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Aliases for POLB Gene

Aliases for POLB Gene

  • Polymerase (DNA) Beta 2 3
  • Polymerase (DNA Directed), Beta 2 5
  • EC 4.2.99.- 4
  • EC 2.7.7.7 4

External Ids for POLB Gene

Previous GeneCards Identifiers for POLB Gene

  • GC08M041722
  • GC08P042220
  • GC08P041936
  • GC08P042213
  • GC08P040719
  • GC08P042195

Summaries for POLB Gene

Entrez Gene Summary for POLB Gene

  • The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]

GeneCards Summary for POLB Gene

POLB (Polymerase (DNA) Beta) is a Protein Coding gene. Diseases associated with POLB include werner syndrome and critical illness polyneuropathy. Among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and DNA Double-Strand Break Repair. GO annotations related to this gene include enzyme binding and damaged DNA binding. An important paralog of this gene is POLL.

UniProtKB/Swiss-Prot for POLB Gene

  • Repair polymerase that plays a key role in base-excision repair. Has 5-deoxyribose-5-phosphate lyase (dRP lyase) activity that removes the 5 sugar phosphate and also acts as a DNA polymerase that adds one nucleotide to the 3 end of the arising single-nucleotide gap. Conducts gap-filling DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases.

Gene Wiki entry for POLB Gene

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

Genomics for POLB Gene

Regulatory Elements for POLB Gene

Promoters for POLB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POLB on UCSC Golden Path with GeneCards custom track

Genomic Location for POLB Gene

Chromosome:
8
Start:
42,338,454 bp from pter
End:
42,371,813 bp from pter
Size:
33,360 bases
Orientation:
Plus strand

Genomic View for POLB Gene

Genes around POLB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for POLB Gene

Proteins for POLB Gene

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

    Protein Symbol:
    P06746-DPOLB_HUMAN
    Recommended name:
    DNA polymerase beta
    Protein Accession:
    P06746
    Secondary Accessions:
    • B2RC78
    • Q3KP48
    • Q6FI34

    Protein attributes for POLB Gene

    Size:
    335 amino acids
    Molecular mass:
    38178 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer. Interacts with APEX1, HUWE1/ARF-BP1, STUB1/CHIP and USP47.

    Three dimensional structures from OCA and Proteopedia for POLB Gene

neXtProt entry for POLB Gene

Proteomics data for POLB Gene at MOPED

Post-translational modifications for POLB Gene

  • Methylation by PRMT6 stimulates the polymerase activity by enhancing DNA binding and processivity.
  • Ubiquitinated at Lys-41, Lys-61 and Lys-81: monoubiquitinated by HUWE1/ARF-BP1. Monoubiquitinated protein is then the target of STUB1/CHIP, which catalyzes polyubiquitination from monoubiquitin, leading to degradation by the proteasome. USP47 mediates the deubiquitination of monoubiquitinated protein, preventing polyubiquitination by STUB1/CHIP and its subsequent degradation.
  • Ubiquitination at Lys 41, Lys 61, and Lys 81
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for POLB Gene

Domains & Families for POLB Gene

Gene Families for POLB Gene

Suggested Antigen Peptide Sequences for POLB Gene

Graphical View of Domain Structure for InterPro Entry

P06746

UniProtKB/Swiss-Prot:

DPOLB_HUMAN :
  • Residues 239-252 form a flexible loop which appears to affect the polymerase fidelity.
  • Belongs to the DNA polymerase type-X family.
Domain:
  • Residues 239-252 form a flexible loop which appears to affect the polymerase fidelity.
Family:
  • Belongs to the DNA polymerase type-X family.
genes like me logo Genes that share domains with POLB: view

Function for POLB Gene

Molecular function for POLB Gene

GENATLAS Biochemistry:
polymerase (DNA directed),beta,39kDa,highly expressed (rat) in testis may be involved in DNA repair and in meiosis,not involved in DNA replication
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot Function:
Repair polymerase that plays a key role in base-excision repair. Has 5-deoxyribose-5-phosphate lyase (dRP lyase) activity that removes the 5 sugar phosphate and also acts as a DNA polymerase that adds one nucleotide to the 3 end of the arising single-nucleotide gap. Conducts gap-filling DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases.

Enzyme Numbers (IUBMB) for POLB Gene

Gene Ontology (GO) - Molecular Function for POLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity TAS --
GO:0016779 nucleotidyltransferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with POLB: view
genes like me logo Genes that share phenotypes with POLB: view

Animal Models for POLB Gene

MGI Knock Outs for POLB:

Animal Model Products

miRNA for POLB Gene

miRTarBase miRNAs that target POLB

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

Localization for POLB Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLB Gene

Nucleus. Cytoplasm. Note=Cytoplasmic in normal conditions. Translocates to the nucleus following DNA damage.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLB Gene COMPARTMENTS Subcellular localization image for POLB gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for POLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 15725623
GO:0005876 spindle microtubule IDA 15725623
genes like me logo Genes that share ontologies with POLB: view

Pathways & Interactions for POLB Gene

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

Gene Ontology (GO) - Biological Process for POLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006261 DNA-dependent DNA replication TAS 8168825
GO:0006287 base-excision repair, gap-filling IEA --
GO:0006288 base-excision repair, DNA ligation TAS --
GO:0006290 pyrimidine dimer repair IEA --
GO:0006297 NOT nucleotide-excision repair, DNA gap filling IMP 20227374
genes like me logo Genes that share ontologies with POLB: view

