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; AllianceGenome:HGNC:8127
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; XLID106; 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
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Genomic context

Location:: Xq13.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (71533104..71575892)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (69966355..70009143)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (70752954..70795742)

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

O-GlcNAcylation of TRIM29 and OGT translation forms a feedback loop to promote adaptive response of PDAC cells to glucose deficiency.
Title: O-GlcNAcylation of TRIM29 and OGT translation forms a feedback loop to promote adaptive response of PDAC cells to glucose deficiency.
Downregulation of O-GlcNAc transferase activity impairs basal autophagy and late endosome positioning under nutrient-rich conditions in human colon cells.
Title: Downregulation of O-GlcNAc transferase activity impairs basal autophagy and late endosome positioning under nutrient-rich conditions in human colon cells.
O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.
Title: O-GlcNAc transferase regulates collagen deposition and fibrosis resolution in idiopathic pulmonary fibrosis.
Cryo-EM structure of human O-GlcNAcylation enzyme pair OGT-OGA complex.
Title: Cryo-EM structure of human O-GlcNAcylation enzyme pair OGT-OGA complex.
Motif-dependent binding on the intervening domain regulates O-GlcNAc transferase.
Title: Motif-dependent binding on the intervening domain regulates O-GlcNAc transferase.
Chromatin-associated OGT promotes the malignant progression of hepatocellular carcinoma by activating ZNF263.
Title: Chromatin-associated OGT promotes the malignant progression of hepatocellular carcinoma by activating ZNF263.
LncRNA EBLN3P attributes methotrexate resistance in osteosarcoma cells through miR-200a-3p/O-GlcNAc transferase pathway.
Title: LncRNA EBLN3P attributes methotrexate resistance in osteosarcoma cells through miR-200a-3p/O-GlcNAc transferase pathway.
O-GlcNAc transferase contributes to sex-specific placental deregulation in gestational diabetes.
Title: O-GlcNAc transferase contributes to sex-specific placental deregulation in gestational diabetes.
O-GlcNAc transferase regulates p21 protein levels and cell proliferation through the FoxM1-Skp2 axis in a p53-independent manner.
Title: O-GlcNAc transferase regulates p21 protein levels and cell proliferation through the FoxM1-Skp2 axis in a p53-independent manner.
EGF promotes PKM2 O-GlcNAcylation by stimulating O-GlcNAc transferase phosphorylation at Y976 and their subsequent association.
Title: EGF promotes PKM2 O-GlcNAcylation by stimulating O-GlcNAc transferase phosphorylation at Y976 and their subsequent association.

Submit: New GeneRIF Correction See all GeneRIFs (147)

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
Intellectual disability, X-linked 106 MedGen: C4478379 OMIM: 300997 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II C-terminal domain S5 O-GlcNAc transferase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II C-terminal domain S7 O-GlcNAc transferase activity	IEA Inferred from Electronic Annotation more info
enables acetylglucosaminyltransferase activity	TAS Traceable Author Statement more info	PubMed
enables chromatin DNA binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein O-acetylglucosaminyltransferase activity	EXP Inferred from Experiment more info	PubMed
enables protein O-acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein O-acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein O-acetylglucosaminyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein O-acetylglucosaminyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to glucose stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in mitophagy	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of cell migration	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of non-canonical inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of stem cell population maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of TORC1 signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of lipid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stem cell population maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription from RNA polymerase II promoter by glucose	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein O-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Rac protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of gluconeogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of glycolytic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of insulin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of necroptotic process	TAS Traceable Author Statement more info
involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to insulin	IDA Inferred from Direct Assay more info	PubMed
involved_in response to nutrient	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of NSL complex	IDA Inferred from Direct Assay more info	PubMed
part_of Sin3-type complex	NAS Non-traceable Author Statement more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
part_of histone acetyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein N-acetylglucosaminyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of 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

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

5043..47831

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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, Q7Z3K0, Q8WWM8, Q96CC1, Q9UG57

UniProtKB/TrEMBL

A0A8V8TPA3

Related

ENSP00000362824.3, ENST00000373719.8

Conserved Domains (3) summary

TIGR02917
Location:22 → 465

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:327 → 355

TPR; TPR repeat [structural motif]

pfam13844
Location:556 → 1024

Glyco_transf_41; Glycosyl transferase family 41
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/TrEMBL

A0A8V8TPA3

Related

ENSP00000362805.3, ENST00000373701.7

Conserved Domains (3) summary

TIGR02917
Location:23 → 455

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:317 → 345

TPR; TPR repeat [structural motif]

pfam13844
Location:546 → 1014

Glyco_transf_41; Glycosyl transferase family 41

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

71533104..71575892

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

69966355..70009143

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GenBank, FASTA, Sequence Viewer (Graphics)

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.
NM_025192.1: Suppressed sequence

Description

NM_025192.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.