Aliases for POLM Gene

Aliases for POLM Gene

  • DNA Polymerase Mu 2 3 5
  • DNA-Directed DNA/RNA Polymerase Mu 3 4
  • Terminal Transferase 3 4
  • Polymerase (DNA) Mu 2 3
  • Pol Iota 2 3
  • Pol Mu 3 4
  • Tdt-N 2 3
  • Polymerase (DNA Directed), Mu 2
  • Polymerase (DNA-Directed), Mu 3
  • EC 2.7.7.7 4
  • Polmu 4
  • POLM 5

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. Diseases associated with POLM include Xeroderma Pigmentosum, Variant Type and Burkitt Lymphoma. Among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and DNA Double Strand Break Response. Gene Ontology (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 Summary 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 , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLM Gene

Genomics for POLM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLM

Top Transcription factor binding sites by QIAGEN in the POLM gene promoter:
  • AREB6
  • FAC1
  • NF-kappaB
  • NF-kappaB1
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1
  • SRF
  • SRF (504 AA)
  • USF1

Genomic Locations for POLM Gene

Genomic Locations for POLM Gene
chr7:44,072,062-44,082,540
(GRCh38/hg38)
Size:
10,479 bases
Orientation:
Minus strand
chr7:44,111,846-44,122,139
(GRCh37/hg19)
Size:
10,294 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 Lys187
  • 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

Protein Domains for POLM Gene

Suggested Antigen Peptide Sequences for POLM Gene

GenScript: Design optimal peptide antigens:
  • Terminal transferase (DPOLM_HUMAN)
  • cDNA FLJ78334, highly similar to Homo sapiens polymerase (DNA directed), mu, mRNA (Q6PIY2_HUMAN)
  • cDNA FLJ12940 fis, clone NT2RP2005038, weakly similar to DNA NUCLEOTIDYLEXOTRANSFERASE (EC 2.7.7.31) (Q9H980_HUMAN)

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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:11130, Rhea:RHEA-COMP:11131, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:83828; EC=2.7.7.7;.
GENATLAS Biochemistry:
polymerase (DNA-directed), mu

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 IEA,TAS --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLM

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 3
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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,IBA 21873635
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
  • DNA damage_NHEJ mechanisms of DSBs repair

Gene Ontology (GO) - Biological Process for POLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006259 DNA metabolic process IEA --
GO:0006281 DNA repair IEA --
GO:0006284 base-excision repair IBA --
GO:0006303 double-strand break repair via nonhomologous end joining IBA,TAS --
GO:0006310 DNA recombination 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

(6) Drugs for POLM Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
dATP Experimental Pharma Agonist, Full agonist 0
dctp Experimental Pharma 0
dgtp Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with POLM: view

Transcripts for POLM Gene

mRNA/cDNA for POLM Gene

4 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLM

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

Expression for POLM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for POLM Gene



Protein tissue co-expression partners for POLM Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Liver(4.5)
  • Kidney(3)
  • Skin(2.6)
  • Intestine(2.4)
  • Heart(2.4)
  • Muscle(2.3)
  • Spleen(2.3)
  • Lung(2.2)
  • Lymph node(2.2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with POLM: view

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 30 31
  • 99.19 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POLM 30 31
  • 83.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Polm 30 17 31
  • 79.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Polm 30
  • 78.03 (n)
Dog
(Canis familiaris)
Mammalia POLM 31
  • 69 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POLM 31
  • 60 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 56 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia polm 30
  • 55.92 (n)
Zebrafish
(Danio rerio)
Actinopterygii polm 30 31
  • 55.37 (n)
OneToOne
zgc56122 30
Bread mold
(Neurospora crassa)
Ascomycetes NCU01321 30
  • 44.69 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for POLM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for POLM: view image

Paralogs for POLM Gene

Paralogs for POLM Gene

(1) SIMAP similar genes for POLM Gene using alignment to 11 proteins:

  • DPOLM_HUMAN
  • C9J222_HUMAN
  • C9JF34_HUMAN
  • F8WB78_HUMAN
  • F8WDE4_HUMAN
  • F8WEJ1_HUMAN
  • H7C2M2_HUMAN
  • Q6P5X8_HUMAN
  • Q6PIY2_HUMAN
  • Q86WQ9_HUMAN
  • Q9H980_HUMAN
genes like me logo Genes that share paralogs with POLM: view

Variants for POLM Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLM Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
732965 Benign: not provided 44,079,739(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
781762 Benign: not provided 44,073,397(-) TC/T FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
rs28382635 - p.Glu107Asp
rs28382644 - p.Gly220Ala
rs28382653 - p.Val246Phe

Additional dbSNP identifiers (rs#s) for POLM Gene

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)

Additional Variant Information for POLM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLM

SNP Genotyping and Copy Number Assay Products

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

Disorders for POLM Gene

MalaCards: The human disease database

(4) MalaCards diseases for POLM Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, variant type
  • xpv
burkitt lymphoma
  • bl
spleen angiosarcoma
  • angiosarcoma of spleen
lig4 syndrome
  • dna ligase iv deficiency
- elite association - COSMIC cancer census association via MalaCards
Search POLM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for POLM

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

No data available for 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 23
  2. 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 23
  3. Two novel human and mouse DNA polymerases of the polX family. (PMID: 10982892) Aoufouchi S … Reynaud CA (Nucleic acids research 2000) 2 3 4
  4. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PMID: 19237606) Michiels S … Benhamou S (Carcinogenesis 2009) 3 41
  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 23

Products for POLM Gene

Sources for POLM Gene