Seroatlas · Human Serome Atlas

EZH1

Histone-lysine N-methyltransferase EZH1

Also known as: EZH1_HUMAN, KIAA0388, KMT6B

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

Protein identityUniProt · HPA

UniProt accession
Q92800
Gene
EZH1
Ensembl
ENSG00000108799
Chromosome
17
Canonical length
747 aa
Protein class
Cancer-related genes, Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009]

Canonical amino-acid sequenceUniProt

747 residues, UniProt reviewed canonical sequence.

>Q92800|EZH1
     1  MEIPNPPTSK CITYWKRKVK SEYMRLRQLK RLQANMGAKA LYVANFAKVQ EKTQILNEEW
    61  KKLRVQPVQS MKPVSGHPFL KKCTIESIFP GFASQHMLMR SLNTVALVPI MYSWSPLQQN
   121  FMVEDETVLC NIPYMGDEVK EEDETFIEEL INNYDGKVHG EEEMIPGSVL ISDAVFLELV
   181  DALNQYSDEE EEGHNDTSDG KQDDSKEDLP VTRKRKRHAI EGNKKSSKKQ FPNDMIFSAI
   241  ASMFPENGVP DDMKERYREL TEMSDPNALP PQCTPNIDGP NAKSVQREQS LHSFHTLFCR
   301  RCFKYDCFLH PFHATPNVYK RKNKEIKIEP EPCGTDCFLL LEGAKEYAML HNPRSKCSGR
   361  RRRRHHIVSA SCSNASASAV AETKEGDSDR DTGNDWASSS SEANSRCQTP TKQKASPAPP
   421  QLCVVEAPSE PVEWTGAEES LFRVFHGTYF NNFCSIARLL GTKTCKQVFQ FAVKESLILK
   481  LPTDELMNPS QKKKRKHRLW AAHCRKIQLK KDNSSTQVYN YQPCDHPDRP CDSTCPCIMT
   541  QNFCEKFCQC NPDCQNRFPG CRCKTQCNTK QCPCYLAVRE CDPDLCLTCG ASEHWDCKVV
   601  SCKNCSIQRG LKKHLLLAPS DVAGWGTFIK ESVQKNEFIS EYCGELISQD EADRRGKVYD
   661  KYMSSFLFNL NNDFVVDATR KGNKIRFANH SVNPNCYAKV VMVNGDHRIG IFAKRAIQAG
   721  EELFFDYRYS QADALKYVGI ERETDVL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EZH1 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)
0.42
Highest tissue expression
124 nTPM

Expression across tissuesHPA

Tissue

  • retina: 124 nTPM
  • cerebellum: 72 nTPM
  • ovary: 46 nTPM
  • skeletal muscle: 41 nTPM
  • blood vessel: 39 nTPM
  • adipose tissue: 38 nTPM

Single-cell type

  • rod photoreceptor cells: 267 nCPM
  • adipocytes: 117 nCPM
  • fibro-adipogenic progenitors: 115 nCPM
  • myonuclei: 106 nCPM
  • neutrophils: 103 nCPM
  • corticotrophs: 102 nCPM

Immune cell

  • neutrophil: 20 nTPM
  • basophil: 14 nTPM
  • MAIT T-cell: 8.2 nTPM
  • eosinophil: 7.8 nTPM
  • naive CD4 T-cell: 7.7 nTPM
  • plasmacytoid DC: 6.4 nTPM

Brain region

  • cerebellum: 61 nTPM
  • white matter: 57 nTPM
  • pons: 57 nTPM
  • cerebral cortex: 52 nTPM
  • basal ganglia: 51 nTPM
  • medulla oblongata: 50 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EZH1.

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 100 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • EZH1-neurodevelopmental syndrome
  • EZH1-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)
0.42
gnomAD pLI
0.04
gnomAD missense Z
4.2
DepMap mean gene effect
-0.13
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 EZH1 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 EZH1 as an antibody target. Whether an autoantibody or antibody against EZH1 could matter depends on whether native EZH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EZH1 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 EZH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EZH1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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