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POLM DNA polymerase mu [ Homo sapiens (human) ]

Gene ID: 27434, updated on 13-Jan-2019

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
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
Expression
Ubiquitous expression in spleen (RPKM 6.9), lymph node (RPKM 5.6) and 25 other tissues See more
Orthologs

Genomic context

See POLM in Genome Data Viewer
Location:
7p13
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (44072062..44082540, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44111846..44122129, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene drebrin like Neighboring gene microRNA 6837 Neighboring gene phosphoglycerate mutase 2 Neighboring gene microRNA 6838 Neighboring gene AE binding protein 1 Neighboring gene microRNA 4649 Neighboring gene DNA polymerase delta 2, accessory subunit

Genomic regions, transcripts, and products

Expression

  • Project title: 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Non-homologous end-joining, organism-specific biosystem (from KEGG)
    Non-homologous end-joining, organism-specific biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
  • Non-homologous end-joining, conserved biosystem (from KEGG)
    Non-homologous end-joining, conserved biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
  • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
    Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35482

Gene Ontology Provided by GOA

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

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_037416.1
XP_005249768.1
XP_006715755.1
XP_006715759.1
XP_006715761.1
XP_011513577.1
XP_011513580.1
XP_011513581.1
XP_011513584.1
XP_011513587.1
XP_011513588.1
XP_011513589.1
XP_016867487.1
XP_016867488.1
XP_016867489.1
XP_016867490.1
XP_016867491.1
XP_016867492.1
XP_016867493.1
XP_016867494.1

NCBI Reference Sequences (RefSeq)

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_001284330.1NP_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_001284331.1NP_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_001362683.1NP_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
    Q9NP87
    Related
    ENSP00000242248.5, ENST00000242248.9
    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_104299.1 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_156112.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AA917987, AC017116, AF176097, AU309799, BC049202, BX395027
  3. NR_156113.1 RNA Sequence

    Status: VALIDATED

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    44072062..44082540 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012001.2XP_016867490.1  DNA-directed DNA/RNA polymerase mu isoform X10

  2. XM_017011999.2XP_016867488.1  DNA-directed DNA/RNA polymerase mu isoform X5

  3. XM_017011998.2XP_016867487.1  DNA-directed DNA/RNA polymerase mu isoform X4

  4. XM_017012000.2XP_016867489.1  DNA-directed DNA/RNA polymerase mu isoform X8

  5. XM_011515278.2XP_011513580.1  DNA-directed DNA/RNA polymerase mu isoform X3

    Conserved Domains (2) summary
    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:161422
    NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
  6. XM_011515279.2XP_011513581.1  DNA-directed DNA/RNA polymerase mu isoform X6

    Conserved Domains (3) summary
    cd00141
    Location:161497
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    smart00483
    Location:164498
    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 ...
  7. XM_011515275.2XP_011513577.1  DNA-directed DNA/RNA polymerase mu isoform X1

    Conserved Domains (2) summary
    cd00141
    Location:161472
    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 ...
  8. XM_006715692.3XP_006715755.1  DNA-directed DNA/RNA polymerase mu isoform X2

    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 ...
  9. XM_005249711.2XP_005249768.1  DNA-directed DNA/RNA polymerase mu isoform X9

    Conserved Domains (2) summary
    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:183327
    NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
  10. XM_017012003.1XP_016867492.1  DNA-directed DNA/RNA polymerase mu isoform X13

    Conserved Domains (1) summary
    cl11966
    Location:13203
    NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
  11. XM_006715696.2XP_006715759.1  DNA-directed DNA/RNA polymerase mu isoform X7

    Conserved Domains (2) summary
    cd00141
    Location:121377
    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 ...
  12. XM_017012002.1XP_016867491.1  DNA-directed DNA/RNA polymerase mu isoform X13

    Conserved Domains (1) summary
    cl11966
    Location:13203
    NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
  13. XM_011515285.1XP_011513587.1  DNA-directed DNA/RNA polymerase mu isoform X13

    Conserved Domains (1) summary
    cl11966
    Location:13203
    NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
  14. XM_011515282.3XP_011513584.1  DNA-directed DNA/RNA polymerase mu isoform X12

    Conserved Domains (1) summary
    cl11966
    Location:48239
    NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
  15. XM_006715698.4XP_006715761.1  DNA-directed DNA/RNA polymerase mu isoform X11

    Conserved Domains (1) summary
    cl11966
    Location:52240
    NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
  16. XM_017012004.2XP_016867493.1  DNA-directed DNA/RNA polymerase mu isoform X14

  17. XM_017012005.2XP_016867494.1  DNA-directed DNA/RNA polymerase mu isoform X15

  18. XM_011515286.3XP_011513588.1  DNA-directed DNA/RNA polymerase mu isoform X16

    Conserved Domains (2) summary
    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:161243
    NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
  19. XM_011515287.3XP_011513589.1  DNA-directed DNA/RNA polymerase mu isoform X17

    Related
    ENSP00000414025.1, ENST00000458246.5
    Conserved Domains (2) summary
    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:161227
    NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins

RNA

  1. XR_926932.2 RNA Sequence

  2. XR_926931.2 RNA Sequence

  3. XR_001744637.2 RNA Sequence

  4. XR_001744636.2 RNA Sequence

  5. XR_001744642.1 RNA Sequence

  6. XR_001744639.2 RNA Sequence

  7. XR_001744638.2 RNA Sequence

  8. XR_001744640.2 RNA Sequence

  9. XR_001744641.2 RNA Sequence

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