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Q9UHN1

- DPOG2_HUMAN

UniProt

Q9UHN1 - DPOG2_HUMAN

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Protein

DNA polymerase subunit gamma-2, mitochondrial

Gene

POLG2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Mitochondrial polymerase processivity subunit. Stimulates the polymerase and exonuclease activities, and increases the processivity of the enzyme. Binds to ss-DNA.

Catalytic activityi

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

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. DNA-directed DNA polymerase activity Source: ProtInc

GO - Biological processi

  1. DNA-dependent DNA replication Source: ProtInc
  2. DNA repair Source: UniProtKB
  3. DNA replication Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase

Keywords - Biological processi

DNA replication

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_200608. Transcriptional activation of mitochondrial biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA polymerase subunit gamma-2, mitochondrial (EC:2.7.7.7)
Alternative name(s):
DNA polymerase gamma accessory 55 kDa subunit
Short name:
p55
Mitochondrial DNA polymerase accessory subunit
MtPolB
PolG-beta
Gene namesi
Name:POLG2
Synonyms:MTPOLB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:9180. POLG2.

Subcellular locationi

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. mitochondrial chromosome Source: ProtInc
  3. mitochondrial nucleoid Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti451 – 4511G → E in PEOA4; affects stimulation of the catalytic subunit. 1 Publication
VAR_029364

Keywords - Diseasei

Disease mutation, Progressive external ophthalmoplegia

Organism-specific databases

MIMi610131. phenotype.
Orphaneti254892. Autosomal dominant progressive external ophthalmoplegia.
PharmGKBiPA33501.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 485DNA polymerase subunit gamma-2, mitochondrialPRO_0000007314
Transit peptidei1 – ?MitochondrionSequence Analysis

Proteomic databases

MaxQBiQ9UHN1.
PaxDbiQ9UHN1.
PRIDEiQ9UHN1.

PTM databases

PhosphoSiteiQ9UHN1.

Expressioni

Gene expression databases

BgeeiQ9UHN1.
CleanExiHS_POLG2.
ExpressionAtlasiQ9UHN1. baseline and differential.
GenevestigatoriQ9UHN1.

Organism-specific databases

HPAiCAB017030.
HPA023202.

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
POLGP540989EBI-852642,EBI-852624

Protein-protein interaction databases

BioGridi116398. 4 interactions.
IntActiQ9UHN1. 1 interaction.
STRINGi9606.ENSP00000317618.

Structurei

Secondary structure

1
485
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi69 – 757Combined sources
Beta strandi78 – 803Combined sources
Turni83 – 864Combined sources
Helixi88 – 925Combined sources
Helixi101 – 11818Combined sources
Turni119 – 1224Combined sources
Beta strandi125 – 1273Combined sources
Beta strandi132 – 1343Combined sources
Turni135 – 1373Combined sources
Beta strandi146 – 1494Combined sources
Helixi150 – 1534Combined sources
Helixi154 – 1563Combined sources
Beta strandi157 – 1593Combined sources
Turni161 – 1655Combined sources
Helixi166 – 1683Combined sources
Helixi171 – 1777Combined sources
Beta strandi179 – 1813Combined sources
Helixi186 – 1927Combined sources
Turni193 – 1975Combined sources
Helixi198 – 2003Combined sources
Beta strandi203 – 21513Combined sources
Beta strandi233 – 24311Combined sources
Helixi245 – 2473Combined sources
Helixi248 – 26619Combined sources
Helixi270 – 2723Combined sources
Beta strandi273 – 2786Combined sources
Beta strandi281 – 2844Combined sources
Beta strandi286 – 2927Combined sources
Beta strandi297 – 3059Combined sources
Helixi309 – 3146Combined sources
Beta strandi319 – 3224Combined sources
Beta strandi325 – 3284Combined sources
Beta strandi334 – 3418Combined sources
Helixi342 – 35110Combined sources
Turni376 – 3783Combined sources
Beta strandi379 – 3813Combined sources
Beta strandi383 – 3897Combined sources
Helixi395 – 40814Combined sources
Beta strandi413 – 4153Combined sources
Helixi416 – 4183Combined sources
Beta strandi419 – 4213Combined sources
Helixi426 – 4327Combined sources
Helixi433 – 4353Combined sources
Beta strandi438 – 4436Combined sources
Helixi445 – 4484Combined sources
Beta strandi450 – 4578Combined sources
Turni458 – 4603Combined sources
Beta strandi464 – 4674Combined sources
Helixi470 – 48415Combined sources

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2G4CX-ray3.15A/B/C/D26-485[»]
3IKLX-ray3.10A/B1-146[»]
A/B181-485[»]
3IKMX-ray3.24B/C/E/F59-485[»]
ProteinModelPortaliQ9UHN1.
SMRiQ9UHN1. Positions 67-485.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UHN1.