No data available for SIGNOR curated interactions for POLB Gene

Drugs & Compounds for POLB Gene

(34) Drugs for POLB Gene - From: Novoseek, HMDB, DGIdb, DrugBank, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytarabine Approved, Investigational Pharma inhibitor, Target 1035
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 1885
Deoxyadenosine triphosphate Experimental Pharma Target 0
dctp Experimental Pharma 0
Diphosphate Experimental Pharma 0

(46) Additional Compounds for POLB 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

(2) ApexBio Compounds for POLB Gene

Compound Action Cas Number
Carboplatin Antitumor agent that forms platinum-DNA adducts. 41575-94-4
Vitamin D2 (Ergocalciferol) DNA Polymerase inhibitor 50-14-6
genes like me logo Genes that share compounds with POLB: view

Transcripts for POLB Gene

Unigene Clusters for POLB Gene

Polymerase (DNA directed), beta:
Representative Sequences:

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15
SP1: - - - -
SP2: - -
SP3: - - - -
SP4: - - -
SP5: -
SP6:
SP7:

Relevant External Links for POLB Gene

GeneLoc Exon Structure for
POLB
ECgene alternative splicing isoforms for
POLB

Expression for POLB Gene

mRNA expression in normal human tissues for POLB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POLB Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.5) and Brain - Cerebellum (x6.2).

Protein differential expression in normal tissues from HIPED for POLB Gene

This gene is overexpressed in CD4 Tcells (7.5) and Testis (6.6).

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



SOURCE GeneReport for Unigene cluster for POLB Gene Hs.654484

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

Protein tissue co-expression partners for POLB Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for POLB Gene

Orthologs for POLB Gene

This gene was present in the common ancestor of chordates.

Orthologs for POLB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POLB 35
  • 93.43 (n)
  • 98.21 (a)
POLB 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLB 35
  • 94.73 (n)
  • 98.81 (a)
POLB 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polb 35
  • 89.15 (n)
  • 96.42 (a)
Polb 16
Polb 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLB 35
  • 99.6 (n)
  • 100 (a)
POLB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polb 35
  • 89.45 (n)
  • 95.82 (a)
oppossum
(Monodelphis domestica)
Mammalia POLB 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLB 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLB 35
  • 79.6 (n)
  • 86.57 (a)
POLB 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLB 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia polb 35
  • 75.45 (n)
  • 84.13 (a)
Str.10890 35
African clawed frog
(Xenopus laevis)
Amphibia polB 35
zebrafish
(Danio rerio)
Actinopterygii polb 35
  • 73.73 (n)
  • 80.3 (a)
polb 36
  • 79 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7184 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6306 35
Species with no ortholog for POLB:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POLB Gene

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

Paralogs for POLB Gene

Paralogs for POLB Gene

Pseudogenes.org Pseudogenes for POLB Gene

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

Variants for POLB Gene

Sequence variations from dbSNP and Humsavar for POLB Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs3136797 - 42,369,287(+) GCTTC(C/G)CAGTA reference, missense
rs2307155 -- 42,338,457(+) CACAA(A/C)AAGCG upstream-variant-2KB, utr-variant-5-prime
rs2307156 -- 42,355,608(+) TAAAA(C/G)TAAAT intron-variant
rs2307157 -- 42,369,371(+) AACTT(C/T)TCCAA intron-variant
rs2307158 -- 42,338,429(+) GCCCC(G/T)CCCCG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv831301 CNV Loss 17160897
nsv508508 CNV Loss 20534489
nsv6169 CNV Loss 18451855
nsv397871 CNV Insertion 16902084
esv2661547 CNV Deletion 23128226

Variation tolerance for POLB Gene

Residual Variation Intolerance Score: 52.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLB Gene

HapMap Linkage Disequilibrium report
POLB
Human Gene Mutation Database (HGMD)
POLB

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

Disorders for POLB Gene

MalaCards: The human disease database

(5) MalaCards diseases for POLB Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
werner syndrome
  • adult premature ageing syndrome
critical illness polyneuropathy
  • polyneuropathy, critical illness
acoustic neuroma
  • vestibular neurilemmoma
inflammatory and toxic neuropathy
esophageal cancer
  • esophageal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search POLB in MalaCards View complete list of genes associated with diseases

Relevant External Links for POLB

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

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

Publications for POLB Gene

  1. Covalent trapping of human DNA polymerase beta by the oxidative DNA lesion 2-deoxyribonolactone. (PMID: 11805079) DeMott M.S. … Demple B. (J. Biol. Chem. 2002) 3 4 23 67
  2. Cells deficient in the base excision repair protein, DNA polymerase beta, are hypersensitive to oxaliplatin chemotherapy. (PMID: 19838217) Yang J. … Sharma R.A. (Oncogene 2010) 3 23
  3. DNA polymerases beta and lambda bypass thymine glycol in gapped DNA structures. (PMID: 20423048) Belousova E.A. … Lavrik O.I. (Biochemistry 2010) 3 23
  4. Characterization of DNA polymerase beta splicing variants in gastric cancer: the most frequent exon 2-deleted isoform is a non-coding RNA. (PMID: 19635489) Simonelli V. … Dogliotti E. (Mutat. Res. 2009) 3 23
  5. Chromatin-associated proteins HMGB1/2 and PDIA3 trigger cellular response to chemotherapy-induced DNA damage. (PMID: 19372559) Krynetskaia N.F. … Krynetskiy E.Y. (Mol. Cancer Ther. 2009) 25 26

Products for POLB Gene

Sources for POLB Gene

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