U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

EOGT EGF domain specific O-linked N-acetylglucosamine transferase [ Homo sapiens (human) ]

Gene ID: 285203, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
EOGTprovided by HGNC
Official Full Name
EGF domain specific O-linked N-acetylglucosamine transferaseprovided by HGNC
Primary source
HGNC:HGNC:28526
See related
Ensembl:ENSG00000163378 MIM:614789; AllianceGenome:HGNC:28526
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AOS4; AER61; EOGT1; C3orf64
Summary
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]
Expression
Ubiquitous expression in lung (RPKM 8.1), prostate (RPKM 7.4) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See EOGT in Genome Data Viewer
Location:
3p14.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (68975225..69013684, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (69011970..69050451, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (69024376..69062835, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:68693138-68693638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:68693639-68694139 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 1 Neighboring gene TAFA chemokine like family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:68859761-68860260 Neighboring gene RNA, 5S ribosomal pseudogene 135 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:68968097-68968699 Neighboring gene Sharpr-MPRA regulatory region 589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14515 Neighboring gene EOGT divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20050 Neighboring gene TATA element modulatory factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14516 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14517 Neighboring gene microRNA 3136 Neighboring gene ubiquitin like modifier activating enzyme 3

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. EOGT Correlated With Immune Infiltration: A Candidate Prognostic Biomarker for Hepatocellular Carcinoma. Shu Y, et al. Front Immunol, 2021. PMID 35069551, Free PMC Article
  2. Extracellular o-linked N-acetylglucosamine is enriched in stem cells derived from human umbilical cord blood. Suila H, et al. Biores Open Access, 2014 Apr 1. PMID 24804163, Free PMC Article
  3. Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. Cohen I, et al. Eur J Hum Genet, 2014 Mar. PMID 23860037, Free PMC Article
  4. Bioinformatics and Functional Analyses Implicate Potential Roles for EOGT and L-fringe in Pancreatic Cancers. Barua R, et al. Molecules, 2021 Feb 7. PMID 33562410, Free PMC Article
  5. The Glycosyltransferase EOGT Regulates Adropin Expression in Decidualizing Human Endometrium. Muter J, et al. Endocrinology, 2018 Feb 1. PMID 29244071

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EOGT Correlated With Immune Infiltration: A Candidate Prognostic Biomarker for Hepatocellular Carcinoma.
    Title: EOGT Correlated With Immune Infiltration: A Candidate Prognostic Biomarker for Hepatocellular Carcinoma.
  2. SHCBP1 interacting with EOGT enhances O-GlcNAcylation of NOTCH1 and promotes the development of pancreatic cancer.
    Title: SHCBP1 interacting with EOGT enhances O-GlcNAcylation of NOTCH1 and promotes the development of pancreatic cancer.
  3. Bioinformatics and Functional Analyses Implicate Potential Roles for EOGT and L-fringe in Pancreatic Cancers.
    Title: Bioinformatics and Functional Analyses Implicate Potential Roles for EOGT and L-fringe in Pancreatic Cancers.
  4. Analysis of midluteal endometrial biopsies revealed an inverse correlation between endometrial EOGT and ENHO expression and body mass index. obesity impairs the EOGT-adropin axis in decidual cells, which in turn points toward a mechanistic link between metabolic disorders and adverse pregnancy outcome.
    Title: The Glycosyltransferase EOGT Regulates Adropin Expression in Decidualizing Human Endometrium.
  5. Eogt resulted in defective retinal angiogenesis, with a mild phenotype similar to that caused by reduced Notch signaling in retina. Combined deficiency of different Notch1 mutant alleles exacerbated the abnormalities in Eogt(-/-) retina, and Notch target gene expression was decreased in Eogt(-/-)endothelial cells.
    Title: O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammals.
  6. Studies provide evidence that mutations in EOGT lead to autosomal recessive Adams-Oliver Syndrome. [review]
    Title: EOGT and O-GlcNAc on secreted and membrane proteins.
  7. c.1074delA mutation segregates with Adams-Oliver syndrome in the Bedouin family.
    Title: Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.
  8. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
    Title: Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Adams-Oliver syndrome 4
MedGen: C3809092 OMIM: 615297 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ13078, FLJ33770, FLJ41219, MGC34132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein O-acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein O-acetylglucosaminyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in protein O-GlcNAcylation via threonine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein O-linked glycosylation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
EGF domain-specific O-linked N-acetylglucosamine transferase
Names
AER61 glycosyltransferase
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EGF-O-GlcNAc transferase
extracellular O-linked N-acetylglucosamine transferase
NP_001265618.1
NP_775925.1
XP_005264800.1
XP_011531901.1
XP_011531902.1
XP_011531904.1
XP_011531905.1
XP_016861693.1
XP_016861694.1
XP_016861695.1
XP_016861696.1
XP_016861697.1
XP_016861698.1
XP_047303956.1
XP_047303957.1
XP_047303958.1
XP_047303959.1
XP_047303960.1
XP_047303961.1
XP_047303962.1
XP_047303963.1
XP_054202226.1
XP_054202227.1
XP_054202228.1
XP_054202229.1
XP_054202230.1
XP_054202231.1
XP_054202232.1
XP_054202233.1
XP_054202234.1
XP_054202235.1
XP_054202236.1
XP_054202237.1
XP_054202238.1
XP_054202239.1
XP_054202240.1
XP_054202241.1
XP_054202242.1
XP_054202243.1
XP_054202244.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042829.1 RefSeqGene

