Human Gene POLL (ENST00000370162.8_8) from GENCODE V47lift37
  Description: DNA polymerase lambda, transcript variant 1 (from RefSeq NM_001174084.2)
Gencode Transcript: ENST00000370162.8_8
Gencode Gene: ENSG00000166169.17_15
Transcript (Including UTRs)
   Position: hg19 chr10:103,338,639-103,348,014 Size: 9,376 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr10:103,339,210-103,347,117 Size: 7,908 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:103,338,639-103,348,014)mRNA (may differ from genome)Protein (575 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DPOLL_HUMAN
DESCRIPTION: RecName: Full=DNA polymerase lambda; Short=Pol Lambda; EC=2.7.7.7; EC=4.2.99.-; AltName: Full=DNA polymerase beta-2; Short=Pol beta2; AltName: Full=DNA polymerase kappa;
FUNCTION: Repair polymerase. Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA. Has both DNA polymerase and terminal transferase activities. Has a 5'-deoxyribose-5-phosphate lyase (dRP lyase) activity.
CATALYTIC ACTIVITY: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
COFACTOR: Manganese.
SUBUNIT: Binds PCNA.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in a number of tissues. Abundant in testis.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the DNA polymerase type-X family.
SIMILARITY: Contains 1 BRCT domain.
SEQUENCE CAUTION: Sequence=BAB14050.1; Type=Erroneous initiation;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/poll/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POLL
Diseases sorted by gene-association score: histrionic personality disorder (11), split-hand/foot malformation 3 (7), split-hand/foot malformation 5 (5), split hand-foot malformation 2 (5), split-hand/foot malformation 4 (5), primary ciliary dyskinesia (2), patent foramen ovale (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.88 RPKM in Testis
Total median expression: 498.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -192.40482-0.399 Picture PostScript Text
3' UTR -240.60571-0.421 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001357 - BRCT_dom
IPR002054 - DNA-dir_DNA_pol_X
IPR010996 - DNA-dir_DNA_pol_X_beta-like_N
IPR019843 - DNA_pol-X_BS
IPR018944 - DNA_pol_lambd_fingers_domain
IPR022312 - DNA_pol_X
IPR002008 - DNA_pol_X_beta-like
IPR003583 - Hlx-hairpin-Hlx_DNA-bd_motif

Pfam Domains:
PF10391 - Fingers domain of DNA polymerase lambda
PF14716 - Helix-hairpin-helix domain
PF14791 - DNA polymerase beta thumb
PF14792 - DNA polymerase beta palm

SCOP Domains:
81585 - PsbU/PolX domain-like
47781 - RuvA domain 2-like
47794 - Rad51 N-terminal domain-like
47802 - DNA polymerase beta, N-terminal domain-like
52113 - BRCT domain
81301 - Nucleotidyltransferase
160975 - AF1531-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1NZP - NMR MuPIT 1RZT - X-ray MuPIT 1XSL - X-ray MuPIT 1XSN - X-ray MuPIT 1XSP - X-ray MuPIT 2BCQ - X-ray MuPIT 2BCR - X-ray MuPIT 2BCS - X-ray MuPIT 2BCU - X-ray MuPIT 2BCV - X-ray MuPIT 2GWS - X-ray MuPIT 2JW5 - NMR MuPIT 2PFN - X-ray MuPIT 2PFO - X-ray MuPIT 2PFP - X-ray MuPIT 2PFQ - X-ray MuPIT 3C5F - X-ray MuPIT 3C5G - X-ray MuPIT 3HW8 - X-ray MuPIT 3HWT - X-ray MuPIT 3HX0 - X-ray MuPIT 3MDA - X-ray MuPIT 3MDC - X-ray MuPIT 3MGH - X-ray MuPIT 3MGI - X-ray MuPIT 3PML - X-ray MuPIT 3PMN - X-ray MuPIT 3PNC - X-ray MuPIT 3UPQ - X-ray MuPIT 3UQ0 - X-ray MuPIT 3UQ2 - X-ray MuPIT 4FO6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UGP5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003887 DNA-directed DNA polymerase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0016829 lyase activity
GO:0034061 DNA polymerase activity
GO:0046872 metal ion binding
GO:0051575 5'-deoxyribose-5-phosphate lyase activity

Biological Process:
GO:0000724 double-strand break repair via homologous recombination
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006287 base-excision repair, gap-filling
GO:0006289 nucleotide-excision repair
GO:0006303 double-strand break repair via nonhomologous end joining
GO:0006974 cellular response to DNA damage stimulus
GO:0016446 somatic hypermutation of immunoglobulin genes
GO:0071897 DNA biosynthetic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  AK128521 - Homo sapiens cDNA FLJ46679 fis, clone TRACH3010331, highly similar to Homo sapiens polymerase (DNA directed), lambda (POLL).
