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Aliases for POLL Gene

Aliases for POLL Gene

  • Polymerase (DNA) Lambda 2 3
  • Polymerase (DNA Directed), Lambda 2 3 5
  • 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 (Polymerase (DNA) Lambda) is a Protein Coding gene. Diseases associated with POLL include Histrionic Personality Disorder and Patent Foramen Ovale. 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 POLB.

UniProtKB/Swiss-Prot for POLL Gene

  • 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.

Gene Wiki entry for POLL Gene

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around POLL on UCSC Golden Path with GeneCards custom track

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

Proteomics data for POLL Gene at MOPED

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 :
  • Contains 1 BRCT domain.
  • Belongs to the DNA polymerase type-X family.
Domain:
  • Contains 1 BRCT domain.
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:
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.

Enzyme Numbers (IUBMB) for POLL Gene

Gene Ontology (GO) - Molecular Function for POLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016779 nucleotidyltransferase activity IEA --
GO:0016829 lyase activity IEA --
GO:0034061 DNA polymerase 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

Flow Cytometry 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
Jensen Localization Image for POLL Gene COMPARTMENTS Subcellular localization image for POLL gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1
extracellular 1
lysosome 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for POLL Gene

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:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0016446 somatic hypermutation of immunoglobulin genes NAS 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 154
dctp Experimental Pharma 0
Deoxyadenosine triphosphate Experimental Pharma 0
dgtp Experimental Pharma 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
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

Transcripts for POLL Gene

Unigene Clusters for POLL Gene

Polymerase (DNA directed), lambda:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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, MOPED, and MaxQB for POLL Gene



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.
genes like me logo Genes that share expression patterns with POLL: view

Protein tissue co-expression partners for POLL Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia POLL 35
  • 86.72 (n)
  • 85.04 (a)
POLL 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLL 35
  • 86.61 (n)
  • 85.57 (a)
POLL 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Poll 35
  • 84.12 (n)
  • 82.55 (a)
Poll 16
Poll 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLL 35
  • 99.42 (n)
  • 99.13 (a)
POLL 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Poll 35
  • 84.7 (n)
  • 82.55 (a)
oppossum
(Monodelphis domestica)
Mammalia POLL 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLL 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLL 35
  • 68.58 (n)
  • 66.96 (a)
POLL 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLL 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia poll 35
  • 62.11 (n)
  • 61.23 (a)
Str.3820 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.6067 35
zebrafish
(Danio rerio)
Actinopterygii poll 35
  • 58.41 (n)
  • 58.53 (a)
wufe49a04 35
ved 36
  • 3 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3101 35
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G10520 35
  • 48.27 (n)
  • 39.63 (a)
rice
(Oryza sativa)
Liliopsida Os06g0237200 35
  • 45.96 (n)
  • 34.27 (a)
Species with no ortholog for POLL:
  • 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
rs3730463 - 101,584,832(-) ACCCC(A/C)CCTCC intron-variant, nc-transcript-variant, reference, missense
rs3730477 - 101,580,299(-) ATGGC(C/T)GGTCC nc-transcript-variant, reference, missense
rs1549067 -- 101,581,161(+) ACTGA(A/G)AATTC intron-variant
rs3095795 -- 101,580,692(+) TGCCC(C/T)GTGGA intron-variant
rs3095796 -- 101,583,757(+) AGCTG(A/G)CTCCT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2750847 CNV Gain 17911159
nsv895967 CNV Gain 21882294
nsv526529 CNV Loss 19592680
nsv527185 CNV Loss 19592680

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

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
patent foramen ovale
  • atrial septal defect within oval fossa
primary ciliary dyskinesia
  • kartagener syndrome
- 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. 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 23 67
  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 23
  3. A novel mechanism of sugar selection utilized by a human X-family DNA polymerase. (PMID: 19900463) Brown J.A. … Suo Z. (J. Mol. Biol. 2010) 3 23
  4. Interaction between DNA Polymerase lambda and anticancer nucleoside analogs. (PMID: 20348107) Garcia-Diaz M. … Chou K.M. (J. Biol. Chem. 2010) 3 23
  5. DNA polymerases beta and lambda bypass thymine glycol in gapped DNA structures. (PMID: 20423048) Belousova E.A. … Lavrik O.I. (Biochemistry 2010) 3 23

Products for POLL Gene

Sources for POLL Gene

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