    Range
    5211..43670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278689.2 → NP_001265618.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform a precursor

    See identical proteins and their annotated locations for NP_001265618.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AJ868234, BX648818, DA856791
    Consensus CDS
    CCDS63684.1
    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0
    Related
    ENSP00000373206.3, ENST00000383701.8
    Conserved Domains (1) summary
    pfam04577
    Location:245 → 472
    DUF563; Protein of unknown function (DUF563)

  2. NM_173654.3 → NP_775925.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform b precursor

    See identical proteins and their annotated locations for NP_775925.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks three alternate in-frame exons in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AJ868234, BC060887, DA856791
    Consensus CDS
    CCDS2908.1
    UniProtKB/Swiss-Prot
    Q5NDL2
    Related
    ENSP00000295571.5, ENST00000295571.9
    Conserved Domains (1) summary
    pfam04577
    Location:222 → 388
    DUF563; Protein of unknown function (DUF563)

RNA

  1. NR_103826.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK304102, BX648818, DA856791

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    68975225..69013684 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006205.2 → XP_016861694.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0
    Related
    ENSP00000443780.2, ENST00000540764.5
    Conserved Domains (1) summary
    pfam04577
    Location:245 → 472
    DUF563; Protein of unknown function (DUF563)

  2. XM_047448003.1 → XP_047303959.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

  3. XM_011533602.2 → XP_011531904.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

    See identical proteins and their annotated locations for XP_011531904.1

    Conserved Domains (1) summary
    pfam04577
    Location:344 → 490
    DUF563; Protein of unknown function (DUF563)

  4. XM_017006204.2 → XP_016861693.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    Conserved Domains (1) summary
    pfam04577
    Location:343 → 489
    DUF563; Protein of unknown function (DUF563)

  5. XM_011533600.2 → XP_011531902.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

    See identical proteins and their annotated locations for XP_011531902.1

    Conserved Domains (1) summary
    pfam04577
    Location:344 → 490
    DUF563; Protein of unknown function (DUF563)

  6. XM_005264743.3 → XP_005264800.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    See identical proteins and their annotated locations for XP_005264800.1

    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0
    Conserved Domains (1) summary
    pfam04577
    Location:245 → 472
    DUF563; Protein of unknown function (DUF563)

  7. XM_011533603.2 → XP_011531905.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    Conserved Domains (1) summary
    pfam04577
    Location:343 → 489
    DUF563; Protein of unknown function (DUF563)

  8. XM_011533599.2 → XP_011531901.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

    See identical proteins and their annotated locations for XP_011531901.1

    Conserved Domains (1) summary
    pfam04577
    Location:344 → 490
    DUF563; Protein of unknown function (DUF563)

  9. XM_017006206.2 → XP_016861695.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0
    Conserved Domains (1) summary
    pfam04577
    Location:245 → 472
    DUF563; Protein of unknown function (DUF563)

  10. XM_047448005.1 → XP_047303961.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

  11. XM_047448006.1 → XP_047303962.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

  12. XM_047448002.1 → XP_047303958.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

  13. XM_047448000.1 → XP_047303956.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

  14. XM_047448004.1 → XP_047303960.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

  15. XM_047448001.1 → XP_047303957.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

  16. XM_017006207.2 → XP_016861696.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X4

    UniProtKB/TrEMBL
    B4E243

  17. XM_017006209.2 → XP_016861698.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X6

    UniProtKB/TrEMBL
    B4E243
    Related
    ENST00000496647.5

  18. XM_047448007.1 → XP_047303963.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X7

    UniProtKB/TrEMBL
    B3KR71

  19. XM_017006208.2 → XP_016861697.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    69011970..69050451 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346264.1 → XP_054202239.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

  2. XM_054346259.1 → XP_054202234.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

  3. XM_054346253.1 → XP_054202228.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

  4. XM_054346256.1 → XP_054202231.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

  5. XM_054346251.1 → XP_054202226.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

  6. XM_054346261.1 → XP_054202236.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

  7. XM_054346257.1 → XP_054202232.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

  8. XM_054346252.1 → XP_054202227.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

  9. XM_054346265.1 → XP_054202240.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

  10. XM_054346262.1 → XP_054202237.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

  11. XM_054346263.1 → XP_054202238.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    UniProtKB/Swiss-Prot
    A8K2U1, B4DFH5, L7X1M5, Q5NDL2, Q6MZY0, Q6P985, Q6ZTV0

  12. XM_054346258.1 → XP_054202233.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

  13. XM_054346254.1 → XP_054202229.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

  14. XM_054346260.1 → XP_054202235.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

  15. XM_054346255.1 → XP_054202230.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X1

  16. XM_054346266.1 → XP_054202241.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X4

  17. XM_054346269.1 → XP_054202244.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X6

  18. XM_054346268.1 → XP_054202243.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X8

  19. XM_054346267.1 → XP_054202242.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5NDL2.1 GenPept UniProtKB/Swiss-Prot:Q5NDL2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous