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Reviewed, UniProtKB/Swiss-Prot Q9UNA4 (POLI_HUMAN)

Last modified November 24, 2009. Version 76. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    DNA polymerase iota
    EC=2.7.7.7
Alternative name(s):
    RAD30 homolog B
    Eta2
Gene names
Name: POLI
Synonyms: RAD30B
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length715 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Error-prone DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Favors Hoogsteen base-pairing in the active site. Inserts the correct base with high-fidelity opposite an adenosine template. Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine. May play a role in hypermutation of immunogobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but may not have lyase activity. Ref.6 Ref.7 Ref.8 Ref.9 Ref.11 Ref.12 Ref.13

Catalytic activity

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

Cofactor

Magnesium.

Subunit structure

Binds REV1L By similarity. Binds POLH.

Subcellular location

Nucleus. Note: Accumulates at replication forks after DNA damage. Ref.10

Tissue specificity

Ubiquitous. Highly expressed in testis. Ref.8 Ref.1

Domain

The catalytic core consists of fingers, palm and thumb subdomains, but the fingers and thumb subdomains are much smaller than in high-fidelity polymerases; residues from five sequence motifs of the Y-family cluster around an active site cleft that can accommodate DNA and nucleotide substrates with relaxed geometric constraints, with consequently higher rates of misincorporation and low processivity.

Sequence similarities

Belongs to the DNA polymerase type-Y family.

Contains 1 umuC domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

DAZAP2Q150382EBI-741774,EBI-724310

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 715715DNA polymerase iota
PRO_0000173988

Regions

Domain30 – 243214UmuC
Region300 – 3078DNA binding
Region343 – 36119DNA binding
Compositional bias564 – 59229Ser-rich

Sites

Active site1271Proton acceptor Potential
Metal binding341Magnesium
Metal binding1261Magnesium
Binding site391dNTP
Binding site711dNTP

Natural variations

Natural variant711R → G: dbSNP rs3218778. Ref.4
VAR_021239
Natural variant2361I → M: dbSNP rs3218784. Ref.4
VAR_021240
Natural variant2511E → K: dbSNP rs3218783. Ref.4
VAR_021241
Natural variant4491H → R: dbSNP rs3730823. Ref.4
VAR_021242
Natural variant5071F → S: dbSNP rs3218786. Ref.4 Ref.2
VAR_021243
Natural variant5351C → R: dbSNP rs3218787. Ref.4
VAR_021244
Natural variant7061T → A: dbSNP rs8305. Ref.1 Ref.4 Ref.5
VAR_021245

Experimental info

Sequence conflict3121S → T in CAB66605. Ref.3
Sequence conflict4081V → A in AAF63383. Ref.2
Sequence conflict4891D → G in AAF63383. Ref.2

Secondary structure

................................................................ 715
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9UNA4-1 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 3C223ED26CFDE4DB

FASTA71580,346
        10         20         30         40         50         60 
MELADVGAAA SSQGVHDQVL PTPNASSRVI VHVDLDCFYA QVEMISNPEL KDKPLGVQQK 

        70         80         90        100        110        120 
YLVVTCNYEA RKLGVKKLMN VRDAKEKCPQ LVLVNGEDLT RYREMSYKVT ELLEEFSPVV 

       130        140        150        160        170        180 
ERLGFDENFV DLTEMVEKRL QQLQSDELSA VTVSGHVYNN QSINLLDVLH IRLLVGSQIA 

       190        200        210        220        230        240 
AEMREAMYNQ LGLTGCAGVA SNKLLAKLVS GVFKPNQQTV LLPESCQHLI HSLNHIKEIP 

       250        260        270        280        290        300 
GIGYKTAKCL EALGINSVRD LQTFSPKILE KELGISVAQR IQKLSFGEDN SPVILSGPPQ 

       310        320        330        340        350        360 
SFSEEDSFKK CSSEVEAKNK IEELLASLLN RVCQDGRKPH TVRLIIRRYS SEKHYGRESR 

       370        380        390        400        410        420 
QCPIPSHVIQ KLGTGNYDVM TPMVDILMKL FRNMVNVKMP FHLTLLSVCF CNLKALNTAK 

       430        440        450        460        470        480 
KGLIDYYLMP SLSTTSRSGK HSFKMKDTHM EDFPKDKETN RDFLPSGRIE STRTRESPLD 

       490        500        510        520        530        540 
TTNFSKEKDI NEFPLCSLPE GVDQEVFKQL PVDIQEEILS GKSREKFQGK GSVSCPLHAS 

       550        560        570        580        590        600 
RGVLSFFSKK QMQDIPINPR DHLSSSKQVS SVSPCEPGTS GFNSSSSSYM SSQKDYSYYL 

       610        620        630        640        650        660 
DNRLKDERIS QGPKEPQGFH FTNSNPAVSA FHSFPNLQSE QLFSRNHTTD SHKQTVATDS 

       670        680        690        700        710 
HEGLTENREP DSVDEKITFP SDIDPQVFYE LPEAVQKELL AEWKRTGSDF HIGHK 

« Hide

References

« Hide 'large scale' references
[1]"Novel human and mouse homologs of Saccharomyces cerevisiae DNA polymerase eta."
McDonald J.P., Rapic-Otrin V., Epstein J.A., Broughton B.C., Wang X., Lehmann A.R., Wolgemuth D.J., Woodgate R.
Genomics 60:20-30(1999) [PubMed: 10458907] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-706, TISSUE SPECIFICITY.
Tissue: Umbilical vein endothelial cell.
[2]"Human eta2 gene homologous to bacterial UmuC and Rev1 genes."
Poltoratsky V.P., Scharff M.D.
Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT SER-507.
[3]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[4]NIEHS SNPs program
Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-71; MET-236; LYS-251; ARG-449; SER-507; ARG-535 AND ALA-706.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-706.
Tissue: Uterus.
[6]"Misinsertion and bypass of thymine-thymine dimers by human DNA polymerase iota."
Tissier A., Frank E.G., McDonald J.P., Iwai S., Hanaoka F., Woodgate R.
EMBO J. 19:5259-5266(2000) [PubMed: 11013228] [Abstract]
Cited for: FUNCTION.
[7]"5'-deoxyribose phosphate lyase activity of human DNA polymerase iota in vitro."
Bebenek K., Tissier A., Frank E.G., McDonald J.P., Prasad R., Wilson S.H., Woodgate R., Kunkel T.A.
Science 291:2156-2159(2001) [PubMed: 11251121] [Abstract]
Cited for: FUNCTION, SCHIFF BASE FORMATION.
[8]"Altered nucleotide misinsertion fidelity associated with poliota-dependent replication at the end of a DNA template."
Frank E.G., Tissier A., McDonald J.P., Rapic-Otrin V., Zeng X., Gearhart P.J., Woodgate R.
EMBO J. 20:2914-2922(2001) [PubMed: 11387224] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY.
[9]"Induction of somatic hypermutation in immunoglobulin genes is dependent on DNA polymerase iota."
Faili A., Aoufouchi S., Flatter E., Gueranger Q., Reynaud C.-A., Weill J.-C.
Nature 419:944-947(2002) [PubMed: 12410315] [Abstract]
Cited for: FUNCTION.
[10]"Localization of DNA polymerases eta and iota to the replication machinery is tightly co-ordinated in human cells."
Kannouche P.L., Fernandez de Henestrosa A.R., Coull B., Vidal A.E., Gray C., Zicha D., Woodgate R., Lehmann A.R.
EMBO J. 22:1223-1233(2003) [PubMed: 12606586] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH POLH.
[11]"A mechanism for the exclusion of low-fidelity human Y-family DNA polymerases from base excision repair."
Haracska L., Prakash L., Prakash S.
Genes Dev. 17:2777-2785(2003) [PubMed: 14630940] [Abstract]
Cited for: FUNCTION, SCHIFF BASE FORMATION.
[12]"Efficient and error-free replication past a minor-groove DNA adduct by the sequential action of human DNA polymerases iota and kappa."
Washington M.T., Minko I.G., Johnson R.E., Wolfle W.T., Harris T.M., Lloyd R.S., Prakash S., Prakash L.
Mol. Cell. Biol. 24:5687-5693(2004) [PubMed: 15199127] [Abstract]
Cited for: FUNCTION.
[13]"Replication by human DNA polymerase-iota occurs by Hoogsteen base-pairing."
Nair D.T., Johnson R.E., Prakash S., Prakash L., Aggarwal A.K.
Nature 430:377-380(2004) [PubMed: 15254543] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 27-414 IN COMPLEX WITH DNA AND NUCLEOTIDE, FUNCTION.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

