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Aliases for POLL Gene

Aliases for POLL Gene

  • DNA Polymerase Lambda 2 3 5
  • Polymerase (DNA Directed), Lambda 2 3
  • Polymerase (DNA) Lambda 2 3
  • DNA Polymerase Beta-2 3 4
  • DNA Polymerase Kappa 3 4
  • DNA Polymerase Beta-N 3
  • EC 4.2.99.- 4
  • Pol Lambda 4
  • EC 2.7.7.7 4
  • Pol Beta2 4
  • POLKAPPA 3
  • BETAN 3

External Ids for POLL Gene

Previous GeneCards Identifiers for POLL Gene

  • GC10M102231
  • GC10M102572
  • GC10M103469
  • GC10M103003
  • GC10M103328
  • GC10M096969

Summaries for POLL Gene

Entrez Gene Summary for POLL Gene

  • This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]

GeneCards Summary for POLL Gene

POLL (DNA Polymerase Lambda) is a Protein Coding gene. Diseases associated with POLL include Histrionic Personality Disorder and Primary Ciliary Dyskinesia. Among its related pathways are DNA Double-Strand Break Repair and DNA Double Strand Break Response. GO annotations related to this gene include lyase activity and DNA polymerase activity. An important paralog of this gene is DNTT.

UniProtKB/Swiss-Prot for POLL Gene

  • DNA polymerase that functions in several pathways of DNA repair (PubMed:11457865, PubMed:19806195, PubMed:20693240). Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA (PubMed:11457865, PubMed:19806195). Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination (PubMed:19806195, PubMed:20693240). Has both template-dependent and template-independent (terminal transferase) DNA polymerase activities (PubMed:10982892, PubMed:10887191, PubMed:12809503, PubMed:14627824, PubMed:15537631, PubMed:19806195). Has also a 5-deoxyribose-5-phosphate lyase (dRP lyase) activity (PubMed:11457865, PubMed:19806195).

Gene Wiki entry for POLL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLL Gene

Genomics for POLL Gene

Regulatory Elements for POLL Gene

Enhancers for POLL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G101485 2.5 VISTA Ensembl ENCODE 9.9 +102.2 102217 1.6 PKNOX1 ARNT MLX ARID4B FEZF1 ZNF2 YY1 ZNF121 ZNF143 ZNF263 RNU2-43P DPCD TLX1 POLL KCNIP2-AS1 MFSD13A GC10P101487 GC10M101454
GH10G101330 1.8 FANTOM5 ENCODE 9.2 +257.1 257148 0.4 SOX13 GATAD2A NCOR1 BTRC RNU2-43P RNU2-59P DPCD POLL PDZD7 MGEA5 GC10P101339 ENSG00000230967
GH10G102009 1.4 Ensembl ENCODE dbSUPER 9 -421.7 -421731 0.4 ELF3 TBL1XR1 WRNIP1 ARID4B ZNF2 ZSCAN9 RAD21 RFX5 SLC30A9 SCRT2 KCNIP2 C10orf76 HPS6 KCNIP2-AS1 MGEA5 FGF8 POLL DPCD ENSG00000222430
GH10G101189 1 FANTOM5 ENCODE 10 +398.5 398484 1.2 MAFG FEZF1 RBBP5 ETS1 ZNF121 ZNF316 HDAC2 GLIS1 NFE2L1 NFE2 TLX1 RNU2-43P POLL DPCD LINC01514 BLOC1S2 SMARCE1P7 GC10M101227
GH10G101616 0.8 ENCODE 11.1 -29.2 -29238 1.2 BCOR HDGF CTCF ESRRA MXI1 WRNIP1 SIN3A ZMYM3 MAX ZFHX2 DPCD POLL FGF8 BTRC RNU6-1165P MIR3158-2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLL on UCSC Golden Path with GeneCards custom track

Promoters for POLL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032627 170 1401 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ETS1 GLIS2

Genomic Location for POLL Gene

Chromosome:
10
Start:
101,578,882 bp from pter
End:
101,588,270 bp from pter
Size:
9,389 bases
Orientation:
Minus strand

Genomic View for POLL Gene

Genes around POLL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLL Gene

Proteins for POLL Gene

  • Protein details for POLL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGP5-DPOLL_HUMAN
    Recommended name:
    DNA polymerase lambda
    Protein Accession:
    Q9UGP5
    Secondary Accessions:
    • D3DR76
    • Q5JQP5
    • Q6NUM2
    • Q9BTN8
    • Q9HA10
    • Q9HB35

    Protein attributes for POLL Gene

    Size:
    575 amino acids
    Molecular mass:
    63482 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Binds PCNA.
    SequenceCaution:
    • Sequence=BAB14050.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POLL Gene

    Alternative splice isoforms for POLL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLL Gene

Post-translational modifications for POLL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for POLL Gene

Domains & Families for POLL Gene

Gene Families for POLL Gene

Graphical View of Domain Structure for InterPro Entry

Q9UGP5

UniProtKB/Swiss-Prot:

DPOLL_HUMAN :
  • Belongs to the DNA polymerase type-X family.
Family:
  • Belongs to the DNA polymerase type-X family.
genes like me logo Genes that share domains with POLL: view

Function for POLL Gene

Molecular function for POLL Gene

GENATLAS Biochemistry:
polymerase (DNA-directed), lambda
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot Function:
DNA polymerase that functions in several pathways of DNA repair (PubMed:11457865, PubMed:19806195, PubMed:20693240). Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA (PubMed:11457865, PubMed:19806195). Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination (PubMed:19806195, PubMed:20693240). Has both template-dependent and template-independent (terminal transferase) DNA polymerase activities (PubMed:10982892, PubMed:10887191, PubMed:12809503, PubMed:14627824, PubMed:15537631, PubMed:19806195). Has also a 5-deoxyribose-5-phosphate lyase (dRP lyase) activity (PubMed:11457865, PubMed:19806195).

Enzyme Numbers (IUBMB) for POLL Gene

Gene Ontology (GO) - Molecular Function for POLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 10982892
GO:0003887 DNA-directed DNA polymerase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with POLL: view
genes like me logo Genes that share phenotypes with POLL: view

Animal Models for POLL Gene

MGI Knock Outs for POLL:

Animal Model Products

  • Taconic Biosciences Mouse Models for POLL

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POLL Gene

Localization for POLL Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLL gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for POLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 10982892
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with POLL: view

Pathways & Interactions for POLL Gene

genes like me logo Genes that share pathways with POLL: view

Pathways by source for POLL Gene

Gene Ontology (GO) - Biological Process for POLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IMP 20693240
GO:0006260 DNA replication NAS 10982892
GO:0006281 DNA repair IEA --
GO:0006287 base-excision repair, gap-filling IDA 19806195
GO:0006289 nucleotide-excision repair IDA 10982892
genes like me logo Genes that share ontologies with POLL: view

No data available for SIGNOR curated interactions for POLL Gene

Drugs & Compounds for POLL Gene

(7) Drugs for POLL Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clofarabine Approved, Investigational Pharma Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 159
Phosphoric acid Approved Pharma 0
Manganese Approved Nutra 34
dctp Experimental Pharma 0
Deoxyadenosine triphosphate Experimental Pharma 0

(4) Additional Compounds for POLL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2

(1) ApexBio Compounds for POLL Gene

Compound Action Cas Number
Clofarabine Antimetabolite,inhibit DNA polymerase and ribonucleotide reductase 123318-82-1
genes like me logo Genes that share compounds with POLL: view

Drug Products

Transcripts for POLL Gene

Unigene Clusters for POLL Gene

Polymerase (DNA directed), lambda:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLL Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c · 7d ·
SP1: - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - -
SP4: - -
SP5: -
SP6: - - - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - - - - - -
SP11: -
SP12:
SP13:
SP14: - - - - - - - - - - -
SP15: - - - - - - - -
SP16: - - - - - - - - -
SP17: - - - - - - - - - - - - - - -
SP18: - - - - - - - -
SP19: - - - - - - - - - - - -
SP20: - - - - - - - - - - - - - - - - -
SP21: - - - - - - - - - - - -
SP22: - - -
SP23: - - - -
SP24: - - - - - - - - - - - - - - - -
SP25: - - - - - - - - - - - -
SP26: - - - - - -
SP27: - - - - - - - - - - - -
SP28: - - - - - - - - - - - - -
SP29: - - - - - - -
SP30: - - -
SP31: - - - - -
SP32: - - - - - - - - - - - - -
SP33: - - - -
SP34:
SP35:
SP36:
SP37: - - - - - - - - - -

ExUns: 7e · 7f ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c · 12d · 12e · 12f ^ 13a · 13b · 13c · 13d · 13e · 13f · 13g
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - - - - - -
SP9: - - - - - - -
SP10: - - - - - - - - - - - -
SP11: -
SP12: - - - - - - - -
SP13: - - - -
SP14:
SP15:
SP16:
SP17: - - - - - - - - -
SP18:
SP19: -
SP20: - - - - - - - - - -
SP21: -
SP22:
SP23: - - - - - - - - -
SP24: - -
SP25:
SP26:
SP27: - - - - - - - - -
SP28: - - - - - - - - -
SP29:
SP30:
SP31:
SP32: - -
SP33: - -
SP34: - - - -
SP35: - - -
SP36:
SP37: - - - - - - - - - - - - -

Relevant External Links for POLL Gene

GeneLoc Exon Structure for
POLL
ECgene alternative splicing isoforms for
POLL

Expression for POLL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POLL Gene

Protein differential expression in normal tissues from HIPED for POLL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (58.8) and Ovary (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POLL Gene



Protein tissue co-expression partners for POLL Gene

NURSA nuclear receptor signaling pathways regulating expression of POLL Gene:

POLL

SOURCE GeneReport for Unigene cluster for POLL Gene:

Hs.523230

mRNA Expression by UniProt/SwissProt for POLL Gene:

Q9UGP5-DPOLL_HUMAN
Tissue specificity: Expressed in a number of tissues. Abundant in testis.

Evidence on tissue expression from TISSUES for POLL Gene

  • Lung(4.4)
  • Nervous system(4.4)
  • Lymph node(4.2)
  • Intestine(2.2)
  • Blood(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with POLL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLL Gene

Orthologs for POLL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLL 34 35
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia POLL 34 35
  • 86.72 (n)
dog
(Canis familiaris)
Mammalia POLL 34 35
  • 86.61 (n)
rat
(Rattus norvegicus)
Mammalia Poll 34
  • 84.7 (n)
mouse
(Mus musculus)
Mammalia Poll 34 16 35
  • 84.12 (n)
oppossum
(Monodelphis domestica)
Mammalia POLL 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLL 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLL 34 35
  • 68.58 (n)
lizard
(Anolis carolinensis)
Reptilia POLL 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia poll 34
  • 62.11 (n)
Str.3820 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6067 34
zebrafish
(Danio rerio)
Actinopterygii poll 34
  • 58.41 (n)
ved 35
  • 3 (a)
OneToOne
wufe49a04 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3101 34
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL4 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G10520 34
  • 48.27 (n)
rice
(Oryza sativa)
Liliopsida Os06g0237200 34
  • 45.96 (n)
Species where no ortholog for POLL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POLL Gene

ENSEMBL:
Gene Tree for POLL (if available)
TreeFam:
Gene Tree for POLL (if available)

Paralogs for POLL Gene

Paralogs for POLL Gene

genes like me logo Genes that share paralogs with POLL: view

Variants for POLL Gene

Sequence variations from dbSNP and Humsavar for POLL Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs386352299 Uncertain significance 101,588,347(+) GGTGA(C/T)GGGCT upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1000354698 -- 101,586,782(+) GAGCC(A/C)CCGCG intron-variant, upstream-variant-2KB
rs1000400356 -- 101,580,204(+) ACCTG(C/T)GCTGC intron-variant
rs1000599171 -- 101,585,794(+) TTTTT(A/C)ATAAT intron-variant
rs1000630474 -- 101,586,108(+) GGGCT(C/T)GTCCA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for POLL Gene

Variant ID Type Subtype PubMed ID
dgv964n100 CNV gain 25217958
esv2750847 CNV gain 17911159
esv2760144 CNV gain 21179565
esv3624382 CNV gain 21293372
nsv1053934 CNV gain 25217958
nsv526529 CNV loss 19592680
nsv527185 CNV loss 19592680
nsv552056 CNV gain 21841781

Variation tolerance for POLL Gene

Residual Variation Intolerance Score: 63.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.60; 72.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLL Gene

Human Gene Mutation Database (HGMD)
POLL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLL Gene

Disorders for POLL Gene

MalaCards: The human disease database

(3) MalaCards diseases for POLL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
histrionic personality disorder
primary ciliary dyskinesia
  • ciliary motility disorder
patent foramen ovale
  • atrial septal defect within oval fossa
- elite association - COSMIC cancer census association via MalaCards
Search POLL in MalaCards View complete list of genes associated with diseases

Relevant External Links for POLL

Genetic Association Database (GAD)
POLL
Human Genome Epidemiology (HuGE) Navigator
POLL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLL
genes like me logo Genes that share disorders with POLL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLL Gene

Publications for POLL Gene

  1. Characterization of a natural mutator variant of human DNA polymerase lambda which promotes chromosomal instability by compromising NHEJ. (PMID: 19806195) Terrados G. … Blanco L. (PLoS ONE 2009) 3 4 22 64
  2. Human DNA polymerase lambda is a proficient extender of primer ends paired to 7,8-dihydro-8-oxoguanine. (PMID: 17686665) Picher A.J. … Blanco L. (DNA Repair (Amst.) 2007) 2 3 22 64
  3. DNA elongation by the human DNA polymerase lambda polymerase and terminal transferase activities are differentially coordinated by proliferating cell nuclear antigen and replication protein A. (PMID: 15537631) Maga G. … Hubscher U. (J. Biol. Chem. 2005) 3 4 22 64
  4. A structural solution for the DNA polymerase lambda-dependent repair of DNA gaps with minimal homology. (PMID: 14992725) Garcia-Diaz M. … Pedersen L.C. (Mol. Cell 2004) 3 4 22 64
  5. The human DNA polymerase lambda interacts with PCNA through a domain important for DNA primer binding and the interaction is inhibited by p21/WAF1/CIP1. (PMID: 15358682) Maga G. … Huebscher U. (FASEB J. 2004) 3 4 22 64

Products for POLL Gene

Sources for POLL Gene

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