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Q9UNA4 (POLI_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DNA polymerase iota

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

Protein attributes

Sequence length740 AA.
Sequence statusComplete.
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.7 Ref.8 Ref.9 Ref.10 Ref.12 Ref.13 Ref.14

Catalytic activity

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

Cofactor

Magnesium.

Subunit structure

Interacts with REV1 By similarity. Interacts with POLH. Ref.11

Subcellular location

Nucleus. Note: Accumulates at replication forks after DNA damage. Ref.11

Tissue specificity

Ubiquitous. Highly expressed in testis. Ref.3 Ref.9

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.

Sequence caution

The sequence AAD50381.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAF63383.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAH32662.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAM11872.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAB66605.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 740740DNA polymerase iota
PRO_0000173988

Regions

Domain55 – 268214UmuC
Region325 – 3328DNA binding
Region368 – 38619DNA binding
Compositional bias589 – 61729Ser-rich

Sites

Active site1521Proton acceptor Potential
Metal binding591Magnesium
Metal binding1511Magnesium
Binding site641dNTP
Binding site961dNTP

Natural variations

Natural variant961R → G. Ref.1
Corresponds to variant rs3218778 [ dbSNP | Ensembl ].
VAR_021239
Natural variant2611I → M. Ref.1
Corresponds to variant rs3218784 [ dbSNP | Ensembl ].
VAR_021240
Natural variant2761E → K. Ref.1
Corresponds to variant rs3218783 [ dbSNP | Ensembl ].
VAR_021241
Natural variant4741H → R. Ref.1
Corresponds to variant rs3730823 [ dbSNP | Ensembl ].
VAR_021242
Natural variant5321F → S. Ref.1 Ref.4
Corresponds to variant rs3218786 [ dbSNP | Ensembl ].
VAR_021243
Natural variant5601C → R. Ref.1
Corresponds to variant rs3218787 [ dbSNP | Ensembl ].
VAR_021244
Natural variant7311A → T. Ref.3 Ref.6
Corresponds to variant rs8305 [ dbSNP | Ensembl ].
VAR_021245

Experimental info

Sequence conflict151Missing in AAD50381. Ref.3
Sequence conflict151Missing in CAB66605. Ref.4
Sequence conflict151Missing in AAF63383. Ref.6
Sequence conflict3371S → T in CAB66605. Ref.4
Sequence conflict4331V → A in AAF63383. Ref.6
Sequence conflict5141D → G in AAF63383. Ref.6

Secondary structure

..................................................................................... 740
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9UNA4 [UniParc].

Last modified April 5, 2011. Version 3.
Checksum: C1A5BF0894E91FDF

FASTA74083,006
        10         20         30         40         50         60 
MEKLGVEPEE EGGGDDDEED AEAWAMELAD VGAAASSQGV HDQVLPTPNA SSRVIVHVDL 

        70         80         90        100        110        120 
DCFYAQVEMI SNPELKDKPL GVQQKYLVVT CNYEARKLGV KKLMNVRDAK EKCPQLVLVN 

       130        140        150        160        170        180 
GEDLTRYREM SYKVTELLEE FSPVVERLGF DENFVDLTEM VEKRLQQLQS DELSAVTVSG 

       190        200        210        220        230        240 
HVYNNQSINL LDVLHIRLLV GSQIAAEMRE AMYNQLGLTG CAGVASNKLL AKLVSGVFKP 

       250        260        270        280        290        300 
NQQTVLLPES CQHLIHSLNH IKEIPGIGYK TAKCLEALGI NSVRDLQTFS PKILEKELGI 

       310        320        330        340        350        360 
SVAQRIQKLS FGEDNSPVIL SGPPQSFSEE DSFKKCSSEV EAKNKIEELL ASLLNRVCQD 

       370        380        390        400        410        420 
GRKPHTVRLI IRRYSSEKHY GRESRQCPIP SHVIQKLGTG NYDVMTPMVD ILMKLFRNMV 

       430        440        450        460        470        480 
NVKMPFHLTL LSVCFCNLKA LNTAKKGLID YYLMPSLSTT SRSGKHSFKM KDTHMEDFPK 

       490        500        510        520        530        540 
DKETNRDFLP SGRIESTRTR ESPLDTTNFS KEKDINEFPL CSLPEGVDQE VFKQLPVDIQ 

       550        560        570        580        590        600 
EEILSGKSRE KFQGKGSVSC PLHASRGVLS FFSKKQMQDI PINPRDHLSS SKQVSSVSPC 

       610        620        630        640        650        660 
EPGTSGFNSS SSSYMSSQKD YSYYLDNRLK DERISQGPKE PQGFHFTNSN PAVSAFHSFP 

       670        680        690        700        710        720 
NLQSEQLFSR NHTTDSHKQT VATDSHEGLT ENREPDSVDE KITFPSDIDP QVFYELPEAV 

