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OGT O-linked N-acetylglucosamine (GlcNAc) transferase [ Homo sapiens (human) ]

Gene ID: 8473, updated on 5-Apr-2020

Summary

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Official Symbol
OGTprovided by HGNC
Official Full Name
O-linked N-acetylglucosamine (GlcNAc) transferaseprovided by HGNC
Primary source
HGNC:HGNC:8127
See related
Ensembl:ENSG00000147162 MIM:300255
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
OGT1; HRNT1; MRX106; HINCUT-1; O-GLCNAC
Summary
This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in lymph node (RPKM 56.6), spleen (RPKM 53.1) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See OGT in Genome Data Viewer
Location:
Xq13.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (71533104..71575892)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70752912..70795747)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene TATA-box binding protein associated factor 1 Neighboring gene inhibitor of growth family, X-linked (pseudogene) Neighboring gene suppressor of cytokine signaling 6 pseudogene Neighboring gene germ cell nuclear acidic peptidase Neighboring gene C-X-C motif chemokine receptor 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Uridine diphosphate release mechanism in O-N-acetylglucosamine (O-GlcNAc) transferase catalysis. She N, et al. Biochim Biophys Acta Gen Subj, 2019 Mar. PMID 30550897
  2. Suppressed OGT expression inhibits cell proliferation while inducing cell apoptosis in bladder cancer. Wang L, et al. BMC Cancer, 2018 Nov 20. PMID 30453909, Free PMC Article
  3. O-GlcNAc transferase associates with the MCM2-7 complex and its silencing destabilizes MCM-MCM interactions. Leturcq M, et al. Cell Mol Life Sci, 2018 Dec. PMID 30069701, Free PMC Article
  4. O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. Selvan N, et al. J Biol Chem, 2018 Jul 6. PMID 29769320, Free PMC Article
  5. The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix. Gundogdu M, et al. Cell Chem Biol, 2018 May 17. PMID 29606577, Free PMC Article

See all (229) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pathogenic N567K mutation leads to loss of O-GlcNAcase activity and delayed differentiation down the neuronal lineage in mouse and Drosophila model.
    Title: Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability.
  2. The ligand transport mechanism in the OGT enzymatic process is described here and is a great resource for designing inhibitors based on UDP or UDP-GlcNAc.
    Title: Uridine diphosphate release mechanism in O-N-acetylglucosamine (O-GlcNAc) transferase catalysis.
  3. These findings suggest that down-regulation of OGT enhances cisplatin-induced autophagy via SNAP-29, resulting in cisplatin-resistant ovarian cancer.
    Title: Down-regulation of OGT promotes cisplatin resistance by inducing autophagy in ovarian cancer.
  4. these findings provide a mechanistic link between the OGT-mediated glucose metabolic pathway and antiviral innate immune signaling by targeting MAVS, and expand our current understanding of importance of glucose metabolic regulation in viral infection-associated diseases.
    Title: O-GlcNAc Transferase Links Glucose Metabolism to MAVS-Mediated Antiviral Innate Immunity.
  5. miR-483 inhibited the expression level of OGT mRNA by direct binding to its 3'-untranslated region. Expression of miR-483 was negatively correlated with OGT in gastric cancer tissues.
    Title: miR-483 is down-regulated in gastric cancer and suppresses cell proliferation, invasion and protein O-GlcNAcylation by targeting OGT.
  6. novel regulatory mechanism for O-GlcNAcylation during FA complex formation, which thereby affects integrin activation and integrin-mediated functions such as cell adhesion and migration
    Title: <i>O</i>-GlcNAcylation regulates integrin-mediated cell adhesion and migration via formation of focal adhesion complexes.
  7. a novel ASXL1-OGT axis and raise the possibility that this axis has a tumor-suppressor role in myeloid malignancies.
    Title: A novel ASXL1-OGT axis plays roles in H3K4 methylation and tumor suppression in myeloid malignancies.
  8. The intellectual disability L254F mutation in OGT affects activity. The L254F mutation leads to shifts up to 12 A in the OGT structure. Thermal denaturing studies reveal reduction in tetratricopeptide repeat domain stability caused by L254F. L254F OGT mutation leads to conformational changes of the tetratricopeptide repeats and reduced activity, revealing the molecular mechanisms contributing to pathogenesis.
    Title: The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix.
  9. O-GlcNAcylation and the expression of O-linked-beta-N-acetylglucosamine transferase (OGT) were upregulated in bladder cancer cell lines and tissue specimens.
    Title: Suppressed OGT expression inhibits cell proliferation while inducing cell apoptosis in bladder cancer.
  10. High OGT expression promotes cancer lipid metabolism via SREBP-1 regulation.
    Title: Nutrient sensor O-GlcNAc transferase controls cancer lipid metabolism via SREBP-1 regulation.
Submit: New GeneRIF Correction See all GeneRIFs (106)