LF211349 - JP 2014500723-A/18852: Polycomb-Associated Non-Coding RNAs.
AF218027 - Homo sapiens clone PP712 unknown mRNA.
AF161019 - Homo sapiens DNA polymerase lambda (Pol lambda) mRNA, complete cds.
BC003548 - Homo sapiens polymerase (DNA directed), lambda, mRNA (cDNA clone MGC:1149 IMAGE:3536366), complete cds.
BC068529 - Homo sapiens polymerase (DNA directed), lambda, mRNA (cDNA clone MGC:87359 IMAGE:5267859), complete cds.
AJ131890 - Homo sapiens mRNA for DNA polymerase lambda (POLL gene).
AK094956 - Homo sapiens cDNA FLJ37637 fis, clone BRCOC2018877, highly similar to Homo sapiens mRNA for DNA polymerase lambda (POLL gene).
AK091106 - Homo sapiens cDNA FLJ33787 fis, clone BRSSN2009119.
AX746781 - Sequence 306 from Patent EP1308459.
AK127896 - Homo sapiens cDNA FLJ46002 fis, clone SMINT2011509, highly similar to DNA polymerase lambda (EC 2.7.7.7).
AK022476 - Homo sapiens cDNA FLJ12414 fis, clone MAMMA1003013, weakly similar to DNA POLYMERASE BETA (EC 2.7.7.7).
AK021600 - Homo sapiens cDNA FLJ11538 fis, clone HEMBA1002746, weakly similar to DNA POLYMERASE BETA (EC 2.7.7.7).
JD220226 - Sequence 201250 from Patent EP1572962.
AK293602 - Homo sapiens cDNA FLJ55191 complete cds, highly similar to DNA polymerase lambda (EC 2.7.7.7).
JD219309 - Sequence 200333 from Patent EP1572962.
JD086265 - Sequence 67289 from Patent EP1572962.
JD108915 - Sequence 89939 from Patent EP1572962.
JD453409 - Sequence 434433 from Patent EP1572962.
JD483756 - Sequence 464780 from Patent EP1572962.
AK292225 - Homo sapiens cDNA FLJ77175 complete cds, highly similar to Homo sapiens DNA polymerase lamda2 mRNA.
AK293421 - Homo sapiens cDNA FLJ53301 complete cds, highly similar to DNA polymerase lambda (EC 2.7.7.7).
JD210546 - Sequence 191570 from Patent EP1572962.
JD300712 - Sequence 281736 from Patent EP1572962.
JD068676 - Sequence 49700 from Patent EP1572962.
JD205550 - Sequence 186574 from Patent EP1572962.
AK300862 - Homo sapiens cDNA FLJ54038 complete cds, highly similar to DNA polymerase lambda (EC 2.7.7.7).
JD260928 - Sequence 241952 from Patent EP1572962.
JD122378 - Sequence 103402 from Patent EP1572962.
JD383569 - Sequence 364593 from Patent EP1572962.
JD216537 - Sequence 197561 from Patent EP1572962.
LF345799 - JP 2014500723-A/153302: Polycomb-Associated Non-Coding RNAs.
JD170035 - Sequence 151059 from Patent EP1572962.
