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    POLM DNA polymerase mu [ Homo sapiens (human) ]

    Gene ID: 27434, updated on 2-Nov-2024

    Summary

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    Official Symbol
    POLMprovided by HGNC
    Official Full Name
    DNA polymerase muprovided by HGNC
    Primary source
    HGNC:HGNC:9185
    See related
    Ensembl:ENSG00000122678 MIM:606344; AllianceGenome:HGNC:9185
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Tdt-N; Pol Mu
    Summary
    Predicted to enable DNA-directed DNA polymerase activity. Predicted to be involved in double-strand break repair via nonhomologous end joining. Predicted to act upstream of or within B cell differentiation and somatic hypermutation of immunoglobulin genes. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 6.9), lymph node (RPKM 5.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POLM in Genome Data Viewer
    Location:
    7p13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (44072062..44082530, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (44230561..44241032, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44111661..44122129, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene drebrin like Neighboring gene microRNA 6837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44099073-44099648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44099649-44100225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25927 Neighboring gene phosphoglycerate mutase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25929 Neighboring gene microRNA 6838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44119156-44120063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:44121903-44122403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44140397-44140898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44140899-44141398 Neighboring gene AE binding protein 1 Neighboring gene microRNA 4649 Neighboring gene DNA polymerase delta 2, accessory subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44163329-44164233

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Pol μ dGTP mismatch insertion opposite T coupled with ligation reveals promutagenic DNA repair intermediate. Çağlayan M, et al. Nat Commun, 2018 Oct 11. PMID 30310068, Free PMC Article
    2. Lesion bypass by human DNA polymerase mu reveals a template-dependent, sequence-independent nucleotidyl transferase activity. Covo S, et al. J Biol Chem, 2004 Jan 9. PMID 14581466
    3. The BRCT domain and the specific loop 1 of human Polμ are targets of Cdk2/cyclin A phosphorylation. Esteban V, et al. DNA Repair (Amst), 2013 Oct. PMID 23933132
    4. Ribonucleotides and manganese ions improve non-homologous end joining by human Polμ. Martin MJ, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275568, Free PMC Article
    5. DNA expansions generated by human Polμ on iterative sequences. Aza A, et al. Nucleic Acids Res, 2013 Jan 7. PMID 23143108, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNA Polymerase and dRP-lyase activities of polymorphic variants of human Pol iota.
      Title: DNA Polymerase and dRP-lyase activities of polymorphic variants of human Pol ι.
    2. Mechanism of genome instability mediated by human DNA polymerase mu misincorporation.
      Title: Mechanism of genome instability mediated by human DNA polymerase mu misincorporation.
    3. DNA polymerase mu: An inflexible scaffold for substrate flexibility.
      Title: DNA polymerase mu: An inflexible scaffold for substrate flexibility.
    4. pol mu-mediated deoxyguanosine triphosphate mismatch insertion opposite template base T coupled with ligation could be a feature of mutation prone nonhomologous end joining during double-strand break repair.
      Title: Pol μ dGTP mismatch insertion opposite T coupled with ligation reveals promutagenic DNA repair intermediate.
    5. Polmu point mutations affecting 2 conserved adjacent residues located in the 8 kDa domain, G174S and R175H, limit the efficiency of accurate NHEJ by Polmu in vitro and in vivo due to decreased template dependency during NHEJ, which renders the error-rate of the mutants higher due to the ability of Polmu to randomly incorporate nucleotides at DSBs.
      Title: Polμ tumor variants decrease the efficiency and accuracy of NHEJ.
    6. Structural accommodation of ribonucleotide incorporation by the DNA repair enzyme polymerase Mu has been described.
      Title: Structural accommodation of ribonucleotide incorporation by the DNA repair enzyme polymerase Mu.
    7. analysis of template-dependent synthesis by human polymerase mu
      Title: Creative template-dependent synthesis by human polymerase mu.
    8. 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.
      Title: Decision-making during NHEJ: a network of interactions in human Polμ implicated in substrate recognition and end-bridging.
    9. specific loop 1 residues contribute to Pol mu's unique ability to catalyze template-dependent NHEJ of DSBs with unpaired 3' ends
      Title: Sustained active site rigidity during synthesis by human DNA polymerase μ.
    10. 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
      Title: The BRCT domain and the specific loop 1 of human Polμ are targets of Cdk2/cyclin A phosphorylation.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35482

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-directed DNA polymerase activity TAS
    Traceable Author Statement
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via nonhomologous end joining IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair via nonhomologous end joining TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    DNA-directed DNA/RNA polymerase mu
    Names
    Pol iota
    polymerase (DNA) mu
    polymerase (DNA-directed), mu
    terminal transferase
    NP_001271259.1
    NP_001271260.1
    NP_001349612.1
    NP_037416.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001284330.2 → NP_001271259.1  DNA-directed DNA/RNA polymerase mu isoform 2

      See identical proteins and their annotated locations for NP_001271259.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AA917987, AU309799, BC049202
      Consensus CDS
      CCDS64636.1
      UniProtKB/Swiss-Prot
      Q9NP87
      Related
      ENSP00000379174.3, ENST00000395831.7
      Conserved Domains (3) summary
      smart00483
      Location:152 → 383
      POLXc; DNA polymerase X family
      cd00027
      Location:29 → 109
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
      cl11966
      Location:156 → 387
      NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins

    2. NM_001284331.2 → NP_001271260.1  DNA-directed DNA/RNA polymerase mu isoform 3

      See identical proteins and their annotated locations for NP_001271260.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This results in a isoform (3) that is shorter, compared to isoform 1.
      Source sequence(s)
      AA917987, AU309799, BC062590
      Consensus CDS
      CCDS64635.1
      UniProtKB/Swiss-Prot
      Q9NP87
      Related
      ENSP00000335141.6, ENST00000335195.10
      Conserved Domains (3) summary
      cd00141
      Location:156 → 455
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
      smart00483
      Location:152 → 456
      POLXc; DNA polymerase X family
      cd00027
      Location:29 → 109
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

    3. NM_001362683.2 → NP_001349612.1  DNA-directed DNA/RNA polymerase mu isoform 4

      Status: VALIDATED

      Source sequence(s)
      AA917987, AF176097, AU309799, BM744180, BM756419
      Conserved Domains (2) summary
      cd00141
      Location:156 → 467
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
      cd00027
      Location:29 → 109
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

    4. NM_013284.4 → NP_037416.1  DNA-directed DNA/RNA polymerase mu isoform 1

      See identical proteins and their annotated locations for NP_037416.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AA917987, AF176097, AU309799
      Consensus CDS
      CCDS34625.1
      UniProtKB/Swiss-Prot
      D3DVK4, Q6P5X8, Q86WQ9, Q9NP87
      Related
      ENSP00000242248.5, ENST00000242248.10
      Conserved Domains (3) summary
      cd00141
      Location:156 → 492
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
      smart00483
      Location:152 → 493
      POLXc; DNA polymerase X family
      cd00027
      Location:29 → 109
      BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

    RNA

    1. NR_104299.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA917987, AC017116, AK023002, AU309799
      Related
      ENST00000430942.5

    2. NR_156112.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA917987, AC017116, AF176097, AU309799, BC049202, BX395027

    3. NR_156113.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA917987, AU309799, BC049202, BG386713, BX395027

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      44072062..44082530 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      44230561..44241032 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NP87.1 GenPept UniProtKB/Swiss-Prot:Q9NP87

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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