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    POLM DNA polymerase mu [ Homo sapiens (human) ]

    Gene ID: 27434, updated on 28-Oct-2024

    Summary

    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, Oct 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 6.9), lymph node (RPKM 5.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001284330.2NP_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:152383
      POLXc; DNA polymerase X family
      cd00027
      Location:29109
      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:156387
      NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
    2. NM_001284331.2NP_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:156455
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
      smart00483
      Location:152456
      POLXc; DNA polymerase X family
      cd00027
      Location:29109
      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_001362683.2NP_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:156467
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
      cd00027
      Location:29109
      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_013284.4NP_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:156492
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
      smart00483
      Location:152493
      POLXc; DNA polymerase X family
      cd00027
      Location:29109
      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)