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Tbio DNA-directed DNA/RNA polymerase mu

Gap-filling polymerase involved in repair of DNA double-strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination.

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Property Summary

NCBI Gene PubMed Count 29
PubMed Score 199.26
PubTator Score 65.93

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (1)

Disease Target Count Z-score Confidence
Cancer 2346 3.331 1.7

Expression

Synonym

Accession Q9NP87 D3DVK4 Q6P5X8 Q86WQ9 Pol Mu
Symbols Tdt-N
Pol Mu

Gene

POLM

PANTHER Protein Class (3)

PDB

2DUN   2HTF   4LZD   4LZG   4M04   4M0A   4YCX   4YD1   4YD2  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (15)

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 GO Function (3)

 GO Component (1)

 GO Process (4)

 Compartment GO Term (25)

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 MGI Phenotype (2)

 HCA RNA Cell Line (56)

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Pathway (6)

Protein-protein Interaction (8)

XRCC6   XRCC5   PRKDC   XRCC4   DCLRE1C   NHEJ1   ACAD8   CTU2  

Gene RIF (23)

PMID Text
26240373 analysis of template-dependent synthesis by human polymerase mu
24878922 A study of how Polmu fixes and/or orients the mobile Loop1 part of the protein in accordance with the substrate on which it is polymerizing.
24487959 specific loop 1 residues contribute to Pol mu's unique ability to catalyze template-dependent NHEJ of DSBs with unpaired 3' ends
23935073 A specific N-terminal extension of the 8 kDa domain of DNA polymerase mu is potentially implicated in the maintenance of a closed conformation throughout the catalytic cycle, and this study indicated that it could be a target of Cdk phosphorylation.
23933132 evidence suggests that Polmu could be regulated in vivo by phosphorylation of the BRCT domain (Ser12/Thr21) and of Ser372, affecting the function of loop1; Polmu's most distinctive activities would be turned off at specific cell-cycle phases (S and G2), when these functions might be harmful to the cell
23275568 A physiological concentration of Mn(2+) ions did benefit Polmicro-mediated non-homologous end joining by improving the efficiency and accuracy of nucleotide insertion.
23143108 The study points at human Polmicro residues His(329) and Arg(387) as responsible for regulating nucleotide expansions occurring during DNA repair transactions, either promoting or blocking, respectively, iterative polymerization.
23034807 The results uncovered a new DNA-binding function for the BRCT domain of Polmicro and demonstrated the importance of several residues located at the primer-binding region, for both DNA-binding and polymerization activities.
22897684 Pol mu binds to DNA through its amino-terminal and pol beta-like regions.
19805281 Studies shed light on the mechanism by which a rate-limited terminal transferase activity in Polmu could regulate the balance between accuracy and necessary efficiency, providing some variability during NHEJ.
19237606 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
16963491 When the terminal deoxynucleotidyl transferase (TdT) loop1 was deleted, human Polmu lacked TdT activity but improved DNA-binding and DNA template-dependent polymerization.
16061182 Pol mu promotes accuracy during Ig kappa recombination.
15520469 Overexpression of DNA polymerase mu in a Burkitt's lymphoma cell line induced an increase in somatic mutations specifically targeted to G/C residues in immunoglobulin variable genes.
15504045 DNA polymerase mu has been overexpressed, purified, and its fidelity estimated for incorporation of both deoxynucleotides and ribonucleotides based on pre-steady-state kinetic data under single-turnover conditions.
15199127 Poliota incorporates a C opposite the gamma-HOPdG adduct with nearly the same efficiency as opposite a nonadducted G residue. The subsequent extension step is performed by Polkappa, which efficiently extends from the C incorporated opposite the adduct.
14581466 human DNA polymerase mu has a template-dependent, sequence-independent nucleotidyl transferase activity
12640116 Pol mu's substrate specificity is similar to that of pol beta in most respects but has an approximately 1,000-fold-reduced ability to discriminate against ribonucleotides compared to pol beta
12368208 expression in B-cell non-Hodgkin's lymphomas
12228225 DNA polymerase mu acts in response to several types of DNA damage with a lesion bypass mechanism
12077346 Association of DNA polymerase mu (pol mu) with Ku and ligase IV: role for pol mu in end-joining double-strand break repair.
11974916 role in DNA repair
11972346 DNA polymerase mu performs DNA synthesis at a AAF lesion

