SETDB1 - SET domain bifurcated histone lysine methyltransferase 1 Gene

Homo sapiens

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

Gene ID: 9869 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in positive regulation of DNA methylation-dependent heterochromatin formation	IMP IMP: Inferred from mutant phenotype	24623306	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-141539	SETDB1-TTD-IN-1		99.61%	Unkown
HY-141539A	SETDB1-TTD-IN-1 TFA		98.79%	Unkown
HY-RS12748	SETDB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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