804
    Helixi385 – 41531
    Helixi422 – 43110
    Helixi440 – 47334
    Helixi483 – 4908
    Beta strandi519 – 5213
    Beta strandi537 – 5404
    Helixi541 – 55818
    Beta strandi559 – 5613
    Beta strandi563 – 5686
    Beta strandi587 – 5893
    Turni592 – 5954
    Turni597 – 6048
    Beta strandi616 – 6183
    Beta strandi627 – 6293
    Helixi636 – 6449
    Helixi647 – 67125
    Helixi716 – 7216
    Turni738 – 7403
    Turni755 – 7573
    Helixi770 – 7756
    Beta strandi776 – 7783
    Beta strandi784 – 7863
    Helixi787 – 81024
    Beta strandi818 – 8214
    Turni822 – 8298
    Beta strandi833 – 8353
    Turni849 – 8513
    Helixi859 – 8613
    Helixi875 – 8784
    Beta strandi884 – 8907
    Helixi894 – 90613
    Beta strandi907 – 9093
    Turni914 – 9196
    Turni924 – 9263
    Helixi929 – 9379
    Helixi944 – 95512
    Helixi960 – 96910
    Helixi974 – 99017
    Beta strandi992 – 9954
    Beta strandi997 – 9993
    Helixi1001 – 10099
    Beta strandi1010 – 10134
    Helixi1027 – 10304
    Beta strandi1033 – 10353
    Helixi1037 – 10404
    Turni1041 – 10466
    Helixi1047 – 105812
    Beta strandi1061 – 10655
    Beta strandi1068 – 10703
    Helixi1093 – 112129
    Beta strandi1122 – 11243
    Beta strandi1136 – 11438
    Helixi1146 – 116823
    Helixi1175 – 11784
    Beta strandi1184 – 11885
    Helixi1193 – 11953
    Beta strandi1200 – 12034
    Beta strandi1207 – 12093
    Helixi1220 – 12278
    Beta strandi1232 – 12354

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3IKMX-ray3.24A/D70-1239[»]
    ProteinModelPortaliP54098.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi43 – 6018Poly-GlnAdd
    BLAST
    Compositional biasi535 – 5384Poly-Glu

    Sequence similaritiesi

    Belongs to the DNA polymerase type-A family.Curated

    Phylogenomic databases

    eggNOGiCOG0749.
    HOGENOMiHOG000176668.
    HOVERGENiHBG051400.
    InParanoidiP54098.
    KOiK02332.
    OMAiDWSGQEI.
    OrthoDBiEOG7T4MJC.
    PhylomeDBiP54098.

    Family and domain databases

    Gene3Di3.30.420.10. 2 hits.
    InterProiIPR019760. DNA-dir_DNA_pol_A_CS.
    IPR002297. DNA-dir_DNA_pol_A_mt.
    IPR016265. DNA-dir_DNA_pol_A_mt_sub.
    IPR001098. DNA-dir_DNA_pol_A_palm_dom.
    IPR012337. RNaseH-like_dom.
    [Graphical view]
    PANTHERiPTHR10267. PTHR10267. 1 hit.
    PfamiPF00476. DNA_pol_A. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000797. DNA_pol_mt. 1 hit.
    PRINTSiPR00867. DNAPOLG.
    SMARTiSM00482. POLAc. 1 hit.
    [Graphical view]
    SUPFAMiSSF53098. SSF53098. 3 hits.
    PROSITEiPS00447. DNA_POLYMERASE_A. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P54098-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSRLLWRKVA GATVGPGPVP APGRWVSSSV PASDPSDGQR RRQQQQQQQQ     50
    QQQQQPQQPQ VLSSEGGQLR HNPLDIQMLS RGLHEQIFGQ GGEMPGEAAV 100
    RRSVEHLQKH GLWGQPAVPL PDVELRLPPL YGDNLDQHFR LLAQKQSLPY 150
    LEAANLLLQA QLPPKPPAWA WAEGWTRYGP EGEAVPVAIP EERALVFDVE 200
    VCLAEGTCPT LAVAISPSAW YSWCSQRLVE ERYSWTSQLS PADLIPLEVP 250
    TGASSPTQRD WQEQLVVGHN VSFDRAHIRE QYLIQGSRMR FLDTMSMHMA 300
    ISGLSSFQRS LWIAAKQGKH KVQPPTKQGQ KSQRKARRGP AISSWDWLDI 350
    SSVNSLAEVH RLYVGGPPLE KEPRELFVKG TMKDIRENFQ DLMQYCAQDV 400
    WATHEVFQQQ LPLFLERCPH PVTLAGMLEM GVSYLPVNQN WERYLAEAQG 450
    TYEELQREMK KSLMDLANDA CQLLSGERYK EDPWLWDLEW DLQEFKQKKA 500
    KKVKKEPATA SKLPIEGAGA PGDPMDQEDL GPCSEEEEFQ QDVMARACLQ 550
    KLKGTTELLP KRPQHLPGHP GWYRKLCPRL DDPAWTPGPS LLSLQMRVTP 600
    KLMALTWDGF PLHYSERHGW GYLVPGRRDN LAKLPTGTTL ESAGVVCPYR 650
    AIESLYRKHC LEQGKQQLMP QEAGLAEEFL LTDNSAIWQT VEELDYLEVE 700
    AEAKMENLRA AVPGQPLALT ARGGPKDTQP SYHHGNGPYN DVDIPGCWFF 750
    KLPHKDGNSC NVGSPFAKDF LPKMEDGTLQ AGPGGASGPR ALEINKMISF 800
    WRNAHKRISS QMVVWLPRSA LPRAVIRHPD YDEEGLYGAI LPQVVTAGTI 850
    TRRAVEPTWL TASNARPDRV GSELKAMVQA PPGYTLVGAD VDSQELWIAA 900
    VLGDAHFAGM HGCTAFGWMT LQGRKSRGTD LHSKTATTVG ISREHAKIFN 950
    YGRIYGAGQP FAERLLMQFN HRLTQQEAAE KAQQMYAATK GLRWYRLSDE 1000
    GEWLVRELNL PVDRTEGGWI SLQDLRKVQR ETARKSQWKK WEVVAERAWK 1050
    GGTESEMFNK LESIATSDIP RTPVLGCCIS RALEPSAVQE EFMTSRVNWV 1100
    VQSSAVDYLH LMLVAMKWLF EEFAIDGRFC ISIHDEVRYL VREEDRYRAA 1150
    LALQITNLLT RCMFAYKLGL NDLPQSVAFF SAVDIDRCLR KEVTMDCKTP 1200
    SNPTGMERRY GIPQGEALDI YQIIELTKGS LEKRSQPGP 1239
    Length:1,239
    Mass (Da):139,562
    Last modified:October 1, 1996 - v1
    Checksum:i2D9ECCD75AD6E01E
    GO

