Seroatlas · Human Serome Atlas

SET

Protein SET

Also known as: 2PP2A, IGAAD, IPP2A2, PHAPII, SET_HUMAN, TAF-I, TAF-IBETA

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

Protein identityUniProt · HPA

UniProt accession: Q01105
Gene: SET
Ensembl: ENSG00000119335
Chromosome: 9
Canonical length: 290 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Lipid droplets
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

290 residues, UniProt reviewed canonical sequence.

>Q01105|SET
     1  MAPKRQSPLP PQKKKPRPPP ALGPEETSAS AGLPKKGEKE QQEAIEHIDE VQNEIDRLNE
    61  QASEEILKVE QKYNKLRQPF FQKRSELIAK IPNFWVTTFV NHPQVSALLG EEDEEALHYL
   121  TRVEVTEFED IKSGYRIDFY FDENPYFENK VLSKEFHLNE SGDPSSKSTE IKWKSGKDLT
   181  KRSSQTQNKA SRKRQHEEPE SFFTWFTDHS DAGADELGEV IKDDIWPNPL QYYLVPDMDD
   241  EEGEGEEDDD DDEEEEGLED IDEEGDEDEG EEDEDDDEGE EGEEDEGEDD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SET 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): 0.47
Highest tissue expression: 271 nTPM

Expression across tissuesHPA

Tissue

tonsil: 271 nTPM
lymph node: 249 nTPM
thymus: 236 nTPM
bone marrow: 204 nTPM
urinary bladder: 185 nTPM
placenta: 172 nTPM

Single-cell type

gastric progenitor cells: 681 nCPM
megakaryocyte progenitors: 668 nCPM
basal keratinocytes: 586 nCPM
erythrocyte progenitors: 539 nCPM
ocular epithelial cells: 528 nCPM
migrating cytotrophoblasts: 490 nCPM

Immune cell

plasmacytoid DC: 222 nTPM
naive B-cell: 158 nTPM
memory B-cell: 150 nTPM
intermediate monocyte: 135 nTPM
total PBMC: 127 nTPM
classical monocyte: 125 nTPM

Brain region

white matter: 194 nTPM
spinal cord: 192 nTPM
basal ganglia: 172 nTPM
thalamus: 160 nTPM
midbrain: 158 nTPM
medulla oblongata: 157 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SET.

Disease | AllUniProt

Conditions SET is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal dominant 58 (MRD58) MIM:618106

Disease | GeneticClinVar

41 pathogenic / likely-pathogenic of 138 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal dominant 58
Inborn genetic diseases
Global developmental delay
Intellectual disability
SET-related disorder

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): 0.18
gnomAD pLI: 1
gnomAD missense Z: 2.66
DepMap mean gene effect: -0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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