GCNT1

GCNT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2GAK, 2GAM, 3OTK
Identifiers
Aliases	GCNT1 , C2GNT, C2GNT-L, C2GNT1, G6NT, NACGT2, NAGCT2, glucosaminyl (N-acetyl) transferase 1, core 2, glucosaminyl (N-acetyl) transferase 1
External IDs	OMIM: 600391; MGI: 95676; HomoloGene: 37486; GeneCards: GCNT1; OMA:GCNT1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q21.13 Start 76,419,850 bp [1] End 76,651,203 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19 B|19 12.75 cM Start 17,303,505 bp [2] End 17,350,208 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in duodenum jejunal mucosa islet of Langerhans amniotic fluid Achilles tendon mucosa of sigmoid colon secondary oocyte rectum mucosa of ileum monocyte Top expressed in right kidney parotid gland proximal tubule granulocyte human kidney stroma of bone marrow atrioventricular valve left colon mesenteric lymph nodes aortic valve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity acetylglucosaminyltransferase activity glycosyltransferase activity beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity protein binding Cellular component integral component of membrane Golgi apparatus membrane Golgi cisterna trans-Golgi network Golgi membrane extracellular space Biological process glycoprotein biosynthetic process tissue morphogenesis response to insulin protein glycosylation kidney morphogenesis O-glycan processing leukocyte tethering or rolling cell adhesion molecule production Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2650 14537 Ensembl ENSG00000187210 ENSMUSG00000038843 UniProt Q02742 Q09324 RefSeq (mRNA) NM_001097633 NM_001097634 NM_001097635 NM_001097636 NM_001490 NM_001136484 NM_010265 NM_173442 RefSeq (protein) NP_001091102 NP_001091103 NP_001091104 NP_001091105 NP_001481 NP_001129956 NP_034395 NP_775618 Location (UCSC) Chr 9: 76.42 – 76.65 Mb Chr 19: 17.3 – 17.35 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the GCNT1 gene. ^{[5] [6] [7]}

This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000187210 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038843 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Bierhuizen MF, Mattei MG, Fukuda M (Apr 1993). "Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family". Genes Dev. 7 (3): 468–78. doi: 10.1101/gad.7.3.468 . PMID   8449405.
6. Yeh JC, Ong E, Fukuda M (Mar 1999). "Molecular cloning and expression of a novel beta-1, 6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches". J Biol Chem. 274 (5): 3215–21. doi: 10.1074/jbc.274.5.3215 . PMID   9915862.
7. "Entrez Gene: GCNT1 glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)".

