SETDB1 - SET domain bifurcated histone lysine methyltransferase 1 Gene

Also Known as ESET; KG1T; KMT1E; TDRD21; H3-K9-HMTase4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9869

About SETDB1

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:150,926,263-150,964,737 (from NCBI)

This gene has 20 transcripts (splice variants), 246 orthologues, 19 paralogues and is associated with 79 phenotypes. Ubiquitous expression in testis (RPKM 14.6), spleen (RPKM 8.9) and 25 other tissues.

Summary

This gene encodes a Histone Methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]

SETDB1 Products (14)

mRNA	Protein	Name
NM_001145415.2	NP_001138887.1	histone-lysine N-methyltransferase SETDB1 isoform 1
NM_001243491.2	NP_001230420.1	histone-lysine N-methyltransferase SETDB1 isoform 3
NM_001366417.1	NP_001353346.1	histone-lysine N-methyltransferase SETDB1 isoform 4
NM_001366418.1	NP_001353347.1	histone-lysine N-methyltransferase SETDB1 isoform 4
NM_001393958.1	NP_001380887.1	histone-lysine N-methyltransferase SETDB1 isoform 4
NM_001393959.1	NP_001380888.1	histone-lysine N-methyltransferase SETDB1 isoform 4
NM_001393960.1	NP_001380889.1	histone-lysine N-methyltransferase SETDB1 isoform 1
NM_001393961.1	NP_001380890.1	histone-lysine N-methyltransferase SETDB1 isoform 5
NM_001393964.1	NP_001380893.1	histone-lysine N-methyltransferase SETDB1 isoform 3
NM_001393965.1	NP_001380894.1	histone-lysine N-methyltransferase SETDB1 isoform 3
NM_001393966.1	NP_001380895.1	histone-lysine N-methyltransferase SETDB1 isoform 3
NM_001393967.1	NP_001380896.1	histone-lysine N-methyltransferase SETDB1 isoform 6
NM_001393968.1	NP_001380897.1	histone-lysine N-methyltransferase SETDB1 isoform 6
NM_012432.4	NP_036564.3	histone-lysine N-methyltransferase SETDB1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	27029610	GOA
enables histone H3K9 methyltransferase activity	IDA IDA: Inferred from direct assay	14536086	GOA
enables histone H3K9 trimethyltransferase activity	IDA IDA: Inferred from direct assay	14536086	GOA
enables promoter-specific chromatin binding	IDA IDA: Inferred from direct assay	24623306	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16682412	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of DNA methylation-dependent heterochromatin formation	IMP IMP: Inferred from mutant phenotype	24623306	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	27732843	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	27732843	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

SETDB1 Protein Structure

MBD

Pre-SET

SET

0
200
400
600
800
1000
1200
1291 a.a.

Protein Preferred Names	Protein Names
histone-lysine N-methyltransferase SETDB1	ERG-associated protein with a SET domain, ESET

SETDB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SETDB1	Q15047	MPHOSPH8	Homo sapiens	Q99549	Anti Bait CoIP	26022416
Intra	SETDB1	Q15047	MPHOSPH8	Homo sapiens	Q99549	Anti Bait CoIP	20871592
Intra	SETDB1	Q15047	AKT1	Homo sapiens	P31749	Pull Down	17577629
Intra	SETDB1	Q15047	AKT1	Homo sapiens	P31749	Y2H	17577629
Intra	SETDB1	Q15047	AKT1	Homo sapiens	P31749	Anti Bait CoIP	17577629
Intra	SETDB1	Q15047	AKT1	Homo sapiens	P31749	Anti Tag CoIP	17577629
Intra	SETDB1	Q15047	MCUB	Homo sapiens	Q9NWR8	Anti Tag CoIP	33961781
Intra	SETDB1	Q15047	MBD1	Homo sapiens	Q9UIS9	Y2H	17066076
Intra	SETDB1	Q15047	DNMT3A	Homo sapiens	Q9Y6K1	IF	16682412
Intra	SETDB1	Q15047	DNMT3A	Homo sapiens	Q9Y6K1	Anti Tag CoIP	16682412
Intra	SETDB1	Q15047	DNMT3A	Homo sapiens	Q9Y6K1	Pull Down	16682412

Cross: Cross-species interaction Intra: Intraspecies interaction

SETDB1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84580	SETDB1/ESET Antibody (YA4277)	WB, ICC/IF, ELISA	Human, Mouse, Monkey
HY-P84580A	SETDB1/ESET Antibody (YA4277)(PBS only)	WB, ICC/IF, ELISA	Human, Mouse, Monkey
HY-P85154	SETDB1/ESET Antibody (YA4846)	WB, ICC/IF, ELISA	Human, Mouse, Monkey

Related Diseases

Diseases	Alias
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Hyperoxaluria, Primary, Type I	Primary Hyperoxaluria Type 1 HP1 Glycolic Aciduria Alanine-Glyoxylate Aminotransferase Deficiency Hepatic Agt Deficiency Oxalosis I Primary Hyperoxaluria, Type I Serine:Pyruvate Aminotransferase Deficiency Hyperoxaluria, Primary, Type 1 Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency Serine Pyruvate Aminotransferase Deficiency Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Oxalosis 1 Hyperoxaluria Primary 1 Hyperoxaluria Primary Type I Ph1 Primary Hyperoxaluria Type I Oxalosis Type 1 2-Oxoglutarate Glyoxylate Carboligase Deficiency
Primary Hyperoxaluria	Hyperoxaluria Hyperoxaluria, Primary Oxalosis Primary Oxalosis Congenital Oxaluria D-Glycerate Dehydrogenase Deficiency Glyceric Aciduria Glycolic Aciduria Hepatic Agt Deficiency Oxaluria, Primary Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency Primary Oxaluria Hyperoxaluria Primary Primary Hyperoxaluria Type 2 Primary Hyperoxaluria, Type I
Prostate Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Prostate
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	Icf Syndrome Immunodeficiency Syndrome, Variable Ciid Centromeric Instability, Immunodeficiency Syndrome Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Icf
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome

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 (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-141539	SETDB1-TTD-IN-1	Activator	99.93%	Unkown
HY-173156	UNC10013	Modulator	99.90%	Unkown
HY-168992A	UNC6535 TFA		/	Unkown
HY-141539A	SETDB1-TTD-IN-1 TFA		99.77%	Unkown
HY-168992	UNC6535	Inhibitor	/	Unkown
HY-181914	UNC7242	Antagonist	/	Unkown
HY-184362	P-SETDB1-4		/	Unkown
HY-RS12748	SETDB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16697	Setdb1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23131	Setdb1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SETDB1	VGNC	VGNC:65048
Bos taurus	SETDB1	VGNC	VGNC:34499
Rattus norvegicus	SETDB1	RGD	RGD:1308370
Macaca mulatta	SETDB1	VGNC	VGNC:100139
Canis familiaris	SETDB1	VGNC	VGNC:46060
Mus musculus	SETDB1	MGD	MGI:1934229
Others	SETDB1	NCBI