Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q7Z5Q5 (DPOLN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DNA polymerase nu

EC=2.7.7.7
Gene names
Name:POLN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length900 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

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

Subcellular location

Nucleus Ref.1.

Tissue specificity

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

Sequence similarities

Belongs to the DNA polymerase type-A family.

Sequence caution

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z5Q5-1)

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.
Isoform 2 (identifier: Q7Z5Q5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     578-610: NIQGISKHPIQITTPKNFKGKEDKILTISPRAM → ICARQVASDFQKCVEVSDAMMNSSIFWWLLKLY
     611-899: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 900900DNA polymerase nu
PRO_0000227938

Natural variations

Alternative sequence578 – 61033NIQGI…SPRAM → ICARQVASDFQKCVEVSDAM MNSSIFWWLLKLY in isoform 2.
VSP_054402
Alternative sequence611 – 899289Missing in isoform 2.
VSP_054403
Natural variant1211Q → H. Ref.1 Ref.3
Corresponds to variant rs2353552 [ dbSNP | Ensembl ].
VAR_025647
Natural variant2011R → G. Ref.3
Corresponds to variant rs35884361 [ dbSNP | Ensembl ].
VAR_025648
Natural variant3101M → L. Ref.3
Corresponds to variant rs10018786 [ dbSNP | Ensembl ].
VAR_025649
Natural variant3151P → S. Ref.3
Corresponds to variant rs11725880 [ dbSNP | Ensembl ].
VAR_025650
Natural variant3361G → S. Ref.3
Corresponds to variant rs10011549 [ dbSNP | Ensembl ].
VAR_025651
Natural variant4251R → C. Ref.2 Ref.3
Corresponds to variant rs9328764 [ dbSNP | Ensembl ].
VAR_025652
Natural variant5021S → G. Ref.3
Corresponds to variant rs34574483 [ dbSNP | Ensembl ].
VAR_025653
Natural variant7111F → L. Ref.3
Corresponds to variant rs34554757 [ dbSNP | Ensembl ].
VAR_025654

Experimental info

Mutagenesis6231D → A: No detectable activity. Ref.1
Sequence conflict81V → A in BAG64670. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 21, 2006. Version 2.
Checksum: D44758D71BCD3F02

FASTA900100,307
        10         20         30         40         50         60 
MENYEALVGF DLCNTPLSSV AQKIMSAMHS GDLVDSKTWG KSTETMEVIN KSSVKYSVQL 

        70         80         90        100        110        120 
EDRKTQSPEK KDLKSLRSQT SRGSAKLSPQ SFSVRLTDQL SADQKQKSIS SLTLSSCLIP 

       130        140        150        160        170        180 
QYNQEASVLQ KKGHKRKHFL MENINNENKG SINLKRKHIT YNNLSEKTSK QMALEEDTDD 

       190        200        210        220        230        240 
AEGYLNSGNS GALKKHFCDI RHLDDWAKSQ LIEMLKQAAA LVITVMYTDG STQLGADQTP 

       250        260        270        280        290        300 
VSSVRGIVVL VKRQAEGGHG CPDAPACGPV LEGFVSDDPC IYIQIEHSAI WDQEQEAHQQ 

       310        320        330        340        350        360 
FARNVLFQTM KCKCPVICFN AKDFVRIVLQ FFGNDGSWKH VADFIGLDPR IAAWLIDPSD 

       370        380        390        400        410        420 
ATPSFEDLVE KYCEKSITVK VNSTYGNSSR NIVNQNVREN LKTLYRLTMD LCSKLKDYGL 

       430        440        450        460        470        480 
WQLFRTLELP LIPILAVMES HAIQVNKEEM EKTSALLGAR LKELEQEAHF VAGERFLITS 

       490        500        510        520        530        540 
NNQLREILFG KLKLHLLSQR NSLPRTGLQK YPSTSEAVLN ALRDLHPLPK IILEYRQVHK 

       550        560        570        580        590        600 
IKSTFVDGLL ACMKKGSISS TWNQTGTVTG RLSAKHPNIQ GISKHPIQIT TPKNFKGKED 

       610        620        630        640        650        660 
KILTISPRAM FVSSKGHTFL AADFSQIELR ILTHLSGDPE LLKLFQESER DDVFSTLTSQ 

       670        680        690        700        710        720 
WKDVPVEQVT HADREQTKKV VYAVVYGAGK ERLAACLGVP IQEAAQFLES FLQKYKKIKD 

       730        740        750        760        770        780 
FARAAIAQCH QTGCVVSIMG RRRPLPRIHA HDQQLRAQAE RQAVNFVVQG SAADLCKLAM 

       790        800        810        820        830        840 
IHVFTAVAAS HTLTARLVAQ IHDELLFEVE DPQIPECAAL VRRTMESLEQ VQALELQLQV 

       850        860        870        880        890        900 
PLKVSLSAGR SWGHLVPLQE AWGPPPGPCR TESPSNSLAA PGSPASTQPP PLHFSPSFCL 

« Hide

Isoform 2 [UniParc].

Checksum: EB21C241912D8601
Show »

FASTA61168,690

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3360.1.
RefSeqNP_861524.2. NM_181808.2. [Q7Z5Q5-1]
UniGeneHs.368454.

3D structure databases

ProteinModelPortalQ7Z5Q5.
SMRQ7Z5Q5. Positions 346-852.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131695. 10 interactions.
STRING9606.ENSP00000372316.

Chemistry

ChEMBLCHEMBL2010628.

PTM databases

PhosphoSiteQ7Z5Q5.

Polymorphism databases

DMDM90101282.

Proteomic databases

PaxDbQ7Z5Q5.
PRIDEQ7Z5Q5.

Protocols and materials databases

DNASU353497.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000382865; ENSP00000372316; ENSG00000130997.
ENST00000511885; ENSP00000435506; ENSG00000130997.
GeneID353497.
KEGGhsa:353497.
UCSCuc003ger.2. human. [Q7Z5Q5-1]

Organism-specific databases

CTD353497.
GeneCardsGC04M002073.
H-InvDBHIX0004033.
HGNCHGNC:18870. POLN.
MIM610887. gene.
neXtProtNX_Q7Z5Q5.
PharmGKBPA134979866.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0749.
HOGENOMHOG000230904.
HOVERGENHBG079981.
InParanoidQ7Z5Q5.
KOK16618.
OMAFEVEDSQ.
OrthoDBEOG7QG43B.
PhylomeDBQ7Z5Q5.
TreeFamTF337202.

Gene expression databases

BgeeQ7Z5Q5.
CleanExHS_POLN.
GenevestigatorQ7Z5Q5.

Family and domain databases

Gene3D3.30.420.10. 1 hit.
InterProIPR001098. DNA-dir_DNA_pol_A_palm_dom.
IPR002298. DNA_polymerase_A.
IPR012337. RNaseH-like_dom.
[Graphical view]
PfamPF00476. DNA_pol_A. 1 hit.
[Graphical view]
PRINTSPR00868. DNAPOLI.
SMARTSM00482. POLAc. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPOLN. human.
GeneWikiDNA_polymerase_nu.
GenomeRNAi353497.
NextBio35476941.
PROQ7Z5Q5.
SOURCESearch...

Entry information

Entry nameDPOLN_HUMAN
AccessionPrimary (citable) accession number: Q7Z5Q5
Secondary accession number(s): A2A336 expand/collapse secondary AC list , B4E158, Q4TTW4, Q6ZNF4
Entry history
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: March 21, 2006
Last modified: July 9, 2014
This is version 93 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM