SETD6 - SET domain containing 6, protein lysine methyltransferase Gene

Homo sapiens

Gene ID: 79918 | Gene type: protein coding

About SETD6

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:58,515,479-58,523,842 (from NCBI)

This gene has 13 transcripts (splice variants), 195 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 13.6), skin (RPKM 9.3) and 25 other tissues.

Summary

This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

SETD6 Products(2)

mRNA	Protein	Name
NM_001160305.4	NP_001153777.1	N-lysine methyltransferase SETD6 isoform a
NM_024860.3	NP_079136.2	N-lysine methyltransferase SETD6 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables NF-kappaB binding	IPI IPI: Inferred from physical interaction	21131967	GOA
enables S-adenosyl-L-methionine binding	IDA IDA: Inferred from direct assay	21515635	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21131967	GOA
enables protein-lysine N-methyltransferase activity	IDA IDA: Inferred from direct assay	21131967	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of NF-kappaB transcription factor activity	IMP IMP: Inferred from mutant phenotype	21131967	GOA
involved in peptidyl-lysine monomethylation	IDA IDA: Inferred from direct assay	21131967	GOA
involved in regulation of inflammatory response	IMP IMP: Inferred from mutant phenotype	21131967	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	21131967	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

SETD6 Protein Structure

SET

Rubis-subs-bind

0
100
200
300
400
473 a.a.

Protein Preferred Names

Protein Names

N-lysine methyltransferase SETD6

SET domain-containing protein 6

Related Diseases

Diseases

Alias

Immunodeficiency 30

Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12rb1 Deficiency	IMD30
Il12rb1 Deficiency	Mendelian Susceptibility To Interleukin 12 Receptor Beta 1 Deficiency
Msmd Due To Complete Il12rb1 Deficiency	Msmd Due To Complete Interleukin 12 Receptor Beta 1 Deficiency
Il-12râ1 Deficiency	Mendelian Susceptibility To Mycobacterial Infections Due To Il12 Deficiency
Immunodeficiency, Type 30

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-RS12746	SETD6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SETD6	MGD	MGI:1913333
Macaca mulatta	SETD6	VGNC	VGNC:77313
Felis catus	SETD6	VGNC	VGNC:65045
Canis familiaris	SETD6	VGNC	VGNC:46057
Rattus norvegicus	SETD6	RGD	RGD:1560538
Bos taurus	SETD6	VGNC	VGNC:34496

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