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SETDB1

GENERAL INFORMATION

Gene name

 SETDB1

Gene description

 SET domain, bifurcated 1

Protein class

 Cancer-related genes
Enzymes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Mainly nuclear expression in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA018142
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 SETDB1 (HGNC Symbol)

Synonyms

 ESET, KG1T, KIAA0067, KMT1E, TDRD21

Description

 SET domain, bifurcated 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 1

Cytoband

 q21.3

Chromosome location (bp)

 150926263 - 150964744

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000143379 (version 83.38)

Entrez gene

 9869

UniProt

 Q15047 (UniProt - Evidence at protein level)

neXtProt

 NX_Q15047

Antibodypedia

 SETDB1 antibodies

PROTEIN BROWSER
SETDB1-001
SETDB1-002
SETDB1-005
SETDB1-006
SETDB1-008
SETDB1-009
SETDB1-012
SETDB1-013
SETDB1-014

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SETDB1-001
ENSP00000271640
ENST00000271640
Q15047 [Direct mapping]
Histone-lysine N-methyltransferase SETDB1
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Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000790 [nuclear chromatin]
GO:0001833 [inner cell mass cell proliferation]
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0033273 [response to vitamin]
GO:0034968 [histone lysine methylation]
GO:0036124 [histone H3-K9 trimethylation]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0045471 [response to ethanol]
GO:0060348 [bone development]
Show all
 1291 aa
143.2 kDa 		No 0
SETDB1-002
ENSP00000357958
ENST00000368962
Q15047 [Direct mapping]
Histone-lysine N-methyltransferase SETDB1
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0043231 [intracellular membrane-bounded organelle]
Show all
 397 aa
44.7 kDa 		No 1
SETDB1-005
ENSP00000432348
ENST00000498193
E9PRF4 [Direct mapping]
Histone-lysine N-methyltransferase SETDB1
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005694 [chromosome]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0008270 [zinc ion binding]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0034968 [histone lysine methylation]
GO:0043231 [intracellular membrane-bounded organelle]
Show all
 1259 aa
139.4 kDa 		No 0
SETDB1-006
ENSP00000435922
ENST00000525956
E9PS59 [Direct mapping]
Histone-lysine N-methyltransferase SETDB1
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
 163 aa
18.2 kDa 		No 0
SETDB1-008
ENSP00000407831
ENST00000423081
X6RHV1 [Direct mapping]
Histone-lysine N-methyltransferase SETDB1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
 151 aa
17.1 kDa 		No 0
SETDB1-009
ENSP00000357959
ENST00000368963
X6R732 [Direct mapping]
Histone-lysine N-methyltransferase SETDB1
Show all
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
 249 aa
27.7 kDa 		No 0
SETDB1-012
ENSP00000409379
ENST00000448029
B0QZE6 [Direct mapping]
Histone-lysine N-methyltransferase SETDB1
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
 156 aa
17.4 kDa 		No 0
SETDB1-013
ENSP00000436148
ENST00000534805
E9PQM8 [Direct mapping]
Histone-lysine N-methyltransferase SETDB1
Show all
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
Show all
 636 aa
71 kDa 		No 0
SETDB1-014
ENSP00000357965
ENST00000368969
Q15047 [Direct mapping]
Histone-lysine N-methyltransferase SETDB1
Show all
Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006325 [chromatin organization]
GO:0006351 [transcription, DNA-templated]
GO:0008270 [zinc ion binding]
GO:0018024 [histone-lysine N-methyltransferase activity]
GO:0034968 [histone lysine methylation]
GO:0043231 [intracellular membrane-bounded organelle]
Show all
 1290 aa
143 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.