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Aliases for SETMAR Gene

Aliases for SETMAR Gene

  • SET Domain And Mariner Transposase Fusion Gene 2 3
  • METNASE 3 4 6
  • SET Domain And Mariner Transposase Fusion Protein 3 4
  • SET Domain And Mariner Transposase Fusion Gene-Containing Protein 3
  • Histone-Lysine N-Methyltransferase SETMAR 3
  • EC 2.1.1.43 64
  • HsMar1 3
  • Mar1 3

External Ids for SETMAR Gene

Summaries for SETMAR Gene

Entrez Gene Summary for SETMAR Gene

  • This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneCards Summary for SETMAR Gene

SETMAR (SET Domain And Mariner Transposase Fusion Gene) is a Protein Coding gene. Among its related pathways are Lysine degradation. GO annotations related to this gene include protein homodimerization activity and histone-lysine N-methyltransferase activity. An important paralog of this gene is EHMT1.

UniProtKB/Swiss-Prot for SETMAR Gene

  • Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (PubMed:16332963, PubMed:16672366, PubMed:17877369, PubMed:17403897, PubMed:18263876, PubMed:22231448, PubMed:24573677, PubMed:20521842). In parallel, has a histone methyltransferase activity and methylates Lys-4 and Lys-36 of histone H3. Specifically mediates dimethylation of H3 Lys-36 at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (PubMed:16332963, PubMed:21187428, PubMed:22231448). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (PubMed:18790802, PubMed:20457750).

Gene Wiki entry for SETMAR Gene

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

Genomics for SETMAR Gene

Genomic Location for SETMAR Gene

Start:
4,303,304 bp from pter
End:
4,317,567 bp from pter
Size:
14,264 bases
Orientation:
Plus strand

Genomic View for SETMAR Gene

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

RefSeq DNA sequence for SETMAR Gene

Regulatory Elements for SETMAR Gene

Proteins for SETMAR Gene

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

    Protein Symbol:
    Q53H47-SETMR_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase SETMAR
    Protein Accession:
    Q53H47
    Secondary Accessions:
    • B4DY74
    • E7EN68
    • Q13579
    • Q1G668
    • Q96F41

    Protein attributes for SETMAR Gene

    Size:
    684 amino acids
    Molecular mass:
    78034 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    • Homodimer (PubMed:20521842). Interacts with PRPF19; required for SETMAR recruitment to damaged DNA sites (PubMed:18263876). Interacts with PCNA (PubMed:20457750). Interacts with TOP2A; stimulates TOP2A topoisomerase activity (PubMed:18790802, PubMed:20457750). May interact with RAD9A and/or RAD9B (PubMed:20457750).
    Miscellaneous:
    • The mariner transposase region in only present in primates and appeared 40-58 million years ago, after the insertion of a transposon downstream of a preexisting SET gene, followed by the de novo exonization of previously non-coding sequence and the creation of a new intron
    SequenceCaution:
    • Sequence=AAH11635.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAY29570.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD96454.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SETMAR Gene

    Alternative splice isoforms for SETMAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SETMAR Gene

Proteomics data for SETMAR Gene at MOPED

Selected DME Specific Peptides for SETMAR Gene

Post-translational modifications for SETMAR Gene

  • Methylated. Methylation regulates activity in DNA decatenation.
  • Phosphorylated at Ser-508 by CHEK1 and dephosphorylated by protein phosphatase 2A/PP2A. Phosphorylation at Ser-508 is enhanced by DNA damage and promotes recruitment to damaged DNA. It stimulates DNA repair and impairs replication fork restart.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SETMAR Gene

Domains for SETMAR Gene

UniProtKB/Swiss-Prot:

SETMR_HUMAN
Domain:
  • The mariner transposase Hsmar1 region mediates DNA-binding. It has retained some of the nucleases activity but has lost its transposase activity because the active site contains an Asn in position 610 instead of an Asp residue.:
    • Q53H47
  • In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster:
    • Q53H47
  • Contains 1 post-SET domain.:
    • Q53H47
  • Contains 1 pre-SET domain.:
    • Q53H47
  • Contains 1 SET domain.:
    • Q53H47
Family:
  • In the N-terminal section; belongs to the class V-like SAM-binding methyltransferase superfamily.:
    • Q53H47
  • In the C-terminal section; belongs to the mariner transposase family.:
    • Q53H47
genes like me logo Genes that share domains with SETMAR: view

No data available for Gene Families for SETMAR Gene

Function for SETMAR Gene

Molecular function for SETMAR Gene

UniProtKB/Swiss-Prot CatalyticActivity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Function: Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (PubMed:16332963, PubMed:16672366, PubMed:17877369, PubMed:17403897, PubMed:18263876, PubMed:22231448, PubMed:24573677, PubMed:20521842). In parallel, has a histone methyltransferase activity and methylates Lys-4 and Lys-36 of histone H3. Specifically mediates dimethylation of H3 Lys-36 at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (PubMed:16332963, PubMed:21187428, PubMed:22231448). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (PubMed:18790802, PubMed:20457750).