AA Sequence 

MLPKRRRARVGSPSGDAASSTPPSTRFPGVAIYLVEPRMGRSRRAFLTGLARSKGFRVLDACSSEATHVV      1 - 70
MEETSAEEAVSWQERRMAAAPPGCTPPALLDISWLTESLGAGQPVPVECRHRLEVAGPRKGPLSPAWMPA     71 - 140
YACQRPTPLTHHNTGLSEALEILAEAAGFEGSEGRLLTFCRAASVLKALPSPVTTLSQLQGLPHFGEHSS    141 - 210
RVVQELLEHGVCEEVERVRRSERYQTMKLFTQIFGVGVKTADRWYREGLRTLDDLREQPQKLTQQQKAGL    211 - 280
QHHQDLSTPVLRSDVDALQQVVEEAVGQALPGATVTLTGGFRRGKLQGHDVDFLITHPKEGQEAGLLPRV    281 - 350
MCRLQDQGLILYHQHQHSCCESPTRLAQQSHMDAFERSFCIFRLPQPPGAAVGGSTRPCPSWKAVRVDLV    351 - 420
VAPVSQFPFALLGWTGSKLFQRELRRFSRKEKGLWLNSHGLFDPEQKTFFQAASEEDIFRHLGLEYLPPE    421 - 490
QRNA                                                                      491 - 494
//

Text Mined References (39)

PMID Year Title
26240373 2015 Creative template-dependent synthesis by human polymerase mu.
24878922 2014 Decision-making during NHEJ: a network of interactions in human Pol? implicated in substrate recognition and end-bridging.
24487959 2014 Sustained active site rigidity during synthesis by human DNA polymerase ?.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23935073 2013 A specific N-terminal extension of the 8 kDa domain is required for DNA end-bridging by human Pol? and Pol?.
23933132 2013 The BRCT domain and the specific loop 1 of human Pol? are targets of Cdk2/cyclin A phosphorylation.
23275568 2013 Ribonucleotides and manganese ions improve non-homologous end joining by human Pol?.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23143108 2013 DNA expansions generated by human Pol? on iterative sequences.
23034807 2012 DNA-binding determinants promoting NHEJ by human Pol?.
22897684 2012 BRCT domain of DNA polymerase ? has DNA-binding activity and promotes the DNA polymerization activity.
22458338 2012 Host-pathogen interactome mapping for HTLV-1 and -2 retroviruses.
19805281 2009 Limited terminal transferase in human DNA polymerase mu defines the required balance between accuracy and efficiency in NHEJ.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19237606 2009 Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17915942 2007 Solution structure of polymerase mu's BRCT Domain reveals an element essential for its role in nonhomologous end joining.
17483519 2007 Involvement of DNA polymerase mu in the repair of a specific subset of DNA double-strand breaks in mammalian cells.
16963491 2006 A specific loop in human DNA polymerase mu allows switching between creative and DNA-instructed synthesis.
16061182 2005 A gradient of template dependence defines distinct biological roles for family X polymerases in nonhomologous end joining.
15520469 2004 Overexpression of human DNA polymerase mu (Pol mu) in a Burkitt's lymphoma cell line affects the somatic hypermutation rate.
15504045 2004 Pre-steady-state kinetic studies of the fidelity of human DNA polymerase mu.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15199127 2004 Efficient and error-free replication past a minor-groove DNA adduct by the sequential action of human DNA polymerases iota and kappa.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14581466 2004 Lesion bypass by human DNA polymerase mu reveals a template-dependent, sequence-independent nucleotidyl transferase activity.
12888504 2003 Lack of sugar discrimination by human Pol mu requires a single glycine residue.
12853948 2003 The DNA sequence of human chromosome 7.
12640116 2003 Polymerase mu is a DNA-directed DNA/RNA polymerase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12368208 2002 DNA polymerase mu gene expression in B-cell non-Hodgkin's lymphomas: an analysis utilizing in situ hybridization.
12228225 2002 Lesion bypass activities of human DNA polymerase mu.
12077346 2002 Association of DNA polymerase mu (pol mu) with Ku and ligase IV: role for pol mu in end-joining double-strand break repair.
11974916 2002 [Expression and function of terminal deoxynucleotidyl-transferase and discovery of novel DNA polymerase mu].
11724965 2001 Targeting of human DNA polymerase iota to the replication machinery via interaction with PCNA.
10982892 2000 Two novel human and mouse DNA polymerases of the polX family.
10747040 2000 DNA polymerase mu (Pol mu), homologous to TdT, could act as a DNA mutator in eukaryotic cells.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.