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UniProtKB - Q9UHN1 (DPOG2_HUMAN)

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Protein

DNA polymerase subunit gamma-2, mitochondrial

Gene

POLG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • DNA binding Source: UniProtKB-KW
  • DNA-directed DNA polymerase activity Source: ProtInc
  • glycine-tRNA ligase activity Source: GO_Central
  • identical protein binding Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • DNA-dependent DNA replication Source: ProtInc
  • DNA repair Source: UniProtKB
  • DNA replication Source: UniProtKB
  • in utero embryonic development Source: Ensembl
  • mitochondrial DNA metabolic process Source: Ensembl
  • mitochondrial glycyl-tRNA aminoacylation Source: GO_Central
  • mitochondrion morphogenesis Source: Ensembl
  • mitochondrion organization Source: Reactome
  • respiratory electron transport chain Source: Ensembl
View the complete GO annotation on QuickGO ...

Keywordsi

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

Enzyme and pathway databases

BRENDAi2.7.7.7 2681
ReactomeiR-HSA-2151201 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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000256525.6
HGNCiHGNC:9180 POLG2
MIMi604983 gene
neXtProtiNX_Q9UHN1

Subcellular locationi

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

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
See also OMIM:610131
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029364451G → E in PEOA4; affects stimulation of the catalytic subunit. 1 PublicationCorresponds to variant dbSNP:rs104894632EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNETi11232
MalaCardsiPOLG2
MIMi610131 phenotype
OpenTargetsiENSG00000256525
Orphaneti254892 Autosomal dominant progressive external ophthalmoplegia
PharmGKBiPA33501

Chemistry databases

ChEMBLiCHEMBL3430903

Polymorphism and mutation databases

BioMutaiPOLG2
DMDMi17367139

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000007314? – 485DNA polymerase subunit gamma-2, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei38PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UHN1
MaxQBiQ9UHN1
PaxDbiQ9UHN1
PeptideAtlasiQ9UHN1
PRIDEiQ9UHN1
ProteomicsDBi84382

PTM databases

iPTMnetiQ9UHN1
PhosphoSitePlusiQ9UHN1

Expressioni

Gene expression databases

BgeeiENSG00000256525
CleanExiHS_POLG2
ExpressionAtlasiQ9UHN1 baseline and differential
GenevisibleiQ9UHN1 HS

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
POLGP5409810EBI-852642,EBI-852624

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi116398, 14 interactors
ComplexPortaliCPX-2093 DNA polymerase gamma complex
IntActiQ9UHN1, 8 interactors
MINTiQ9UHN1
STRINGi9606.ENSP00000442563

Structurei

Secondary structure

1485
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi60 – 66Combined sources7
Helixi69 – 75Combined sources7
Beta strandi78 – 80Combined sources3
Turni83 – 86Combined sources4
Helixi88 – 92Combined sources5
Helixi101 – 118Combined sources18
Turni119 – 122Combined sources4
Beta strandi125 – 127Combined sources3
Beta strandi132 – 134Combined sources3
Turni135 – 137Combined sources3
Beta strandi138 – 141Combined sources4
Beta strandi146 – 149Combined sources4
Helixi150 – 153Combined sources4
Helixi154 – 156Combined sources3
Beta strandi157 – 159Combined sources3
Turni161 – 165Combined sources5
Helixi166 – 168Combined sources3
Helixi171 – 177Combined sources7
Beta strandi179 – 181Combined sources3
Helixi186 – 192Combined sources7
Turni193 – 197Combined sources5
Helixi198 – 200Combined sources3
Beta strandi203 – 215Combined sources13
Beta strandi224 – 226Combined sources3
Beta strandi233 – 243Combined sources11
Helixi245 – 247Combined sources3
Helixi248 – 266Combined sources19
Helixi270 – 272Combined sources3
Beta strandi273 – 278Combined sources6
Beta strandi281 – 284Combined sources4
Beta strandi286 – 292Combined sources7
Beta strandi297 – 305Combined sources9
Helixi309 – 314Combined sources6
Beta strandi319 – 322Combined sources4
Beta strandi325 – 328Combined sources4
Beta strandi334 – 341Combined sources8
Helixi342 – 351Combined sources10
Turni359 – 361Combined sources3
Beta strandi362 – 364Combined sources3
Turni376 – 378Combined sources3
Beta strandi379 – 381Combined sources3
Beta strandi383 – 389Combined sources7
Helixi395 – 408Combined sources14
Beta strandi413 – 415Combined sources3
Helixi416 – 418Combined sources3
Beta strandi419 – 421Combined sources3
Helixi426 – 432Combined sources7
Helixi433 – 435Combined sources3
Beta strandi438 – 443Combined sources6
Helixi445 – 448Combined sources4
Beta strandi450 – 457Combined sources8
Turni458 – 460Combined sources3
Beta strandi464 – 467Combined sources4
Helixi470 – 484Combined sources15

3D structure databases

ProteinModelPortaliQ9UHN1
SMRiQ9UHN1
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UHN1

Family & Domainsi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2298 Eukaryota
COG0423 LUCA
GeneTreeiENSGT00390000000244
HOGENOMiHOG000049133
HOVERGENiHBG051401
InParanoidiQ9UHN1
KOiK02333
OMAiKEMMHIS
OrthoDBiEOG091G0B28
PhylomeDBiQ9UHN1
TreeFamiTF103005

Family and domain databases

Gene3Di3.40.50.800, 1 hit
InterProiView protein in InterPro
IPR004154 Anticodon-bd
IPR036621 Anticodon-bd_dom_sf
IPR027031 Gly-tRNA_synthase/POLG2
IPR027030 POLG2
PANTHERiPTHR10745 PTHR10745, 1 hit
PTHR10745:SF8 PTHR10745:SF8, 1 hit
PfamiView protein in Pfam
PF03129 HGTP_anticodon, 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)DescriptionActionsGraphical viewLength
Sequence conflicti114 – 124WWTSVVVFREQ → MVDLGGGVHGA in AAC51321 (PubMed:9153213).CuratedAdd BLAST11
Sequence conflicti122R → T in AAD56542 (PubMed:10677218).Curated1
Sequence conflicti136G → S in AAD56542 (PubMed:10677218).Curated1
Sequence conflicti136G → S in AAC51321 (PubMed:9153213).Curated1
Sequence conflicti287 – 292NKLYYN → TNFTTI in AAC51321 (PubMed:9153213).Curated6

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032028169A → T2 PublicationsCorresponds to variant dbSNP:rs1427463EnsemblClinVar.1
Natural variantiVAR_078773182R → W Probable disease-associated mutation found in a patient with fulminant hepatic failure and mitochondrial DNA depletion. 1 PublicationCorresponds to variant dbSNP:rs886037843EnsemblClinVar.1
Natural variantiVAR_032029416G → A Polymorphism; no functional deficit. 2 PublicationsCorresponds to variant dbSNP:rs17850455EnsemblClinVar.1
Natural variantiVAR_029364451G → E in PEOA4; affects stimulation of the catalytic subunit. 1 PublicationCorresponds to variant dbSNP:rs104894632EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4 human

Similar proteinsi

Entry informationi

Entry nameiDPOG2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHN1
Secondary accession number(s): O00419
, Q0IJ81, Q96GW2, Q9UK35, Q9UK94
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: May 1, 2000
Last modified: July 18, 2018
This is version 163 of the entry and version 1 of the sequence. See 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

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