Family & Domainsi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0423.
GeneTreeiENSGT00390000000244.
HOGENOMiHOG000049133.
HOVERGENiHBG051401.
InParanoidiQ9UHN1.
KOiK02333.
OMAiDHELLHM.
PhylomeDBiQ9UHN1.
TreeFamiTF103005.

Family and domain databases

Gene3Di3.40.50.800. 1 hit.
InterProiIPR004154. Anticodon-bd.
IPR027031. Gly-tRNA_synthase/POLG2.
[Graphical view]
PANTHERiPTHR10745. PTHR10745. 1 hit.
PfamiPF03129. HGTP_anticodon. 1 hit.
[Graphical view]
SUPFAMiSSF52954. SSF52954. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9UHN1-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MRSRVAVRAC HKVCRCLLSG FGGRVDAGQP ELLTERSSPK GGHVKSHAEL
60 70 80 90 100
EGNGEHPEAP GSGEGSEALL EICQRRHFLS GSKQQLSRDS LLSGCHPGFG
110 120 130 140 150
PLGVELRKNL AAEWWTSVVV FREQVFPVDA LHHKPGPLLP GDSAFRLVSA
160 170 180 190 200
ETLREILQDK ELSKEQLVAF LENVLKTSGK LRENLLHGAL EHYVNCLDLV
210 220 230 240 250
NKRLPYGLAQ IGVCFHPVFD TKQIRNGVKS IGEKTEASLV WFTPPRTSNQ
260 270 280 290 300
WLDFWLRHRL QWWRKFAMSP SNFSSSDCQD EEGRKGNKLY YNFPWGKELI
310 320 330 340 350
ETLWNLGDHE LLHMYPGNVS KLHGRDGRKN VVPCVLSVNG DLDRGMLAYL
360 370 380 390 400
YDSFQLTENS FTRKKNLHRK VLKLHPCLAP IKVALDVGRG PTLELRQVCQ
410 420 430 440 450
GLFNELLENG ISVWPGYLET MQSSLEQLYS KYDEMSILFT VLVTETTLEN
460 470 480
GLIHLRSRDT TMKEMMHISK LKDFLIKYIS SAKNV
Length:485
Mass (Da):54,911
Last modified:May 1, 2000 - v1
Checksum:iB99734BFEA249192
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti114 – 12411WWTSVVVFREQ → MVDLGGGVHGA in AAC51321. (PubMed:9153213)CuratedAdd
BLAST
Sequence conflicti122 – 1221R → T in AAD56542. (PubMed:10677218)Curated
Sequence conflicti136 – 1361G → S in AAD56542. (PubMed:10677218)Curated
Sequence conflicti136 – 1361G → S in AAC51321. (PubMed:9153213)Curated
Sequence conflicti287 – 2926NKLYYN → TNFTTI in AAC51321. (PubMed:9153213)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti169 – 1691A → T.2 Publications
Corresponds to variant rs1427463 [ dbSNP | Ensembl ].
VAR_032028
Natural varianti416 – 4161G → A There is no functional deficit. 2 Publications
Corresponds to variant rs17850455 [ dbSNP | Ensembl ].
VAR_032029
Natural varianti451 – 4511G → E in PEOA4; affects stimulation of the catalytic subunit. 1 Publication
VAR_029364

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF142992 mRNA. Translation: AAD50382.1.
AF177201 mRNA. Translation: AAD56640.1.
AF184344 mRNA. Translation: AAD56542.1.
BC000913 mRNA. Translation: AAH00913.2.
BC009194 mRNA. Translation: AAH09194.1.
U94703 mRNA. Translation: AAC51321.1.
CCDSiCCDS32706.1.
RefSeqiNP_009146.2. NM_007215.3.
UniGeneiHs.437009.

Genome annotation databases

EnsembliENST00000539111; ENSP00000442563; ENSG00000256525.
GeneIDi11232.
KEGGihsa:11232.
UCSCiuc002jei.3. human.