AF140501 mRNA. Translation: AAD50381.1.
AF245438 mRNA. Translation: AAF63383.1.
AL136670 mRNA. Translation: CAB66605.1.
AY094607 Genomic DNA. Translation: AAM11872.1.
BC032662 mRNA. Translation: AAH32662.1.
IPIIPI00296840.
RefSeqNP_009126.2.
UniGeneHs.438533

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
1T3NX-ray2.30A/B27-414[»]
1ZETX-ray2.30A27-414[»]
2ALZX-ray2.50A25-414[»]
2DPIX-ray2.30A1-420[»]
2DPJX-ray2.30A1-420[»]
2FLLX-ray2.60A1-420[»]
2FLNX-ray2.50A1-420[»]
2FLPX-ray2.40A1-420[»]
3EPGX-ray2.50A1-420[»]
3EPIX-ray2.90A1-420[»]
3G6VX-ray2.20A1-420[»]
3G6XX-ray2.08A1-420[»]
3G6YX-ray2.10A1-420[»]
3GV5X-ray2.00B/D1-420[»]
3GV7X-ray2.20B1-420[»]
3GV8X-ray2.00B1-420[»]
3H40X-ray2.30A26-414[»]
3H4BX-ray2.85A25-414[»]
3H4DX-ray2.20A25-414[»]
ModBaseSearch...

Protein-protein interaction databases

IntActQ9UNA4. 4 interactions.
STRINGQ9UNA4.

Proteomic databases

PRIDEQ9UNA4.

Genome annotation databases

EnsemblENST00000217800; ENSP00000217800; ENSG00000101751; Homo sapiens. [Genome view]
ENST00000406285; ENSP00000385196; ENSG00000101751; Homo sapiens. [Genome view]
GeneID11201.
KEGGhsa:11201.
UCSCuc002lfj.2. human.

Organism-specific databases

CTD11201.
GeneCardsGC18P050049.
H-InvDBHIX0014457.
HGNCHGNC:9182. POLI.
HPAHPA012000.
MIM605252. gene.
PharmGKBPA33502.
GenAtlasSearch...

Phylogenomic databases

HOGENOMQ9UNA4.
HOVERGENQ9UNA4.

Enzyme and pathway databases

BRENDA2.7.7.7. 247.

Gene expression databases

ArrayExpressQ9UNA4.
BgeeQ9UNA4.
CleanExHS_POLI.
GenevestigatorQ9UNA4.
GermOnlineENSG00000101751. Homo sapiens.

Family and domain databases

InterProIPR017961. DNA_pol_Y-fam_little_finger.
IPR001126. DNA_repair_prot_UmuC-like.
IPR017963. DNA_repair_prot_UmuC-like_N.
[Graphical view]
PANTHERPTHR11076. UMUC_like. 1 hit.
PfamPF00817. IMS. 1 hit.
[Graphical view]
PROSITEPS50173. UMUC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio42637.
SOURCESearch...

Entry information

Entry namePOLI_HUMAN
AccessionPrimary (citable) accession number: Q9UNA4
Secondary accession number(s): Q8N590, Q9H0S1, Q9NYH6
Entry history
Integrated into UniProtKB/Swiss-Prot: February 15, 2005
Last sequence update: May 1, 2000
Last modified: November 24, 2009
This is version 76 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents