GCNT1

Beta-1,3-galactozil-O-glikozil-glokoprotein beta-1,6-N-acetilglukozaminoltransferaza je enzim koji je kod ljudi kodiran genom GCNT1.^[5][6][7]

GCNT1
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 2GAK, 2GAM, 3OTK
Identifikatori
Aliasi	GCNT1
Vanjski ID-jevi	OMIM: 600391 MGI: 95676 HomoloGene: 37486 GeneCards: GCNT1
Lokacija gena (čovjek) Hrom. Hromosom 9 (čovjek)[1] Bend 9q21.13 Početak 76,419,850 bp[1] Kraj 76,651,203 bp[1]
Lokacija gena (miš) Hrom. Hromosom 19 (miš)[2] Bend 19 B|19 12.75 cM Početak 17,303,505 bp[2] Kraj 17,350,208 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • aktivnost sa transferazom • acetylglucosaminyltransferase activity • glycosyltransferase activity • beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity • GO:0001948, GO:0016582 vezivanje za proteine Ćelijska komponenta • integral component of membrane • Golđijev aparat • membrana • Golgi cisterna • trans-Golđijeva mreža • Golđijeva membrana • Vanćelijsko Biološki proces • glycoprotein biosynthetic process • tissue morphogenesis • response to insulin • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation • kidney morphogenesis • O-glycan processing • leukocyte tethering or rolling • cell adhesion molecule production Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	2650	14537
Ensembl	ENSG00000187210	ENSMUSG00000038843
UniProt	Q02742	Q09324
RefSeq (mRNK)	NM_001097633 NM_001097634 NM_001097635 NM_001097636 NM_001490	NM_001136484 NM_010265 NM_173442
RefSeq (bjelančevina)	NP_001091102 NP_001091103 NP_001091104 NP_001091105 NP_001481	NP_001129956 NP_034395 NP_775618
Lokacija (UCSC)	Chr 9: 76.42 – 76.65 Mb	Chr 19: 17.3 – 17.35 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 428 aminokiselina, а molekulska težina 49.799 Da.^[8]

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MLRTLLRRRL		FSYPTKYYFM		VLVLSLITFS		VLRIHQKPEF		VSVRHLELAG
ENPSSDINCT		KVLQGDVNEI		QKVKLEILTV		KFKKRPRWTP		DDYINMTSDC
SSFIKRRKYI		VEPLSKEEAE		FPIAYSIVVH		HKIEMLDRLL		RAIYMPQNFY
CIHVDTKSED		SYLAAVMGIA		SCFSNVFVAS		RLESVVYASW		SRVQADLNCM
KDLYAMSANW		KYLINLCGMD		FPIKTNLEIV		RKLKLLMGEN		NLETERMPSH
KEERWKKRYE		VVNGKLTNTG		TVKMLPPLET		PLFSGSAYFV		VSREYVGYVL
QNEKIQKLME		WAQDTYSPDE		YLWATIQRIP		EVPGSLPASH		KYDLSDMQAV
ARFVKWQYFE		GDVSKGAPYP		PCDGVHVRSV		CIFGAGDLNW		MLRKHHLFAN
KFDVDVDLFA		IQCLDEHLRH		KALETLKH

Funkcija

Ovaj gen je član beta-1,3-N-acetilglukozaminiltransferaza 3. Od suštinskog je značaja za stvaranje Gal beta 1-3 (GlcNAc beta 1-6) GalNAc struktura i jezgra 2 O-glikanske grane. Gen koji kodira ovaj enzim prvobitno je mapiran na 9q21, ali je kasnije lokaliziran na 9q13. Identificirano je više alternativno prerađenih varijanti, koje kodiraju isti protein.^[7]

Reference

1. GRCh38: Ensembl release 89: ENSG00000187210 - Ensembl, maj 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000038843 - Ensembl, maj 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)".
8. "UniProt, Q02742". Pristupljeno 9. 9. 2021.

Dopunska literatura

• 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. 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.

Vanjski linkovi