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Q9UHN1

- DPOG2_HUMAN

UniProt

Q9UHN1 - DPOG2_HUMAN

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
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    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
    3. protein binding Source: IntAct

    GO - Biological processi

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

    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

    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

    ArrayExpressiQ9UHN1.
    BgeeiQ9UHN1.
    CleanExiHS_POLG2.
    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. 3 interactions.
    IntActiQ9UHN1. 1 interaction.
    STRINGi9606.ENSP00000317618.

    Structurei

    Secondary structure

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

    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.
    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

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    MRSRVAVRAC HKVCRCLLSG FGGRVDAGQP ELLTERSSPK GGHVKSHAEL    50
    EGNGEHPEAP GSGEGSEALL EICQRRHFLS GSKQQLSRDS LLSGCHPGFG 100
    PLGVELRKNL AAEWWTSVVV FREQVFPVDA LHHKPGPLLP GDSAFRLVSA 150
    ETLREILQDK ELSKEQLVAF LENVLKTSGK LRENLLHGAL EHYVNCLDLV 200
    NKRLPYGLAQ IGVCFHPVFD TKQIRNGVKS IGEKTEASLV WFTPPRTSNQ 250
    WLDFWLRHRL QWWRKFAMSP SNFSSSDCQD EEGRKGNKLY YNFPWGKELI 300
    ETLWNLGDHE LLHMYPGNVS KLHGRDGRKN VVPCVLSVNG DLDRGMLAYL 350
    YDSFQLTENS FTRKKNLHRK VLKLHPCLAP IKVALDVGRG PTLELRQVCQ 400
    GLFNELLENG ISVWPGYLET MQSSLEQLYS KYDEMSILFT VLVTETTLEN 450
    GLIHLRSRDT TMKEMMHISK LKDFLIKYIS SAKNV 485
    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. 3 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.
    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

    ArrayExpressi Q9UHN1.
    Bgeei Q9UHN1.
    CleanExi HS_POLG2.
    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

    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 1, 2014
    This is version 126 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