Seroatlas · Human Serome Atlas

MECOM

Histone-lysine N-methyltransferase MECOM

Also known as: EVI1, KMT8E, MDS1, MDS1-EVI1, MECOM_HUMAN, PRDM3

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

Protein identityUniProt · HPA

UniProt accession: Q03112
Gene: MECOM
Ensembl: ENSG00000085276
Chromosome: 3
Canonical length: 1230 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transcription factors
Subcellular location: Nuclear speckles
Quaternary structure: Homooligomer

OverviewNCBI Gene

The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

Canonical amino-acid sequenceUniProt

1230 residues, UniProt reviewed canonical sequence.

>Q03112|MECOM
     1  MRSKGRARKL ATNNECVYGN YPEIPLEEMP DADGVASTPS LNIQEPCSPA TSSEAFTPKE
    61  GSPYKAPIYI PDDIPIPAEF ELRESNMPGA GLGIWTKRKI EVGEKFGPYV GEQRSNLKDP
   121  SYGWEILDEF YNVKFCIDAS QPDVGSWLKY IRFAGCYDQH NLVACQINDQ IFYRVVADIA
   181  PGEELLLFMK SEDYPHETMA PDIHEERQYR CEDCDQLFES KAELADHQKF PCSTPHSAFS
   241  MVEEDFQQKL ESENDLQEIH TIQECKECDQ VFPDLQSLEK HMLSHTEERE YKCDQCPKAF
   301  NWKSNLIRHQ MSHDSGKHYE CENCAKVFTD PSNLQRHIRS QHVGARAHAC PECGKTFATS
   361  SGLKQHKHIH SSVKPFICEV CHKSYTQFSN LCRHKRMHAD CRTQIKCKDC GQMFSTTSSL
   421  NKHRRFCEGK NHFAAGGFFG QGISLPGTPA MDKTSMVNMS HANPGLADYF GANRHPAGLT
   481  FPTAPGFSFS FPGLFPSGLY HRPPLIPASS PVKGLSSTEQ TNKSQSPLMT HPQILPATQD
   541  ILKALSKHPS VGDNKPVELQ PERSSEERPF EKISDQSESS DLDDVSTPSG SDLETTSGSD
   601  LESDIESDKE KFKENGKMFK DKVSPLQNLA SINNKKEYSN HSIFSPSLEE QTAVSGAVND
   661  SIKAIASIAE KYFGSTGLVG LQDKKVGALP YPSMFPLPFF PAFSQSMYPF PDRDLRSLPL
   721  KMEPQSPGEV KKLQKGSSES PFDLTTKRKD EKPLTPVPSK PPVTPATSQD QPLDLSMGSR
   781  SRASGTKLTE PRKNHVFGGK KGSNVESRPA SDGSLQHARP TPFFMDPIYR VEKRKLTDPL
   841  EALKEKYLRP SPGFLFHPQM SAIENMAEKL ESFSALKPEA SELLQSVPSM FNFRAPPNAL
   901  PENLLRKGKE RYTCRYCGKI FPRSANLTRH LRTHTGEQPY RCKYCDRSFS ISSNLQRHVR
   961  NIHNKEKPFK CHLCDRCFGQ QTNLDRHLKK HENGNMSGTA TSSPHSELES TGAILDDKED
  1021  AYFTEIRNFI GNSNHGSQSP RNVEERMNGS HFKDEKALVT SQNSDLLDDE EVEDEVLLDE
  1081  EDEDNDITGK TGKEPVTSNL HEGNPEDDYE ETSALEMSCK TSPVRYKEEE YKSGLSALDH
  1141  IRHFTDSLKM RKMEDNQYSE AELSSFSTSH VPEELKQPLH RKSKSQAYAM MLSLSDKESL
  1201  HSTSHSSSNV WHSMARAAAE SSAIQSISHV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MECOM 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): 0.59
Highest tissue expression: 69 nTPM

Expression across tissuesHPA

Tissue

stomach: 69 nTPM
kidney: 39 nTPM
urinary bladder: 28 nTPM
rectum: 28 nTPM
lung: 24 nTPM
colon: 23 nTPM

Single-cell type

renal connecting tubule cells: 6,139 nCPM
distal convoluted tubule cells: 5,677 nCPM
renal collecting duct principal cells: 4,489 nCPM
loop of henle epithelial cells: 3,085 nCPM
pituicytes/fscs: 2,987 nCPM
renal collecting duct intercalated cells: 2,596 nCPM

Immune cell

plasmacytoid DC: 1.6 nTPM
basophil: 0.8 nTPM
myeloid DC: 0.5 nTPM
classical monocyte: 0.4 nTPM
NK-cell: 0.4 nTPM
non-classical monocyte: 0.4 nTPM

Brain region

medulla oblongata: 32 nTPM
pons: 32 nTPM
thalamus: 31 nTPM
cerebellum: 30 nTPM
cerebral cortex: 29 nTPM
amygdala: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MECOM.

Disease | AllUniProt

Conditions MECOM is implicated in, by any mechanism.

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) MIM:616738

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 1,742 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
MECOM-associated syndrome
Radioulnar synostosis
MECOM-related disorder
Thrombocytopenia

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): 0.14
gnomAD pLI: 1
gnomAD missense Z: 1.62
DepMap mean gene effect: -0.02
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 MECOM 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 MECOM as an antibody target. Whether an autoantibody or antibody against MECOM could matter depends on whether native MECOM is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

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

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