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Q7Z5Q5

- DPOLN_HUMAN

UniProt

Q7Z5Q5 - DPOLN_HUMAN

Protein

DNA polymerase nu

Gene

POLN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (21 Mar 2006)
      Previous versions | rss
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    Functioni

    Catalytic activityi

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

    GO - Molecular functioni

    1. cyclin binding Source: UniProt
    2. DNA binding Source: UniProtKB-KW
    3. DNA-directed DNA polymerase activity Source: UniProt
    4. protein binding Source: UniProt

    GO - Biological processi

    1. DNA-dependent DNA replication Source: GOC
    2. double-strand break repair via homologous recombination Source: UniProt
    3. interstrand cross-link repair Source: UniProt
    4. translesion synthesis Source: UniProt

    Keywords - Molecular functioni

    DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase

    Keywords - Biological processi

    DNA damage, DNA repair, DNA replication

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DNA polymerase nu (EC:2.7.7.7)
    Gene namesi
    Name:POLN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:18870. POLN.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. nucleus Source: UniProt

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi623 – 6231D → A: No detectable activity. 1 Publication

    Organism-specific databases

    PharmGKBiPA134979866.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 900900DNA polymerase nuPRO_0000227938Add
    BLAST

    Proteomic databases

    PaxDbiQ7Z5Q5.
    PRIDEiQ7Z5Q5.

    PTM databases

    PhosphoSiteiQ7Z5Q5.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiQ7Z5Q5.
    CleanExiHS_POLN.
    GenevestigatoriQ7Z5Q5.

    Interactioni

    Protein-protein interaction databases

    BioGridi131695. 10 interactions.
    STRINGi9606.ENSP00000372316.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z5Q5.
    SMRiQ7Z5Q5. Positions 346-852.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the DNA polymerase type-A family.Curated

    Phylogenomic databases

    eggNOGiCOG0749.
    HOGENOMiHOG000230904.
    HOVERGENiHBG079981.
    InParanoidiQ7Z5Q5.
    KOiK16618.
    OMAiFEVEDSQ.
    OrthoDBiEOG7QG43B.
    PhylomeDBiQ7Z5Q5.
    TreeFamiTF337202.

    Family and domain databases

    Gene3Di3.30.420.10. 1 hit.
    InterProiIPR001098. DNA-dir_DNA_pol_A_palm_dom.
    IPR002298. DNA_polymerase_A.
    IPR012337. RNaseH-like_dom.
    [Graphical view]
    PfamiPF00476. DNA_pol_A. 1 hit.
    [Graphical view]
    PRINTSiPR00868. DNAPOLI.
    SMARTiSM00482. POLAc. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    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

    MENYEALVGF DLCNTPLSSV AQKIMSAMHS GDLVDSKTWG KSTETMEVIN    50
    KSSVKYSVQL EDRKTQSPEK KDLKSLRSQT SRGSAKLSPQ SFSVRLTDQL 100
    SADQKQKSIS SLTLSSCLIP QYNQEASVLQ KKGHKRKHFL MENINNENKG 150
    SINLKRKHIT YNNLSEKTSK QMALEEDTDD AEGYLNSGNS GALKKHFCDI 200
    RHLDDWAKSQ LIEMLKQAAA LVITVMYTDG STQLGADQTP VSSVRGIVVL 250
    VKRQAEGGHG CPDAPACGPV LEGFVSDDPC IYIQIEHSAI WDQEQEAHQQ 300
    FARNVLFQTM KCKCPVICFN AKDFVRIVLQ FFGNDGSWKH VADFIGLDPR 350
    IAAWLIDPSD ATPSFEDLVE KYCEKSITVK VNSTYGNSSR NIVNQNVREN 400
    LKTLYRLTMD LCSKLKDYGL WQLFRTLELP LIPILAVMES HAIQVNKEEM 450
    EKTSALLGAR LKELEQEAHF VAGERFLITS NNQLREILFG KLKLHLLSQR 500
    NSLPRTGLQK YPSTSEAVLN ALRDLHPLPK IILEYRQVHK IKSTFVDGLL 550
    ACMKKGSISS TWNQTGTVTG RLSAKHPNIQ GISKHPIQIT TPKNFKGKED 600
    KILTISPRAM FVSSKGHTFL AADFSQIELR ILTHLSGDPE LLKLFQESER 650
    DDVFSTLTSQ WKDVPVEQVT HADREQTKKV VYAVVYGAGK ERLAACLGVP 700
    IQEAAQFLES FLQKYKKIKD FARAAIAQCH QTGCVVSIMG RRRPLPRIHA 750
    HDQQLRAQAE RQAVNFVVQG SAADLCKLAM IHVFTAVAAS HTLTARLVAQ 800
    IHDELLFEVE DPQIPECAAL VRRTMESLEQ VQALELQLQV PLKVSLSAGR 850
    SWGHLVPLQE AWGPPPGPCR TESPSNSLAA PGSPASTQPP PLHFSPSFCL 900
    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

    Sequence cautioni

    The sequence BAD18421.1 differs from that shown. Reason: Probable cloning artifact.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti8 – 81V → A in BAG64670. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti121 – 1211Q → H.2 Publications
    Corresponds to variant rs2353552 [ dbSNP | Ensembl ].
    VAR_025647
    Natural varianti201 – 2011R → G.1 Publication
    Corresponds to variant rs35884361 [ dbSNP | Ensembl ].
    VAR_025648
    Natural varianti310 – 3101M → L.1 Publication
    Corresponds to variant rs10018786 [ dbSNP | Ensembl ].
    VAR_025649
    Natural varianti315 – 3151P → S.1 Publication
    Corresponds to variant rs11725880 [ dbSNP | Ensembl ].
    VAR_025650
    Natural varianti336 – 3361G → S.1 Publication
    Corresponds to variant rs10011549 [ dbSNP | Ensembl ].
    VAR_025651
    Natural varianti425 – 4251R → C.2 Publications
    Corresponds to variant rs9328764 [ dbSNP | Ensembl ].
    VAR_025652
    Natural varianti502 – 5021S → G.1 Publication
    Corresponds to variant rs34574483 [ dbSNP | Ensembl ].
    VAR_025653
    Natural varianti711 – 7111F → L.1 Publication
    Corresponds to variant rs34554757 [ dbSNP | Ensembl ].
    VAR_025654

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei578 – 61033NIQGI…SPRAM → ICARQVASDFQKCVEVSDAM MNSSIFWWLLKLY in isoform 2. 1 PublicationVSP_054402Add
    BLAST
    Alternative sequencei611 – 899289Missing in isoform 2. 1 PublicationVSP_054403Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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, AL158068 Genomic DNA. Translation: CAM16854.1.
    AL158068, AL136360 Genomic DNA. Translation: CAM20461.1.
    CH471131 Genomic DNA. Translation: EAW82539.1.
    CCDSiCCDS3360.1. [Q7Z5Q5-1]
    RefSeqiNP_861524.2. NM_181808.2. [Q7Z5Q5-1]
    UniGeneiHs.368454.

    Genome annotation databases

    EnsembliENST00000382865; ENSP00000372316; ENSG00000130997. [Q7Z5Q5-1]
    ENST00000511885; ENSP00000435506; ENSG00000130997. [Q7Z5Q5-1]
    GeneIDi353497.
    KEGGihsa:353497.
    UCSCiuc003ger.2. human. [Q7Z5Q5-1]

    Polymorphism databases

    DMDMi90101282.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 , AL158068 Genomic DNA. Translation: CAM16854.1 .
    AL158068 , AL136360 Genomic DNA. Translation: CAM20461.1 .
    CH471131 Genomic DNA. Translation: EAW82539.1 .
    CCDSi CCDS3360.1. [Q7Z5Q5-1 ]
    RefSeqi NP_861524.2. NM_181808.2. [Q7Z5Q5-1 ]
    UniGenei Hs.368454.

    3D structure databases

    ProteinModelPortali Q7Z5Q5.
    SMRi Q7Z5Q5. Positions 346-852.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 131695. 10 interactions.
    STRINGi 9606.ENSP00000372316.

    Chemistry

    ChEMBLi CHEMBL2010628.

    PTM databases

    PhosphoSitei Q7Z5Q5.

    Polymorphism databases

    DMDMi 90101282.

    Proteomic databases

    PaxDbi Q7Z5Q5.
    PRIDEi Q7Z5Q5.

    Protocols and materials databases

    DNASUi 353497.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000382865 ; ENSP00000372316 ; ENSG00000130997 . [Q7Z5Q5-1 ]
    ENST00000511885 ; ENSP00000435506 ; ENSG00000130997 . [Q7Z5Q5-1 ]
    GeneIDi 353497.
    KEGGi hsa:353497.
    UCSCi uc003ger.2. human. [Q7Z5Q5-1 ]

    Organism-specific databases

    CTDi 353497.
    GeneCardsi GC04M002073.
    H-InvDB HIX0004033.
    HGNCi HGNC:18870. POLN.
    MIMi 610887. gene.
    neXtProti NX_Q7Z5Q5.
    PharmGKBi PA134979866.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0749.
    HOGENOMi HOG000230904.
    HOVERGENi HBG079981.
    InParanoidi Q7Z5Q5.
    KOi K16618.
    OMAi FEVEDSQ.
    OrthoDBi EOG7QG43B.
    PhylomeDBi Q7Z5Q5.
    TreeFami TF337202.

    Miscellaneous databases

    ChiTaRSi POLN. human.
    GeneWikii DNA_polymerase_nu.
    GenomeRNAii 353497.
    NextBioi 35476941.
    PROi Q7Z5Q5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q7Z5Q5.
    CleanExi HS_POLN.
    Genevestigatori Q7Z5Q5.

    Family and domain databases

    Gene3Di 3.30.420.10. 1 hit.
    InterProi IPR001098. DNA-dir_DNA_pol_A_palm_dom.
    IPR002298. DNA_polymerase_A.
    IPR012337. RNaseH-like_dom.
    [Graphical view ]
    Pfami PF00476. DNA_pol_A. 1 hit.
    [Graphical view ]
    PRINTSi PR00868. DNAPOLI.
    SMARTi SM00482. POLAc. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "POLN, a nuclear PolA family DNA polymerase homologous to the DNA cross-link sensitivity protein Mus308."
      Marini F., Kim N., Schuffert A., Wood R.D.
      J. Biol. Chem. 278:32014-32019(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT HIS-121, ALTERNATIVE SPLICING, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF ASP-623.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT CYS-425.
      Tissue: Brain and Kidney.
    3. NIEHS SNPs program
      Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-121; GLY-201; LEU-310; SER-315; SER-336; CYS-425; GLY-502 AND LEU-711.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiDPOLN_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z5Q5
    Secondary accession number(s): A2A336
    , B4E158, Q4TTW4, Q6ZNF4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 21, 2006
    Last sequence update: March 21, 2006
    Last modified: October 1, 2014
    This is version 95 of the entry and version 2 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3