Seroatlas · Human Serome Atlas

OSGEP

tRNA N6-adenosine threonylcarbamoyltransferase

Also known as: GCPL1, KAE1, OSGEP_HUMAN, OSGEP1, PRSMG1, TCS3

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

Protein identityUniProt · HPA

UniProt accession
Q9NPF4
Gene
OSGEP
Ensembl
ENSG00000092094
Chromosome
14
Canonical length
335 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

Enables N(6)-L-threonylcarbamoyladenine synthase activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleoplasm. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 3. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

335 residues, UniProt reviewed canonical sequence.

>Q9NPF4|OSGEP
     1  MPAVLGFEGS ANKIGVGVVR DGKVLANPRR TYVTPPGTGF LPGDTARHHR AVILDLLQEA
    61  LTESGLTSQD IDCIAYTKGP GMGAPLVSVA VVARTVAQLW NKPLVGVNHC IGHIEMGRLI
   121  TGATSPTVLY VSGGNTQVIA YSEHRYRIFG ETIDIAVGNC LDRFARVLKI SNDPSPGYNI
   181  EQMAKRGKKL VELPYTVKGM DVSFSGILSF IEDVAHRMLA TGECTPEDLC FSLQETVFAM
   241  LVEITERAMA HCGSQEALIV GGVGCNVRLQ EMMATMCQER GARLFATDER FCIDNGAMIA
   301  QAGWEMFRAG HRTPLSDSGV TQRYRTDEVE VTWRD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OSGEP 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)
0.21
Highest tissue expression
10 nTPM

Expression across tissuesHPA

Tissue

  • liver: 10 nTPM
  • choroid plexus: 9.4 nTPM
  • tonsil: 9.4 nTPM
  • thymus: 9.3 nTPM
  • tongue: 9.2 nTPM
  • lymph node: 8.7 nTPM

Single-cell type

  • megakaryocytes: 136 nCPM
  • hofbauer cells: 98 nCPM
  • cytotrophoblasts: 88 nCPM
  • migrating cytotrophoblasts: 74 nCPM
  • myonuclei: 68 nCPM
  • lactotrophs: 60 nCPM

Immune cell

  • myeloid DC: 45 nTPM
  • eosinophil: 39 nTPM
  • naive B-cell: 38 nTPM
  • classical monocyte: 29 nTPM
  • memory B-cell: 29 nTPM
  • intermediate monocyte: 28 nTPM

Brain region

  • white matter: 4.9 nTPM
  • choroid plexus: 4.6 nTPM
  • spinal cord: 4.1 nTPM
  • cerebellum: 3.7 nTPM
  • medulla oblongata: 3.7 nTPM
  • pons: 3.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OSGEP.

Disease | AllUniProt

Conditions OSGEP is implicated in, by any mechanism.

Disease | GeneticClinVar

29 pathogenic / likely-pathogenic of 196 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.08
gnomAD pLI
0
gnomAD missense Z
0.76
DepMap mean gene effect
-1.17
DepMap dependency class
common

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

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

Canonical record: https://seroatlas.com/gene/OSGEP. 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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