Polymorphism databases

DMDMi17367139.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF142992 mRNA. Translation: AAD50382.1 .
AF177201 mRNA. Translation: AAD56640.1 .
AF184344 mRNA. Translation: AAD56542.1 .
BC000913 mRNA. Translation: AAH00913.2 .
BC009194 mRNA. Translation: AAH09194.1 .
U94703 mRNA. Translation: AAC51321.1 .
CCDSi CCDS32706.1.
RefSeqi NP_009146.2. NM_007215.3.
UniGenei Hs.437009.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2G4C X-ray 3.15 A/B/C/D 26-485 [» ]
3IKL X-ray 3.10 A/B 1-146 [» ]
A/B 181-485 [» ]
3IKM X-ray 3.24 B/C/E/F 59-485 [» ]
ProteinModelPortali Q9UHN1.
SMRi Q9UHN1. Positions 67-485.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116398. 4 interactions.
IntActi Q9UHN1. 1 interaction.
STRINGi 9606.ENSP00000317618.

PTM databases

PhosphoSitei Q9UHN1.

Polymorphism databases

DMDMi 17367139.

Proteomic databases

MaxQBi Q9UHN1.
PaxDbi Q9UHN1.
PRIDEi Q9UHN1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000539111 ; ENSP00000442563 ; ENSG00000256525 .
GeneIDi 11232.
KEGGi hsa:11232.
UCSCi uc002jei.3. human.

Organism-specific databases

CTDi 11232.
GeneCardsi GC17M062473.
HGNCi HGNC:9180. POLG2.
HPAi CAB017030.
HPA023202.
MIMi 604983. gene.
610131. phenotype.
neXtProti NX_Q9UHN1.
Orphaneti 254892. Autosomal dominant progressive external ophthalmoplegia.
PharmGKBi PA33501.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0423.
GeneTreei ENSGT00390000000244.
HOGENOMi HOG000049133.
HOVERGENi HBG051401.
InParanoidi Q9UHN1.
KOi K02333.
OMAi DHELLHM.
PhylomeDBi Q9UHN1.
TreeFami TF103005.

Enzyme and pathway databases

Reactomei REACT_200608. Transcriptional activation of mitochondrial biogenesis.

Miscellaneous databases

EvolutionaryTracei Q9UHN1.
GeneWikii POLG2.
GenomeRNAii 11232.
NextBioi 42746.
PROi Q9UHN1.
SOURCEi Search...

Gene expression databases

Bgeei Q9UHN1.
CleanExi HS_POLG2.
ExpressionAtlasi Q9UHN1. baseline and differential.
Genevestigatori Q9UHN1.

Family and domain databases

Gene3Di 3.40.50.800. 1 hit.
InterProi IPR004154. Anticodon-bd.
IPR027031. Gly-tRNA_synthase/POLG2.
[Graphical view ]
PANTHERi PTHR10745. PTHR10745. 1 hit.
Pfami PF03129. HGTP_anticodon. 1 hit.
[Graphical view ]
SUPFAMi SSF52954. SSF52954. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance."
    Lim S.E., Longley M.J., Copeland W.C.
    J. Biol. Chem. 274:38197-38203(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Cerebellum.
  2. "Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase."
    Carrodeguas J.A., Bogenhagen D.F.
    Nucleic Acids Res. 28:1237-1244(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT THR-169.
  3. "Human mitochondrial DNA polymerase holoenzyme: reconstitution and characterization."
    Johnson A.A., Tsai Y.-C., Graves S.W., Johnson K.A.
    Biochemistry 39:1702-1708(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS THR-169 AND ALA-416.
    Tissue: Cervix and Ovary.
  5. "Accessory subunit of mitochondrial DNA polymerase from Drosophila embryos. Cloning, molecular analysis, and association in the native enzyme."
    Wang Y., Farr C.L., Kaguni L.S.
    J. Biol. Chem. 272:13640-13646(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 114-485.
  6. "Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia."
    Longley M.J., Clark S., Man C.Y.W., Hudson G., Durham S.E., Taylor R.W., Nightingale S., Turnbull D.M., Copeland W.C., Chinnery P.F.
    Am. J. Hum. Genet. 78:1026-1034(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PEOA4 GLU-451, CHARACTERIZATION OF VARIANT PEOA4 GLU-451.
  7. "Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1."
    Ferraris S., Clark S., Garelli E., Davidzon G., Moore S.A., Kardon R.H., Bienstock R.J., Longley M.J., Mancuso M., Gutierrez Rios P., Hirano M., Copeland W.C., DiMauro S.
    Arch. Neurol. 65:125-131(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALA-416, CHARACTERIZATION OF VARIANT ALA-416.

Entry informationi

Entry nameiDPOG2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHN1
Secondary accession number(s): O00419
, Q0IJ81, Q96GW2, Q9UK35, Q9UK94
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: May 1, 2000
Last modified: October 29, 2014
This is version 127 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

External Data

Dasty 3