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

    Gene ID: 285203, updated on 17-Jun-2019

    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

    Genomic context

    See EOGT in Genome Data Viewer
    Location:
    3p14.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (68975212..69013961, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (69024363..69063112, 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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Other types of O-glycan biosynthesis, organism-specific biosystem (from KEGG)
      Other types of O-glycan biosynthesis, organism-specific biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...
    • Other types of O-glycan biosynthesis, conserved biosystem (from KEGG)
      Other types of O-glycan biosynthesis, conserved biosystemO-linked glycosylation is the attachment of monosaccharides to the hydroxyl groups of amino acids, mostly serine and threonine, and is found in eukaryotes, archaea and bacteria. O-glycans exhibit div...

    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
    protein N-acetylglucosaminyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    protein O-linked glycosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    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
      5001..43683
      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_103826.1 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)
      AA709285, AK304102, BX648818, DA856791

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    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
      68975212..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
      Related
      ENSP00000443780.2, ENST00000540764.5
      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

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

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