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P54098

- DPOG1_HUMAN

UniProt

P54098 - DPOG1_HUMAN

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Protein
DNA polymerase subunit gamma-1
Gene
POLG, MDP1, POLG1, POLGA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

Magnesium.

GO - Molecular functioni

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

GO - Biological processi

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

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. 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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
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. 5 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.
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. 7 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. 7 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.9 Publications
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. 7 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
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. 7 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. 7 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. 7 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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. 7 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. 7 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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. 7 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-1
PRO_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

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.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

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

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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.2 Publications
VAR_019265
Natural varianti55 – 551Q → QQQ.2 Publications
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. 7 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. 7 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. 7 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. 5 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 varianti1143 – 11431E → G.7 Publications
Corresponds to variant rs2307441 [ dbSNP | Ensembl ].
VAR_014909
Natural varianti1146 – 11461R → C in PEOB. 2 Publications
Corresponds to variant rs2307440 [ dbSNP | Ensembl ].
VAR_014910
Natural varianti1176 – 11761S → L in PEOA1. 2 Publications
VAR_023690
Natural varianti1184 – 11841D → N in PEOB. 1 Publication
VAR_058897
Natural varianti1186 – 11861D → H in PEOA1. 1 Publication
VAR_065119
Natural varianti1191 – 11911K → N in MTDPS4A. 1 Publication
VAR_058898
Natural varianti1236 – 12361Q → H.6 Publications
Corresponds to variant rs3087374 [ dbSNP | Ensembl ].
VAR_014911

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.