SETMAR - SET domain and mariner transposase fusion gene Gene

Homo sapiens

Also known as Mar1; METNASE

Gene ID: 6419 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

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