JD325019 - Sequence 306043 from Patent EP1572962.
JD224692 - Sequence 205716 from Patent EP1572962.
JD054119 - Sequence 35143 from Patent EP1572962.
JD209152 - Sequence 190176 from Patent EP1572962.
JD348599 - Sequence 329623 from Patent EP1572962.
AF283478 - Homo sapiens DNA polymerase beta2 mRNA, complete cds.
AY302442 - Homo sapiens DNA polymerase lamda2 mRNA, complete cds.
KJ902471 - Synthetic construct Homo sapiens clone ccsbBroadEn_11865 POLL gene, encodes complete protein.
AB384717 - Synthetic construct DNA, clone: pF1KB3002, Homo sapiens POLL gene for DNA polymerase lambda, complete cds, without stop codon, in Flexi system.
AJ844640 - Homo sapiens partial POLL pseudogene mRNA.
AJ844642 - Homo sapiens partial mRNA for DNA polymerase lambda, shorter clone (POLL gene).
AJ844641 - Homo sapiens partial mRNA for DNA polymerase lambda (POLL gene).
LF345800 - JP 2014500723-A/153303: Polycomb-Associated Non-Coding RNAs.
LF345801 - JP 2014500723-A/153304: Polycomb-Associated Non-Coding RNAs.
LF345803 - JP 2014500723-A/153306: Polycomb-Associated Non-Coding RNAs.
LF345804 - JP 2014500723-A/153307: Polycomb-Associated Non-Coding RNAs.
JD022893 - Sequence 3917 from Patent EP1572962.
JD029775 - Sequence 10799 from Patent EP1572962.
AK293657 - Homo sapiens cDNA FLJ54109 complete cds, weakly similar to DNA polymerase lambda (EC 2.7.7.7).
LF345807 - JP 2014500723-A/153310: Polycomb-Associated Non-Coding RNAs.
LF345808 - JP 2014500723-A/153311: Polycomb-Associated Non-Coding RNAs.
JD538151 - Sequence 519175 from Patent EP1572962.
JD114814 - Sequence 95838 from Patent EP1572962.
JD187648 - Sequence 168672 from Patent EP1572962.
JD200581 - Sequence 181605 from Patent EP1572962.
MA581376 - JP 2018138019-A/153302: Polycomb-Associated Non-Coding RNAs.
MA581377 - JP 2018138019-A/153303: Polycomb-Associated Non-Coding RNAs.
MA581378 - JP 2018138019-A/153304: Polycomb-Associated Non-Coding RNAs.
MA581380 - JP 2018138019-A/153306: Polycomb-Associated Non-Coding RNAs.
MA581381 - JP 2018138019-A/153307: Polycomb-Associated Non-Coding RNAs.
MA581384 - JP 2018138019-A/153310: Polycomb-Associated Non-Coding RNAs.
MA581385 - JP 2018138019-A/153311: Polycomb-Associated Non-Coding RNAs.
MA446926 - JP 2018138019-A/18852: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UGP5 (Reactome details) participates in the following event(s):

R-HSA-5693574 XRCC4:LIG4, NHEJ1 and POLL or POLM bind DNA DSBs in NHEJ
R-HSA-5693604 XRCC4:LIG4 ligates DNA DSB ends during NHEJ
R-HSA-5687360 POLL or POLM extends aligned DNA DSB ends to fill gaps
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
R-HSA-5693532 DNA Double-Strand Break Repair
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: D3DR76, DPOLL_HUMAN, ENST00000370162.1, ENST00000370162.2, ENST00000370162.3, ENST00000370162.4, ENST00000370162.5, ENST00000370162.6, ENST00000370162.7, NM_001174084, POLL , Q5JQP5, Q6NUM2, Q9BTN8, Q9HA10, Q9HB35, Q9UGP5, uc318idr.1, uc318idr.2
UCSC ID: ENST00000370162.8_8
RefSeq Accession: NM_001174084.2
Protein: Q9UGP5 (aka DPOLL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.