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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Enzymes Metabolic proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
3
Cytoband
p26.1
Chromosome location (bp)
4303332 - 4317265
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1,2,3,4,5,6,7,8. 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 9,10,11. Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A 12,13....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000729[DNA double-strand break processing] GO:0000737[DNA catabolic process, endonucleolytic] GO:0000793[condensed chromosome] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003690[double-stranded DNA binding] GO:0003697[single-stranded DNA binding] GO:0003824[catalytic activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0008152[metabolic process] GO:0008168[methyltransferase activity] GO:0008270[zinc ion binding] GO:0008283[cell population proliferation] GO:0015074[DNA integration] GO:0016740[transferase activity] GO:0016787[hydrolase activity] GO:0018024[histone-lysine N-methyltransferase activity] GO:0031297[replication fork processing] GO:0032259[methylation] GO:0034968[histone lysine methylation] GO:0035861[site of double-strand break] GO:0042800[histone methyltransferase activity (H3-K4 specific)] GO:0042803[protein homodimerization activity] GO:0044547[DNA topoisomerase binding] GO:0044774[mitotic DNA integrity checkpoint signaling] GO:0046872[metal ion binding] GO:0046975[histone H3K36 methyltransferase activity] GO:0051568[histone H3-K4 methylation] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0097676[histone H3-K36 dimethylation] GO:0140954[] GO:2000373[positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining] GO:2001251[negative regulation of chromosome organization]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000729[DNA double-strand break processing] GO:0000737[DNA catabolic process, endonucleolytic] GO:0000793[condensed chromosome] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003690[double-stranded DNA binding] GO:0003697[single-stranded DNA binding] GO:0003824[catalytic activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0008152[metabolic process] GO:0008168[methyltransferase activity] GO:0008270[zinc ion binding] GO:0008283[cell population proliferation] GO:0015074[DNA integration] GO:0016740[transferase activity] GO:0016787[hydrolase activity] GO:0018024[histone-lysine N-methyltransferase activity] GO:0031297[replication fork processing] GO:0032259[methylation] GO:0034968[histone lysine methylation] GO:0035861[site of double-strand break] GO:0042800[histone methyltransferase activity (H3-K4 specific)] GO:0042803[protein homodimerization activity] GO:0044547[DNA topoisomerase binding] GO:0044774[mitotic DNA integrity checkpoint signaling] GO:0046872[metal ion binding] GO:0046975[histone H3K36 methyltransferase activity] GO:0051568[histone H3-K4 methylation] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0097676[histone H3-K36 dimethylation] GO:0140954[] GO:2000373[positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining] GO:2001251[negative regulation of chromosome organization]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000014[single-stranded DNA endodeoxyribonuclease activity] GO:0000729[DNA double-strand break processing] GO:0000737[DNA catabolic process, endonucleolytic] GO:0000793[condensed chromosome] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003690[double-stranded DNA binding] GO:0003697[single-stranded DNA binding] GO:0003824[catalytic activity] GO:0004518[nuclease activity] GO:0004519[endonuclease activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005730[nucleolus] GO:0006281[DNA repair] GO:0006303[double-strand break repair via nonhomologous end joining] GO:0006325[chromatin organization] GO:0006974[cellular response to DNA damage stimulus] GO:0008152[metabolic process] GO:0008168[methyltransferase activity] GO:0008270[zinc ion binding] GO:0008283[cell population proliferation] GO:0015074[DNA integration] GO:0016740[transferase activity] GO:0016787[hydrolase activity] GO:0018024[histone-lysine N-methyltransferase activity] GO:0031297[replication fork processing] GO:0032259[methylation] GO:0034968[histone lysine methylation] GO:0035861[site of double-strand break] GO:0042800[histone methyltransferase activity (H3-K4 specific)] GO:0042803[protein homodimerization activity] GO:0044547[DNA topoisomerase binding] GO:0044774[mitotic DNA integrity checkpoint signaling] GO:0046872[metal ion binding] GO:0046975[histone H3K36 methyltransferase activity] GO:0051568[histone H3-K4 methylation] GO:0090305[nucleic acid phosphodiester bond hydrolysis] GO:0097676[histone H3-K36 dimethylation] GO:0140954[] GO:2000373[positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity] GO:2001034[positive regulation of double-strand break repair via nonhomologous end joining] GO:2001251[negative regulation of chromosome organization]
The Human Protein Atlas project is funded
