SETDB1 (SET domain bifurcated histone lysine methyltransferase 1)

2003-02-01  

Identity

HGNC
SETDB1
LOCATION
1q21.3
LOCUSID
9869
ALIAS
ESET,H3-K9-HMTase4,KG1T,KMT1E,TDRD21
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9869
MIM: 604396
HGNC: 10761
Ensembl: ENSG00000143379

Variants:

dbSNP: 9869
ClinVar: 9869
TCGA: ENSG00000143379
COSMIC: SETDB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143379ENST00000271640Q15047
ENSG00000143379ENST00000368962Q15047
ENSG00000143379ENST00000368963X6R732
ENSG00000143379ENST00000368964E9PAP1
ENSG00000143379ENST00000368969Q15047
ENSG00000143379ENST00000423081X6RHV1
ENSG00000143379ENST00000448029B0QZE6
ENSG00000143379ENST00000498193E9PRF4
ENSG00000143379ENST00000525956E9PS59
ENSG00000143379ENST00000534805E9PQM8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
119598412002SETDB1: a novel KAP-1-associated histone H3, lysine 9-specific methyltransferase that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins.424
214307792011The histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset.201
145360862003mAM facilitates conversion by ESET of dimethyl to trimethyl lysine 9 of histone H3 to cause transcriptional repression.111
250700492014MiR-7, inhibited indirectly by lincRNA HOTAIR, directly inhibits SETDB1 and reverses the EMT of breast cancer stem cells by downregulating the STAT3 pathway.109
166824122006The histone methyltransferase SETDB1 and the DNA methyltransferase DNMT3A interact directly and localize to promoters silenced in cancer cells.103
171423232006ESET/SETDB1 gene expression and histone H3 (K9) trimethylation in Huntington's disease.103
211703382010ZNF274 recruits the histone methyltransferase SETDB1 to the 3' ends of ZNF genes.82
237708552014Gene amplification of the histone methyltransferase SETDB1 contributes to human lung tumorigenesis.51
156918492005Transcriptional repression and heterochromatin formation by MBD1 and MCAF/AM family proteins.49
261434432015HBx relieves chromatin-mediated transcriptional repression of hepatitis B viral cccDNA involving SETDB1 histone methyltransferase.45

Citation

Dessen P

SETDB1 (SET domain bifurcated histone lysine methyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42273/setdb1