Enzyme Numbers (IUBMB) for SETMAR Gene

Gene Ontology (GO) - Molecular Function for SETMAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 single-stranded DNA endodeoxyribonuclease activity IMP 24573677
GO:0003677 DNA binding --
GO:0003690 double-stranded DNA binding IMP 24573677
GO:0003697 single-stranded DNA binding IMP 24573677
GO:0004519 endonuclease activity IMP 22231448
genes like me logo Genes that share ontologies with SETMAR: view
genes like me logo Genes that share phenotypes with SETMAR: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SETMAR Gene

Localization for SETMAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for SETMAR Gene

Nucleus. Chromosome. Note=Recruited on damaged DNA at sites of double-strand breaks. {ECO:0000269 PubMed:18263876}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SETMAR Gene COMPARTMENTS Subcellular localization image for SETMAR gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for SETMAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000793 colocalizes_with condensed chromosome IDA 18790802
GO:0005634 nucleus IDA 22231448
GO:0035861 site of double-strand break IMP 22231448
genes like me logo Genes that share ontologies with SETMAR: view

Pathways for SETMAR Gene

SuperPathways for SETMAR Gene

Superpath Contained pathways
1 Lysine degradation
genes like me logo Genes that share pathways with SETMAR: view

Pathways by source for SETMAR Gene

1 KEGG pathway for SETMAR Gene

Gene Ontology (GO) - Biological Process for SETMAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000729 DNA double-strand break processing IDA 21491884
GO:0000737 DNA catabolic process, endonucleolytic IMP 24573677
GO:0006303 double-strand break repair via nonhomologous end joining IMP 18263876
GO:0006313 transposition, DNA-mediated IEA --
GO:0008283 cell proliferation IMP 20457750
genes like me logo Genes that share ontologies with SETMAR: view

Compounds for SETMAR Gene

(2) HMDB Compounds for SETMAR Gene

Compound Synonyms Cas Number PubMed IDs
S-Adenosylhomocysteine
  • (S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine
979-92-0
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0
genes like me logo Genes that share compounds with SETMAR: view

Transcripts for SETMAR Gene

Unigene Clusters for SETMAR Gene

SET domain and mariner transposase fusion gene:
Representative Sequences:

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

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d
SP1: - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - -
SP6: -
SP7: - - - - - - - -
SP8:

Relevant External Links for SETMAR Gene

GeneLoc Exon Structure for
SETMAR
ECgene alternative splicing isoforms for
SETMAR

Expression for SETMAR Gene

mRNA expression in normal human tissues for SETMAR Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SETMAR Gene

SOURCE GeneReport for Unigene cluster for SETMAR Gene Hs.475300

mRNA Expression by UniProt/SwissProt for SETMAR Gene

Q53H47-SETMR_HUMAN
Tissue specificity: Widely expressed, with highest expression in placenta and ovary and lowest expression in skeletal muscle.
genes like me logo Genes that share expressions with SETMAR: view

Orthologs for SETMAR Gene

This gene was present in the common ancestor of animals.