Further reading

• Bierhuizen MF, Fukuda M (1992). "Expression cloning of a cDNA encoding UDP-GlcNAc:Gal beta 1-3-GalNAc-R (GlcNAc to GalNAc) beta 1-6GlcNAc transferase by gene transfer into CHO cells expressing polyoma large tumor antigen". Proc. Natl. Acad. Sci. U.S.A. 89 (19): 9326–330. Bibcode:1992PNAS...89.9326B. doi: 10.1073/pnas.89.19.9326 . PMC   50119 . PMID   1329093.
• Bierhuizen MF, Maemura K, Kudo S, Fukuda M (1995). "Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family". Glycobiology. 5 (4): 417–25. doi:10.1093/glycob/5.4.417. PMID   7579796.
• Skrincosky D, Kain R, El-Battari A, et al. (1997). "Altered Golgi localization of core 2 beta-1,6-N-acetylglucosaminyltransferase leads to decreased synthesis of branched O-glycans". J. Biol. Chem. 272 (36): 22695–702. doi: 10.1074/jbc.272.36.22695 . PMID   9278427.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Beum PV, Bastola DR, Cheng PW (2003). "Mucin biosynthesis: epidermal growth factor downregulates core 2 enzymes in a human airway adenocarcinoma cell line". Am. J. Respir. Cell Mol. Biol. 29 (1): 48–56. doi:10.1165/rcmb.2002-0147OC. PMID   12600830.
• Falkenberg VR, Alvarez K, Roman C, Fregien N (2004). "Multiple transcription initiation and alternative splicing in the 5' untranslated region of the core 2 beta1-6 N-acetylglucosaminyltransferase I gene". Glycobiology. 13 (6): 411–8. doi: 10.1093/glycob/cwg039 . PMID   12626388.
• Chibber R, Ben-Mahmud BM, Mann GE, et al. (2003). "Protein kinase C beta2-dependent phosphorylation of core 2 GlcNAc-T promotes leukocyte-endothelial cell adhesion: a mechanism underlying capillary occlusion in diabetic retinopathy". Diabetes. 52 (6): 1519–27. doi: 10.2337/diabetes.52.6.1519 . PMID   12765965.
• Smith MJ, Smith BR, Lawrence MB, Snapp KR (2004). "Functional analysis of the combined role of the O-linked branching enzyme core 2 beta1-6-N-glucosaminyltransferase and dimerization of P-selectin glycoprotein ligand-1 in rolling on P-selectin". J. Biol. Chem. 279 (21): 21984–91. doi: 10.1074/jbc.M402731200 . PMID   15026421.
• Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC   515316 . PMID   15342556.
• Kikuchi J, Shinohara H, Nonomura C, et al. (2005). "Not core 2 beta 1,6-N-acetylglucosaminyltransferase-2 or -3 but -1 regulates sialyl-Lewis x expression in human precursor B cells". Glycobiology. 15 (3): 271–80. doi: 10.1093/glycob/cwi005 . PMID   15483269.
• Beum PV, Basma H, Bastola DR, Cheng PW (2005). "Mucin biosynthesis: upregulation of core 2 beta 1,6 N-acetylglucosaminyltransferase by retinoic acid and Th2 cytokines in a human airway epithelial cell line". Am. J. Physiol. Lung Cell Mol. Physiol. 288 (1): L116–24. doi:10.1152/ajplung.00370.2003. PMID   15591039.
• Wang L, Mitoma J, Tsuchiya N, et al. (2005). "An A/G polymorphism of core 2 branching enzyme gene is associated with prostate cancer". Biochem. Biophys. Res. Commun. 331 (4): 958–63. doi:10.1016/j.bbrc.2005.04.022. PMID   15882971.
• Prorok-Hamon M, Notel F, Mathieu S, et al. (2006). "N-glycans of core2 beta(1,6)-N-acetylglucosaminyltransferase-I (C2GnT-I) but not those of alpha(1,3)-fucosyltransferase-VII (FucT-VII) are required for the synthesis of functional P-selectin glycoprotein ligand-1 (PSGL-1): effects on P-, L- and E-selectin binding". Biochem. J. 391 (Pt 3): 491–502. doi:10.1042/BJ20050344. PMC   1276950 . PMID   15926890.
• Hagisawa S, Ohyama C, Takahashi T, et al. (2006). "Expression of core 2 beta1,6-N-acetylglucosaminyltransferase facilitates prostate cancer progression". Glycobiology. 15 (10): 1016–24. doi: 10.1093/glycob/cwi086 . PMID   15932919.
• Kikuchi J, Ozaki H, Nonomura C, et al. (2005). "Transfection of antisense core 2 beta1,6-N-acetylglucosaminyltransferase-1 cDNA suppresses selectin ligand expression and tissue infiltration of B-cell precursor leukemia cells". Leukemia. 19 (11): 1934–40. doi: 10.1038/sj.leu.2403951 . PMID   16179912.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Cabrera PV, Amano M, Mitoma J, et al. (2006). "Haploinsufficiency of C2GnT-I glycosyltransferase renders T lymphoma cells resistant to cell death". Blood. 108 (7): 2399–406. doi:10.1182/blood-2006-04-018556. PMC   1895562 . PMID   16778138.
• Julien S, Grimshaw MJ, Sutton-Smith M, et al. (2007). "Sialyl-Lewis(x) on P-selectin glycoprotein ligand-1 is regulated during differentiation and maturation of dendritic cells: a mechanism involving the glycosyltransferases C2GnT1 and ST3Gal I." J. Immunol. 179 (9): 5701–10. doi: 10.4049/jimmunol.179.9.5701 . PMID   17947642.