SETMAR Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SETMAR |
| Official Name | SET domain and mariner transposase fusion gene [Source:HGNC Symbol;Acc:HGNC:10762] |
| Ensembl ID | ENSG00000170364 |
| Bio databases IDs | |
| Aliases | SET domain and mariner transposase fusion gene |
| Synonyms | 5830404F24Rik, Etet2, Mar1, METNASE, SET domain and mariner transposase fusion gene, SET domain without mariner transposase fusion |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SETMAR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- enzyme binding
- enzyme
- protein binding
- HTH_CRP
- single-stranded DNA specific endodeoxyribonuclease
- DNA binding
- endonuclease
- Pre-SET motif
- Homeodomain-like domain
- histone lysine N-methyltransferase activity (H3-K4 specific)
- single-stranded DNA binding
- Transposase (partial DDE domain)
- double-stranded DNA binding
- histone lysine N-methyltransferase activity (H3-K36 specific)
- SET domain
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- protein homodimerization
- HTH domain in Mos1 transposase
- N-terminal to some SET domains
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- spinal osteoarthritis
- preeclampsia
regulated by
- SOX11
- lenalidomide
regulates
- histone H3
- lagging strand of DNA
role in cell
- generation in
- proliferation
- survival
- binding in
- organization
- processing
- initial DNA end resection in
- double-stranded DNA break repair in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromosome
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SETMAR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- nucleic acid metabolic process
- negative regulation of chromosome organization
- DNA double-strand break processing
- positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity
- DNA integration
- double-strand break repair via nonhomologous end joining
- DNA catabolic process
- chromatin remodeling
- replication fork processing
- positive regulation of double-strand break repair via nonhomologous end joining
- methylation
Cellular Component
Where in the cell the gene product is active
- condensed chromosome
- nucleus
- site of double-strand break
- nucleolus
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- DNA binding
- zinc ion binding
- protein homodimerization activity
- protein binding
- endonuclease activity
- double-stranded DNA binding
- histone methyltransferase activity (H3-K36 specific)
- single-stranded DNA specific endodeoxyribonuclease activity
- single-stranded DNA binding
- DNA topoisomerase binding