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Q9UHN1 (DPOG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:POLG2
Synonyms:MTPOLB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length485 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Catalytic activity

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

Subunit structure

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

Subcellular location

Mitochondrion.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Binary interactions

With

Entry

#Exp.

IntAct

Notes

POLGP540989EBI-852642,EBI-852624

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – ?Mitochondrion Potential
Chain? – 485DNA polymerase subunit gamma-2, mitochondrialPRO_0000007314

Natural variations

Natural variant1691A → T. Ref.2 Ref.4
Corresponds to variant rs1427463 [ dbSNP | Ensembl ].
VAR_032028
Natural variant4161G → A There is no functional deficit. Ref.4 Ref.7
Corresponds to variant rs17850455 [ dbSNP | Ensembl ].
VAR_032029
Natural variant4511G → E in PEOA4; affects stimulation of the catalytic subunit. Ref.6
VAR_029364

Experimental info

Sequence conflict114 – 12411WWTSVVVFREQ → MVDLGGGVHGA in AAC51321. Ref.5
Sequence conflict1221R → T in AAD56542. Ref.3
Sequence conflict1361G → S in AAD56542. Ref.3
Sequence conflict1361G → S in AAC51321. Ref.5
Sequence conflict287 – 2926NKLYYN → TNFTTI in AAC51321. Ref.5

Secondary structure

................................................................................... 485
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9UHN1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: B99734BFEA249192

FASTA48554,911
        10         20         30         40         50         60 
MRSRVAVRAC HKVCRCLLSG FGGRVDAGQP ELLTERSSPK GGHVKSHAEL EGNGEHPEAP 

        70         80         90        100        110        120 
GSGEGSEALL EICQRRHFLS GSKQQLSRDS LLSGCHPGFG PLGVELRKNL AAEWWTSVVV 

       130        140        150        160        170        180 
FREQVFPVDA LHHKPGPLLP GDSAFRLVSA ETLREILQDK ELSKEQLVAF LENVLKTSGK 

       190        200        210        220        230        240 
LRENLLHGAL EHYVNCLDLV NKRLPYGLAQ IGVCFHPVFD TKQIRNGVKS IGEKTEASLV 

       250        260        270        280        290        300 
WFTPPRTSNQ WLDFWLRHRL QWWRKFAMSP SNFSSSDCQD EEGRKGNKLY YNFPWGKELI 

       310        320        330        340        350        360 
ETLWNLGDHE LLHMYPGNVS KLHGRDGRKN VVPCVLSVNG DLDRGMLAYL YDSFQLTENS 

       370        380        390        400        410        420 
FTRKKNLHRK VLKLHPCLAP IKVALDVGRG PTLELRQVCQ GLFNELLENG ISVWPGYLET 

       430        440        450        460        470        480 
MQSSLEQLYS KYDEMSILFT VLVTETTLEN GLIHLRSRDT TMKEMMHISK LKDFLIKYIS 


SAKNV 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32706.1.
RefSeqNP_009146.2. NM_007215.3.
UniGeneHs.437009.

3D structure databases

PDBe
RCSB-PDB
PDBj
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[»]
ProteinModelPortalQ9UHN1.
SMRQ9UHN1. Positions 67-485.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116398. 3 interactions.
IntActQ9UHN1. 1 interaction.
STRING9606.ENSP00000317618.

PTM databases

PhosphoSiteQ9UHN1.

Polymorphism databases

DMDM17367139.

Proteomic databases

MaxQBQ9UHN1.
PaxDbQ9UHN1.
PRIDEQ9UHN1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000539111; ENSP00000442563; ENSG00000256525.
ENST00000573512; ENSP00000460705; ENSG00000262917.
GeneID11232.
KEGGhsa:11232.
UCSCuc002jei.3. human.

Organism-specific databases

CTD11232.
GeneCardsGC17M062473.
HGNCHGNC:9180. POLG2.
HPACAB017030.
HPA023202.
MIM604983. gene.
610131. phenotype.
neXtProtNX_Q9UHN1.
Orphanet254892. Autosomal dominant progressive external ophthalmoplegia.
PharmGKBPA33501.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0423.
HOGENOMHOG000049133.
HOVERGENHBG051401.
InParanoidQ9UHN1.
KOK02333.
OMADHELLHM.
PhylomeDBQ9UHN1.
TreeFamTF103005.

Enzyme and pathway databases

ReactomeREACT_200751. Organelle biogenesis and maintenance.

Gene expression databases

ArrayExpressQ9UHN1.
BgeeQ9UHN1.
CleanExHS_POLG2.
GenevestigatorQ9UHN1.

Family and domain databases

Gene3D3.40.50.800. 1 hit.
InterProIPR004154. Anticodon-bd.
IPR027031. Gly-tRNA_synthase/POLG2.
[Graphical view]
PANTHERPTHR10745. PTHR10745. 1 hit.
PfamPF03129. HGTP_anticodon. 1 hit.
[Graphical view]
SUPFAMSSF52954. SSF52954. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceQ9UHN1.
GeneWikiPOLG2.
GenomeRNAi11232.
NextBio42746.
PROQ9UHN1.
SOURCESearch...

Entry information

Entry nameDPOG2_HUMAN
AccessionPrimary (citable) accession number: Q9UHN1
Secondary accession number(s): O00419 expand/collapse secondary AC list , Q0IJ81, Q96GW2, Q9UK35, Q9UK94
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM