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Protein

DNA polymerase nu

Gene

POLN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • 5'-3' exonuclease activity Source: GO_Central
  • 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
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

Enzyme and pathway databases

BioCyciZFISH:HS05467-MONOMER.
ReactomeiR-HSA-6783310. Fanconi Anemia Pathway.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:18870. POLN.

Subcellular locationi

  • Nucleus 1 Publication

GO - Cellular componenti

  • cytoplasm Source: GO_Central
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi623D → A: No detectable activity. 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

EPDiQ7Z5Q5.
PaxDbiQ7Z5Q5.
PeptideAtlasiQ7Z5Q5.
PRIDEiQ7Z5Q5.

PTM databases

iPTMnetiQ7Z5Q5.
PhosphoSitePlusiQ7Z5Q5.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000130997.
CleanExiHS_POLN.
ExpressionAtlasiQ7Z5Q5. baseline and differential.
GenevisibleiQ7Z5Q5. HS.

Organism-specific databases

HPAiHPA035939.
HPA035940.

Interactioni

GO - Molecular functioni

  • cyclin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi131695. 10 interactors.
STRINGi9606.ENSP00000372316.

Chemistry databases

BindingDBiQ7Z5Q5.

Structurei

Secondary structure

1900
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi196 – 199Combined sources4
Helixi200 – 202Combined sources3
Helixi205 – 217Combined sources13
Beta strandi219 – 227Combined sources9
Turni233 – 235Combined sources3
Beta strandi244 – 253Combined sources10
Beta strandi273 – 275Combined sources3
Beta strandi280 – 284Combined sources5
Helixi293 – 311Combined sources19
Beta strandi316 – 320Combined sources5
Helixi321 – 332Combined sources12
Helixi333 – 335Combined sources3
Helixi338 – 340Combined sources3
Helixi349 – 356Combined sources8
Beta strandi358 – 360Combined sources3
Helixi365 – 372Combined sources8
Helixi390 – 417Combined sources28
Helixi421 – 426Combined sources6
Turni427 – 430Combined sources4
Helixi431 – 440Combined sources10
Beta strandi443 – 445Combined sources3
Helixi447 – 472Combined sources26
Helixi481 – 488Combined sources8
Turni489 – 491Combined sources3
Helixi494 – 497Combined sources4
Beta strandi500 – 506Combined sources7
Beta strandi508 – 511Combined sources4
Helixi516 – 521Combined sources6
Turni522 – 525Combined sources4
Helixi528 – 545Combined sources18
Helixi547 – 550Combined sources4
Beta strandi561 – 566Combined sources6
Beta strandi568 – 570Combined sources3
Beta strandi573 – 577Combined sources5
Turni579 – 581Combined sources3
Beta strandi587 – 590Combined sources4
Beta strandi602 – 605Combined sources4
Helixi607 – 610Combined sources4
Beta strandi618 – 624Combined sources7
Helixi627 – 636Combined sources10
Helixi639 – 643Combined sources5
Helixi654 – 662Combined sources9
Helixi666 – 668Combined sources3
Helixi671 – 685Combined sources15
Helixi690 – 696Combined sources7
Helixi701 – 714Combined sources14
Helixi717 – 732Combined sources16
Beta strandi733 – 736Combined sources4
Beta strandi738 – 740Combined sources3
Beta strandi742 – 744Combined sources3
Helixi746 – 749Combined sources4
Helixi753 – 788Combined sources36
Beta strandi796 – 801Combined sources6
Beta strandi804 – 809Combined sources6
Helixi811 – 813Combined sources3
Helixi814 – 826Combined sources13
Helixi827 – 829Combined sources3
Beta strandi832 – 834Combined sources3
Beta strandi844 – 853Combined sources10

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...

Family & Domainsi

Sequence similaritiesi

Belongs to the DNA polymerase type-A family.Curated

Phylogenomic databases

eggNOGiENOG410IPH2. Eukaryota.
COG0749. LUCA.
GeneTreeiENSGT00860000133900.
HOGENOMiHOG000230904.
HOVERGENiHBG079981.
InParanoidiQ7Z5Q5.
KOiK16618.
OMAiKCKCPVI.
OrthoDBiEOG091G07H6.
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. AlignAdd to basket

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 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 → H.2 PublicationsCorresponds to variant rs2353552dbSNPEnsembl.1
Natural variantiVAR_025648201R → G.1 PublicationCorresponds to variant rs35884361dbSNPEnsembl.1
Natural variantiVAR_025649310M → L.1 PublicationCorresponds to variant rs10018786dbSNPEnsembl.1
Natural variantiVAR_025650315P → S.1 PublicationCorresponds to variant rs11725880dbSNPEnsembl.1
Natural variantiVAR_025651336G → S.1 PublicationCorresponds to variant rs10011549dbSNPEnsembl.1
Natural variantiVAR_025652425R → C.2 PublicationsCorresponds to variant rs9328764dbSNPEnsembl.1
Natural variantiVAR_025653502S → G.1 PublicationCorresponds to variant rs34574483dbSNPEnsembl.1
Natural variantiVAR_025654711F → L.1 PublicationCorresponds to variant rs34554757dbSNPEnsembl.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, 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_181808.3. [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

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, 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_181808.3. [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. 10 interactors.
STRINGi9606.ENSP00000372316.

Chemistry databases

BindingDBiQ7Z5Q5.
ChEMBLiCHEMBL2010628.

PTM databases

iPTMnetiQ7Z5Q5.
PhosphoSitePlusiQ7Z5Q5.

Polymorphism and mutation databases

BioMutaiPOLN.
DMDMi90101282.

Proteomic databases

EPDiQ7Z5Q5.
PaxDbiQ7Z5Q5.
PeptideAtlasiQ7Z5Q5.
PRIDEiQ7Z5Q5.

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.
GeneCardsiPOLN.
H-InvDBHIX0004033.
HGNCiHGNC:18870. POLN.
HPAiHPA035939.
HPA035940.
MIMi610887. gene.
neXtProtiNX_Q7Z5Q5.
OpenTargetsiENSG00000130997.
PharmGKBiPA134979866.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IPH2. Eukaryota.
COG0749. LUCA.
GeneTreeiENSGT00860000133900.
HOGENOMiHOG000230904.
HOVERGENiHBG079981.
InParanoidiQ7Z5Q5.
KOiK16618.
OMAiKCKCPVI.
OrthoDBiEOG091G07H6.
PhylomeDBiQ7Z5Q5.
TreeFamiTF337202.

Enzyme and pathway databases

BioCyciZFISH:HS05467-MONOMER.
ReactomeiR-HSA-6783310. Fanconi Anemia Pathway.

Miscellaneous databases

ChiTaRSiPOLN. human.
GeneWikiiDNA_polymerase_nu.
GenomeRNAii353497.
PROiQ7Z5Q5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130997.
CleanExiHS_POLN.
ExpressionAtlasiQ7Z5Q5. baseline and differential.
GenevisibleiQ7Z5Q5. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 117 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.