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Aliases for POLB Gene

Aliases for POLB Gene

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

External Ids for POLB Gene

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 Directed), Beta) is a Protein Coding gene. Diseases associated with POLB include werner syndrome. Among its related pathways are Chks in Checkpoint Regulation and DNA damage_Role of Brca1 and Brca2 in DNA 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

Genomic Location for POLB Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLB Gene

Regulatory Elements 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; Note=Binds 2 magnesium ions per subunit.;
    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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys41, Lys61, and Lys81

No data available for DME Specific Peptides for POLB Gene

Domains for POLB Gene

Gene Families for POLB Gene

HGNC:
  • POL :DNA polymerases

UniProtKB/Swiss-Prot:

DPOLB_HUMAN
Domain:
  • Residues 239-252 form a flexible loop which appears to affect the polymerase fidelity.:
    • P06746
Family:
  • Belongs to the DNA polymerase type-X family.:
    • P06746
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:0003677 DNA binding --
GO:0003684 damaged DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity IDA 16600869
GO:0005515 protein binding IPI 15520167
GO:0008017 microtubule binding IDA 15725623
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:

miRNA for POLB Gene

miRTarBase miRNAs that target POLB

No data available for Transcription Factor Targeting 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 3
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for POLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19713937
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 15725623
GO:0005874 microtubule IDA 15725623
GO:0005876 spindle microtubule IDA 15725623
genes like me logo Genes that share ontologies with POLB: view

Pathways 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:0006281 DNA repair TAS --
GO:0006284 base-excision repair TAS --
GO:0006287 base-excision repair, gap-filling IEA --
GO:0006290 pyrimidine dimer repair IEA --
genes like me logo Genes that share ontologies with POLB: view

Compounds for POLB Gene

(7) HMDB Compounds for POLB Gene

Compound Synonyms Cas Number PubMed IDs
dATP
  • 2'-Deoxy-5'-ATP
1927-31-7
dCTP
  • 2'-deoxycytidine-5'-triphosphate
2056-98-6
dGTP
  • 2'-Deoxyguanosine 5'-triphosphate
2564-35-4
Magnesium
  • Magnesium
7439-95-4
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2

(3) Drugbank Compounds for POLB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(1S)-1,2,3,4-TETRAHYDRO-BENZO[C]PHENANTHRENE-2,3,4-TRIOL
target
2'-Deoxyadenosine 5'-Triphosphate
1927-31-7 target
Cytarabine
  • Ara-C
147-94-4 target inhibitor

(72) Novoseek inferred chemical compound relationships for POLB Gene

Compound -log(P) Hits PubMed IDs
dideoxythymidine 82.2 6
parathion 79.9 18
ddttp 76.7 4
dctp 74.1 9
2-deoxyribonolactone 74 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 (7.5) and Brain - Cerebellum (6.2).

Integrated Proteomics: protein expression 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 expressions with POLB: view

Orthologs for POLB Gene

This gene was present in the common ancestor of chordates.

Orthologs for POLB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POLB 36
  • 99.6 (n)
  • 100 (a)
POLB 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POLB 36
  • 93.43 (n)
  • 98.21 (a)
POLB 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLB 36
  • 94.73 (n)
  • 98.81 (a)
POLB 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polb 36
  • 89.15 (n)
  • 96.42 (a)
Polb 16
Polb 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLB 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLB 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polb 36
  • 89.45 (n)
  • 95.82 (a)
chicken
(Gallus gallus)
Aves POLB 36
  • 79.6 (n)
  • 86.57 (a)
POLB 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLB 37
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia polB 36
tropical clawed frog
(Silurana tropicalis)
Amphibia polb 36
  • 75.45 (n)
  • 84.13 (a)
Str.10890 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7184 36
zebrafish
(Danio rerio)
Actinopterygii polb 36
  • 73.73 (n)
  • 80.3 (a)
polb 37
  • 79 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6306 36
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 MAF
rs2272615 -- 42,361,530(+) CGAAA(A/G)GGATA intron-variant, downstream-variant-500B
rs2307155 -- 42,338,457(+) CACAA(A/C)AAGCG utr-variant-5-prime, upstream-variant-2KB
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

Relevant External Links for POLB Gene

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

Disorders for POLB Gene

(1) MalaCards Diseases for POLB Gene

Search for POLB Gene in MalaCards »

(25) Novoseek inferred disease relationships for POLB Gene

Disease -log(P) Hits PubMed IDs
myeloblastosis 58.6 3
werner syndrome 52.4 2
immunodeficiency 31 17
familial adenomatous polyposis 17.2 2
cancer 16.5 12

Relevant External Links for POLB

Genetic Association Database (GAD)
POLB
Human Genome Epidemiology (HuGE) Navigator
POLB
genes like me logo Genes that share disorders with POLB: view

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

Publications for POLB Gene

  1. A structural basis for metal ion mutagenicity and nucleotide selectivity in human DNA polymerase beta. (PMID: 8841119) Pelletier H. … Kraut J. (Biochemistry 1996) 3 4 23
  2. 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
  3. Population-specific variation in haplotype composition and heterozygosity at the POLB locus. (PMID: 19167932) Yamtich J. … Kidd K.K. (DNA Repair (Amst.) 2009) 3 23 49
  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 49
  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 POLB Gene

  • Addgene plasmids for POLB

Sources for POLB Gene

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