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Protein

DNA polymerase nu

Gene

POLN

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

Functioni

DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template (PubMed:16787914, PubMed:17118716). Is the least accurate of the DNA polymerase A family (i.e. POLG, POLN and POLQ) (PubMed:17118716). Can perform accurate translesion DNA synthesis (TLS) past a 5S-thymine glycol. Can perform efficient strand displacement past a nick or a gap and gives rise to an amount of product similar to that on non-damaged template. Has no exonuclease activity (PubMed:16787914). Error-prone DNA polymerase that preferentially misincorporates dT regardless of template sequence (PubMed:25775266). May play a role in TLS during interstrand cross-link (ICL) repair (PubMed:19908865). May be involved in TLS when genomic replication is blocked by extremely large major groove DNA lesions. May function in the bypass of some DNA-protein and DNA-DNA cross-links. May have a role in cellular tolerance to DNA cross-linking agents (PubMed:20102227). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with HELQ helicase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904).6 Publications

Catalytic activityi

Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).2 Publications

Activity regulationi

Inhibited by ddTTP.1 Publication

Kineticsi

  1. KM=7.0 µM for dATP:T1 Publication
  2. KM=8.2 µM for dCTP:G1 Publication
  3. KM=7.7 µM for dGTP:C1 Publication
  4. KM=7.3 µM for dTTP:A1 Publication

    pH dependencei

    Optimum pH is 8.8.1 Publication

    GO - Molecular functioni

    • cyclin binding Source: UniProtKB
    • DNA binding Source: UniProtKB-KW
    • DNA-directed DNA polymerase activity Source: UniProtKB

    GO - Biological processi

    • DNA-dependent DNA replication Source: GO_Central
    • double-strand break repair via homologous recombination Source: UniProtKB
    • interstrand cross-link repair Source: UniProtKB
    • translesion synthesis Source: UniProtKB

    Keywordsi

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

    Enzyme and pathway databases

    ReactomeiR-HSA-6783310 Fanconi Anemia Pathway

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DNA polymerase nu (EC:2.7.7.72 Publications)
    Gene namesi
    Name:POLN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 4

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000130997.16
    HGNCiHGNC:18870 POLN
    MIMi610887 gene
    neXtProtiNX_Q7Z5Q5

    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

    Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi623D → A: Abolishes catalytic activity. 2 Publications1
    Mutagenesisi675E → R: Reduces polymerase activity. No effect on accuracy. 1 Publication1
    Mutagenesisi679K → A: No effect on polymerase activity. Increases accuracy by ten-fold. 1 Publication1

    Organism-specific databases

    DisGeNETi353497
    OpenTargetsiENSG00000130997
    PharmGKBiPA134979866

    Chemistry databases

    ChEMBLiCHEMBL2010628

    Polymorphism and mutation databases

    BioMutaiPOLN
    DMDMi90101282

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00002279381 – 900DNA polymerase nuAdd BLAST900

    Proteomic databases

    PaxDbiQ7Z5Q5
    PeptideAtlasiQ7Z5Q5
    PRIDEiQ7Z5Q5
    ProteomicsDBi69348

    PTM databases

    iPTMnetiQ7Z5Q5
    PhosphoSitePlusiQ7Z5Q5

    Expressioni

    Tissue specificityi

    Highly expressed in testis and heart. Weakly expressed in skeletal muscle.1 Publication

    Gene expression databases

    BgeeiENSG00000130997 Expressed in 134 organ(s), highest expression level in amniotic fluid
    CleanExiHS_POLN
    ExpressionAtlasiQ7Z5Q5 baseline and differential
    GenevisibleiQ7Z5Q5 HS

    Organism-specific databases

    HPAiHPA035939
    HPA035940

    Interactioni

    Subunit structurei

    Interacts with FANCD2, FANCI, PCNA, RAD51 and HELQ.1 Publication

    GO - Molecular functioni

    Protein-protein interaction databases

    BioGridi131695, 30 interactors
    STRINGi9606.ENSP00000372316

    Chemistry databases

    BindingDBiQ7Z5Q5

    Structurei

    Secondary structure

    1900
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    ProteinModelPortaliQ7Z5Q5
    SMRiQ7Z5Q5
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the DNA polymerase type-A family.Curated

    Phylogenomic databases

    eggNOGiENOG410IPH2 Eukaryota
    COG0749 LUCA
    GeneTreeiENSGT00640000091272
    HOGENOMiHOG000230904
    HOVERGENiHBG079981
    InParanoidiQ7Z5Q5
    KOiK16618
    OMAiRSWGHLV
    OrthoDBiEOG091G07H6
    PhylomeDBiQ7Z5Q5
    TreeFamiTF337202

    Family and domain databases

    Gene3Di3.30.420.10, 1 hit
    InterProiView protein in InterPro
    IPR001098 DNA-dir_DNA_pol_A_palm_dom
    IPR002298 DNA_polymerase_A
    IPR036397 RNaseH_sf
    PANTHERiPTHR10133 PTHR10133, 1 hit
    PfamiView protein in Pfam
    PF00476 DNA_pol_A, 1 hit
    PRINTSiPR00868 DNAPOLI
    SMARTiView protein in SMART
    SM00482 POLAc, 1 hit

