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

Gene ID: 285203, updated on 11-Jun-2021

Summary

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
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
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Genomic context

See EOGT in Genome Data Viewer
Location:
3p14.1
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (68975220..69013961, complement)
105.20201022 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 proteasome 26S subunit, ATPase 1 pseudogene 1 Neighboring gene TAFA chemokine like family member 4 Neighboring gene RNA, 5S ribosomal pseudogene 135 Neighboring gene TATA element modulatory factor 1 Neighboring gene microRNA 3136 Neighboring gene ubiquitin like modifier activating enzyme 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13078, FLJ33770, FLJ41219, MGC34132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables glycosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein N-acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein N-acetylglucosaminyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein O-GlcNAc transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in protein O-GlcNAcylation via threonine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001278689.2NP_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
    Q5NDL2
    Related
    ENSP00000373206.3, ENST00000383701.8
    Conserved Domains (1) summary
    pfam04577
    Location:245472
    DUF563; Protein of unknown function (DUF563)
  2. NM_173654.3NP_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:222388
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    68975220..69013961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q5NDL2
    Conserved Domains (1) summary
    pfam04577
    Location:245472
    DUF563; Protein of unknown function (DUF563)
  2. XM_011533602.1XP_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:344490
    DUF563; Protein of unknown function (DUF563)
  3. XM_017006204.1XP_016861693.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    Conserved Domains (1) summary
    pfam04577
    Location:343489
    DUF563; Protein of unknown function (DUF563)
  4. XM_011533600.1XP_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:344490
    DUF563; Protein of unknown function (DUF563)
  5. XM_005264743.2XP_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
    Q5NDL2
    Conserved Domains (1) summary
    pfam04577
    Location:245472
    DUF563; Protein of unknown function (DUF563)
  6. XM_011533603.1XP_011531905.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X2

    Conserved Domains (1) summary
    pfam04577
    Location:343489
    DUF563; Protein of unknown function (DUF563)
  7. XM_011533599.1XP_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:344490
    DUF563; Protein of unknown function (DUF563)
  8. XM_017006206.1XP_016861695.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X3

    UniProtKB/Swiss-Prot
    Q5NDL2
    Conserved Domains (1) summary
    pfam04577
    Location:245472
    DUF563; Protein of unknown function (DUF563)
  9. XM_017006207.1XP_016861696.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X4

  10. XM_017006209.1XP_016861698.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X6

    Related
    ENST00000496647.5
  11. XM_017006208.1XP_016861697.1  EGF domain-specific O-linked N-acetylglucosamine transferase isoform X5

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