Phenotypes

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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
MENTAL RETARDATION, X-LINKED 106
MedGen: C4478379 OMIM: 300997 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23071, MGC22921

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylglucosaminyltransferase activity TAS
Traceable Author Statement
more info
 PubMed 
contributes_to histone acetyltransferase activity (H4-K16 specific) IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to histone acetyltransferase activity (H4-K5 specific) IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to histone acetyltransferase activity (H4-K8 specific) IDA
Inferred from Direct Assay
more info
 PubMed 
phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
protein N-acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein N-acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
protein N-acetylglucosaminyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein O-GlcNAc transferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein O-GlcNAc transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
circadian regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
  
histone H3-K4 trimethylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
histone H4-K16 acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
histone H4-K5 acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
histone H4-K8 acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
negative regulation of protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
negative regulation of protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
phosphatidylinositol-mediated signaling IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
positive regulation of histone H3-K27 methylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein O-linked glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
protein O-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
  
protein processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of Rac protein signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of gluconeogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
regulation of glycolytic process IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
response to insulin IDA
Inferred from Direct Assay
more info
 PubMed 
response to nutrient TAS
Traceable Author Statement
more info
 PubMed 
signal transduction TAS
Traceable Author Statement
more info
 PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
  
cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
  
nucleoplasm IDA
Inferred from Direct Assay
more info
  
nucleoplasm TAS
Traceable Author Statement
more info
  
nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
protein N-acetylglucosaminyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit
Names
O-GlcNAc transferase p110 subunit
O-GlcNAc transferase subunit p110
O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)
O-linked N-acetylglucosamine transferase 110 kDa subunit
UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase
uridinediphospho-N-acetylglucosamine:polypeptide beta-N-acetylglucosaminyl transferase
NP_858058.1
NP_858059.1
XP_016885397.1
XP_024308235.1

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_015875.1 RefSeqGene

    Range
    5043..47831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_181672.3 → NP_858058.1  UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform 1

    See identical proteins and their annotated locations for NP_858058.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AF070560, BC038180, BX537844, DA460761
    Consensus CDS
    CCDS14414.1
    UniProtKB/Swiss-Prot
    O15294
    Related
    ENSP00000362824.3, ENST00000373719.8
    Conserved Domains (3) summary
    sd00006
    Location:327 → 355
    TPR; TPR repeat [structural motif]
    pfam13844
    Location:556 → 1023
    Glyco_transf_41; Glycosyl transferase family 41
    cl26002
    Location:22 → 465
    TPR_11; TPR repeat

  2. NM_181673.3 → NP_858059.1  UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform 2

    See identical proteins and their annotated locations for NP_858059.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    BC014434, BX537844, DA460761
    Consensus CDS
    CCDS35502.1
    UniProtKB/Swiss-Prot
    O15294
    Related
    ENSP00000362805.3, ENST00000373701.7
    Conserved Domains (3) summary
    sd00006
    Location:317 → 345
    TPR; TPR repeat [structural motif]
    pfam13844
    Location:546 → 1013
    Glyco_transf_41; Glycosyl transferase family 41
    cl26002
    Location:23 → 455
    TPR_11; TPR repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    71533104..71575892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029908.1 → XP_016885397.1  UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform X1

    UniProtKB/Swiss-Prot
    O15294
    Related
    ENST00000488174.5
    Conserved Domains (3) summary
    COG0457
    Location:2 → 121
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:14 → 42
    TPR; TPR repeat [structural motif]
    pfam13844
    Location:175 → 642
    Glyco_transf_41; Glycosyl transferase family 41

  2. XM_024452467.1 → XP_024308235.1  UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit isoform X1

    Conserved Domains (3) summary
    COG0457
    Location:2 → 121
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:14 → 42
    TPR; TPR repeat [structural motif]
    pfam13844
    Location:175 → 642
    Glyco_transf_41; Glycosyl transferase family 41

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003605.3: Suppressed sequence

    Description
    NM_003605.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15294.3 GenPept UniProtKB/Swiss-Prot:O15294

Gene LinkOut

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

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