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Aliases for POLM Gene

Aliases for POLM Gene

  • Polymerase (DNA Directed), Mu 2 3
  • Terminal Transferase 3 4
  • Pol Iota 2 3
  • Pol Mu 3 4
  • Polymerase (DNA-Directed), Mu 3
  • DNA Polymerase Mu 3
  • EC 2.7.7.7 4
  • Tdt-N 3
  • Polmu 4

External Ids for POLM Gene

Previous GeneCards Identifiers for POLM Gene

  • GC07M043758
  • GC07M043818
  • GC07M043852
  • GC07M043886
  • GC07M044078
  • GC07M043997
  • GC07M044111

Summaries for POLM Gene

GeneCards Summary for POLM Gene

POLM (Polymerase (DNA Directed), Mu) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair and G2/M DNA damage checkpoint. GO annotations related to this gene include DNA-directed DNA polymerase activity and DNA polymerase activity. An important paralog of this gene is POLB.

UniProtKB/Swiss-Prot for POLM Gene

  • 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.

Gene Wiki entry for POLM Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLM Gene

Genomics for POLM Gene

Regulatory Elements for POLM Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for POLM Gene

Chromosome:
7
Start:
44,072,062 bp from pter
End:
44,082,540 bp from pter
Size:
10,479 bases
Orientation:
Minus strand

Genomic View for POLM Gene

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

RefSeq DNA sequence for POLM Gene

Proteins for POLM Gene

  • Protein details for POLM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP87-DPOLM_HUMAN
    Recommended name:
    DNA-directed DNA/RNA polymerase mu
    Protein Accession:
    Q9NP87
    Secondary Accessions:
    • D3DVK4
    • Q6P5X8
    • Q86WQ9

    Protein attributes for POLM Gene

    Size:
    494 amino acids
    Molecular mass:
    54816 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • DPOLM has a reduced ability to distinguish dNTP and rNTP as substrates, and elongates them on DNA primer strand with a similar efficiency. It is able to polymerize nucleotides on RNA primer strands

    Three dimensional structures from OCA and Proteopedia for POLM Gene

    Alternative splice isoforms for POLM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLM Gene

Proteomics data for POLM Gene at MOPED

Post-translational modifications for POLM Gene

  • Ubiquitination at Lys 187
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for POLM Gene

Domains & Families for POLM Gene

Gene Families for POLM Gene

Graphical View of Domain Structure for InterPro Entry

Q9NP87

UniProtKB/Swiss-Prot:

DPOLM_HUMAN :
  • Contains 1 BRCT domain.
  • Belongs to the DNA polymerase type-X family.
Domain:
  • Contains 1 BRCT domain.
Family:
  • Belongs to the DNA polymerase type-X family.
genes like me logo Genes that share domains with POLM: view

Function for POLM Gene

Molecular function for POLM Gene

GENATLAS Biochemistry:
polymerase (DNA-directed), mu
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for POLM Gene

Gene Ontology (GO) - Molecular Function for POLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity TAS --
GO:0005515 protein binding IPI 22458338
GO:0016779 nucleotidyltransferase activity --
GO:0034061 DNA polymerase activity --
genes like me logo Genes that share ontologies with POLM: view
genes like me logo Genes that share phenotypes with POLM: view

Animal Models for POLM Gene

MGI Knock Outs for POLM:

Animal Model Products

miRNA for POLM Gene

miRTarBase miRNAs that target POLM

No data available for Transcription Factor Targets and HOMER Transcription for POLM Gene

Localization for POLM Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLM Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLM Gene COMPARTMENTS Subcellular localization image for POLM gene
Compartment Confidence
nucleus 4
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for POLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with POLM: view

Pathways & Interactions for POLM Gene

genes like me logo Genes that share pathways with POLM: view

Pathways by source for POLM Gene

1 KEGG pathway for POLM Gene
1 GeneGo (Thomson Reuters) pathway for POLM Gene

Gene Ontology (GO) - Biological Process for POLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
GO:0006302 double-strand break repair TAS --
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006310 DNA recombination IEA --
GO:0016446 somatic hypermutation of immunoglobulin genes IEA --
genes like me logo Genes that share ontologies with POLM: view

No data available for SIGNOR curated interactions for POLM Gene

Drugs & Compounds for POLM Gene

(5) Drugs for POLM Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
dctp Experimental Pharma 0
Deoxyadenosine triphosphate Experimental Pharma 0
dgtp Experimental Pharma 0
Diphosphate Experimental Pharma 0
Magnesium Nutra 0

(2) Additional Compounds for POLM Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
genes like me logo Genes that share compounds with POLM: view

Transcripts for POLM Gene

Unigene Clusters for POLM Gene

Polymerase (DNA directed), mu:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POLM Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c · 13d ^
SP1: - - - - - - -
SP2: - - - - -
SP3: - - - - - - - - -
SP4: - -
SP5: - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - -
SP8:
SP9: - - - - -
SP10: -
SP11:
SP12: -
SP13:
SP14:
SP15: - - - - - - - - - - - - - -
SP16: - - - - - - - -
SP17:
SP18:

ExUns: 14a · 14b ^ 15 ^ 16a · 16b · 16c · 16d · 16e · 16f · 16g
SP1: - -
SP2: - -
SP3: - -
SP4:
SP5: -
SP6: -
SP7: -
SP8: - -
SP9: -
SP10:
SP11: - -
SP12:
SP13: -
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for POLM Gene

GeneLoc Exon Structure for
POLM
ECgene alternative splicing isoforms for
POLM

Expression for POLM Gene

mRNA expression in normal human tissues for POLM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLM Gene

This gene is overexpressed in Urine (65.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLM Gene



SOURCE GeneReport for Unigene cluster for POLM Gene Hs.596982

mRNA Expression by UniProt/SwissProt for POLM Gene

Q9NP87-DPOLM_HUMAN
Tissue specificity: Expressed in a number of tissues. Abundant in thymus
genes like me logo Genes that share expression patterns with POLM: view

Protein tissue co-expression partners for POLM Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for POLM Gene

Orthologs for POLM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POLM 35
  • 83.23 (n)
  • 81.31 (a)
POLM 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Polm 35
  • 79.38 (n)
  • 77.08 (a)
Polm 16
Polm 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLM 35
  • 99.19 (n)
  • 98.79 (a)
POLM 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Polm 35
  • 78.03 (n)
  • 76.27 (a)
dog
(Canis familiaris)
Mammalia POLM 36
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLM 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 56 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia polm 35
  • 55.92 (n)
  • 50 (a)
zebrafish
(Danio rerio)
Actinopterygii polm 35
  • 55.37 (n)
  • 50.92 (a)
zgc56122 35
polm 36
  • 31 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01321 35
  • 44.69 (n)
  • 29.58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
Species with no ortholog for POLM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 POLM Gene

ENSEMBL:
Gene Tree for POLM (if available)
TreeFam:
Gene Tree for POLM (if available)

Paralogs for POLM Gene

Paralogs for POLM Gene

genes like me logo Genes that share paralogs with POLM: view

Variants for POLM Gene

Sequence variations from dbSNP and Humsavar for POLM Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1139270 -- 44,075,830(-) GCCCG(A/G)GAGGT intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs3218653 -- 44,079,429(-) GCCAC(C/G)CTCTG intron-variant
rs3218654 -- 44,079,791(-) AGGTG(A/G)GGGAT intron-variant, upstream-variant-2KB
rs3218655 -- 44,082,337(-) TACCT(G/T)GTCGA reference, synonymous-codon, nc-transcript-variant
rs3218656 -- 44,080,024(-) AAGCC(A/G)GTACG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for POLM Gene

Variant ID Type Subtype PubMed ID
nsv428165 CNV Gain 18775914
nsv830980 CNV Loss 17160897
nsv8082 CNV Gain 18304495
nsv887996 CNV Loss 21882294
nsv470210 CNV Loss 18288195
nsv830983 CNV Loss 17160897

Variation tolerance for POLM Gene

Residual Variation Intolerance Score: 84.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.25; 62.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POLM Gene

HapMap Linkage Disequilibrium report
POLM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLM Gene

Disorders for POLM Gene

Relevant External Links for POLM

Genetic Association Database (GAD)
POLM
Human Genome Epidemiology (HuGE) Navigator
POLM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POLM
genes like me logo Genes that share disorders with POLM: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POLM Gene

Publications for POLM Gene

  1. Nonhomologous DNA end joining (NHEJ) and chromosomal translocations in humans. (PMID: 20012587) Lieber M.R. … Tsai A.G. (Subcell. Biochem. 2010) 23 67
  2. Requirement for XLF/Cernunnos in alignment-based gap filling by DNA polymerases lambda and mu for nonhomologous end joining in human whole-cell extracts. (PMID: 19420065) Akopiants K. … Povirk L.F. (Nucleic Acids Res. 2009) 23 67
  3. [Non-homologous DNA end joining--new proteins, new functions, new mechanisms]. (PMID: 19514464) PopA8awski T. … BA8asiak J. (Postepy Biochem. 2009) 23 67
  4. Limited terminal transferase in human DNA polymerase mu defines the required balance between accuracy and efficiency in NHEJ. (PMID: 19805281) Andrade P. … Blanco L. (Proc. Natl. Acad. Sci. U.S.A. 2009) 23 67
  5. Conferring a template-dependent polymerase activity to terminal deoxynucleotidyltransferase by mutations in the Loop1 region. (PMID: 19502493) Romain F. … Delarue M. (Nucleic Acids Res. 2009) 23 67

Products for POLM Gene

Sources for POLM Gene

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