Recombinant Human UDP-N-acetylglucosamine–peptide N-acetylglucosaminyltransferase 110 kDa subunit (OGT), partial

Function

Has N-acetylglucosaminyltransferase activity: glycosylates proteins, such as HNRNPU, NEUROD1, NUP62 and PDCD6IP (PubMed:31527085). Displays specific substrate selectivity compared to other isoforms (PubMed:31527085)

Subcellular Location

Cytoplasm; Nucleus

Disease Association

[Regulation of OGT activity and altered O-GlcNAcylations are implicated in diabetes and Alzheimer disease. O-GlcNAcylation of AKT1 affects insulin signaling and, possibly diabetes. Reduced O-GlcNAcylations and resulting increased phosphorylations of MAPT/TAU are observed in Alzheimer disease (AD) brain cerebrum] | Intellectual developmental disorder, X-linked 106 (XLID106) : A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Highly expressed in pancreas and to a lesser extent in skeletal muscle, heart, brain and placenta. Present in trace amounts in lung and liver

Subunit

(Microbial infection) Interacts with human T-cell leukemia virus 1/HTLV-1 protein Tax; this interaction increases Tax interacting partner CREB1 O-GlcNAcylation

Pathway

Protein modification; protein glycosylation

• Lubas W.A. et al. O-linked GlcNAc transferase is a conserved nucleocytoplasmic protein containing tetratricopeptide repeats. — J. Biol. Chem. (1997)
• Nolte D. et al. Human O-GlcNAc transferase (OGT): genomic structure, analysis of splice variants, fine mapping in Xq13.1. — Mamm. Genome (2002)
• Bechtel S. et al. The full-ORF clone resource of the German cDNA consortium. — BMC Genomics (2007)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Bienvenut W.V. et al. PubMed: CI-8NGIAN9C5FS7C (FEB-)
• Yang X. et al. Recruitment of O-GlcNAc transferase to promoters by corepressor mSin3A: coupling protein O-GlcNAcylation to transcriptional repression. — Cell (2002)
• Wysocka J. et al. Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1. — Genes Dev. (2003)
• Dephoure N. et al. A quantitative atlas of mitotic phosphorylation. — Proc. Natl. Acad. Sci. U.S.A. (2008)