Seroatlas · Human Serome Atlas

EMG1

Ribosomal RNA small subunit methyltransferase NEP1

Also known as: C2F, Grcc2f, NEP1, NEP1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q92979
Gene
EMG1
Ensembl
ENSG00000126749
Chromosome
12
Canonical length
244 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nucleoli rim,Mitotic chromosome
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

244 residues, UniProt reviewed canonical sequence.

>Q92979|EMG1
     1  MAAPSDGFKP RERSGGEQAQ DWDALPPKRP RLGAGNKIGG RRLIVVLEGA SLETVKVGKT
    61  YELLNCDKHK SILLKNGRDP GEARPDITHQ SLLMLMDSPL NRAGLLQVYI HTQKNVLIEV
   121  NPQTRIPRTF DRFCGLMVQL LHKLSVRAAD GPQKLLKVIK NPVSDHFPVG CMKVGTSFSI
   181  PVVSDVRELV PSSDPIVFVV GAFAHGKVSV EYTEKMVSIS NYPLSAALTC AKLTTAFEEV
   241  WGVI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EMG1 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)
0.32
Highest tissue expression
36 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 36 nTPM
  • liver: 22 nTPM
  • heart muscle: 21 nTPM
  • skeletal muscle: 20 nTPM
  • esophagus: 20 nTPM
  • kidney: 19 nTPM

Single-cell type

  • migrating cytotrophoblasts: 73 nCPM
  • extravillous trophoblasts: 68 nCPM
  • differentiating spermatogonia: 55 nCPM
  • cytotrophoblasts: 53 nCPM
  • decidual stromal cells: 45 nCPM
  • syncytiotrophoblasts: 40 nCPM

Immune cell

  • naive B-cell: 88 nTPM
  • non-classical monocyte: 87 nTPM
  • memory B-cell: 86 nTPM
  • total PBMC: 81 nTPM
  • naive CD4 T-cell: 75 nTPM
  • naive CD8 T-cell: 69 nTPM

Brain region

  • choroid plexus: 16 nTPM
  • white matter: 14 nTPM
  • pons: 13 nTPM
  • spinal cord: 13 nTPM
  • cerebellum: 12 nTPM
  • medulla oblongata: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EMG1.

Disease | AllUniProt

Conditions EMG1 is implicated in, by any mechanism.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 36 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Bowen-Conradi syndrome

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)
1.25
gnomAD pLI
0
gnomAD missense Z
-0.3

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 EMG1 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 EMG1 as an antibody target. Whether an autoantibody or antibody against EMG1 could matter depends on whether native EMG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EMG1 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 EMG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EMG1. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...