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Aliases for POLM Gene

Aliases for POLM Gene

  • DNA Polymerase Mu 2 3 5
  • Terminal Transferase 3 4
  • Polymerase (DNA) Mu 2 3
  • Pol Iota 2 3
  • Pol Mu 3 4
  • DNA-Directed DNA/RNA Polymerase Mu 3
  • Polymerase (DNA Directed), Mu 2
  • Polymerase (DNA-Directed), 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 (DNA Polymerase Mu) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair and DNA damage_NHEJ mechanisms of DSBs repair. GO annotations related to this gene include DNA-directed DNA polymerase activity and DNA polymerase activity. An important paralog of this gene is DNTT.

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

Additional gene information for POLM Gene

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

Genomics for POLM Gene

Regulatory Elements for POLM Gene

Enhancers for POLM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H044079 1.6 Ensembl ENCODE dbSUPER 48.7 -0.3 -262 6 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 POLM RASA4CP ENSG00000239556 ENSG00000228434 SPDYE1 DDX56 TMED4 AEBP1
GH07H044043 1.7 FANTOM5 ENCODE dbSUPER 32.1 +36.8 36776 4 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 SP3 POLM RASA4CP ENSG00000241057 ENSG00000239556 DBNL STK17A MIR6837
GH07H044071 1.4 Ensembl ENCODE dbSUPER 36.1 +8.7 8690 5 ELF3 FOXA2 NFIB ARID4B KLF17 ZSCAN9 RAD21 YY1 SLC30A9 FOS POLM RASA4CP UBE2D4 MIR6838
GH07H043868 1.3 ENCODE dbSUPER 30.5 +212.6 212648 3 HDGF PKNOX1 ARID4B SIN3A FEZF1 YY1 FOS SP3 SP5 ZHX2 POLM URGCP DDX56 ENSG00000239556 ENSG00000228434 TMED4 ENSG00000241057 LINC00957 RASA4CP MRPS24
GH07H044184 1.1 ENCODE dbSUPER 33.4 -102.5 -102497 1 YBX3 SIN3A KLF17 GLI4 RFX5 ZNF366 SCRT2 RCOR1 FOS ZNF645 ENSG00000228680 POLM SNORA5C DDX56 SNORA5B TMED4 SNORA5A ENSG00000228596 RPL18AP10 ENSG00000228434
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POLM on UCSC Golden Path with GeneCards custom track

Promoters for POLM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000211780 40 1801 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF207

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

Genes around POLM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for POLM Gene

  • Ubiquitination at posLast=187187
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POLM Gene

Domains & Families for POLM Gene

Gene Families for POLM Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9NP87

UniProtKB/Swiss-Prot:

DPOLM_HUMAN :
  • Belongs to the DNA polymerase type-X family.
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

Phenotypes From GWAS Catalog 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,IEA --
GO:0005515 protein binding IPI 22458338
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
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

CRISPR Products

miRNA for POLM Gene

miRTarBase miRNAs that target POLM

Inhibitory RNA Products

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLM gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
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 IEA --
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus 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
Phosphoric acid Approved Pharma 0
dATP Experimental Pharma Full agonist, Agonist 0
dctp Experimental Pharma 0
dgtp Experimental Pharma 0
Magnesium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for POLM Gene



Protein tissue co-expression partners for POLM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POLM Gene:

POLM

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.

Evidence on tissue expression from TISSUES for POLM Gene

  • Nervous system(4.9)
  • Blood(4.4)
  • Liver(4.3)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with POLM: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia POLM 33 34
  • 99.19 (n)
cow
(Bos Taurus)
Mammalia POLM 33 34
  • 83.23 (n)
mouse
(Mus musculus)
Mammalia Polm 33 16 34
  • 79.38 (n)
rat
(Rattus norvegicus)
Mammalia Polm 33
  • 78.03 (n)
dog
(Canis familiaris)
Mammalia POLM 34
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLM 34
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia polm 33
  • 55.92 (n)
zebrafish
(Danio rerio)
Actinopterygii polm 33 34
  • 55.37 (n)
zgc56122 33
bread mold
(Neurospora crassa)
Ascomycetes NCU01321 33
  • 44.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToMany
Species where no ortholog for POLM was found in the sources mined by GeneCards:
  • 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
rs1000219874 -- 44,080,356(+) CCCCA(A/T)GCCCA intron-variant, upstream-variant-2KB
rs1000269048 -- 44,080,595(+) CTGGT(C/G)ATCTG intron-variant, upstream-variant-2KB
rs1001110517 -- 44,080,391(+) ATAGC(A/T)TCCAG intron-variant, upstream-variant-2KB
rs1001439281 -- 44,080,020(+) AGGCC(A/G)TACTC intron-variant, upstream-variant-2KB
rs1001494849 -- 44,080,259(+) CCAAG(C/T)GGGCT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv1074089 CNV deletion 25765185
nsv428165 CNV gain 18775914
nsv470210 CNV loss 18288195
nsv8082 CNV gain 18304495
nsv830980 CNV loss 17160897
nsv830983 CNV loss 17160897

Variation tolerance for POLM Gene

Residual Variation Intolerance Score: 84.3% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

No disorders were found for POLM Gene.

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

Publications for POLM Gene

  1. Polymerase mu is a DNA-directed DNA/RNA polymerase. (PMID: 12640116) Nick McElhinny SA … Ramsden DA (Molecular and cellular biology 2003) 3 4 22 60
  2. Two novel human and mouse DNA polymerases of the polX family. (PMID: 10982892) Aoufouchi S … Reynaud CA (Nucleic acids research 2000) 2 3 4 60
  3. DNA polymerase mu (Pol mu), homologous to TdT, could act as a DNA mutator in eukaryotic cells. (PMID: 10747040) Domínguez O … Blanco L (The EMBO journal 2000) 3 4 22 60
  4. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 45 60
  5. Limited terminal transferase in human DNA polymerase mu defines the required balance between accuracy and efficiency in NHEJ. (PMID: 19805281) Andrade P … Blanco L (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 22 60

Products for POLM Gene

Sources for POLM Gene

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