    Polymorphismi

    The poly-Gln region seems to be polymorphic.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti3 – 31R → P in PEOB. 2 Publications
    VAR_012153
    Natural varianti18 – 181P → S.
    Corresponds to variant rs3087373 [ dbSNP | Ensembl ].
    VAR_014904
    Natural varianti55 – 551Q → QQ.1 Publication
    VAR_019265
    Natural varianti55 – 551Q → QQQ.1 Publication
    VAR_019266
    Natural varianti193 – 1931R → Q.1 Publication
    Corresponds to variant rs3176162 [ dbSNP | Ensembl ].
    VAR_019267
    Natural varianti227 – 2271R → W in PEOB and MTDPS4B. 3 Publications
    VAR_023663
    Natural varianti232 – 2321R → G in MTDPS4A. 1 Publication
    VAR_058870
    Natural varianti232 – 2321R → H in LS. 1 Publication
    VAR_058871
    Natural varianti244 – 2441L → P in MTDPS4A. 1 Publication
    VAR_058872
    Natural varianti251 – 2511T → I in PEOB, MTDPS4A and MTDPS4B. 5 Publications
    Corresponds to variant rs113994094 [ dbSNP | Ensembl ].
    VAR_023664
    Natural varianti268 – 2681G → A in PEOB; sporadic case. 1 Publication
    Corresponds to variant rs61752784 [ dbSNP | Ensembl ].
    VAR_058873
    Natural varianti304 – 3041L → R in PEOB; also found in SANDO. 3 Publications
    VAR_012154
    Natural varianti304 – 3041L → SANDO in PEOB.
    VAR_058874
    Natural varianti308 – 3081Q → H in PEOB; sporadic case. 1 Publication
    VAR_058875
    Natural varianti309 – 3091R → L in PEOB. 2 Publications
    VAR_023665
    Natural varianti312 – 3121W → R in PEOB; sporadic case. 2 Publications
    VAR_023666
    Natural varianti324 – 3241P → S.
    Corresponds to variant rs2307437 [ dbSNP | Ensembl ].
    VAR_014905
    Natural varianti380 – 3801G → D in PEOB. 1 Publication
    VAR_058876
    Natural varianti431 – 4311G → V in PEOB; sporadic case. 1 Publication
    VAR_023667
    Natural varianti463 – 4631L → F.1 Publication
    VAR_058877
    Natural varianti467 – 4671A → T in PEOB, SANDO and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 12 Publications
    Corresponds to variant rs113994095 [ dbSNP | Ensembl ].
    VAR_012155
    Natural varianti468 – 4681N → D in PEOB. 1 Publication
    Corresponds to variant rs145843073 [ dbSNP | Ensembl ].
    VAR_023668
    Natural varianti497 – 4971Q → H in SANDO; atypical form with spinocerebellar ataxia and epilepsy. 1 Publication
    VAR_023669
    Natural varianti511 – 5111S → N in PEOA1. 1 Publication
    VAR_058878
    Natural varianti517 – 5171G → V in SANDO. 1 Publication
    Corresponds to variant rs61752783 [ dbSNP | Ensembl ].
    VAR_058879
    Natural varianti546 – 5461R → C.1 Publication
    Corresponds to variant rs2307447 [ dbSNP | Ensembl ].
    VAR_014906
    Natural varianti562 – 5621R → Q in PEOB; sporadic case. 1 Publication
    VAR_058880
    Natural varianti574 – 5741R → W in PEOB; sporadic case. 1 Publication
    VAR_058881
    Natural varianti579 – 5791R → W in PEOB; autosomal recessive. 1 Publication
    VAR_023670
    Natural varianti587 – 5871P → L in PEOB, MTDPS4A and MTDPS4B. 6 Publications
    Corresponds to variant rs113994096 [ dbSNP | Ensembl ].
    VAR_023671
    Natural varianti603 – 6031M → L in PEOB. 1 Publication
    VAR_058882
    Natural varianti627 – 6271R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 Publication
    VAR_058883
