Q7Z5Q5 (DPOLN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
DNA polymerase nu
EC=2.7.7.7

Gene names

Name:

POLN

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	900 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	DNA damage DNA repair DNA replication
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	DNA-directed DNA polymerase Nucleotidyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA repair Inferred from electronic annotation. Source: UniProtKB-KW DNA replication Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW DNA-directed DNA polymerase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 900	900	DNA polymerase nu		PRO_0000227938
Natural variations
	Natural variant	121	1	Q → H. Ref.1 Ref.3 Corresponds to variant rs2353552 [ dbSNP | Ensembl ].		VAR_025647
	Natural variant	201	1	R → G. Ref.3 Corresponds to variant rs35884361 [ dbSNP | Ensembl ].		VAR_025648
	Natural variant	310	1	M → L. Ref.3 Corresponds to variant rs10018786 [ dbSNP | Ensembl ].		VAR_025649
	Natural variant	315	1	P → S. Ref.3 Corresponds to variant rs11725880 [ dbSNP | Ensembl ].		VAR_025650
	Natural variant	336	1	G → S. Ref.3 Corresponds to variant rs10011549 [ dbSNP | Ensembl ].		VAR_025651
	Natural variant	425	1	R → C. Ref.2 Ref.3 Corresponds to variant rs9328764 [ dbSNP | Ensembl ].		VAR_025652
	Natural variant	502	1	S → G. Ref.3 Corresponds to variant rs34574483 [ dbSNP | Ensembl ].		VAR_025653
	Natural variant	711	1	F → L. Ref.3 Corresponds to variant rs34554757 [ dbSNP | Ensembl ].		VAR_025654
Experimental info
	Mutagenesis	623	1	D → A: No detectable activity. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q7Z5Q5 [UniParc]. Last modified March 21, 2006. Version 2. Checksum: D44758D71BCD3F02	FASTA	900	100,307
	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

References

	« Hide 'large scale' referencesShow '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], 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], VARIANT CYS-425. Tissue: Brain.
[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]	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. , 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

NIEHS-SNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY136549 mRNA. Translation: AAN52116.1. AK131239 mRNA. Translation: BAD18421.1. Sequence problems. 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.
IPI	IPI00385298.
RefSeq	NP_861524.2. NM_181808.2.
UniGene	Hs.368454.
3D structure databases
ProteinModelPortal	Q7Z5Q5.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000372316.
PTM databases
PhosphoSite	Q7Z5Q5.
Polymorphism databases
DMDM	90101282.
Proteomic databases
PaxDb	Q7Z5Q5.
PRIDE	Q7Z5Q5.
Protocols and materials databases
DNASU	353497.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382865; ENSP00000372316; ENSG00000130997. ENST00000511885; ENSP00000435506; ENSG00000130997.
GeneID	353497.
KEGG	hsa:353497.
UCSC	uc003ger.2. human.
Organism-specific databases
CTD	353497.
GeneCards	GC04M002040.
H-InvDB	HIX0004033.
HGNC	HGNC:18870. POLN.
MIM	610887. gene.
neXtProt	NX_Q7Z5Q5.
PharmGKB	PA134979866.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0749.
HOGENOM	HOG000230904.
HOVERGEN	HBG079981.
InParanoid	Q7Z5Q5.
KO	K16618.
OMA	CKCPVIC.
OrthoDB	EOG4VQ9NK.
Gene expression databases
Bgee	Q7Z5Q5.
CleanEx	HS_POLN.
Genevestigator	Q7Z5Q5.
GermOnline	ENSG00000130997. Homo sapiens.
Family and domain databases
InterPro	IPR001098. DNA-dir_DNA_pol_A_palm_dom. IPR002298. DNA_polymerase_A. [Graphical view]
Pfam	PF00476. DNA_pol_A. 1 hit. [Graphical view]
PRINTS	PR00868. DNAPOLI.
SMART	SM00482. POLAc. 1 hit. [Graphical view]
PROSITE	PS00447. DNA_POLYMERASE_A. False negative. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	POLN. human.
GenomeRNAi	353497.
NextBio	99808.
SOURCE	Search...

Entry information

Entry name

DPOLN_HUMAN

Accession

Primary (citable) accession number: Q7Z5Q5
Secondary accession number(s): A2A336, Q4TTW4, Q6ZNF4

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 21, 2006
Last sequence update:	March 21, 2006
Last modified:	May 1, 2013
This is version 81 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.