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Q7Z5Q5

- DPOLN_HUMAN

UniProt

Q7Z5Q5 - DPOLN_HUMAN

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Protein

DNA polymerase nu

Gene

POLN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

GO - Biological processi

  1. double-strand break repair via homologous recombination Source: UniProt
  2. interstrand cross-link repair Source: UniProt
  3. translesion synthesis Source: UniProt
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00640000091272.
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

        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

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.
GeneTreei ENSGT00640000091272.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 96 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