    Sequences (2+)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q7Z5Q5-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MENYEALVGF DLCNTPLSSV AQKIMSAMHS GDLVDSKTWG KSTETMEVIN
    60 70 80 90 100
    KSSVKYSVQL EDRKTQSPEK KDLKSLRSQT SRGSAKLSPQ SFSVRLTDQL
    110 120 130 140 150
    SADQKQKSIS SLTLSSCLIP QYNQEASVLQ KKGHKRKHFL MENINNENKG
    160 170 180 190 200
    SINLKRKHIT YNNLSEKTSK QMALEEDTDD AEGYLNSGNS GALKKHFCDI
    210 220 230 240 250
    RHLDDWAKSQ LIEMLKQAAA LVITVMYTDG STQLGADQTP VSSVRGIVVL
    260 270 280 290 300
    VKRQAEGGHG CPDAPACGPV LEGFVSDDPC IYIQIEHSAI WDQEQEAHQQ
    310 320 330 340 350
    FARNVLFQTM KCKCPVICFN AKDFVRIVLQ FFGNDGSWKH VADFIGLDPR
    360 370 380 390 400
    IAAWLIDPSD ATPSFEDLVE KYCEKSITVK VNSTYGNSSR NIVNQNVREN
    410 420 430 440 450
    LKTLYRLTMD LCSKLKDYGL WQLFRTLELP LIPILAVMES HAIQVNKEEM
    460 470 480 490 500
    EKTSALLGAR LKELEQEAHF VAGERFLITS NNQLREILFG KLKLHLLSQR
    510 520 530 540 550
    NSLPRTGLQK YPSTSEAVLN ALRDLHPLPK IILEYRQVHK IKSTFVDGLL
    560 570 580 590 600
    ACMKKGSISS TWNQTGTVTG RLSAKHPNIQ GISKHPIQIT TPKNFKGKED
    610 620 630 640 650
    KILTISPRAM FVSSKGHTFL AADFSQIELR ILTHLSGDPE LLKLFQESER
    660 670 680 690 700
    DDVFSTLTSQ WKDVPVEQVT HADREQTKKV VYAVVYGAGK ERLAACLGVP
    710 720 730 740 750
    IQEAAQFLES FLQKYKKIKD FARAAIAQCH QTGCVVSIMG RRRPLPRIHA
    760 770 780 790 800
    HDQQLRAQAE RQAVNFVVQG SAADLCKLAM IHVFTAVAAS HTLTARLVAQ
    810 820 830 840 850
    IHDELLFEVE DPQIPECAAL VRRTMESLEQ VQALELQLQV PLKVSLSAGR
    860 870 880 890 900
    SWGHLVPLQE AWGPPPGPCR TESPSNSLAA PGSPASTQPP PLHFSPSFCL
    Length:900
    Mass (Da):100,307
    Last modified:March 21, 2006 - v2
    Checksum:iD44758D71BCD3F02
    GO
    Isoform 2 (identifier: Q7Z5Q5-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         578-610: NIQGISKHPIQITTPKNFKGKEDKILTISPRAM → ICARQVASDFQKCVEVSDAMMNSSIFWWLLKLY
         611-899: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:611
    Mass (Da):68,690
    Checksum:iEB21C241912D8601
    GO

    Computationally mapped potential isoform sequencesi

    There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    H0YA88H0YA88_HUMAN
    DNA polymerase nu
    POLN
    524Annotation score:

    Sequence cautioni

    The sequence BAD18421 differs from that shown. Probable cloning artifact.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti8V → A in BAG64670 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_025647121Q → H2 PublicationsCorresponds to variant dbSNP:rs2353552Ensembl.1
    Natural variantiVAR_025648201R → G1 PublicationCorresponds to variant dbSNP:rs35884361Ensembl.1
    Natural variantiVAR_025649310M → L1 PublicationCorresponds to variant dbSNP:rs10018786Ensembl.1
    Natural variantiVAR_025650315P → S1 PublicationCorresponds to variant dbSNP:rs11725880Ensembl.1
    Natural variantiVAR_025651336G → S1 PublicationCorresponds to variant dbSNP:rs10011549Ensembl.1
    Natural variantiVAR_025652425R → C2 PublicationsCorresponds to variant dbSNP:rs9328764Ensembl.1
    Natural variantiVAR_025653502S → G1 PublicationCorresponds to variant dbSNP:rs34574483Ensembl.1
    Natural variantiVAR_025654711F → L1 PublicationCorresponds to variant dbSNP:rs34554757Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_054402578 – 610NIQGI…SPRAM → ICARQVASDFQKCVEVSDAM MNSSIFWWLLKLY in isoform 2. 1 PublicationAdd BLAST33
    Alternative sequenceiVSP_054403611 – 899Missing in isoform 2. 1 PublicationAdd BLAST289