       730        740 
QKELLAEWKR AGSDFHIGHK 

« Hide

References

« Hide 'large scale' references
[1]NIEHS SNPs program
Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-96; MET-261; LYS-276; ARG-474; SER-532 AND ARG-560.
[2]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-740, VARIANT THR-731, TISSUE SPECIFICITY.
Tissue: Umbilical vein endothelial cell.
[4]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 10-740, VARIANT SER-532.
Tissue: Brain.
[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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 12-740.
Tissue: Uterus.
[6]"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] OF 14-740, VARIANT THR-731.
[7]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[8]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION, SCHIFF BASE FORMATION.
[9]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY.
[10]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[11]"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] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH POLH.
[12]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION, SCHIFF BASE FORMATION.
[13]"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] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[14]"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] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 52-439 IN COMPLEX WITH DNA AND NUCLEOTIDE, FUNCTION.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY094607 Genomic DNA. Translation: AAM11872.1. Sequence problems.
AC093462 Genomic DNA. No translation available.
AF140501 mRNA. Translation: AAD50381.1. Different initiation.
AL136670 mRNA. Translation: CAB66605.1. Different initiation.
BC032662 mRNA. Translation: AAH32662.1. Different initiation.
AF245438 mRNA. Translation: AAF63383.1. Different initiation.
CCDSCCDS11954.2.
RefSeqNP_009126.2. NM_007195.2.
UniGeneHs.438533.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1T3NX-ray2.30A/B52-439[»]
1ZETX-ray2.30A52-439[»]
2ALZX-ray2.50A50-439[»]
2DPIX-ray2.30A26-445[»]
2DPJX-ray2.30A26-445[»]
2FLLX-ray2.60A26-445[»]
2FLNX-ray2.50A26-445[»]
2FLPX-ray2.40A26-445[»]
2KHUNMR-A697-740[»]
2KHWNMR-A697-740[»]
2KTFNMR-B704-730[»]
2L0FNMR-B699-740[»]
2L0GNMR-A704-730[»]
3EPGX-ray2.50A26-445[»]
3EPIX-ray2.90A26-445[»]
3G6VX-ray2.20A26-445[»]
3G6XX-ray2.08A26-445[»]
3G6YX-ray2.10A26-445[»]
3GV5X-ray2.00B/D26-445[»]
3GV7X-ray2.20B26-445[»]
3GV8X-ray2.00B26-445[»]
3H40X-ray2.30A51-439[»]
3H4BX-ray2.85A50-439[»]
3H4DX-ray2.20A50-439[»]
3NGDX-ray2.80A26-445[»]
3OSNX-ray1.90A26-445[»]
3Q8PX-ray1.95B26-445[»]
3Q8QX-ray2.03B26-445[»]
3Q8RX-ray2.45B26-445[»]
3Q8SX-ray2.09B26-445[»]
4EBCX-ray2.90A26-445[»]
4EBDX-ray2.57A26-445[»]
4EBEX-ray2.10A26-445[»]
4EYHX-ray2.90B26-445[»]
4EYIX-ray2.90B26-445[»]
4FS1X-ray2.50A26-445[»]
4FS2X-ray2.05A26-445[»]
ProteinModelPortalQ9UNA4.
SMRQ9UNA4. Positions 52-439, 518-553, 701-732.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116370. 13 interactions.
IntActQ9UNA4. 9 interactions.
MINTMINT-1189678.
STRING9606.ENSP00000217800.

Chemistry

ChEMBLCHEMBL5391.

PTM databases

PhosphoSiteQ9UNA4.

Polymorphism databases

DMDM327478565.

Proteomic databases

MaxQBQ9UNA4.
PaxDbQ9UNA4.
PRIDEQ9UNA4.

Protocols and materials databases

DNASU11201.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000579534; ENSP00000462664; ENSG00000101751.
GeneID11201.
KEGGhsa:11201.
UCSCuc002lfj.4. human.

Organism-specific databases

CTD11201.
GeneCardsGC18P051731.
H-InvDBHIX0014457.
HGNCHGNC:9182. POLI.
HPAHPA012000.
MIM605252. gene.
neXtProtNX_Q9UNA4.
PharmGKBPA33502.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0389.
HOGENOMHOG000234325.
HOVERGENHBG053634.
InParanoidQ9UNA4.
KOK03510.
OMACFCNLKA.
OrthoDBEOG7C8GGJ.
PhylomeDBQ9UNA4.
TreeFamTF324222.

Gene expression databases

ArrayExpressQ9UNA4.
BgeeQ9UNA4.
CleanExHS_POLI.
GenevestigatorQ9UNA4.

Family and domain databases

Gene3D3.30.1490.100. 1 hit.
InterProIPR017961. DNA_pol_Y-fam_little_finger.
IPR001126. DNA_repair_prot_UmuC-like.
IPR017963. DNA_repair_prot_UmuC-like_N.
[Graphical view]
PfamPF00817. IMS. 1 hit.
PF11799. IMS_C. 1 hit.
[Graphical view]
SUPFAMSSF100879. SSF100879. 1 hit.
PROSITEPS50173. UMUC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPOLI. human.
EvolutionaryTraceQ9UNA4.
GeneWikiPOLI.
GenomeRNAi11201.
NextBio42637.
PROQ9UNA4.
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: April 5, 2011
Last modified: July 9, 2014
This is version 119 of the entry and version 3 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 18

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