    Natural varianti627 – 6271R → W in SANDO; sporadic case. 1 Publication
    VAR_023672
    Natural varianti648 – 6481P → R in PEOB; sporadic case; also in SANDO. 2 Publications
    VAR_058884
    Natural varianti662 – 6621E → K.1 Publication
    Corresponds to variant rs2307450 [ dbSNP | Ensembl ].
    VAR_014907
    Natural varianti737 – 7371G → R in PEOB; with absence of progressive external ophthalmoplegia. 1 Publication
    Corresponds to variant rs121918054 [ dbSNP | Ensembl ].
    VAR_058885
    Natural varianti748 – 7481W → S in SANDO and MTDPS4A; some patients manifest an atypical SANDO form with spinocerebellar ataxia and epilepsy. 6 Publications
    VAR_023673
    Natural varianti767 – 7671A → D in MTDPS4A. 1 Publication
    VAR_058886
    Natural varianti807 – 8071R → C in SANDO. 1 Publication
    VAR_058887
    Natural varianti807 – 8071R → P in PEOB; sporadic case. 1 Publication
    VAR_058888
    Natural varianti831 – 8311Y → C in PEOA1 and MTDPS4A. 2 Publications
    Corresponds to variant rs4154971 [ dbSNP | Ensembl ].
    VAR_023674
    Natural varianti848 – 8481G → S in PEOB, MTDPS4A, MTDPS4B and LS. 6 Publications
    VAR_023675
    Natural varianti853 – 8531R → W in PEOB; with absence of progressive external ophthalmoplegia. 2 Publications
    VAR_058889
    Natural varianti864 – 8641N → S in MTDPS4B. 1 Publication
    VAR_023676
    Natural varianti879 – 8791Q → H in MTDPS4A. 1 Publication
    VAR_058890
    Natural varianti885 – 8851T → S in MTDPS4A. 1 Publication
    VAR_058891
    Natural varianti889 – 8891A → T in PEOB. 1 Publication
    VAR_023677
    Natural varianti914 – 9141T → P in MTDPS4A. 3 Publications
    VAR_058892
    Natural varianti923 – 9231G → D in PEOA1. 1 Publication
    VAR_023678
    Natural varianti932 – 9321H → Y in SANDO and PEOB; sporadic case. 2 Publications
    VAR_023679
    Natural varianti943 – 9431R → H in PEOA1. 1 Publication
    VAR_023680
    Natural varianti953 – 9531R → C in PEOA1. 1 Publication
    Corresponds to variant rs11546842 [ dbSNP | Ensembl ].
    VAR_023681
    Natural varianti955 – 9551Y → 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. 4 Publications
    VAR_012156
    Natural varianti957 – 9571A → P in MTDPS4A. 1 Publication
    VAR_058893
    Natural varianti957 – 9571A → S in PEOA1. 1 Publication
    VAR_023682
    Natural varianti1047 – 10471R → Q in PEOB; sporadic case. 1 Publication
    VAR_023683
    Natural varianti1051 – 10511G → R in SANDO. 1 Publication
    VAR_023684
    Natural varianti1076 – 10761G → V in PEOB. 1 Publication
    VAR_023685
    Natural varianti1096 – 10961R → C in PEOB; sporadic case. 1 Publication
    VAR_023686
    Natural varianti1096 – 10961R → H in MTDPS4A. 1 Publication
    VAR_058894
    Natural varianti1104 – 11041S → C in PEOB; sporadic case. 1 Publication
    VAR_023687
    Natural varianti1105 – 11051A → T in PEOB. 1 Publication
    VAR_023688
    Natural varianti1106 – 11061V → I in PEOB. 1 Publication
    VAR_023689
    Natural varianti1110 – 11101H → Y in MTDPS4A. 1 Publication
    VAR_058895
    Natural varianti1134 – 11341H → R in MTDPS4A. 1 Publication
    VAR_058896
    Natural varianti1136 – 11361E → K in MTDPS4A. 1 Publication
    VAR_065092
    Natural varianti1142 – 11421R → W.1 Publication
    Corresponds to variant rs2307442 [ dbSNP | Ensembl ].
    VAR_014908
    Natural varianti