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AY136549 mRNA Translation: AAN52116.1
    AK131239 mRNA Translation: BAD18421.1 Sequence problems.
    AK303673 mRNA Translation: BAG64670.1
    DQ060036 Genomic DNA Translation: AAY43130.1
    AL136360 Genomic DNA No translation available.
    AL158068 Genomic DNA No translation available.
    CH471131 Genomic DNA Translation: EAW82539.1
    CCDSiCCDS3360.1 [Q7Z5Q5-1]
    RefSeqiNP_861524.2, NM_181808.3 [Q7Z5Q5-1]
    UniGeneiHs.368454

    Genome annotation databases

    EnsembliENST00000382865; ENSP00000372316; ENSG00000130997 [Q7Z5Q5-1]
    ENST00000511885; ENSP00000435506; ENSG00000130997 [Q7Z5Q5-1]
    GeneIDi353497
    KEGGihsa:353497
    UCSCiuc003ger.3 human [Q7Z5Q5-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Similar proteinsi

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AY136549 mRNA Translation: AAN52116.1
    AK131239 mRNA Translation: BAD18421.1 Sequence problems.
    AK303673 mRNA Translation: BAG64670.1
    DQ060036 Genomic DNA Translation: AAY43130.1
    AL136360 Genomic DNA No translation available.
    AL158068 Genomic DNA No translation available.
    CH471131 Genomic DNA Translation: EAW82539.1
    CCDSiCCDS3360.1 [Q7Z5Q5-1]
    RefSeqiNP_861524.2, NM_181808.3 [Q7Z5Q5-1]
    UniGeneiHs.368454

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    4XVIX-ray3.10A194-859[»]
    4XVKX-ray2.95A194-859[»]
    4XVLX-ray3.30A194-859[»]
    4XVMX-ray3.20A194-859[»]
    ProteinModelPortaliQ7Z5Q5
    SMRiQ7Z5Q5
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi131695, 30 interactors
    STRINGi9606.ENSP00000372316

    Chemistry databases

    BindingDBiQ7Z5Q5
    ChEMBLiCHEMBL2010628

    PTM databases

    iPTMnetiQ7Z5Q5
    PhosphoSitePlusiQ7Z5Q5

    Polymorphism and mutation databases

    BioMutaiPOLN
    DMDMi90101282

    Proteomic databases

    PaxDbiQ7Z5Q5
    PeptideAtlasiQ7Z5Q5
    PRIDEiQ7Z5Q5
    ProteomicsDBi69348

    Protocols and materials databases

    DNASUi353497
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000382865; ENSP00000372316; ENSG00000130997 [Q7Z5Q5-1]
    ENST00000511885; ENSP00000435506; ENSG00000130997 [Q7Z5Q5-1]
    GeneIDi353497
    KEGGihsa:353497
    UCSCiuc003ger.3 human [Q7Z5Q5-1]

    Organism-specific databases

    CTDi353497
    DisGeNETi353497
    EuPathDBiHostDB:ENSG00000130997.16
    GeneCardsiPOLN
    H-InvDBiHIX0004033
    HGNCiHGNC:18870 POLN
    HPAiHPA035939
    HPA035940
    MIMi610887 gene
    neXtProtiNX_Q7Z5Q5
    OpenTargetsiENSG00000130997
    PharmGKBiPA134979866
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiENOG410IPH2 Eukaryota
    COG0749 LUCA
    GeneTreeiENSGT00640000091272
    HOGENOMiHOG000230904
    HOVERGENiHBG079981
    InParanoidiQ7Z5Q5
    KOiK16618
    OMAiRSWGHLV
    OrthoDBiEOG091G07H6
    PhylomeDBiQ7Z5Q5
    TreeFamiTF337202

    Enzyme and pathway databases

    ReactomeiR-HSA-6783310 Fanconi Anemia Pathway

    Miscellaneous databases

    ChiTaRSiPOLN human
    GeneWikiiDNA_polymerase_nu
    GenomeRNAii353497
    PROiPR:Q7Z5Q5
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000130997 Expressed in 134 organ(s), highest expression level in amniotic fluid
    CleanExiHS_POLN
    ExpressionAtlasiQ7Z5Q5 baseline and differential
    GenevisibleiQ7Z5Q5 HS

    Family and domain databases

    Gene3Di3.30.420.10, 1 hit
    InterProiView protein in InterPro
    IPR001098 DNA-dir_DNA_pol_A_palm_dom
    IPR002298 DNA_polymerase_A
    IPR036397 RNaseH_sf
    PANTHERiPTHR10133 PTHR10133, 1 hit
    PfamiView protein in Pfam
    PF00476 DNA_pol_A, 1 hit
    PRINTSiPR00868 DNAPOLI
    SMARTiView protein in SMART
    SM00482 POLAc, 1 hit
    ProtoNetiSearch...

    Entry informationi

    Entry nameiDPOLN_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z5Q5
    Secondary accession number(s): A2A336
    , B4E158, Q4TTW4, Q6ZNF4
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
    Last sequence update: March 21, 2006
    Last modified: November 7, 2018
    This is version 130 of the entry and version 2 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. SIMILARITY comments
      Index of protein domains and families
    2. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    UniProt is an ELIXIR core data resource
    Main funding by: National Institutes of Health

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