Seroatlas · Human Serome Atlas

EOGT

EGF domain-specific O-linked N-acetylglucosamine transferase

Also known as: AER61, C3orf64, EOGT_HUMAN, FLJ33770

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

Protein identityUniProt · HPA

UniProt accession: Q5NDL2
Gene: EOGT
Ensembl: ENSG00000163378
Chromosome: 3
Canonical length: 527 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Nuclear membrane,Cytosol
Secretome location: Intracellular and membrane

OverviewNCBI Gene

This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

527 residues, UniProt reviewed canonical sequence.

>Q5NDL2|EOGT
     1  MLMLFVFGVL LHEVSLSGQN EAPPNTHSIP GEPLYNYASI RLPEEHIPFF LHNNRHIATV
    61  CRKDSLCPYK KHLEKLKYCW GYEKSCKPEF RFGYPVCSYV DMGWTDTLES AEDIFWKQAD
   121  FGYARERLEE MHVLCQPKET SDSSLVCSRY LQYCRATNLY LDLRNIKRNH DRFKEDFFQS
   181  GEIGGHCKLD IRTLTSEGQR KSPLQSWFAE LQSYTQLNFR PIEDAKCDIV IEKPTYFMKL
   241  DAGVNMYHHF CDFINLYITQ HVNNSFSTDV YIVMWDTSSY GYGDLFSDTW NAFTDYDVIH
   301  LKTYDSKRVC FKEAVFSLLP RMRYGLFYNT PLISGCQNTG LFRAFAQHVL HRLNITQEGP
   361  KDGKIRVTIL ARSTEYRKIL NQNELVNALK TVSTFEVQIV DYKYRELGFL DQLRITHNTD
   421  IFIGMHGAGL THLLFLPDWA AVFELYNCED ERCYLDLARL RGVHYITWRR QNKVFPQDKG
   481  HHPTLGEHPK FTNYSFDVEE FMYLVLQAAD HVLQHPKWPF KKKHDEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EOGT 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): 0.25
Highest tissue expression: 54 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 54 nTPM
seminal vesicle: 32 nTPM
lung: 27 nTPM
heart muscle: 27 nTPM
endometrium: 26 nTPM
prostate: 26 nTPM

Single-cell type

cardiomyocytes: 141 nCPM
smooth muscle cells: 106 nCPM
salivary myoepithelial cells: 100 nCPM
vascular smooth muscle cells: 82 nCPM
peritubular myoid cells: 76 nCPM
myonuclei: 75 nCPM

Immune cell

T-reg: 6.6 nTPM
basophil: 5.4 nTPM
memory CD8 T-cell: 4.3 nTPM
memory CD4 T-cell: 3 nTPM
naive CD8 T-cell: 2.6 nTPM
naive CD4 T-cell: 2.5 nTPM

Brain region

choroid plexus: 42 nTPM
pons: 12 nTPM
thalamus: 12 nTPM
spinal cord: 11 nTPM
medulla oblongata: 11 nTPM
midbrain: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EOGT.

Disease | AllUniProt

Conditions EOGT is implicated in, by any mechanism.

Adams-Oliver syndrome 4 (AOS4) MIM:615297

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 288 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): 0.99
gnomAD pLI: 0
gnomAD missense Z: -0.09
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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