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

Summary

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; Vega:OTTHUMG00000033316
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

Location:: Xq13.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	X	NC_000023.11 (71533062..71575897)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (70752912..70795747)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

O-GlcNAc transferase (OGT) is a partner of the MCM2-7 complex and O-GlcNAcylation might regulate MCM2-7 complex by regulating the chromatin loading of MCM6 and MCM7 and stabilizing MCM/MCM interactions.
Title: O-GlcNAc transferase associates with the MCM2-7 complex and its silencing destabilizes MCM-MCM interactions.
LXRalpha interacts with OGT in its N-terminal domain and ligand-binding domain (LBD) in a ligand-independent fashion.
Title: O-GlcNAc site-mapping of liver X receptor-α and O-GlcNAc transferase.
Findings demonstrate a novel role of Poleta O-GlcNAcylation by OGT in translesion DNA synthesis regulation and genome stability maintenance.
Title: Polη O-GlcNAcylation governs genome integrity during translesion DNA synthesis.
OGT, a unique glycosyltransferase enzyme, was identified to be upregulated in non-alcoholic fatty liver disease-associated hepatocellular carcinoma tissues by transcriptome sequencing. Here, we found that OGT plays a role in cancer by promoting tumor growth and metastasis in cell models. This effect is mediated by the induction of palmitic acid.
Title: O-GlcNAc transferase promotes fatty liver-associated liver cancer through inducing palmitic acid and activating endoplasmic reticulum stress.
Nrf1 is regulated by O-GlcNAc transferase.
Title: Nuclear factor-erythroid-2 related transcription factor-1 (Nrf1) is regulated by O-GlcNAc transferase.
Findings indicate O-linked N-acetylglucosamine transferase (OGT) as a cellular factor involved in human papillomaviruses type 16/18 E6 and E7 expressions and cervical cancer tumorigenesis, suggesting that targeting OGT in cervical cancer may have potential therapeutic benefit.
Title: O-linked N-acetylglucosamine transferase promotes cervical cancer tumorigenesis through human papillomaviruses E6 and E7 oncogenes.
The findings suggest that OGT promotes the O-GlcNAc modification of HDAC1 in the development of progression hepatocellular carcinoma.
Title: O-GlcNAcylation of histone deacetylases 1 in hepatocellular carcinoma promotes cancer progression.
Tax interacts with the host OGT/OGA complex and inhibits the activity of OGT-bound OGA.
Title: Hijacking of the O-GlcNAcZYME complex by the HTLV-1 Tax oncoprotein facilitates viral transcription.
We identified two human PRC2 complexes and two PR-DUB deubiquitination complexes, which contain the O-linked N-acetylglucosamine transferase OGT1 and several transcription factors.
Title: A High-Density Map for Navigating the Human Polycomb Complexome.
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
Title: Mutations in <i>N</i>-acetylglucosamine (<i>O</i>-GlcNAc) transferase in patients with X-linked intellectual disability.

Submit: New GeneRIF Correction See all GeneRIFs (91)

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	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
Chromatin organization, organism-specific biosystem (from REACTOME)
Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
Deubiquitination, organism-specific biosystem (from REACTOME)
Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
HATs acetylate histones, organism-specific biosystem (from REACTOME)
HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
Insulin resistance, organism-specific biosystem (from KEGG)
Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
Metabolism of proteins, organism-specific biosystem (from REACTOME)
Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
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...
Post-translational protein modification, organism-specific biosystem (from REACTOME)
Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
UCH proteinases, organism-specific biosystem (from REACTOME)
UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...
protein O-[N-acetyl]-glucosylation, organism-specific biosystem (from BIOCYC)
protein O-[N-acetyl]-glucosylation, organism-specific biosystemThe most abundant type of O glycosylation in proteins is the GalNAc-type, where : CPD-3604 is linked to : SER or : THR residues in the protein chain by an alpha-glycosidic linkage. In most cases othe...
protein O-[N-acetyl]-glucosylation, conserved biosystem (from BIOCYC)
protein O-[N-acetyl]-glucosylation, conserved biosystemThe most abundant type of O glycosylation in proteins is the GalNAc-type, where |FRAME: CPD-3604| is linked to |FRAME: SER| or |FRAME: THR| residues in the protein chain by an alpha-glycosidic linkag...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS8101 (e-PCR)
- UniSTS:38951

SHGC-56883 (e-PCR)
- UniSTS:73260

RH1703 (e-PCR)
- UniSTS:77623

A002Y42 (e-PCR)
- UniSTS:70973

DXS7559E (e-PCR)
- UniSTS:153974

SHGC-16181 (e-PCR)
- UniSTS:25478

Ogt (e-PCR), detects polymorphism
- UniSTS:507110

Homology

Homologs of the OGT gene: The OGT gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, and frog.
Orthologs from Annotation Pipeline: 242 organisms have orthologs with human gene OGT
The Hierarchical Catalog of Orthologs

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	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	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
cytosol	IDA Inferred from Direct Assay more info	PubMed
histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
mitochondrion	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-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

EC 2.4.1.255

NP_858059.1

EC 2.4.1.255

XP_016885397.1

EC 2.4.1.255

XP_024308235.1

EC 2.4.1.255

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

NG_015875.1 RefSeqGene

Range

5001..47836

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_181672.2 → 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, AL590763, BC038180, BX537844, CB857907, DA460761

Consensus CDS

CCDS14414.1

UniProtKB/Swiss-Prot

O15294

Related

ENSP00000362824.3, OTTHUMP00000032154, ENST00000373719.7, OTTHUMT00000081829

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
NM_181673.2 → 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)

AL590763, BC014434, BX537844, CB857907, DA460761

Consensus CDS

CCDS35502.1

UniProtKB/Swiss-Prot

O15294

Related

ENSP00000362805.3, OTTHUMP00000032166, ENST00000373701.7, OTTHUMT00000081847

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 Annotation Release 109 details...

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

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p12 Primary Assembly

Range

71533062..71575897

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

O15294

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
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

NM_003605.3: Suppressed sequence

Description

NM_003605.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.