Orthologs for SETMAR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SETMAR 36
  • 99.61 (n)
  • 99.56 (a)
cow
(Bos Taurus)
Mammalia LOC534913 36
  • 90.76 (n)
  • 85.84 (a)
SETMAR 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SETMAR 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Setmar 37
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SETMAR 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SETMAR 37
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101747682 36
  • 64.66 (n)
  • 67.84 (a)
lizard
(Anolis carolinensis)
Reptilia SETMAR 37
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia setmar 36
  • 59.26 (n)
  • 53.33 (a)
zebrafish
(Danio rerio)
Actinopterygii setmar 37
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4565 36
  • 54.36 (n)
  • 46.59 (a)
G9a 37
  • 5 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R08F11.6 38
  • 42 (a)
Y73F8A.29 38
  • 43 (a)
C06B8.5 38
  • 43 (a)
M01D1.4 38
  • 42 (a)
ZK1225.3 38
  • 41 (a)
ZK563.3 38
  • 43 (a)
Y105C5B.22 38
  • 42 (a)
Y71D11A.4 38
  • 42 (a)
Y51H4A.8 38
  • 42 (a)
F47G9.5 38
  • 42 (a)
ZK546.8 38
  • 42 (a)
K07C6.12 38
  • 42 (a)
C30G4.1 38
  • 42 (a)
Y116A8B.2 38
  • 42 (a)
F15E11.6 38
  • 42 (a)
Y53F4B.34 38
  • 42 (a)
ZC132.1 38
  • 42 (a)
F16D3.5 38
  • 42 (a)
C31A11.2 38
  • 42 (a)
F11D11.9 38
  • 42 (a)
Y73B3A.19 38
  • 43 (a)
C16C8.6 38
  • 43 (a)
C36A4.7 38
  • 42 (a)
C54H2.2 38
  • 43 (a)
F35B3.2 38
  • 42 (a)
Y45G12C.13 38
  • 42 (a)
Y49F6A.4 38
  • 43 (a)
C33A12.5 38
  • 42 (a)
R05G6.2 38
  • 42 (a)
Y64G10A.5 38
  • 42 (a)
Y119D3A.5 38
  • 42 (a)
Y95B8A.3 38
  • 42 (a)
ZC53.3 38
  • 43 (a)
T27E7.7 38
  • 43 (a)
C29E6.6 38
  • 42 (a)
F44F4.8 38
  • 42 (a)
F56A4.8 38
  • 42 (a)
F56D5.7 38
  • 42 (a)
T06D8.4 38
  • 42 (a)
C14A6.4 38
  • 42 (a)
Y39A3A.1 38
  • 42 (a)
E03H4.1 38
  • 42 (a)
F35B3.6 38
  • 42 (a)
R07H5.5 38
  • 42 (a)
F27B3.4 38
  • 42 (a)
T26H8.1 38
  • 42 (a)
R10E4.8 38
  • 42 (a)
Y45F10C.5 38
  • 42 (a)
Y7A5A.4 38
  • 42 (a)
F30B5.5 38
  • 43 (a)
T12B5.6 38
  • 42 (a)
B0564.5 38
  • 42 (a)
K09E10.3 38
  • 43 (a)
Y37A1A.1 38
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 41 (a)
OneToOne
Species with no ortholog for SETMAR:
  • 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)
  • bread mold (Neurospora crassa)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)

Evolution for SETMAR Gene

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

Paralogs for SETMAR Gene

Selected SIMAP similar genes for SETMAR Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for SETMAR Gene

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

Variants for SETMAR Gene

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

Variant ID Type Subtype PubMed ID
nsv876429 CNV Loss 21882294
dgv272n21 CNV Loss 19592680
dgv1431e1 CNV Complex 17122850
nsv876461 CNV Gain 21882294
nsv876462 CNV Loss 21882294
nsv469899 CNV Loss 18288195
nsv876463 CNV Loss 21882294

Relevant External Links for SETMAR Gene

HapMap Linkage Disequilibrium report
SETMAR

No data available for Sequence variations from dbSNP and Humsavar for SETMAR Gene

Disorders for SETMAR Gene

(1) University of Copenhagen DISEASES for SETMAR Gene

Relevant External Links for SETMAR

Genetic Association Database (GAD)
SETMAR
Human Genome Epidemiology (HuGE) Navigator
SETMAR
genes like me logo Genes that share disorders with SETMAR: view

No data available for UniProtKB/Swiss-Prot for SETMAR Gene

Publications for SETMAR Gene

  1. Molecular evolution of an ancient mariner transposon, Hsmar1, in the human genome. (PMID: 9461395) Robertson H.M. … Zumpano K.L. (Gene 1997) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The SET domain protein Metnase mediates foreign DNA integration and links integration to nonhomologous end-joining repair. (PMID: 16332963) Lee S.-H. … Hromas R. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4
  4. Birth of a chimeric primate gene by capture of the transposase gene from a mobile element. (PMID: 16672366) Cordaux R. … Feschotte C. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4
  5. The ancient mariner sails again: transposition of the human Hsmar1 element by a reconstructed transposase and activities of the SETMAR protein on transposon ends. (PMID: 17403897) Miskey C. … Ivics Z. (Mol. Cell. Biol. 2007) 3 4

Products for SETMAR Gene

Sources for SETMAR Gene

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