Seroatlas · Human Serome Atlas

SETDB1

Histone-lysine N-methyltransferase SETDB1

Also known as: ESET, KG1T, KIAA0067, KMT1E, SETB1_HUMAN, TDRD21

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q15047
Gene: SETDB1
Ensembl: ENSG00000143379
Chromosome: 1
Canonical length: 1291 aa
Protein class: Cancer-related genes, Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1291 residues, UniProt reviewed canonical sequence.

>Q15047|SETDB1
     1  MSSLPGCIGL DAATATVESE EIAELQQAVV EELGISMEEL RHFIDEELEK MDCVQQRKKQ
    61  LAELETWVIQ KESEVAHVDQ LFDDASRAVT NCESLVKDFY SKLGLQYRDS SSEDESSRPT
   121  EIIEIPDEDD DVLSIDSGDA GSRTPKDQKL REAMAALRKS AQDVQKFMDA VNKKSSSQDL
   181  HKGTLSQMSG ELSKDGDLIV SMRILGKKRT KTWHKGTLIA IQTVGPGKKY KVKFDNKGKS
   241  LLSGNHIAYD YHPPADKLYV GSRVVAKYKD GNQVWLYAGI VAETPNVKNK LRFLIFFDDG
   301  YASYVTQSEL YPICRPLKKT WEDIEDISCR DFIEEYVTAY PNRPMVLLKS GQLIKTEWEG
   361  TWWKSRVEEV DGSLVRILFL DDKRCEWIYR GSTRLEPMFS MKTSSASALE KKQGQLRTRP
   421  NMGAVRSKGP VVQYTQDLTG TGTQFKPVEP PQPTAPPAPP FPPAPPLSPQ AGDSDLESQL
   481  AQSRKQVAKK STSFRPGSVG SGHSSPTSPA LSENVSGGKP GINQTYRSPL GSTASAPAPS
   541  ALPAPPAPPV FHGMLERAPA EPSYRAPMEK LFYLPHVCSY TCLSRVRPMR NEQYRGKNPL
   601  LVPLLYDFRR MTARRRVNRK MGFHVIYKTP CGLCLRTMQE IERYLFETGC DFLFLEMFCL
   661  DPYVLVDRKF QPYKPFYYIL DITYGKEDVP LSCVNEIDTT PPPQVAYSKE RIPGKGVFIN
   721  TGPEFLVGCD CKDGCRDKSK CACHQLTIQA TACTPGGQIN PNSGYQYKRL EECLPTGVYE
   781  CNKRCKCDPN MCTNRLVQHG LQVRLQLFKT QNKGWGIRCL DDIAKGSFVC IYAGKILTDD
   841  FADKEGLEMG DEYFANLDHI ESVENFKEGY ESDAPCSSDS SGVDLKDQED GNSGTEDPEE
   901  SNDDSSDDNF CKDEDFSTSS VWRSYATRRQ TRGQKENGLS ETTSKDSHPP DLGPPHIPVP
   961  PSIPVGGCNP PSSEETPKNK VASWLSCNSV SEGGFADSDS HSSFKTNEGG EGRAGGSRME
  1021  AEKASTSGLG IKDEGDIKQA KKEDTDDRNK MSVVTESSRN YGYNPSPVKP EGLRRPPSKT
  1081  SMHQSRRLMA SAQSNPDDVL TLSSSTESEG ESGTSRKPTA GQTSATAVDS DDIQTISSGS
  1141  EGDDFEDKKN MTGPMKRQVA VKSTRGFALK STHGIAIKST NMASVDKGES APVRKNTRQF
  1201  YDGEESCYII DAKLEGNLGR YLNHSCSPNL FVQNVFVDTH DLRFPWVAFF ASKRIRAGTE
  1261  LTWDYNYEVG SVEGKELLCC CGAIECRGRL L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SETDB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

testis: 21 nTPM
thymus: 17 nTPM
tonsil: 16 nTPM
spleen: 16 nTPM
endometrium: 15 nTPM
lymph node: 15 nTPM

Single-cell type

myonuclei: 83 nCPM
sertoli cells: 74 nCPM
adrenal cortex cells: 62 nCPM
fibro-adipogenic progenitors: 61 nCPM
retinal horizontal cells: 58 nCPM
tuft cells: 58 nCPM

Immune cell

intermediate monocyte: 11 nTPM
myeloid DC: 8.7 nTPM
non-classical monocyte: 7.9 nTPM
classical monocyte: 7.1 nTPM
naive B-cell: 6.7 nTPM
basophil: 6.6 nTPM

Brain region

cerebellum: 21 nTPM
choroid plexus: 17 nTPM
white matter: 17 nTPM
cerebral cortex: 15 nTPM
medulla oblongata: 15 nTPM
thalamus: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SETDB1.

Disease | ImmuneIEDB

Conditions an epitope on SETDB1 was assayed in.

hepatocellular carcinoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.2
gnomAD pLI: 1
gnomAD missense Z: 4.01
DepMap mean gene effect: -0.4
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 18% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

SET domain
Methyl-CpG DNA binding
Tudor domain
Post-SET domain
Pre-SET domain
DNA-binding domain superfamily
SET domain superfamily
Histone-lysine N-methyltransferase SETDB1/2-like, methyl-CpG binding domains
Histone-lysine N-methyltransferase SETDB
SET domain
Methyl-CpG binding domain
Pre-SET motif
Histone-lysine N-methyltransferase SETDB1
Domain of unknown function DUF5604
Histone methyltransferase, Tudor domain 1
Histone methyltransferase, Tudor domain 2
Domain of unknown function (DUF5604)
Histone methyltransferase Tudor domain
Histone methyltransferase Tudor domain 1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SETDB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SETDB1 as an antibody target. Whether an autoantibody or antibody against SETDB1 could matter depends on whether native SETDB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SETDB1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SETDB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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