Seroatlas · Human Serome Atlas

SETD6

N-lysine methyltransferase SETD6

Also known as: FLJ21148, SETD6_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8TBK2
Gene: SETD6
Ensembl: ENSG00000103037
Chromosome: 16
Canonical length: 473 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol
Quaternary structure: Homotrimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

473 residues, UniProt reviewed canonical sequence.

>Q8TBK2|SETD6
     1  MATQAKRPRV AGPVDGGDLD PVACFLSWCR RVGLELSPKV SERAGGRRTR GGARAALTSP
    61  PAQVAVSRQG TVAGYGMVAR ESVQAGELLF VVPRAALLSQ HTCSIGGLLE RERVALQSQS
   121  GWVPLLLALL HELQAPASRW RPYFALWPEL GRLEHPMFWP EEERRCLLQG TGVPEAVEKD
   181  LANIRSEYQS IVLPFMEAHP DLFSLRVRSL ELYHQLVALV MAYSFQEPLE EEEDEKEPNS
   241  PVMVPAADIL NHLANHNANL EYSANCLRMV ATQPIPKGHE IFNTYGQMAN WQLIHMYGFV
   301  EPYPDNTDDT ADIQMVTVRE AALQGTKTEA ERHLVYERWD FLCKLEMVGE EGAFVIGREE
   361  VLTEEELTTT LKVLCMPAEE FRELKDQDGG GDDKREEGSL TITNIPKLKA SWRQLLQNSV
   421  LLTLQTYATD LKTDQGLLSN KEVYAKLSWR EQQALQVRYG QKMILHQLLE LTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SETD6 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): 0.3
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 21 nTPM
pancreas: 16 nTPM
liver: 12 nTPM
skin: 12 nTPM
esophagus: 12 nTPM
skeletal muscle: 12 nTPM

Single-cell type

cardiomyocytes: 53 nCPM
adrenal medulla cells: 53 nCPM
epicardial cells: 52 nCPM
adrenal cortex cells: 39 nCPM
epididymal principal cells: 39 nCPM
epididymal basal cells: 37 nCPM

Immune cell

NK-cell: 4.5 nTPM
basophil: 2.5 nTPM
naive CD8 T-cell: 2.3 nTPM
memory CD8 T-cell: 2.2 nTPM
gdT-cell: 2.1 nTPM
naive CD4 T-cell: 2 nTPM

Brain region

cerebellum: 17 nTPM
cerebral cortex: 6.8 nTPM
choroid plexus: 6.4 nTPM
hippocampal formation: 6.4 nTPM
pons: 6.4 nTPM
hypothalamus: 6.3 nTPM

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): 1.63
gnomAD pLI: 0
gnomAD missense Z: -0.39
DepMap mean gene effect: -0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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
Rubisco LSMT, substrate-binding domain
Rubisco LSMT, substrate-binding domain superfamily
SET domain superfamily
SETD3/SETD6 methyltransferase
SET domain
Rubisco LSMT substrate-binding
N-lysine methyltransferase SETD6
SETD6, SET domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SETD6 as an antibody target. Whether an autoantibody or antibody against SETD6 could matter depends on whether native SETD6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SETD6 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 SETD6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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