SETMAR - SET domain and mariner transposase fusion gene Gene

Also Known as Mar1; METNASE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6419

About SETMAR

Cytogenetic location: 3p26.1 Genomic coordinates (GRCh38): 3:4,303,369-4,317,265 (from NCBI)

This gene has 8 transcripts (splice variants), 78 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 4.0), endometrium (RPKM 3.7) and 25 other tissues.

Summary

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]

SETMAR Products (6)

mRNA	Protein	Name
NM_001243723.2	NP_001230652.1	histone-lysine N-methyltransferase SETMAR isoform 2
NM_001276325.2	NP_001263254.1	histone-lysine N-methyltransferase SETMAR isoform 3
NM_001320676.2	NP_001307605.1	histone-lysine N-methyltransferase SETMAR isoform 5
NM_001320677.2	NP_001307606.1	histone-lysine N-methyltransferase SETMAR isoform 6
NM_001320678.2	NP_001307607.1	histone-lysine N-methyltransferase SETMAR isoform 7
NM_006515.4	NP_006506.3	histone-lysine N-methyltransferase SETMAR isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	20521842	GOA
enables DNA topoisomerase binding	IPI IPI: Inferred from physical interaction	18790802	GOA
enables double-stranded DNA binding	IMP IMP: Inferred from mutant phenotype	24573677	GOA
enables endonuclease activity	IDA IDA: Inferred from direct assay	20620605	GOA
enables endonuclease activity	IMP IMP: Inferred from mutant phenotype	22231448	GOA
enables histone H3K36 dimethyltransferase activity	IDA IDA: Inferred from direct assay	16332963	GOA
enables histone H3K36 methyltransferase activity	IMP IMP: Inferred from mutant phenotype	21187428	GOA
enables histone H3K4 methyltransferase activity	IDA IDA: Inferred from direct assay	16332963	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19390626	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	20521842	GOA
enables single-stranded DNA binding	IMP IMP: Inferred from mutant phenotype	24573677	GOA
enables single-stranded DNA endodeoxyribonuclease activity	IDA IDA: Inferred from direct assay	21491884	GOA
enables single-stranded DNA endodeoxyribonuclease activity	IMP IMP: Inferred from mutant phenotype	24573677	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA catabolic process	IDA IDA: Inferred from direct assay	20521842	GOA
involved in DNA catabolic process	IMP IMP: Inferred from mutant phenotype	24573677	GOA
involved in DNA double-strand break processing	IDA IDA: Inferred from direct assay	21491884	GOA
involved in DNA integration	IMP IMP: Inferred from mutant phenotype	16332963	GOA
involved in cell population proliferation	IMP IMP: Inferred from mutant phenotype	20457750	GOA
involved in double-strand break repair via nonhomologous end joining	IDA IDA: Inferred from direct assay	16332963	GOA
involved in double-strand break repair via nonhomologous end joining	IMP IMP: Inferred from mutant phenotype	18263876	GOA
involved in mitotic DNA integrity checkpoint signaling	IMP IMP: Inferred from mutant phenotype	18790802	GOA
involved in negative regulation of chromosome organization	IDA IDA: Inferred from direct assay	20620605	GOA
involved in nucleic acid metabolic process	IMP IMP: Inferred from mutant phenotype	22231448	GOA
involved in positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity	IDA IDA: Inferred from direct assay	18790802	GOA
involved in positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity	IMP IMP: Inferred from mutant phenotype	20457750	GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining	IDA IDA: Inferred from direct assay	20620605	GOA
involved in replication fork processing	IMP IMP: Inferred from mutant phenotype	20457750	GOA

Cellular Component GO Annotation	Evidence	References	Source
colocalizes with condensed chromosome	IDA IDA: Inferred from direct assay	18790802	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22231448	GOA
located in site of double-strand break	IDA IDA: Inferred from direct assay	18263876	GOA
located in site of double-strand break	IMP IMP: Inferred from mutant phenotype	22231448	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SETMAR Protein Structure

Pre-SET

SET

HTH_Tnp_Tc3_2

Transposase_1

0
200
400
600
684 a.a.

Protein Preferred Names	Protein Names
histone-lysine N-methyltransferase SETMAR	SET domain and mariner transposase fusion gene-containing protein

SETMAR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SETMAR	Q53H47	YJU2	Homo sapiens	Q9BW85	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

SETMAR Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811143	SETMAR Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Sotos Syndrome 3	Sotos3 Sotos Syndrome, Type 3
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12750	SETMAR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SETMAR	VGNC	VGNC:84083
Rattus norvegicus	SETMAR	RGD	RGD:1565882
Mus musculus	SETMAR	MGD	MGI:1921979
Others	SETMAR	NCBI