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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 Split-Hand/Foot Malformation 3. Among its related pathways are DNA Double-Strand Break Repair and Telomere C-strand (Lagging Strand) Synthesis. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for POLL Gene

Promoters and enhancers for POLL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I101586 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 231 2.4 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 E2F8 ZNF143 POLL DPCD GC10P101487
GH10I100909 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 18 +676.3 676305 4.8 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ENSG00000272572 SLF2 MRPL43 TWNK CWF19L1 CHUK POLL PHBP9 SEMA4G MIR608
GH10I101030 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 +555.0 555023 6.4 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 FOS PDZD7 SFXN3 MRPL43 TWNK KAZALD1 TLX1 TLX1NB SEMA4G ENSG00000236662 MIR608
GH10I102501 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10 -915.1 -915119 4.6 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ACTR1A SUFU MFSD13A PDCD11 TAF5 PPRC1 PCGF6 RNU6-43P C10orf95 FBXL15
GH10I102150 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.7 -564.1 -564111 3.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B NOLC1 HPS6 PPRC1 LDB1 GBF1 POLL ELOVL3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POLL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POLL gene promoter:

Genomic Locations for POLL Gene

Genomic Locations for POLL Gene
chr10:101,578,882-101,588,270
(GRCh38/hg38)
Size:
9,389 bases
Orientation:
Minus strand
chr10:103,338,639-103,348,027
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for POLL Gene

Domains & Families for POLL Gene

Gene Families for POLL Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

Phenotypes From GWAS Catalog 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

miRNA for POLL Gene

miRTarBase miRNAs that target POLL

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (4)
  • Golgi apparatus (3)
See all subcellular structures

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 161
Phosphoric acid Approved Pharma 0
Manganese Approved Nutra 37
dATP Experimental Pharma Full agonist, Agonist 0
dctp 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:

Clone 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

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 33 34
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia POLL 33 34
  • 86.72 (n)
dog
(Canis familiaris)
Mammalia POLL 33 34
  • 86.61 (n)
rat
(Rattus norvegicus)
Mammalia Poll 33
  • 84.7 (n)
mouse
(Mus musculus)
Mammalia Poll 33 16 34
  • 84.12 (n)
oppossum
(Monodelphis domestica)
Mammalia POLL 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLL 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLL 33 34
  • 68.58 (n)
lizard
(Anolis carolinensis)
Reptilia POLL 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia poll 33
  • 62.11 (n)
Str.3820 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6067 33
zebrafish
(Danio rerio)
Actinopterygii poll 33
  • 58.41 (n)
ved 34
  • 3 (a)
OneToOne
wufe49a04 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3101 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL4 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G10520 33
  • 48.27 (n)
rice
(Oryza sativa)
Liliopsida Os06g0237200 33
  • 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 Variation AA Info Type
rs386352299 uncertain-significance, not provided 101,588,347(-) C/T upstream_transcript_variant
rs1000354698 -- 101,586,782(-) A/C intron_variant
rs1000400356 -- 101,580,204(-) T/C intron_variant
rs1000599171 -- 101,585,794(-) A/C intron_variant
rs1000630474 -- 101,586,108(-) C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant

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

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

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)

Additional Variant Information 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

(6) MalaCards diseases for POLL Gene - From: HGMD, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search POLL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for POLL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Human DNA polymerase lambda is a proficient extender of primer ends paired to 7,8-dihydro-8-oxoguanine. (PMID: 17686665) Picher AJ … Blanco L (DNA repair 2007) 2 3 22 58
  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 … Hübscher U (The Journal of biological chemistry 2005) 3 4 22 58
  4. 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 … Hübscher U (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004) 3 4 22 58
  5. A structural solution for the DNA polymerase lambda-dependent repair of DNA gaps with minimal homology. (PMID: 14992725) Garcia-Diaz M … Pedersen LC (Molecular cell 2004) 3 4 22 58

Products for POLL Gene